| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000259008(MANE Select) | BRIP1 | Deleterious | 90|10 | simple_ | No | Single base exchange | Normal |
| |||||
| BRIP1 | Deleterious | 92|8 | simple_ | No | Single base exchange | Normal |
| ||||||
| BRIP1 | Deleterious | 92|8 | simple_ | No | Single base exchange | Normal |
| ||||||
| BRIP1 | Deleterious | 92|8 | simple_ | No | Single base exchange | Normal |
| ||||||
| BRIP1 | Deleterious | 92|8 | simple_ | No | Single base exchange | Normal |
| ||||||
| BRIP1 | Deleterious | 93|7 | simple_ | No | Single base exchange | Normal |
| ||||||
| BRIP1 | Deleterious | 93|7 | simple_ | No | Single base exchange | Normal |
| ||||||
| BRIP1 | Deleterious | 186|14 | without_ | No | Single base exchange | N/A |
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr17:61801260C>T (GRCh38) | ||||||||||||||||
| Gene symbol | BRIP1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.85, LOF (oe): 0.70, misssense (oe): 0.82, synonymous (oe): 0.85 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000259008.7 | ||||||||||||||||
| Genbank transcript ID | NM_032043 (exact from MANE) | ||||||||||||||||
| UniProt / AlphaMissense peptide | FANCJ_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1133G>A g.62300G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | 8 | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 17 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTGTGAGTATATGTG | ||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTGTGAGTATATGTG | ||||||||||||||||
| Original cDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTATGGATTTAAATC | ||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTATGGATTTAAATC | ||||||||||||||||
| Wildtype AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK* | ||||||||||||||||
| Mutated AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIKES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3750 / 3750 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1250 / 1250 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4025 / 4025 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 276 / 276 | ||||||||||||||||
| Last intron/exon boundary | 3180 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2854 | ||||||||||||||||
| Length of CDS | 3750 | ||||||||||||||||
| Coding sequence (CDS) position | 1133 | ||||||||||||||||
| cDNA position | 1408 | ||||||||||||||||
| gDNA position | 62300 | ||||||||||||||||
| Chromosomal position | 61801260 | ||||||||||||||||
| Speed | 0.06 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 | Chr17:61801260C>T (GRCh38) | |||||||||||||
| Gene symbol | BRIP1 | |||||||||||||
| Gene constraints | LOEUF: 0.90, LOF (oe): 0.74, misssense (oe): 0.81, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000682989.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1133G>A g.62300G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 8 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 17 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTGTGAGTATATGTG | |||||||||||||
| Altered gDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTGTGAGTATATGTG | |||||||||||||
| Original cDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTATGGATTTAAATC | |||||||||||||
| Altered cDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTATGGATTTAAATC | |||||||||||||
| Wildtype AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RSHSVAHVGV QWYNLSSLQP RLPGFKGFSH LSLPSNWDHR * | |||||||||||||
| Mutated AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIKES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RSHSVAHVGV QWYNLSSLQP RLPGFKGFSH LSLPSNWDHR * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2613 / 2613 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 871 / 871 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2856 / 2856 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 244 / 244 | |||||||||||||
| Last intron/exon boundary | 2852 | |||||||||||||
| Theoretical NMD boundary in CDS | 2558 | |||||||||||||
| Length of CDS | 2613 | |||||||||||||
| Coding sequence (CDS) position | 1133 | |||||||||||||
| cDNA position | 1376 | |||||||||||||
| gDNA position | 62300 | |||||||||||||
| Chromosomal position | 61801260 | |||||||||||||
| Speed | 0.06 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 | Chr17:61801260C>T (GRCh38) | |||||||||||||
| Gene symbol | BRIP1 | |||||||||||||
| Gene constraints | LOEUF: 0.91, LOF (oe): 0.75, misssense (oe): 0.81, synonymous (oe): 0.90 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000584322.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1133G>A g.62300G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 8 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 17 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTGTGAGTATATGTG | |||||||||||||
| Altered gDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTGTGAGTATATGTG | |||||||||||||
| Original cDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTATGGATTTAAATC | |||||||||||||
| Altered cDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTATGGATTTAAATC | |||||||||||||
| Wildtype AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQLTSATAE GTNGYAQSWV SYSKMADAAL TTATDETVDI YPRNLLSPST ALVLHSTEVE CY* | |||||||||||||
| Mutated AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIKES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQLTSATAE GTNGYAQSWV SYSKMADAAL TTATDETVDI YPRNLLSPST ALVLHSTEVE CY* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2559 / 2559 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 853 / 853 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2633 / 2633 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 75 / 75 | |||||||||||||
| Last intron/exon boundary | 2453 | |||||||||||||
| Theoretical NMD boundary in CDS | 2328 | |||||||||||||
| Length of CDS | 2559 | |||||||||||||
| Coding sequence (CDS) position | 1133 | |||||||||||||
| cDNA position | 1207 | |||||||||||||
| gDNA position | 62300 | |||||||||||||
| Chromosomal position | 61801260 | |||||||||||||
| Speed | 0.08 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 | Chr17:61801260C>T (GRCh38) | ||||||||||||||||
| Gene symbol | BRIP1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.89, LOF (oe): 0.74, misssense (oe): 0.81, synonymous (oe): 0.88 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000577598.5 | ||||||||||||||||
| Genbank transcript ID | |||||||||||||||||
| UniProt / AlphaMissense peptide | FANCJ_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1133G>A g.62300G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | 8 | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 17 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTGTGAGTATATGTG | ||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTGTGAGTATATGTG | ||||||||||||||||
| Original cDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTATGGATTTAAATC | ||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTATGGATTTAAATC | ||||||||||||||||
| Wildtype AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS SIISRKEKSM KSSSHLPLIE KSFIIFSEMI FIWV* | ||||||||||||||||
| Mutated AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIKES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS SIISRKEKSM KSSSHLPLIE KSFIIFSEMI FIWV* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2985 / 2985 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 995 / 995 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2985 / 2985 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||
| Last intron/exon boundary | 2575 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2524 | ||||||||||||||||
| Length of CDS | 2985 | ||||||||||||||||
| Coding sequence (CDS) position | 1133 | ||||||||||||||||
| cDNA position | 1133 | ||||||||||||||||
| gDNA position | 62300 | ||||||||||||||||
| Chromosomal position | 61801260 | ||||||||||||||||
| Speed | 0.06 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 | Chr17:61801260C>T (GRCh38) | |||||||||||||
| Gene symbol | BRIP1 | |||||||||||||
| Gene constraints | LOEUF: 0.91, LOF (oe): 0.75, misssense (oe): 0.81, synonymous (oe): 0.90 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000683381.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1133G>A g.62300G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 8 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 17 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTGTGAGTATATGTG | |||||||||||||
| Altered gDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTGTGAGTATATGTG | |||||||||||||
| Original cDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTATGGATTTAAATC | |||||||||||||
| Altered cDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTATGGATTTAAATC | |||||||||||||
| Wildtype AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQIMSSK FIIYVVACAR VSSLKVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQLTSATAE GTNGYAQSWV SYSKMADAAL TTATDETVDI YPRNLLSPST ALVLHSTEVE CY* | |||||||||||||
| Mutated AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIKES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQIMSSK FIIYVVACAR VSSLKVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQLTSATAE GTNGYAQSWV SYSKMADAAL TTATDETVDI YPRNLLSPST ALVLHSTEVE CY* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2619 / 2619 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 873 / 873 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2775 / 2775 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 157 / 157 | |||||||||||||
| Last intron/exon boundary | 2595 | |||||||||||||
| Theoretical NMD boundary in CDS | 2388 | |||||||||||||
| Length of CDS | 2619 | |||||||||||||
| Coding sequence (CDS) position | 1133 | |||||||||||||
| cDNA position | 1289 | |||||||||||||
| gDNA position | 62300 | |||||||||||||
| Chromosomal position | 61801260 | |||||||||||||
| Speed | 0.05 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 | Chr17:61801260C>T (GRCh38) | ||||||||||||||||
| Gene symbol | BRIP1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.85, LOF (oe): 0.70, misssense (oe): 0.82, synonymous (oe): 0.85 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000683039.1 | ||||||||||||||||
| Genbank transcript ID | |||||||||||||||||
| UniProt / AlphaMissense peptide | FANCJ_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1133G>A g.62300G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | 8 | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 17 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTGTGAGTATATGTG | ||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTGTGAGTATATGTG | ||||||||||||||||
| Original cDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTATGGATTTAAATC | ||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTATGGATTTAAATC | ||||||||||||||||
| Wildtype AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK* | ||||||||||||||||
| Mutated AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIKES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3750 / 3750 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1250 / 1250 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4072 / 4072 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 323 / 323 | ||||||||||||||||
| Last intron/exon boundary | 3227 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2854 | ||||||||||||||||
| Length of CDS | 3750 | ||||||||||||||||
| Coding sequence (CDS) position | 1133 | ||||||||||||||||
| cDNA position | 1455 | ||||||||||||||||
| gDNA position | 62300 | ||||||||||||||||
| Chromosomal position | 61801260 | ||||||||||||||||
| Speed | 0.05 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 | Chr17:61801260C>T (GRCh38) | ||||||||||||||||
| Gene symbol | BRIP1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.85, LOF (oe): 0.70, misssense (oe): 0.82, synonymous (oe): 0.85 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000682453.1 | ||||||||||||||||
| Genbank transcript ID | |||||||||||||||||
| UniProt / AlphaMissense peptide | FANCJ_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1133G>A g.62300G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | 8 | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 17 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTGTGAGTATATGTG | ||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTGTGAGTATATGTG | ||||||||||||||||
| Original cDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTATGGATTTAAATC | ||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTATGGATTTAAATC | ||||||||||||||||
| Wildtype AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK* | ||||||||||||||||
| Mutated AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ DADIIFCPYN YLLDAQIKES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3750 / 3750 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1250 / 1250 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3863 / 3863 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 114 / 114 | ||||||||||||||||
| Last intron/exon boundary | 3018 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2854 | ||||||||||||||||
| Length of CDS | 3750 | ||||||||||||||||
| Coding sequence (CDS) position | 1133 | ||||||||||||||||
| cDNA position | 1246 | ||||||||||||||||
| gDNA position | 62300 | ||||||||||||||||
| Chromosomal position | 61801260 | ||||||||||||||||
| Speed | 0.09 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 | Chr17:61801260C>T (GRCh38) | |||||||||||||
| Gene symbol | BRIP1 | |||||||||||||
| Gene constraints | LOEUF: 0.81, LOF (oe): 0.66, misssense (oe): 0.82, synonymous (oe): 0.84 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000682755.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.919-1961G>A g.62300G>A | |||||||||||||
| 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? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 17 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TCTTCTAGATGCACAAATAAGGGAAAGTGTGAGTATATGTG | |||||||||||||
| Altered gDNA sequence snippet | TCTTCTAGATGCACAAATAAAGGAAAGTGTGAGTATATGTG | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME LLDGKNMDLN LKEQVVILDE AHNIEDCARE SASYSVTEVQ LRFARDELDS MVNNNIRKKD HEPLRAVCCS LINWLEANAE YLVERDYESA CKIWSGNEML LTLHKMGITT ATFPILQGHF SAVLQKEEKI SPIYGKEEAR EVPVISASTQ IMLKGLFMVL DYLFRQNSRF ADDYKIAIQQ TYSWTNQIDI SDKNGLLVLP KNKKRSRQKT AVHVLNFWCL NPAVAFSDIN GKVQTIVLTS GTLSPMKSFS SELGVTFTIQ LEANHIIKNS QVWVGTIGSG PKGRNLCATF QNTETFEFQD EVGALLLSVC QTVSQGILCF LPSYKLLEKL KERWLSTGLW HNLELVKTVI VEPQGGEKTN FDELLQVYYD AIKYKGEKDG ALLVAVCRGK VSEGLDFSDD NARAVITIGI PFPNVKDLQV ELKRQYNDHH SKLRGLLPGR QWYEIQAYRA LNQALGRCIR HRNDWGALIL VDDRFRNNPS RYISGLSKWV RQQIQHHSTF ESALESLAEF SKKHQKVLNV SIKDRTNIQD NESTLEVTSL KYSTSPYLLE AASHLSPENF VEDEAKICVQ ELQCPKIITK NSPLPSSIIS RKEKNDPVFL EEAGKAEKIV ISRSTSPTFN KQTKRVSWSS FNSLGQYFTG KIPKATPELG SSENSASSPP RFKTEKMESK TVLPFTDKCE SSNLTVNTSF GSCPQSETII SSLKIDATLT RKNHSEHPLC SEEALDPDIE LSLVSEEDKQ STSNRDFETE AEDESIYFTP ELYDPEDTDE EKNDLAETDR GNRLANNSDC ILAKDLFEIR TIKEVDSARE VKAEDCIDTK LNGILHIEES KIDDIDGNVK TTWINELELG KTHEIEIKNF KPSPSKNKGM FPGFK* | |||||||||||||
| 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 | 31 / 31 | |||||||||||||
| Last intron/exon boundary | 2713 | |||||||||||||
| Theoretical NMD boundary in CDS | 2632 | |||||||||||||
| Length of CDS | 3528 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 62300 | |||||||||||||
| Chromosomal position | 61801260 | |||||||||||||
| 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