| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KDM6A | Benign | 22|77 | 5utr | No | Insertion | N/A |
| ||||||
| KDM6A | Benign | 22|77 | 5utr | No | Insertion | N/A |
| ||||||
| KDM6A | Benign | 22|77 | 5utr | No | Insertion | N/A |
| ||||||
| KDM6A | Benign | 22|77 | 5utr | No | Insertion | N/A |
| ||||||
ENST00000611820(MANE Select) | KDM6A | Benign | 22|77 | 5utr | No | Insertion | N/A |
| |||||
| KDM6A | Benign | 22|77 | 5utr | No | Insertion | N/A |
| ||||||
| KDM6A | Benign | 22|77 | 5utr | No | Insertion | N/A |
| ||||||
| KDM6A | Benign | 22|77 | 5utr | No | Insertion | N/A |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:44873369_44873370insGCC (GRCh38) | |||||||||||||
| Gene symbol | KDM6A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000674586.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Insertion | |||||||||||||
| Gene region | 5'UTR | |||||||||||||
| DNA changes | cDNA.182_183insGCC g.182_183insGCC | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Original cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Wildtype AA sequence | MKSCGVSLAT AAAAAAAFGD EEKKMAAGKA SGESEEASPS LTAEEREALG GLDSRLFGFV RFHEDGARTK ALLGKAVRCY ESLILKAEGK VESDFFCQLG HFNLLLEDYP KALSAYQRYY SLQSDYWKMR NPWIQRAHCI PLDQYTTNAA FLYGLGLVYF HYNAFQWAIK AFQEVLYVDP SFCRAKEIHL RLGLMFKVNT DYESSLKHFQ LALVDCNPCT LSNAEIQFHI AHLYETQRKY HSAKEAYEQL LQTENLSAQV KATVLQQLGW MHHTVDLLGD KATKESYAIQ YLQKSLEADP NSGQSWYFLG RCYSSIGKVQ DAFISYRQSI DKSEASADTW CSIGVLYQQQ NQPMDALQAY ICAVQLDHGH AAAWMDLGTL YESCNQPQDA IKCYLNATRS KSCSNTSALA ARIKYLQACK PHHPNTEPVL GLSQTPISQQ SLPLHMIPSS QVDDLSSPAK RKRTSSPTKN TSDNWSGGHA VSHPPVQQQA HSWCLTPQKL QHLEQLRANR NNLNPAQKLM LEQLESQFVL MQQHQMRPTG VAQVRSTGIP NGPTADSSLP TNSVSGQQPQ LALTRVPSVS QPGVRPACPG QPLANGPFSA GHVPCSTSRT LGSTDTILIG NNHITGSGSN GNVPYLQRNA LTLPHNRTNL TSSAEEPWKN QLSNSTQGLH KGQSSHSAGP NGERPLSSTG PSQHLQAAGS GIQNQNGHPT LPSNSVTQGA ALNHLSSHTA TSGGQQGITL TKESKPSGNI LTVPETSRHT GETPNSTASV EGLPNHVHQM TADAVCSPSH GDSKSPGLLS SDNPQLSALL MGKANNNVGT GTCDKVNNIH PAVHTKTDNS VASSPSSAIS TATPSPKSTE QTTTNSVTSL NSPHSGLHTI NGEGMEESQS PMKTDLLLVN HKPSPQIIPS MSVSIYPSSA EVLKACRNLG KNGLSNSSIL LDKCPPPRPP SSPYPPLPKD KLNPPTPSIY LENKRDAFFP PLHQFCTNPN NPVTVIRGLA GALKLDLGLF STKTLVEANN EHMVEVRTQL LQPADENWDP TGTKKIWHCE SNRSHTTIAK YAQYQASSFQ ESLREENEKR SHHKDHSDSE STSSDNSGRR RKGPFKTIKF GTNIDLSDDK KWKLQLHELT KLPAFVRVVS AGNLLSHVGH TILGMNTVQL YMKVPGSRTP GHQENNNFCS VNINIGPGDC EWFVVPEGYW GVLNDFCEKN NLNFLMGSWW PNLEDLYEAN VPVYRFIQRP GDLVWINAGT VHWVQAIGWC NNIAWNVGPL TACQYKLAVE RYEWNKLQSV KSIVPMVHLS WNMARNIKVS DPKLFEMIKY CLLRTLKQCQ TLREALIAAG KEIIWHGRTK EEPAHYCSIC EVEVFDLLFV TNESNSRKTY IVHCQDCARK TSGNLENFVV LEQYKMEDLM QVYDQFTLAP PLPSASS* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 365 / 365 | |||||||||||||
| Last intron/exon boundary | 4618 | |||||||||||||
| Theoretical NMD boundary in CDS | 4203 | |||||||||||||
| Length of CDS | 4284 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 182 / 183 | |||||||||||||
| gDNA position | 182 / 183 | |||||||||||||
| Chromosomal position | 44873369 / 44873370 | |||||||||||||
| 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 | ChrX:44873369_44873370insGCC (GRCh38) | |||||||||||||
| Gene symbol | KDM6A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000674867.1 | |||||||||||||
| Genbank transcript ID | NM_001291421 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Insertion | |||||||||||||
| Gene region | 5'UTR | |||||||||||||
| DNA changes | cDNA.182_183insGCC g.182_183insGCC | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Original cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Wildtype AA sequence | MKSCGVSLAT AAAAAAAFGD EEKKMAAGKA SGESEEASPS LTAEEREALG GLDSRLFGFV RFHEDGARTK ALLGKNAAFL YGLGLVYFHY NAFQWAIKAF QEVLYVDPSF CRAKEIHLRL GLMFKVNTDY ESSLKHFQLA LVDCNPCTLS NAEIQFHIAH LYETQRKYHS AKEAYEQLLQ TENLSAQVKA TVLQQLGWMH HTVDLLGDKA TKESYAIQYL QKSLEADPNS GQSWYFLGRC YSSIGKVQDA FISYRQSIDK SEASADTWCS IGVLYQQQNQ PMDALQAYIC AVQLDHGHAA AWMDLGTLYE SCNQPQDAIK CYLNATRSKS CSNTSALAAR IKYLQACKPH HPNTEPVLGL SQTPISQQSL PLHMIPSSQV DDLSSPAKRK RTSSPTKNTS DNWSGGHAVS HPPVQQQAHS WCLTPQKLQH LEQLRANRNN LNPAQKLMLE QLESQFVLMQ QHQMRPTGVA QVRSTGIPNG PTADSSLPTN SVSGQQPQLA LTRVPSVSQP GVRPACPGQP LANGPFSAGH VPCSTSRTLG STDTILIGNN HITGSGSNGN VPYLQRNALT LPHNRTNLTS SAEEPWKNQL SNSTQGLHKG QSSHSAGPNG ERPLSSTGPS QHLQAAGSGI QNQNGHPTLP SNSVTQGAAL NHLSSHTATS GGQQGITLTK ESKPSGNILT VPETSRHTGE TPNSTASVEG LPNHVHQMTA DAVCSPSHGD SKSPGLLSSD NPQLSALLMG KANNNVGTGT CDKVNNIHPA VHTKTDNSVA SSPSSAISTA TPSPKSTEQT TTNSVTSLNS PHSGLHTING EGMEESQSPM KTDLLLVNHK PSPQIIPSMS VSIYPSSAEV LKACRNLGKN GLSNSSILLD KCPPPRPPSS PYPPLPKDKL NPPTPSIYLE NKRDAFFPPL HQFCTNPNNP VTVIRGLAGA LKLDLGLFST KTLVEANNEH MVEVRTQLLQ PADENWDPTG TKKIWHCESN RSHTTIAKYA QYQASSFQES LREENEKRSH HKDHSDSEST SSDNSGRRRK GPFKTIKFGT NIDLSDDKKW KLQLHELTKL PAFVRVVSAG NLLSHVGHTI LGMNTVQLYM KVPGSRTPGH QENNNFCSVN INIGPGDCEW FVVPEGYWGV LNDFCEKNNL NFLMGSWWPN LEDLYEANVP VYRFIQRPGD LVWINAGTVH WVQAIGWCNN IAWNVGPLTA CQYKLAVERY EWNKLQSVKS IVPMVHLSWN MARNIKVSDP KLFEMIKYCL LRTLKQCQTL REALIAAGKE IIWHGRTKEE PAHYCSICEV EVFDLLFVTN ESNSRKTYIV HCQDCARKTS GNLENFVVLE QYKMEDLMQV YDQFTLAPPL PSASS* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 365 / 365 | |||||||||||||
| Last intron/exon boundary | 4402 | |||||||||||||
| Theoretical NMD boundary in CDS | 3987 | |||||||||||||
| Length of CDS | 4068 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 182 / 183 | |||||||||||||
| gDNA position | 182 / 183 | |||||||||||||
| Chromosomal position | 44873369 / 44873370 | |||||||||||||
| 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 | ChrX:44873369_44873370insGCC (GRCh38) | |||||||||||||
| Gene symbol | KDM6A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000675577.1 | |||||||||||||
| Genbank transcript ID | NM_001419814 (by similarity), NM_001410742 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Insertion | |||||||||||||
| Gene region | 5'UTR | |||||||||||||
| DNA changes | cDNA.182_183insGCC g.182_183insGCC | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Original cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Wildtype AA sequence | MKSCGVSLAT AAAAAAAFGD EEKKMAAGKA SGESEEASPS LTAEEREALG GLDSRLFGFV RFHEDGARTK ALLGKAVRCY ESLILKAEGK VESDFFCQLG HFNLLLEDYP KALSAYQRYY SLQSDYWKNA AFLYGLGLVY FHYNAFQWAI KAFQEVLYVD PSFCRAKEIH LRLGLMFKVN TDYESSLKHF QLALVDCNPC TLSNAEIQFH IAHLYETQRK YHSAKEAYEQ LLQTENLSAQ VKATVLQQLG WMHHTVDLLG DKATKESYAI QYLQKSLEAD PNSGQSWYFL GRCYSSIGKV QDAFISYRQS IDKSEASADT WCSIGVLYQQ QNQPMDALQA YICAVQLDHG HAAAWMDLGT LYESCNQPQD AIKCYLNATR SKSCSNTSAL AARIKYLQAQ LCNLPQGSLQ NKTKLLPSIE EAWSLPIPAE LTSRQGAMNT AQQNTSDNWS GGHAVSHPPV QQQAHSWCLT PQKLQMRPTG VAQVRSTGIP NGPTADSSLP TNSVSGQQPQ LALTRVPSVS QPGVRPACPG QPLANGPFSA GHVPCSTSRT LGSTDTILIG NNHITGSGSN GNVPYLQRNA LTLPHNRTNL TSSAEEPWKN QLSNSTQGLH KGQSSHSAGP NGERPLSSTG PSQHLQAAGS GIQNQNGHPT LPSNSVTQGA ALNHLSSHTA TSGGQQGITL TKESKPSGNI LTVPETSRHT GETPNSTASV EGLPNHVHQM TADAVCSPSH GDSKSPGLLS SDNPQLSALL MGKANNNVGT GTCDKVNNIH PAVHTKTDNS VASSPSSAIS TATPSPKSTE QTTTNSVTSL NSPHSGLHTI NGEGMEESQS PMKTDLLLVN HKPSPQIIPS MSVSIYPSSA EVLKACRNLG KNGLSNSSIL LDKCPPPRPP SSPYPPLPKD KLNPPTPSIY LENKRDAFFP PLHQFCTNPN NPVTVIRGLA GALKLDLGLF STKTLVEANN EHMVEVRTQL LQPADENWDP TGTKKIWHCE SNRSHTTIAK YAQYQASSFQ ESLREENEKR SHHKDHSDSE STSSDNSGRR RKGPFKTIKF GTNIDLSDDK KWKLQLHELT KLPAFVRVVS AGNLLSHVGH TILGMNTVQL YMKVPGSRTP GHQENNNFCS VNINIGPGDC EWFVVPEGYW GVLNDFCEKN NLNFLMGSWW PNLEDLYEAN VPVYRFIQRP GDLVWINAGT VHWVQAIGWC NNIAWNVGPL TACQYKLAVE RYEWNKLQSV KSIVPMVHLS WNMARNIKVS DPKLFEMIKY CLLRTLKQCQ TLREALIAAG KEIIWHGRTK EEPAHYCSIC EVEVFDLLFV TNESNSRKTY IVHCQDCARK TSGNLENFVV LEQYKMEDLM QVYDQFTLAP PLPSASS* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 365 / 365 | |||||||||||||
| Last intron/exon boundary | 4438 | |||||||||||||
| Theoretical NMD boundary in CDS | 4023 | |||||||||||||
| Length of CDS | 4104 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 182 / 183 | |||||||||||||
| gDNA position | 182 / 183 | |||||||||||||
| Chromosomal position | 44873369 / 44873370 | |||||||||||||
| 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 | ChrX:44873369_44873370insGCC (GRCh38) | |||||||||||||
| Gene symbol | KDM6A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000382899.9 | |||||||||||||
| Genbank transcript ID | NM_001419811 (by similarity), NM_001291416 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Insertion | |||||||||||||
| Gene region | 5'UTR | |||||||||||||
| DNA changes | cDNA.182_183insGCC g.182_183insGCC | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Original cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Wildtype AA sequence | MKSCGVSLAT AAAAAAAFGD EEKKMAAGKA SGESEEASPS LTAEEREALG GLDSRLFGFV RFHEDGARTK ALLGKAVRCY ESLILKAEGK VESDFFCQLG HFNLLLEDYP KALSAYQRYY SLQSDYWKNA AFLYGLGLVY FHYNAFQWAI KAFQEVLYVD PSFCRAKEIH LRLGLMFKVN TDYESSLKHF QLALVDCNPC TLSNAEIQFH IAHLYETQRK YHSAKEAYEQ LLQTENLSAQ VKATVLQQLG WMHHTVDLLG DKATKESYAI QYLQKSLEAD PNSGQSWYFL GRCYSSIGKV QDAFISYRQS IDKSEASADT WCSIGVLYQQ QNQPMDALQA YICAVQLDHG HAAAWMDLGT LYESCNQPQD AIKCYLNATR SKSCSNTSAL AARIKYLQAC KPHHPNTEPV LGLSQTPISQ QSLPLHMIPS SQVDDLSSPA KRKRTSSPTK NTSDNWSGGH AVSHPPVQQQ AHSWCLTPQK LQHLEQLRAN RNNLNPAQKL MLEQLESQFV LMQQHQMRPT GVAQVRSTGI PNGPTADSSL PTNSVSGQQP QLALTRVPSV SQPGVRPACP GQPLANGPFS AGHVPCSTSR TLGSTDTILI GNNHITGSGS NGNVPYLQRN ALTLPHNRTN LTSSAEEPWK NQLSNSTQGL HKGQSSHSAG PNGERPLSST GPSQHLQAAG SGIQNQNGHP TLPSNSVTQG AALNHLSSHT ATSGGQQGIT LTKESKPSGN ILTVPETSRH TGETPNSTAS VEGLPNHVHQ MTADAVCSPS HGDSKSPGLL SSDNPQLSAL LMGKANNNVG TGTCDKVNNI HPAVHTKTDN SVASSPSSAI STATPSPKST EQTTTNSVTS LNSPHSGLHT INGEGMEESQ SPMKTDLLLV NHKPSPQIIP SMSVSIYPSS AEVLKACRNL GKNGLSNSSI LLDKCPPPRP PSSPYPPLPK DKLNPPTPSI YLENKRDAFF PPLHQFCTNP NNPVTVIRGL AGALKLDLGL FSTKTLVEAN NEHMVEVRTQ LLQPADENWD PTGTKKIWHC ESNRSHTTIA KYAQYQASSF QESLREENEK RSHHKDHSDS ESTSSDNSGR RRKGPFKTIK FGTNIDLSDD KKWKLQLHEL TKLPAFVRVV SAGNLLSHVG HTILGMNTVQ LYMKVPGSRT PGHQENNNFC SVNINIGPGD CEWFVVPEGY WGVLNDFCEK NNLNFLMGSW WPNLEDLYEA NVPVYRFIQR PGDLVWINAG TVHWVQAIGW CNNIAWNVGP LTACQYKLAV ERYEWNKLQS VKSIVPMVHL SWNMARNIKV SDPKLFEMIK YCLLRTLKQC QTLREALIAA GKEIIWHGRT KEEPAHYCSI CEVEVFDLLF VTNESNSRKT YIVHCQDCAR KTSGNLENFV VLEQYKMEDL MQVYDQFTLA PPLPSASS* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 365 / 365 | |||||||||||||
| Last intron/exon boundary | 4561 | |||||||||||||
| Theoretical NMD boundary in CDS | 4146 | |||||||||||||
| Length of CDS | 4227 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 182 / 183 | |||||||||||||
| gDNA position | 182 / 183 | |||||||||||||
| Chromosomal position | 44873369 / 44873370 | |||||||||||||
| 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 | ChrX:44873369_44873370insGCC (GRCh38) | |||||||||||||
| Gene symbol | KDM6A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000611820.5 | |||||||||||||
| Genbank transcript ID | NM_001291415 (exact from MANE), NM_001419809 (by similarity), NM_001419810 (by similarity), NM_001419813 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Insertion | |||||||||||||
| Gene region | 5'UTR | |||||||||||||
| DNA changes | cDNA.182_183insGCC g.182_183insGCC | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Original cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Wildtype AA sequence | MKSCGVSLAT AAAAAAAFGD EEKKMAAGKA SGESEEASPS LTAEEREALG GLDSRLFGFV RFHEDGARTK ALLGKAVRCY ESLILKAEGK VESDFFCQLG HFNLLLEDYP KALSAYQRYY SLQSDYWKNA AFLYGLGLVY FHYNAFQWAI KAFQEVLYVD PSFCRAKEIH LRLGLMFKVN TDYESSLKHF QLALVDCNPC TLSNAEIQFH IAHLYETQRK YHSAKEAYEQ LLQTENLSAQ VKATVLQQLG WMHHTVDLLG DKATKESYAI QYLQKSLEAD PNSGQSWYFL GRCYSSIGKV QDAFISYRQS IDKSEASADT WCSIGVLYQQ QNQPMDALQA YICAVQLDHG HAAAWMDLGT LYESCNQPQD AIKCYLNATR SKSCSNTSAL AARIKYLQAQ LCNLPQGSLQ NKTKLLPSIE EAWSLPIPAE LTSRQGAMNT AQQACKPHHP NTEPVLGLSQ TPISQQSLPL HMIPSSQVDD LSSPAKRKRT SSPTKNTSDN WSGGHAVSHP PVQQQAHSWC LTPQKLQHLE QLRANRNNLN PAQKLMLEQL ESQFVLMQQH QMRPTGVAQV RSTGIPNGPT ADSSLPTNSV SGQQPQLALT RVPSVSQPGV RPACPGQPLA NGPFSAGHVP CSTSRTLGST DTILIGNNHI TGSGSNGNVP YLQRNALTLP HNRTNLTSSA EEPWKNQLSN STQGLHKGQS SHSAGPNGER PLSSTGPSQH LQAAGSGIQN QNGHPTLPSN SVTQGAALNH LSSHTATSGG QQGITLTKES KPSGNILTVP ETSRHTGETP NSTASVEGLP NHVHQMTADA VCSPSHGDSK SPGLLSSDNP QLSALLMGKA NNNVGTGTCD KVNNIHPAVH TKTDNSVASS PSSAISTATP SPKSTEQTTT NSVTSLNSPH SGLHTINGEG MEESQSPMKT DLLLVNHKPS PQIIPSMSVS IYPSSAEVLK ACRNLGKNGL SNSSILLDKC PPPRPPSSPY PPLPKDKLNP PTPSIYLENK RDAFFPPLHQ FCTNPNNPVT VIRGLAGALK LDLGLFSTKT LVEANNEHMV EVRTQLLQPA DENWDPTGTK KIWHCESNRS HTTIAKYAQY QASSFQESLR EENEKRSHHK DHSDSESTSS DNSGRRRKGP FKTIKFGTNI DLSDDKKWKL QLHELTKLPA FVRVVSAGNL LSHVGHTILG MNTVQLYMKV PGSRTPGHQE NNNFCSVNIN IGPGDCEWFV VPEGYWGVLN DFCEKNNLNF LMGSWWPNLE DLYEANVPVY RFIQRPGDLV WINAGTVHWV QAIGWCNNIA WNVGPLTACQ YKLAVERYEW NKLQSVKSIV PMVHLSWNMA RNIKVSDPKL FEMIKYCLLR TLKQCQTLRE ALIAAGKEII WHGRTKEEPA HYCSICEVEV FDLLFVTNES NSRKTYIVHC QDCARKTSGN LENFVVLEQY KMEDLMQVYD QFTLAPPLPS ASS* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 365 / 365 | |||||||||||||
| Last intron/exon boundary | 4696 | |||||||||||||
| Theoretical NMD boundary in CDS | 4281 | |||||||||||||
| Length of CDS | 4362 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 182 / 183 | |||||||||||||
| gDNA position | 182 / 183 | |||||||||||||
| Chromosomal position | 44873369 / 44873370 | |||||||||||||
| 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 | ChrX:44873369_44873370insGCC (GRCh38) | |||||||||||||
| Gene symbol | KDM6A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000536777.6 | |||||||||||||
| Genbank transcript ID | NM_001291417 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Insertion | |||||||||||||
| Gene region | 5'UTR | |||||||||||||
| DNA changes | cDNA.182_183insGCC g.182_183insGCC | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Original cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Wildtype AA sequence | MKSCGVSLAT AAAAAAAFGD EEKKMAAGKA SGESEEASPS LTAEEREALG GLDSRLFGFV RFHEDGARTK ALLGKAVRCY ESLILKAEGK VESDFFCQLG HFNLLLEDYP KALSAYQRYY SLQSDYWKNA AFLYGLGLVY FHYNAFQWAI KAFQEVLYVD PSFCRAKEIH LRLGLMFKVN TDYESSLKHF QLALVDCNPC TLSNAEIQFH IAHLYETQRK YHSAKEAYEQ LLQTENLSAQ VKATVLQQLG WMHHTVDLLG DKATKESYAI QYLQKSLEAD PNSGQSWYFL GRCYSSIGKV QDAFISYRQS IDKSEASADT WCSIGVLYQQ QNQPMDALQA YICAVQLDHG HAAAWMDLGT LYESCNQPQD AIKCYLNATR SKSCSNTSAL AARIKYLQNT SDNWSGGHAV SHPPVQQQAH SWCLTPQKLQ HLEQLRANRN NLNPAQKLML EQLESQFVLM QQHQMRPTGV AQVRSTGIPN GPTADSSLPT NSVSGQQPQL ALTRVPSVSQ PGVRPACPGQ PLANGPFSAG HVPCSTSRTL GSTDTILIGN NHITGSGSNG NVPYLQRNAL TLPHNRTNLT SSAEEPWKNQ LSNSTQGLHK GQSSHSAGPN GERPLSSTGP SQHLQAAGSG IQNQNGHPTL PSNSVTQGAA LNHLSSHTAT SGGQQGITLT KESKPSGNIL TVPETSRHTG ETPNSTASVE GLPNHVHQMT ADAVCSPSHG DSKSPGLLSS DNPQLSALLM GKANNNVGTG TCDKVNNIHP AVHTKTDNSV ASSPSSAIST ATPSPKSTEQ TTTNSVTSLN SPHSGLHTIN GEGMEESQSP MKTDLLLVNH KPSPQIIPSM SVSIYPSSAE VLKACRNLGK NGLSNSSILL DKCPPPRPPS SPYPPLPKDK LNPPTPSIYL ENKRDAFFPP LHQFCTNPNN PVTVIRGLAG ALKLDLGLFS TKTLVEANNE HMVEVRTQLL QPADENWDPT GTKKIWHCES NRSHTTIAKY AQYQASSFQE SLREENEKRS HHKDHSDSES TSSDNSGRRR KGPFKTIKFG TNIDLSDDKK WKLQLHELTK LPAFVRVVSA GNLLSHVGHT ILGMNTVQLY MKVPGSRTPG HQENNNFCSV NINIGPGDCE WFVVPEGYWG VLNDFCEKNN LNFLMGSWWP NLEDLYEANV PVYRFIQRPG DLVWINAGTV HWVQAIGWCN NIAWNVGPLT ACQYKLAVER YEWNKLQSVK SIVPMVHLSW NMARNIKVSD PKLFEMIKYC LLRTLKQCQT LREALIAAGK EIIWHGRTKE EPAHYCSICE VEVFDLLFVT NESNSRKTYI VHCQDCARKT SGNLENFVVL EQYKMEDLMQ VYDQFTLAPP LPSASS* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 365 / 365 | |||||||||||||
| Last intron/exon boundary | 4405 | |||||||||||||
| Theoretical NMD boundary in CDS | 3990 | |||||||||||||
| Length of CDS | 4071 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 182 / 183 | |||||||||||||
| gDNA position | 182 / 183 | |||||||||||||
| Chromosomal position | 44873369 / 44873370 | |||||||||||||
| 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 | ChrX:44873369_44873370insGCC (GRCh38) | |||||||||||||
| Gene symbol | KDM6A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000543216.6 | |||||||||||||
| Genbank transcript ID | NM_001419815 (by similarity), NM_001291418 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Insertion | |||||||||||||
| Gene region | 5'UTR | |||||||||||||
| DNA changes | cDNA.182_183insGCC g.182_183insGCC | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Original cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Wildtype AA sequence | MKSCGVSLAT AAAAAAAFGD EEKKMAAGKA SGESEEASPS LTAEEREALG GLDSRLFGFV RFHEDGARTK ALLGKAVRCY ESLILKAEGK VESDFFCQLG HFNLLLEDYP KALSAYQRYY SLQSDYWKNA AFLYGLGLVY FHYNAFQWAI KAFQEVLYVD PSFCRAKEIH LRLGLMFKVN TDYESSLKHF QLALVDCNPC TLSNAEIQFH IAHLYETQRK YHSAKEAYEQ LLQTENLSAQ VKATVLQQLG WMHHTVDLLG DKATKESYAI QYLQKSLEAD PNSGQSWYFL GRCYSSIGKV QDAFISYRQS IDKSEASADT WCSIGVLYQQ QNQPMDALQA YICAVQLDHG HAAAWMDLGT LYESCNQPQD AIKCYLNATR SKSCSNTSAL AARIKYLQNT SDNWSGGHAV SHPPVQQQAH SWCLTPQKLQ MRPTGVAQVR STGIPNGPTA DSSLPTNSVS GQQPQLALTR VPSVSQPGVR PACPGQPLAN GPFSAGHVPC STSRTLGSTD TILIGNNHIT GSGSNGNVPY LQRNALTLPH NRTNLTSSAE EPWKNQLSNS TQGLHKGQSS HSAGPNGERP LSSTGPSQHL QAAGSGIQNQ NGHPTLPSNS VTQGAALNHL SSHTATSGGQ QGITLTKESK PSGNILTVPE TSRHTGETPN STASVEGLPN HVHQMTADAV CSPSHGDSKS PGLLSSDNPQ LSALLMGKAN NNVGTGTCDK VNNIHPAVHT KTDNSVASSP SSAISTATPS PKSTEQTTTN SVTSLNSPHS GLHTINGEGM EESQSPMKTD LLLVNHKPSP QIIPSMSVSI YPSSAEVLKA CRNLGKNGLS NSSILLDKCP PPRPPSSPYP PLPKDKLNPP TPSIYLENKR DAFFPPLHQF CTNPNNPVTV IRGLAGALKL DLGLFSTKTL VEANNEHMVE VRTQLLQPAD ENWDPTGTKK IWHCESNRSH TTIAKYAQYQ ASSFQESLRE ENEKRSHHKD HSDSESTSSD NSGRRRKGPF KTIKFGTNID LSDDKKWKLQ LHELTKLPAF VRVVSAGNLL SHVGHTILGM NTVQLYMKVP GSRTPGHQEN NNFCSVNINI GPGDCEWFVV PEGYWGVLND FCEKNNLNFL MGSWWPNLED LYEANVPVYR FIQRPGDLVW INAGTVHWVQ AIGWCNNIAW NVGPLTACQY KLAVERYEWN KLQSVKSIVP MVHLSWNMAR NIKVSDPKLF EMIKYCLLRT LKQCQTLREA LIAAGKEIIW HGRTKEEPAH YCSICEVEVF DLLFVTNESN SRKTYIVHCQ DCARKTSGNL ENFVVLEQYK MEDLMQVYDQ FTLAPPLPSA SS* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 365 / 365 | |||||||||||||
| Last intron/exon boundary | 4303 | |||||||||||||
| Theoretical NMD boundary in CDS | 3888 | |||||||||||||
| Length of CDS | 3969 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 182 / 183 | |||||||||||||
| gDNA position | 182 / 183 | |||||||||||||
| Chromosomal position | 44873369 / 44873370 | |||||||||||||
| 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 | ChrX:44873369_44873370insGCC (GRCh38) | |||||||||||||
| Gene symbol | KDM6A | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000377967.9 | |||||||||||||
| Genbank transcript ID | NM_001419812 (by similarity), NM_021140 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Insertion | |||||||||||||
| Gene region | 5'UTR | |||||||||||||
| DNA changes | cDNA.182_183insGCC g.182_183insGCC | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 23 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered gDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Original cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Altered cDNA sequence snippet | CCGGGGGCTCCGCAGCCCCTGCCGCCGCCGCCGCCGCCGCCTT | |||||||||||||
| Wildtype AA sequence | MKSCGVSLAT AAAAAAAFGD EEKKMAAGKA SGESEEASPS LTAEEREALG GLDSRLFGFV RFHEDGARTK ALLGKAVRCY ESLILKAEGK VESDFFCQLG HFNLLLEDYP KALSAYQRYY SLQSDYWKNA AFLYGLGLVY FHYNAFQWAI KAFQEVLYVD PSFCRAKEIH LRLGLMFKVN TDYESSLKHF QLALVDCNPC TLSNAEIQFH IAHLYETQRK YHSAKEAYEQ LLQTENLSAQ VKATVLQQLG WMHHTVDLLG DKATKESYAI QYLQKSLEAD PNSGQSWYFL GRCYSSIGKV QDAFISYRQS IDKSEASADT WCSIGVLYQQ QNQPMDALQA YICAVQLDHG HAAAWMDLGT LYESCNQPQD AIKCYLNATR SKSCSNTSAL AARIKYLQAQ LCNLPQGSLQ NKTKLLPSIE EAWSLPIPAE LTSRQGAMNT AQQNTSDNWS GGHAVSHPPV QQQAHSWCLT PQKLQHLEQL RANRNNLNPA QKLMLEQLES QFVLMQQHQM RPTGVAQVRS TGIPNGPTAD SSLPTNSVSG QQPQLALTRV PSVSQPGVRP ACPGQPLANG PFSAGHVPCS TSRTLGSTDT ILIGNNHITG SGSNGNVPYL QRNALTLPHN RTNLTSSAEE PWKNQLSNST QGLHKGQSSH SAGPNGERPL SSTGPSQHLQ AAGSGIQNQN GHPTLPSNSV TQGAALNHLS SHTATSGGQQ GITLTKESKP SGNILTVPET SRHTGETPNS TASVEGLPNH VHQMTADAVC SPSHGDSKSP GLLSSDNPQL SALLMGKANN NVGTGTCDKV NNIHPAVHTK TDNSVASSPS SAISTATPSP KSTEQTTTNS VTSLNSPHSG LHTINGEGME ESQSPMKTDL LLVNHKPSPQ IIPSMSVSIY PSSAEVLKAC RNLGKNGLSN SSILLDKCPP PRPPSSPYPP LPKDKLNPPT PSIYLENKRD AFFPPLHQFC TNPNNPVTVI RGLAGALKLD LGLFSTKTLV EANNEHMVEV RTQLLQPADE NWDPTGTKKI WHCESNRSHT TIAKYAQYQA SSFQESLREE NEKRSHHKDH SDSESTSSDN SGRRRKGPFK TIKFGTNIDL SDDKKWKLQL HELTKLPAFV RVVSAGNLLS HVGHTILGMN TVQLYMKVPG SRTPGHQENN NFCSVNINIG PGDCEWFVVP EGYWGVLNDF CEKNNLNFLM GSWWPNLEDL YEANVPVYRF IQRPGDLVWI NAGTVHWVQA IGWCNNIAWN VGPLTACQYK LAVERYEWNK LQSVKSIVPM VHLSWNMARN IKVSDPKLFE MIKYCLLRTL KQCQTLREAL IAAGKEIIWH GRTKEEPAHY CSICEVEVFD LLFVTNESNS RKTYIVHCQD CARKTSGNLE NFVVLEQYKM EDLMQVYDQF TLAPPLPSAS S* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 365 / 365 | |||||||||||||
| Last intron/exon boundary | 4540 | |||||||||||||
| Theoretical NMD boundary in CDS | 4125 | |||||||||||||
| Length of CDS | 4206 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 182 / 183 | |||||||||||||
| gDNA position | 182 / 183 | |||||||||||||
| Chromosomal position | 44873369 / 44873370 | |||||||||||||
| 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