| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| JAK1 | Benign | 29|171 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 47|153 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 47|153 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 48|152 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 48|152 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 48|152 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 48|152 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 48|152 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 48|152 | without_ | No | Single base exchange | Normal | |||||||
ENST00000342505(MANE Select) | JAK1 | Benign | 48|152 | without_ | No | Single base exchange | Normal | ||||||
| JAK1 | Benign | 51|149 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 60|140 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 60|140 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 60|140 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 60|140 | without_ | No | Single base exchange | Normal | |||||||
| JAK1 | Benign | 60|140 | without_ | No | Single base exchange | Normal |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | LOEUF: 0.37, LOF (oe): 0.20, misssense (oe): 0.67, synonymous (oe): 0.85 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000672751.2 | |||||||||||||
| Genbank transcript ID | NM_001321852 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3378A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3465 / 3465 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1155 / 1155 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3693 / 3693 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 229 / 229 | |||||||||||||
| Last intron/exon boundary | 3597 | |||||||||||||
| Theoretical NMD boundary in CDS | 3318 | |||||||||||||
| Length of CDS | 3465 | |||||||||||||
| Coding sequence (CDS) position | 3378 | |||||||||||||
| cDNA position | 3606 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | LOEUF: 0.17, LOF (oe): 0.11, misssense (oe): 0.56, synonymous (oe): 0.93 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000673254.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3246A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISVSTH DLKVKYLATL ETLTKHYGAE IFETSMLLIS SENEMNWFHS NDGGNVLYYE VMVTGNLGIQ WRHKPNVVSV EKEKNKLKRK KLENKHKKDE EKNKIREEWN NFSYFPEITH IVIKESVVSI NKQDNKKMEL KLSSHEEALS FVSLVDGYFR LTADAHHYLC TDVAPPLIVH NIQNGCHGPI CTEYAINKLR QEGSEEGMYV LRWSCTDFDN ILMTVTCFEK SEQVQGAQKQ FKNFQIEVQK GRYSLHGSDR SFPSLGDLMS HLKKQILRTD NISFMLKRCC QPKPREISNL LVATKKAQEW QPVYPMSQLS FDRILKKDLV QGEHLGRGTR THIYSGTLMD YKDDEGTSEE KKIKVILKVL DPSHRDISLA FFEAASMMRQ VSHKHIVYLY GVCVRDVENI MVEEFVEGGP LDLFMHRKSD VLTTPWKFKV AKQLASALSY LEDKDLVHGN VCTKNLLLAR EGIDSECGPF IKLSDPGIPI TVLSRQECIE RIPWIAPECV EDSKNLSVAA DKWSFGTTLW EICYNGEIPL KDKTLIEKER FYESRCRPVT PSCKELADLM TRCMNYDPNQ RPFFRAIMRD INKLEEQNPD IVSEKKPATE VDPTHFEKRF LKRIRDLGEG HFGKVELCRY DPEGDNTGEQ VAVKSLKPES GGNHIADLKK EIEILRNLYH ENIVKYKGIC TEDGGNGIKL IMEFLPSGSL KEYLPKNKNK INLKQQLKYA VQICKGMDYL GSRQYVHRDL AARNVLVESE HQVKIGDFGL TKAIETDKEY YTVKDDRDSP VFWYAPECLM QSKFYIASDV WSFGVTLHEL LTYCDSDSSP MALFLKMIGP THGQMTVTRL VNTLKEGKRL PCPPNCPDEV YQLMRKCWEF QPSNRTSFQN LIEGFEALLK * | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISVSTH DLKVKYLATL ETLTKHYGAE IFETSMLLIS SENEMNWFHS NDGGNVLYYE VMVTGNLGIQ WRHKPNVVSV EKEKNKLKRK KLENKHKKDE EKNKIREEWN NFSYFPEITH IVIKESVVSI NKQDNKKMEL KLSSHEEALS FVSLVDGYFR LTADAHHYLC TDVAPPLIVH NIQNGCHGPI CTEYAINKLR QEGSEEGMYV LRWSCTDFDN ILMTVTCFEK SEQVQGAQKQ FKNFQIEVQK GRYSLHGSDR SFPSLGDLMS HLKKQILRTD NISFMLKRCC QPKPREISNL LVATKKAQEW QPVYPMSQLS FDRILKKDLV QGEHLGRGTR THIYSGTLMD YKDDEGTSEE KKIKVILKVL DPSHRDISLA FFEAASMMRQ VSHKHIVYLY GVCVRDVENI MVEEFVEGGP LDLFMHRKSD VLTTPWKFKV AKQLASALSY LEDKDLVHGN VCTKNLLLAR EGIDSECGPF IKLSDPGIPI TVLSRQECIE RIPWIAPECV EDSKNLSVAA DKWSFGTTLW EICYNGEIPL KDKTLIEKER FYESRCRPVT PSCKELADLM TRCMNYDPNQ RPFFRAIMRD INKLEEQNPD IVSEKKPATE VDPTHFEKRF LKRIRDLGEG HFGKVELCRY DPEGDNTGEQ VAVKSLKPES GGNHIADLKK EIEILRNLYH ENIVKYKGIC TEDGGNGIKL IMEFLPSGSL KEYLPKNKNK INLKQQLKYA VQICKGMDYL GSRQYVHRDL AARNVLVESE HQVKIGDFGL TKAIETDKEY YTVKDDRDSP VFWYAPECLM QSKFYIASDV WSFGVTLHEL LTYCDSDSSP MALFLKMIGP THGQMTVTRL VNTLKEGKRL PCPPNCPDEV YQLMRKCWEF QPSNRTSFQN LIEGFEALLK * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3333 / 3333 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1111 / 1111 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3630 / 3630 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 298 / 298 | |||||||||||||
| Last intron/exon boundary | 3534 | |||||||||||||
| Theoretical NMD boundary in CDS | 3186 | |||||||||||||
| Length of CDS | 3333 | |||||||||||||
| Coding sequence (CDS) position | 3246 | |||||||||||||
| cDNA position | 3543 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | LOEUF: 0.14, LOF (oe): 0.04, misssense (oe): 0.45, synonymous (oe): 0.93 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000672574.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3273A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSYPDI VSEKKPATEV DPTHFEKRFL KRIRDLGEGH FGKVELCRYD PEGDNTGEQV AVKSLKPESG GNHIADLKKE IEILRNLYHE NIVKYKGICT EDGGNGIKLI MEFLPSGSLK EYLPKNKNKI NLKQQLKYAV QICKGMDYLG SRQYVHRDLA ARNVLVESEH QVKIGDFGLT KAIETDKEYY TVKDDRDSPV FWYAPECLMQ SKFYIASDVW SFGVTLHELL TYCDSDSSPM ALFLKMIGPT HGQMTVTRLV NTLKEGKRLP CPPNCPDEVY QLMRKCWEFQ PSNRTSFQNL IEGFEALLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSYPDI VSEKKPATEV DPTHFEKRFL KRIRDLGEGH FGKVELCRYD PEGDNTGEQV AVKSLKPESG GNHIADLKKE IEILRNLYHE NIVKYKGICT EDGGNGIKLI MEFLPSGSLK EYLPKNKNKI NLKQQLKYAV QICKGMDYLG SRQYVHRDLA ARNVLVESEH QVKIGDFGLT KAIETDKEYY TVKDDRDSPV FWYAPECLMQ SKFYIASDVW SFGVTLHELL TYCDSDSSPM ALFLKMIGPT HGQMTVTRLV NTLKEGKRLP CPPNCPDEVY QLMRKCWEFQ PSNRTSFQNL IEGFEALLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3360 / 3360 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1120 / 1120 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3674 / 3674 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 315 / 315 | |||||||||||||
| Last intron/exon boundary | 3578 | |||||||||||||
| Theoretical NMD boundary in CDS | 3213 | |||||||||||||
| Length of CDS | 3360 | |||||||||||||
| Coding sequence (CDS) position | 3273 | |||||||||||||
| cDNA position | 3587 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.01 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000672434.2 | |||||||||||||
| Genbank transcript ID | NM_001321853 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3378A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3465 / 3465 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1155 / 1155 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3930 / 3930 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 466 / 466 | |||||||||||||
| Last intron/exon boundary | 3834 | |||||||||||||
| Theoretical NMD boundary in CDS | 3318 | |||||||||||||
| Length of CDS | 3465 | |||||||||||||
| Coding sequence (CDS) position | 3378 | |||||||||||||
| cDNA position | 3843 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000671954.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3378A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3465 / 3465 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1155 / 1155 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3773 / 3773 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 309 / 309 | |||||||||||||
| Last intron/exon boundary | 3677 | |||||||||||||
| Theoretical NMD boundary in CDS | 3318 | |||||||||||||
| Length of CDS | 3465 | |||||||||||||
| Coding sequence (CDS) position | 3378 | |||||||||||||
| cDNA position | 3686 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.01 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000672179.2 | |||||||||||||
| Genbank transcript ID | NM_001321856 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3378A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3465 / 3465 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1155 / 1155 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3581 / 3581 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 117 / 117 | |||||||||||||
| Last intron/exon boundary | 3485 | |||||||||||||
| Theoretical NMD boundary in CDS | 3318 | |||||||||||||
| Length of CDS | 3465 | |||||||||||||
| Coding sequence (CDS) position | 3378 | |||||||||||||
| cDNA position | 3494 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.54, synonymous (oe): 0.90 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000673246.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3249A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISSVST HDLKVKYLAT LETLTKHYGA EIFETSMLLI SSENEMNWFH SNDGGNVLYY EVMVTGNLGI QWRHKPNVVS VEKEKNKLKR KKLENKHKKD EEKNKIREEW NNFSYFPEIT HIVIKESVVS INKQDNKKME LKLSSHEEAL SFVSLVDGYF RLTADAHHYL CTDVAPPLIV HNIQNGCHGP ICTEYAINKL RQEGSEEGMY VLRWSCTDFD NILMTVTCFE KSEQVQGAQK QFKNFQIEVQ KGRYSLHGSD RSFPSLGDLM SHLKKQILRT DNISFMLKRC CQPKPREISN LLVATKKAQE WQPVYPMSQL SFDRILKKDL VQGEHLGRGT RTHIYSGTLM DYKDDEGTSE EKKIKVILKV LDPSHRDISL AFFEAASMMR QVSHKHIVYL YGVCVRDVEN IMVEEFVEGG PLDLFMHRKS DVLTTPWKFK VAKQLASALS YLEDKDLVHG NVCTKNLLLA REGIDSECGP FIKLSDPGIP ITVLSRQECI ERIPWIAPEC VEDSKNLSVA ADKWSFGTTL WEICYNGEIP LKDKTLIEKE RFYESRCRPV TPSCKELADL MTRCMNYDPN QRPFFRAIMR DINKLEEQNP DIVSEKKPAT EVDPTHFEKR FLKRIRDLGE GHFGKVELCR YDPEGDNTGE QVAVKSLKPE SGGNHIADLK KEIEILRNLY HENIVKYKGI CTEDGGNGIK LIMEFLPSGS LKEYLPKNKN KINLKQQLKY AVQICKGMDY LGSRQYVHRD LAARNVLVES EHQVKIGDFG LTKAIETDKE YYTVKDDRDS PVFWYAPECL MQSKFYIASD VWSFGVTLHE LLTYCDSDSS PMALFLKMIG PTHGQMTVTR LVNTLKEGKR LPCPPNCPDE VYQLMRKCWE FQPSNRTSFQ NLIEGFEALL K* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISSVST HDLKVKYLAT LETLTKHYGA EIFETSMLLI SSENEMNWFH SNDGGNVLYY EVMVTGNLGI QWRHKPNVVS VEKEKNKLKR KKLENKHKKD EEKNKIREEW NNFSYFPEIT HIVIKESVVS INKQDNKKME LKLSSHEEAL SFVSLVDGYF RLTADAHHYL CTDVAPPLIV HNIQNGCHGP ICTEYAINKL RQEGSEEGMY VLRWSCTDFD NILMTVTCFE KSEQVQGAQK QFKNFQIEVQ KGRYSLHGSD RSFPSLGDLM SHLKKQILRT DNISFMLKRC CQPKPREISN LLVATKKAQE WQPVYPMSQL SFDRILKKDL VQGEHLGRGT RTHIYSGTLM DYKDDEGTSE EKKIKVILKV LDPSHRDISL AFFEAASMMR QVSHKHIVYL YGVCVRDVEN IMVEEFVEGG PLDLFMHRKS DVLTTPWKFK VAKQLASALS YLEDKDLVHG NVCTKNLLLA REGIDSECGP FIKLSDPGIP ITVLSRQECI ERIPWIAPEC VEDSKNLSVA ADKWSFGTTL WEICYNGEIP LKDKTLIEKE RFYESRCRPV TPSCKELADL MTRCMNYDPN QRPFFRAIMR DINKLEEQNP DIVSEKKPAT EVDPTHFEKR FLKRIRDLGE GHFGKVELCR YDPEGDNTGE QVAVKSLKPE SGGNHIADLK KEIEILRNLY HENIVKYKGI CTEDGGNGIK LIMEFLPSGS LKEYLPKNKN KINLKQQLKY AVQICKGMDY LGSRQYVHRD LAARNVLVES EHQVKIGDFG LTKAIETDKE YYTVKDDRDS PVFWYAPECL MQSKFYIASD VWSFGVTLHE LLTYCDSDSS PMALFLKMIG PTHGQMTVTR LVNTLKEGKR LPCPPNCPDE VYQLMRKCWE FQPSNRTSFQ NLIEGFEALL K* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3336 / 3336 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1112 / 1112 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3632 / 3632 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 297 / 297 | |||||||||||||
| Last intron/exon boundary | 3536 | |||||||||||||
| Theoretical NMD boundary in CDS | 3189 | |||||||||||||
| Length of CDS | 3336 | |||||||||||||
| Coding sequence (CDS) position | 3249 | |||||||||||||
| cDNA position | 3545 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000672247.2 | |||||||||||||
| Genbank transcript ID | NM_001321855 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3378A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3465 / 3465 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1155 / 1155 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3841 / 3841 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 377 / 377 | |||||||||||||
| Last intron/exon boundary | 3745 | |||||||||||||
| Theoretical NMD boundary in CDS | 3318 | |||||||||||||
| Length of CDS | 3465 | |||||||||||||
| Coding sequence (CDS) position | 3378 | |||||||||||||
| cDNA position | 3754 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.01 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000671929.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3378A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3465 / 3465 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1155 / 1155 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3862 / 3862 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 398 / 398 | |||||||||||||
| Last intron/exon boundary | 3766 | |||||||||||||
| Theoretical NMD boundary in CDS | 3318 | |||||||||||||
| Length of CDS | 3465 | |||||||||||||
| Coding sequence (CDS) position | 3378 | |||||||||||||
| cDNA position | 3775 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.57, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000342505.5 | |||||||||||||
| Genbank transcript ID | NM_002227 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3378A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3465 / 3465 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1155 / 1155 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3759 / 3759 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 295 / 295 | |||||||||||||
| Last intron/exon boundary | 3663 | |||||||||||||
| Theoretical NMD boundary in CDS | 3318 | |||||||||||||
| Length of CDS | 3465 | |||||||||||||
| Coding sequence (CDS) position | 3378 | |||||||||||||
| cDNA position | 3672 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.01 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | LOEUF: 0.18, LOF (oe): 0.11, misssense (oe): 0.57, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000673046.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3372A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNIVSEKKPA TEVDPTHFEK RFLKRIRDLG EGHFGKVELC RYDPEGDNTG EQVAVKSLKP ESGGNHIADL KKEIEILRNL YHENIVKYKG ICTEDGGNGI KLIMEFLPSG SLKEYLPKNK NKINLKQQLK YAVQICKGMD YLGSRQYVHR DLAARNVLVE SEHQVKIGDF GLTKAIETDK EYYTVKDDRD SPVFWYAPEC LMQSKFYIAS DVWSFGVTLH ELLTYCDSDS SPMALFLKMI GPTHGQMTVT RLVNTLKEGK RLPCPPNCPD EVYQLMRKCW EFQPSNRTSF QNLIEGFEAL LK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNIVSEKKPA TEVDPTHFEK RFLKRIRDLG EGHFGKVELC RYDPEGDNTG EQVAVKSLKP ESGGNHIADL KKEIEILRNL YHENIVKYKG ICTEDGGNGI KLIMEFLPSG SLKEYLPKNK NKINLKQQLK YAVQICKGMD YLGSRQYVHR DLAARNVLVE SEHQVKIGDF GLTKAIETDK EYYTVKDDRD SPVFWYAPEC LMQSKFYIAS DVWSFGVTLH ELLTYCDSDS SPMALFLKMI GPTHGQMTVT RLVNTLKEGK RLPCPPNCPD EVYQLMRKCW EFQPSNRTSF QNLIEGFEAL LK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3459 / 3459 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1153 / 1153 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3574 / 3574 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 116 / 116 | |||||||||||||
| Last intron/exon boundary | 3478 | |||||||||||||
| Theoretical NMD boundary in CDS | 3312 | |||||||||||||
| Length of CDS | 3459 | |||||||||||||
| Coding sequence (CDS) position | 3372 | |||||||||||||
| cDNA position | 3487 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000699262.1 | |||||||||||||
| Genbank transcript ID | NM_001320923 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3378A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3465 / 3465 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1155 / 1155 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3682 / 3682 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 218 / 218 | |||||||||||||
| Last intron/exon boundary | 3586 | |||||||||||||
| Theoretical NMD boundary in CDS | 3318 | |||||||||||||
| Length of CDS | 3465 | |||||||||||||
| Coding sequence (CDS) position | 3378 | |||||||||||||
| cDNA position | 3595 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000699312.1 | |||||||||||||
| Genbank transcript ID | NM_001321854 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3378A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT SFQNLIEGFE ALLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3465 / 3465 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1155 / 1155 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3846 / 3846 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 382 / 382 | |||||||||||||
| Last intron/exon boundary | 3750 | |||||||||||||
| Theoretical NMD boundary in CDS | 3318 | |||||||||||||
| Length of CDS | 3465 | |||||||||||||
| Coding sequence (CDS) position | 3378 | |||||||||||||
| cDNA position | 3759 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.01 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000699260.1 | |||||||||||||
| Genbank transcript ID | NM_001321857 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3375A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEVQGA QKQFKNFQIE VQKGRYSLHG SDRSFPSLGD LMSHLKKQIL RTDNISFMLK RCCQPKPREI SNLLVATKKA QEWQPVYPMS QLSFDRILKK DLVQGEHLGR GTRTHIYSGT LMDYKDDEGT SEEKKIKVIL KVLDPSHRDI SLAFFEAASM MRQVSHKHIV YLYGVCVRDV ENIMVEEFVE GGPLDLFMHR KSDVLTTPWK FKVAKQLASA LSYLEDKDLV HGNVCTKNLL LAREGIDSEC GPFIKLSDPG IPITVLSRQE CIERIPWIAP ECVEDSKNLS VAADKWSFGT TLWEICYNGE IPLKDKTLIE KERFYESRCR PVTPSCKELA DLMTRCMNYD PNQRPFFRAI MRDINKLEEQ NPDIVSEKKP ATEVDPTHFE KRFLKRIRDL GEGHFGKVEL CRYDPEGDNT GEQVAVKSLK PESGGNHIAD LKKEIEILRN LYHENIVKYK GICTEDGGNG IKLIMEFLPS GSLKEYLPKN KNKINLKQQL KYAVQICKGM DYLGSRQYVH RDLAARNVLV ESEHQVKIGD FGLTKAIETD KEYYTVKDDR DSPVFWYAPE CLMQSKFYIA SDVWSFGVTL HELLTYCDSD SSPMALFLKM IGPTHGQMTV TRLVNTLKEG KRLPCPPNCP DEVYQLMRKC WEFQPSNRTS FQNLIEGFEA LLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEVQGA QKQFKNFQIE VQKGRYSLHG SDRSFPSLGD LMSHLKKQIL RTDNISFMLK RCCQPKPREI SNLLVATKKA QEWQPVYPMS QLSFDRILKK DLVQGEHLGR GTRTHIYSGT LMDYKDDEGT SEEKKIKVIL KVLDPSHRDI SLAFFEAASM MRQVSHKHIV YLYGVCVRDV ENIMVEEFVE GGPLDLFMHR KSDVLTTPWK FKVAKQLASA LSYLEDKDLV HGNVCTKNLL LAREGIDSEC GPFIKLSDPG IPITVLSRQE CIERIPWIAP ECVEDSKNLS VAADKWSFGT TLWEICYNGE IPLKDKTLIE KERFYESRCR PVTPSCKELA DLMTRCMNYD PNQRPFFRAI MRDINKLEEQ NPDIVSEKKP ATEVDPTHFE KRFLKRIRDL GEGHFGKVEL CRYDPEGDNT GEQVAVKSLK PESGGNHIAD LKKEIEILRN LYHENIVKYK GICTEDGGNG IKLIMEFLPS GSLKEYLPKN KNKINLKQQL KYAVQICKGM DYLGSRQYVH RDLAARNVLV ESEHQVKIGD FGLTKAIETD KEYYTVKDDR DSPVFWYAPE CLMQSKFYIA SDVWSFGVTL HELLTYCDSD SSPMALFLKM IGPTHGQMTV TRLVNTLKEG KRLPCPPNCP DEVYQLMRKC WEFQPSNRTS FQNLIEGFEA LLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3462 / 3462 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1154 / 1154 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3776 / 3776 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 315 / 315 | |||||||||||||
| Last intron/exon boundary | 3680 | |||||||||||||
| Theoretical NMD boundary in CDS | 3315 | |||||||||||||
| Length of CDS | 3462 | |||||||||||||
| Coding sequence (CDS) position | 3375 | |||||||||||||
| cDNA position | 3689 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000699259.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3375A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEVQGA QKQFKNFQIE VQKGRYSLHG SDRSFPSLGD LMSHLKKQIL RTDNISFMLK RCCQPKPREI SNLLVATKKA QEWQPVYPMS QLSFDRILKK DLVQGEHLGR GTRTHIYSGT LMDYKDDEGT SEEKKIKVIL KVLDPSHRDI SLAFFEAASM MRQVSHKHIV YLYGVCVRDV ENIMVEEFVE GGPLDLFMHR KSDVLTTPWK FKVAKQLASA LSYLEDKDLV HGNVCTKNLL LAREGIDSEC GPFIKLSDPG IPITVLSRQE CIERIPWIAP ECVEDSKNLS VAADKWSFGT TLWEICYNGE IPLKDKTLIE KERFYESRCR PVTPSCKELA DLMTRCMNYD PNQRPFFRAI MRDINKLEEQ NPDIVSEKKP ATEVDPTHFE KRFLKRIRDL GEGHFGKVEL CRYDPEGDNT GEQVAVKSLK PESGGNHIAD LKKEIEILRN LYHENIVKYK GICTEDGGNG IKLIMEFLPS GSLKEYLPKN KNKINLKQQL KYAVQICKGM DYLGSRQYVH RDLAARNVLV ESEHQVKIGD FGLTKAIETD KEYYTVKDDR DSPVFWYAPE CLMQSKFYIA SDVWSFGVTL HELLTYCDSD SSPMALFLKM IGPTHGQMTV TRLVNTLKEG KRLPCPPNCP DEVYQLMRKC WEFQPSNRTS FQNLIEGFEA LLK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT CFEKSEVQGA QKQFKNFQIE VQKGRYSLHG SDRSFPSLGD LMSHLKKQIL RTDNISFMLK RCCQPKPREI SNLLVATKKA QEWQPVYPMS QLSFDRILKK DLVQGEHLGR GTRTHIYSGT LMDYKDDEGT SEEKKIKVIL KVLDPSHRDI SLAFFEAASM MRQVSHKHIV YLYGVCVRDV ENIMVEEFVE GGPLDLFMHR KSDVLTTPWK FKVAKQLASA LSYLEDKDLV HGNVCTKNLL LAREGIDSEC GPFIKLSDPG IPITVLSRQE CIERIPWIAP ECVEDSKNLS VAADKWSFGT TLWEICYNGE IPLKDKTLIE KERFYESRCR PVTPSCKELA DLMTRCMNYD PNQRPFFRAI MRDINKLEEQ NPDIVSEKKP ATEVDPTHFE KRFLKRIRDL GEGHFGKVEL CRYDPEGDNT GEQVAVKSLK PESGGNHIAD LKKEIEILRN LYHENIVKYK GICTEDGGNG IKLIMEFLPS GSLKEYLPKN KNKINLKQQL KYAVQICKGM DYLGSRQYVH RDLAARNVLV ESEHQVKIGD FGLTKAIETD KEYYTVKDDR DSPVFWYAPE CLMQSKFYIA SDVWSFGVTL HELLTYCDSD SSPMALFLKM IGPTHGQMTV TRLVNTLKEG KRLPCPPNCP DEVYQLMRKC WEFQPSNRTS FQNLIEGFEA LLK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3462 / 3462 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1154 / 1154 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3843 / 3843 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 382 / 382 | |||||||||||||
| Last intron/exon boundary | 3747 | |||||||||||||
| Theoretical NMD boundary in CDS | 3315 | |||||||||||||
| Length of CDS | 3462 | |||||||||||||
| Coding sequence (CDS) position | 3375 | |||||||||||||
| cDNA position | 3756 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:64834649T>C (GRCh38) | |||||||||||||
| Gene symbol | JAK1 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000699310.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3372A>G g.233106A>G | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCTTTTTACAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCTTTTTACAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Original cDNA sequence snippet | TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA | |||||||||||||
| Altered cDNA sequence snippet | TGTCCAGATGAGGTTTATCAGCTTATGAGGAAATGCTGGGA | |||||||||||||
| Wildtype AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QYDLVKCLAP IRDPKTEQDG HDIENECLGM AVLAISHYAM MKKMQLPELP KDISYKRYIP ETLNKSIRQR NLLTRMRINN VFKDFLKEFN NKTICDSSVS THDLKVKYLA TLETLTKHYG AEIFETSMLL ISSENEMNWF HSNDGGNVLY YEVMVTGNLG IQWRHKPNVV SVEKEKNKLK RKKLENKHKK DEEKNKIREE WNNFSYFPEI THIVIKESVV SINKQDNKKM ELKLSSHEEA LSFVSLVDGY FRLTADAHHY LCTDVAPPLI VHNIQNGCHG PICTEYAINK LRQEGSEEGM YVLRWSCTDF DNILMTVTCF EKSEQVQGAQ KQFKNFQIEV QKGRYSLHGS DRSFPSLGDL MSHLKKQILR TDNISFMLKR CCQPKPREIS NLLVATKKAQ EWQPVYPMSQ LSFDRILKKD LVQGEHLGRG TRTHIYSGTL MDYKDDEGTS EEKKIKVILK VLDPSHRDIS LAFFEAASMM RQVSHKHIVY LYGVCVRDVE NIMVEEFVEG GPLDLFMHRK SDVLTTPWKF KVAKQLASAL SYLEDKDLVH GNVCTKNLLL AREGIDSECG PFIKLSDPGI PITVLSRQEC IERIPWIAPE CVEDSKNLSV AADKWSFGTT LWEICYNGEI PLKDKTLIEK ERFYESRCRP VTPSCKELAD LMTRCMNYDP NQRPFFRAIM RDINKLEEQN PDIVSEKKPA TEVDPTHFEK RFLKRIRDLG EGHFGKVELC RYDPEGDNTG EQVAVKSLKP ESGGNHIADL KKEIEILRNL YHENIVKYKG ICTEDGGNGI KLIMEFLPSG SLKEYLPKNK NKINLKQQLK YAVQICKGMD YLGSRQYVHR DLAARNVLVE SEHQVKIGDF GLTKAIETDK EYYTVKDDRD SPVFWYAPEC LMQSKFYIAS DVWSFGVTLH ELLTYCDSDS SPMALFLKMI GPTHGQMTVT RLVNTLKEGK RLPCPPNCPD EVYQLMRKCW EFQPSNRTSF QNLIEGFEAL LK* | |||||||||||||
| Mutated AA sequence | MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QYDLVKCLAP IRDPKTEQDG HDIENECLGM AVLAISHYAM MKKMQLPELP KDISYKRYIP ETLNKSIRQR NLLTRMRINN VFKDFLKEFN NKTICDSSVS THDLKVKYLA TLETLTKHYG AEIFETSMLL ISSENEMNWF HSNDGGNVLY YEVMVTGNLG IQWRHKPNVV SVEKEKNKLK RKKLENKHKK DEEKNKIREE WNNFSYFPEI THIVIKESVV SINKQDNKKM ELKLSSHEEA LSFVSLVDGY FRLTADAHHY LCTDVAPPLI VHNIQNGCHG PICTEYAINK LRQEGSEEGM YVLRWSCTDF DNILMTVTCF EKSEQVQGAQ KQFKNFQIEV QKGRYSLHGS DRSFPSLGDL MSHLKKQILR TDNISFMLKR CCQPKPREIS NLLVATKKAQ EWQPVYPMSQ LSFDRILKKD LVQGEHLGRG TRTHIYSGTL MDYKDDEGTS EEKKIKVILK VLDPSHRDIS LAFFEAASMM RQVSHKHIVY LYGVCVRDVE NIMVEEFVEG GPLDLFMHRK SDVLTTPWKF KVAKQLASAL SYLEDKDLVH GNVCTKNLLL AREGIDSECG PFIKLSDPGI PITVLSRQEC IERIPWIAPE CVEDSKNLSV AADKWSFGTT LWEICYNGEI PLKDKTLIEK ERFYESRCRP VTPSCKELAD LMTRCMNYDP NQRPFFRAIM RDINKLEEQN PDIVSEKKPA TEVDPTHFEK RFLKRIRDLG EGHFGKVELC RYDPEGDNTG EQVAVKSLKP ESGGNHIADL KKEIEILRNL YHENIVKYKG ICTEDGGNGI KLIMEFLPSG SLKEYLPKNK NKINLKQQLK YAVQICKGMD YLGSRQYVHR DLAARNVLVE SEHQVKIGDF GLTKAIETDK EYYTVKDDRD SPVFWYAPEC LMQSKFYIAS DVWSFGVTLH ELLTYCDSDS SPMALFLKMI GPTHGQMTVT RLVNTLKEGK RLPCPPNCPD EVYQLMRKCW EFQPSNRTSF QNLIEGFEAL LK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3459 / 3459 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1153 / 1153 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3755 / 3755 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 297 / 297 | |||||||||||||
| Last intron/exon boundary | 3659 | |||||||||||||
| Theoretical NMD boundary in CDS | 3312 | |||||||||||||
| Length of CDS | 3459 | |||||||||||||
| Coding sequence (CDS) position | 3372 | |||||||||||||
| cDNA position | 3668 | |||||||||||||
| gDNA position | 233106 | |||||||||||||
| Chromosomal position | 64834649 | |||||||||||||
| Speed | 0.01 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project