| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000652225(MANE Select) | ERCC5 | Benign | 0|200 | without_ | No | Single base exchange | Normal |
| |||||
| ERCC5 | Benign | 0|200 | without_ | No | Single base exchange | Normal |
| ||||||
| BIVM-ERCC5 | Benign | 0|200 | without_ | No | Single base exchange | Normal |
| ||||||
| BIVM-ERCC5 | Benign | 2|198 | without_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr13:102862589C>T (GRCh38) | |||||||||||||
| Gene symbol | ERCC5 | |||||||||||||
| Gene constraints | LOEUF: 0.77, LOF (oe): 0.63, misssense (oe): 0.92, synonymous (oe): 0.98 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000652225.2 | |||||||||||||
| Genbank transcript ID | NM_000123 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1440C>T g.16759C>T | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 13 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | GAACAAATGTCACTTGTTCACGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Altered gDNA sequence snippet | GAACAAATGTCACTTGTTCATGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Original cDNA sequence snippet | GAACAAATGTCACTTGTTCACGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Altered cDNA sequence snippet | GAACAAATGTCACTTGTTCATGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Wildtype AA sequence | MGVQGLWKLL ECSGRQVSPE ALEGKILAVD ISIWLNQALK GVRDRHGNSI ENPHLLTLFH RLCKLLFFRI RPIFVFDGDA PLLKKQTLVK RRQRKDLASS DSRKTTEKLL KTFLKRQAIK TAFRSKRDEA LPSLTQVRRE NDLYVLPPLQ EEEKHSSEEE DEKEWQERMN QKQALQEEFF HNPQAIDIES EDFSSLPPEV KHEILTDMKE FTKRRRTLFE AMPEESDDFS QYQLKGLLKK NYLNQHIEHV QKEMNQQHSG HIRRQYEDEG GFLKEVESRR VVSEDTSHYI LIKGIQAKTV AEVDSESLPS SSKMHGMSFD VKSSPCEKLK TEKEPDATPP SPRTLLAMQA ALLGSSSEEE LESENRRQAR GRNAPAAVDE GSISPRTLSA IKRALDDDED VKVCAGDDVQ TGGPGAEEMR INSSTENSDE GLKVRDGKGI PFTATLASSS VNSAEEHVAS TNEGREPTDS VPKEQMSLVH VGTEAFPISD ESMIKDRKDR LPLESAVVRH SDAPGLPNGR ELTPASPTCT NSVSKNETHA EVLEQQNELC PYESKFDSSL LSSDDETKCK PNSASEVIGP VSLQETSSIV SVPSEAVDNV ENVVSFNAKE HENFLETIQE QQTTESAGQD LISIPKAVEP MEIDSEESES DGSFIEVQSV ISDEELQAEF PETSKPPSEQ GEEELVGTRE GEAPAESESL LRDNSERDDV DGEPQEAEKD AEDSLHEWQD INLEELETLE SNLLAQQNSL KAQKQQQERI AATVTGQMFL ESQELLRLFG IPYIQAPMEA EAQCAILDLT DQTSGTITDD SDIWLFGARH VYRNFFNKNK FVEYYQYVDF HNQLGLDRNK LINLAYLLGS DYTEGIPTVG CVTAMEILNE FPGHGLEPLL KFSEWWHEAQ KNPKIRPNPH DTKVKKKLRT LQLTPGFPNP AVAEAYLKPV VDDSKGSFLW GKPDLDKIRE FCQRYFGWNR TKTDESLFPV LKQLDAQQTQ LRIDSFFRLA QQEKEDAKRI KSQRLNRAVT CMLRKEKEAA ASEIEAVSVA MEKEFELLDK AKGKTQKRGI TNTLEESSSL KRKRLSDSKG KNTCGGFLGE TCLSESSDGS SSEDAESSSL MNVQRRTAAK EPKTSASDSQ NSVKEAPVKN GGATTSSSSD SDDDGGKEKM VLVTARSVFG KKRRKLRRAR GRKRKT* | |||||||||||||
| Mutated AA sequence | MGVQGLWKLL ECSGRQVSPE ALEGKILAVD ISIWLNQALK GVRDRHGNSI ENPHLLTLFH RLCKLLFFRI RPIFVFDGDA PLLKKQTLVK RRQRKDLASS DSRKTTEKLL KTFLKRQAIK TAFRSKRDEA LPSLTQVRRE NDLYVLPPLQ EEEKHSSEEE DEKEWQERMN QKQALQEEFF HNPQAIDIES EDFSSLPPEV KHEILTDMKE FTKRRRTLFE AMPEESDDFS QYQLKGLLKK NYLNQHIEHV QKEMNQQHSG HIRRQYEDEG GFLKEVESRR VVSEDTSHYI LIKGIQAKTV AEVDSESLPS SSKMHGMSFD VKSSPCEKLK TEKEPDATPP SPRTLLAMQA ALLGSSSEEE LESENRRQAR GRNAPAAVDE GSISPRTLSA IKRALDDDED VKVCAGDDVQ TGGPGAEEMR INSSTENSDE GLKVRDGKGI PFTATLASSS VNSAEEHVAS TNEGREPTDS VPKEQMSLVH VGTEAFPISD ESMIKDRKDR LPLESAVVRH SDAPGLPNGR ELTPASPTCT NSVSKNETHA EVLEQQNELC PYESKFDSSL LSSDDETKCK PNSASEVIGP VSLQETSSIV SVPSEAVDNV ENVVSFNAKE HENFLETIQE QQTTESAGQD LISIPKAVEP MEIDSEESES DGSFIEVQSV ISDEELQAEF PETSKPPSEQ GEEELVGTRE GEAPAESESL LRDNSERDDV DGEPQEAEKD AEDSLHEWQD INLEELETLE SNLLAQQNSL KAQKQQQERI AATVTGQMFL ESQELLRLFG IPYIQAPMEA EAQCAILDLT DQTSGTITDD SDIWLFGARH VYRNFFNKNK FVEYYQYVDF HNQLGLDRNK LINLAYLLGS DYTEGIPTVG CVTAMEILNE FPGHGLEPLL KFSEWWHEAQ KNPKIRPNPH DTKVKKKLRT LQLTPGFPNP AVAEAYLKPV VDDSKGSFLW GKPDLDKIRE FCQRYFGWNR TKTDESLFPV LKQLDAQQTQ LRIDSFFRLA QQEKEDAKRI KSQRLNRAVT CMLRKEKEAA ASEIEAVSVA MEKEFELLDK AKGKTQKRGI TNTLEESSSL KRKRLSDSKG KNTCGGFLGE TCLSESSDGS SSEDAESSSL MNVQRRTAAK EPKTSASDSQ NSVKEAPVKN GGATTSSSSD SDDDGGKEKM VLVTARSVFG KKRRKLRRAR GRKRKT* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3561 / 3561 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1187 / 1187 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3796 / 3796 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 236 / 236 | |||||||||||||
| Last intron/exon boundary | 3199 | |||||||||||||
| Theoretical NMD boundary in CDS | 2913 | |||||||||||||
| Length of CDS | 3561 | |||||||||||||
| Coding sequence (CDS) position | 1440 | |||||||||||||
| cDNA position | 1675 | |||||||||||||
| gDNA position | 16759 | |||||||||||||
| Chromosomal position | 102862589 | |||||||||||||
| 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 | Chr13:102862589C>T (GRCh38) | |||||||||||||
| Gene symbol | ERCC5 | |||||||||||||
| Gene constraints | LOEUF: 0.79, LOF (oe): 0.63, misssense (oe): 0.92, synonymous (oe): 0.98 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000652613.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.936C>T g.16759C>T | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 13 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | GAACAAATGTCACTTGTTCACGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Altered gDNA sequence snippet | GAACAAATGTCACTTGTTCATGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Original cDNA sequence snippet | GAACAAATGTCACTTGTTCACGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Altered cDNA sequence snippet | GAACAAATGTCACTTGTTCATGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Wildtype AA sequence | MNQKQALQEE FFHNPQAIDI ESEDFSSLPP EVKHEILTDM KEFTKRRRTL FEAMPEESDD FSQYQLKGLL KKNYLNQHIE HVQKEMNQQH SGHIRRQYED EGGFLKEVES RRVVSEDTSH YILIKGIQAK TVAEVDSESL PSSSKMHGMS FDVKSSPCEK LKTEKEPDAT PPSPRTLLAM QAALLGSSSE EELESENRRQ ARGRNAPAAV DEGSISPRTL SAIKRALDDD EDVKVCAGDD VQTGGPGAEE MRINSSTENS DEGLKVRDGK GIPFTATLAS SSVNSAEEHV ASTNEGREPT DSVPKEQMSL VHVGTEAFPI SDESMIKDRK DRLPLESAVV RHSDAPGLPN GRELTPASPT CTNSVSKNET HAEVLEQQNE LCPYESKFDS SLLSSDDETK CKPNSASEVI GPVSLQETSS IVSVPSEAVD NVENVVSFNA KEHENFLETI QEQQTTESAG QDLISIPKAV EPMEIDSEES ESDGSFIEVQ SVISDEELQA EFPETSKPPS EQGEEELVGT REGEAPAESE SLLRDNSERD DVDGEPQEAE KDAEDSLHEW QDINLEELET LESNLLAQQN SLKAQKQQQE RIAATVTGQM FLESQELLRL FGIPYIQAPM EAEAQCAILD LTDQTSGTIT DDSDIWLFGA RHVYRNFFNK NKFVEYYQYV DFHNQLGLDR NKLINLAYLL GSDYTEGIPT VGCVTAMEIL NEFPGHGLEP LLKFSEWWHE AQKNPKIRPN PHDTKVKKKL RTLQLTPGFP NPAVAEAYLK PVVDDSKGSF LWGKPDLDKI REFCQRYFGW NRTKTDESLF PVLKQLDAQQ TQLRIDSFFR LAQQEKEDAK RIKSQRLNRA VTCMLRKEKE AAASEIEAVS VAMEKEFELL DKAKGKTQKR GITNTLEESS SLKRKRLSDS KGKNTCGGFL GETCLSESSD GSSSEDAESS SLMNVQRRTA AKEPKTSASD SQNSVKEAPV KNGGATTSSS SDSDDDGGKE KMVLVTARSV FGKKRRKLRR ARGRKRKT* | |||||||||||||
| Mutated AA sequence | MNQKQALQEE FFHNPQAIDI ESEDFSSLPP EVKHEILTDM KEFTKRRRTL FEAMPEESDD FSQYQLKGLL KKNYLNQHIE HVQKEMNQQH SGHIRRQYED EGGFLKEVES RRVVSEDTSH YILIKGIQAK TVAEVDSESL PSSSKMHGMS FDVKSSPCEK LKTEKEPDAT PPSPRTLLAM QAALLGSSSE EELESENRRQ ARGRNAPAAV DEGSISPRTL SAIKRALDDD EDVKVCAGDD VQTGGPGAEE MRINSSTENS DEGLKVRDGK GIPFTATLAS SSVNSAEEHV ASTNEGREPT DSVPKEQMSL VHVGTEAFPI SDESMIKDRK DRLPLESAVV RHSDAPGLPN GRELTPASPT CTNSVSKNET HAEVLEQQNE LCPYESKFDS SLLSSDDETK CKPNSASEVI GPVSLQETSS IVSVPSEAVD NVENVVSFNA KEHENFLETI QEQQTTESAG QDLISIPKAV EPMEIDSEES ESDGSFIEVQ SVISDEELQA EFPETSKPPS EQGEEELVGT REGEAPAESE SLLRDNSERD DVDGEPQEAE KDAEDSLHEW QDINLEELET LESNLLAQQN SLKAQKQQQE RIAATVTGQM FLESQELLRL FGIPYIQAPM EAEAQCAILD LTDQTSGTIT DDSDIWLFGA RHVYRNFFNK NKFVEYYQYV DFHNQLGLDR NKLINLAYLL GSDYTEGIPT VGCVTAMEIL NEFPGHGLEP LLKFSEWWHE AQKNPKIRPN PHDTKVKKKL RTLQLTPGFP NPAVAEAYLK PVVDDSKGSF LWGKPDLDKI REFCQRYFGW NRTKTDESLF PVLKQLDAQQ TQLRIDSFFR LAQQEKEDAK RIKSQRLNRA VTCMLRKEKE AAASEIEAVS VAMEKEFELL DKAKGKTQKR GITNTLEESS SLKRKRLSDS KGKNTCGGFL GETCLSESSD GSSSEDAESS SLMNVQRRTA AKEPKTSASD SQNSVKEAPV KNGGATTSSS SDSDDDGGKE KMVLVTARSV FGKKRRKLRR ARGRKRKT* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3057 / 3057 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1019 / 1019 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3954 / 3954 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 898 / 898 | |||||||||||||
| Last intron/exon boundary | 3357 | |||||||||||||
| Theoretical NMD boundary in CDS | 2409 | |||||||||||||
| Length of CDS | 3057 | |||||||||||||
| Coding sequence (CDS) position | 936 | |||||||||||||
| cDNA position | 1833 | |||||||||||||
| gDNA position | 16759 | |||||||||||||
| Chromosomal position | 102862589 | |||||||||||||
| 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 | Chr13:102862589C>T (GRCh38) | |||||||||||||
| Gene symbol | BIVM-ERCC5 | |||||||||||||
| Gene constraints | LOEUF: 0.70, LOF (oe): 0.58, misssense (oe): 0.90, synonymous (oe): 0.95 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000639132.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2115C>T g.63480C>T | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 13 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | GAACAAATGTCACTTGTTCACGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Altered gDNA sequence snippet | GAACAAATGTCACTTGTTCATGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Original cDNA sequence snippet | GAACAAATGTCACTTGTTCACGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Altered cDNA sequence snippet | GAACAAATGTCACTTGTTCATGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Wildtype AA sequence | MGAGNLPPIT QEEALHILGF QPPFEDIRFG PFTGNTTLMR WFRQINDHFH VKGCSYVLYK PHGKNKTAGE TASGALSKLT RGLKDESLAY IYHCQNHYFC PIGFEATPVK ANKAFSRGPL SPQEVEYWIL IGESSRKHPA IHCKKWADIV TDLNTQNPEY LDIRHLERGL QYRKTKKVGG NLHCIIAFQR LNWQRFGLWN FPFGTIRQES QPPTHAQGIA KSESEDNISK KQHGRLGRSF SASFHQDSAW KKMSNISIWL NQALKGVRDR HGNSIENPHL LTLFHRLCKL LFFRIRPIFV FDGDAPLLKK QTLVKRRQRK DLASSDSRKT TEKLLKTFLK RQAIKTAFRS KRDEALPSLT QVRRENDLYV LPPLQEEEKH SSEEEDEKEW QERMNQKQAL QEEFFHNPQA IDIESEDFSS LPPEVKHEIL TDMKEFTKRR RTLFEAMPEE SDDFSQYQLK GLLKKNYLNQ HIEHVQKEMN QQHSGHIRRQ YEDEGGFLKE VESRRVVSED TSHYILIKGI QAKTVAEVDS ESLPSSSKMH GMSFDVKSSP CEKLKTEKEP DATPPSPRTL LAMQAALLGS SSEEELESEN RRQARGRNAP AAVDEGSISP RTLSAIKRAL DDDEDVKVCA GDDVQTGGPG AEEMRINSST ENSDEGLKVR DGKGIPFTAT LASSSVNSAE EHVASTNEGR EPTDSVPKEQ MSLVHVGTEA FPISDESMIK DRKDRLPLES AVVRHSDAPG LPNGRELTPA SPTCTNSVSK NETHAEVLEQ QNELCPYESK FDSSLLSSDD ETKCKPNSAS EVIGPVSLQE TSSIVSVPSE AVDNVENVVS FNAKEHENFL ETIQEQQTTE SAGQDLISIP KAVEPMEIDS EESESDGSFI EVQSVISDEE LQAEFPETSK PPSEQGEEEL VGTREGEAPA ESESLLRDNS ERDDVDGEPQ EAEKDAEDSL HEWQDINLEE LETLESNLLA QQNSLKAQKQ QQERIAATVT GQMFLESQEL LRLFGIPYIQ APMEAEAQCA ILDLTDQTSG TITDDSDIWL FGARHVYRNF FNKNKFVEYY QYVDFHNQLG LDRNKLINLA YLLGSDYTEG IPTVGCVTAM EILNEFPGHG LEPLLKFSEW WHEAQKNPKI RPNPHDTKVK KKLRTLQLTP GFPNPAVAEA YLKPVVDDSK GSFLWGKPDL DKIREFCQRY FGWNRTKTDE SLFPVLKQLD AQQTQLRIDS FFRLAQQEKE DAKRIKSQRL NRAVTCMLRK EKEAAASEIE AVSVAMEKEF ELLDKAKGKT QKRGITNTLE ESSSLKRKRL SDSKGKNTCG GFLGETCLSE SSDGSSSEDA ESSSLMNVQR RTAAKEPKTS ASDSQNSVKE APVKNGGATT SSSSDSDDDG GKEKMVLVTA RSVFGKKRRK LRRARGRKRK T* | |||||||||||||
| Mutated AA sequence | MGAGNLPPIT QEEALHILGF QPPFEDIRFG PFTGNTTLMR WFRQINDHFH VKGCSYVLYK PHGKNKTAGE TASGALSKLT RGLKDESLAY IYHCQNHYFC PIGFEATPVK ANKAFSRGPL SPQEVEYWIL IGESSRKHPA IHCKKWADIV TDLNTQNPEY LDIRHLERGL QYRKTKKVGG NLHCIIAFQR LNWQRFGLWN FPFGTIRQES QPPTHAQGIA KSESEDNISK KQHGRLGRSF SASFHQDSAW KKMSNISIWL NQALKGVRDR HGNSIENPHL LTLFHRLCKL LFFRIRPIFV FDGDAPLLKK QTLVKRRQRK DLASSDSRKT TEKLLKTFLK RQAIKTAFRS KRDEALPSLT QVRRENDLYV LPPLQEEEKH SSEEEDEKEW QERMNQKQAL QEEFFHNPQA IDIESEDFSS LPPEVKHEIL TDMKEFTKRR RTLFEAMPEE SDDFSQYQLK GLLKKNYLNQ HIEHVQKEMN QQHSGHIRRQ YEDEGGFLKE VESRRVVSED TSHYILIKGI QAKTVAEVDS ESLPSSSKMH GMSFDVKSSP CEKLKTEKEP DATPPSPRTL LAMQAALLGS SSEEELESEN RRQARGRNAP AAVDEGSISP RTLSAIKRAL DDDEDVKVCA GDDVQTGGPG AEEMRINSST ENSDEGLKVR DGKGIPFTAT LASSSVNSAE EHVASTNEGR EPTDSVPKEQ MSLVHVGTEA FPISDESMIK DRKDRLPLES AVVRHSDAPG LPNGRELTPA SPTCTNSVSK NETHAEVLEQ QNELCPYESK FDSSLLSSDD ETKCKPNSAS EVIGPVSLQE TSSIVSVPSE AVDNVENVVS FNAKEHENFL ETIQEQQTTE SAGQDLISIP KAVEPMEIDS EESESDGSFI EVQSVISDEE LQAEFPETSK PPSEQGEEEL VGTREGEAPA ESESLLRDNS ERDDVDGEPQ EAEKDAEDSL HEWQDINLEE LETLESNLLA QQNSLKAQKQ QQERIAATVT GQMFLESQEL LRLFGIPYIQ APMEAEAQCA ILDLTDQTSG TITDDSDIWL FGARHVYRNF FNKNKFVEYY QYVDFHNQLG LDRNKLINLA YLLGSDYTEG IPTVGCVTAM EILNEFPGHG LEPLLKFSEW WHEAQKNPKI RPNPHDTKVK KKLRTLQLTP GFPNPAVAEA YLKPVVDDSK GSFLWGKPDL DKIREFCQRY FGWNRTKTDE SLFPVLKQLD AQQTQLRIDS FFRLAQQEKE DAKRIKSQRL NRAVTCMLRK EKEAAASEIE AVSVAMEKEF ELLDKAKGKT QKRGITNTLE ESSSLKRKRL SDSKGKNTCG GFLGETCLSE SSDGSSSEDA ESSSLMNVQR RTAAKEPKTS ASDSQNSVKE APVKNGGATT SSSSDSDDDG GKEKMVLVTA RSVFGKKRRK LRRARGRKRK T* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 4236 / 4236 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1412 / 1412 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 5107 / 5107 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 872 / 872 | |||||||||||||
| Last intron/exon boundary | 4510 | |||||||||||||
| Theoretical NMD boundary in CDS | 3588 | |||||||||||||
| Length of CDS | 4236 | |||||||||||||
| Coding sequence (CDS) position | 2115 | |||||||||||||
| cDNA position | 2986 | |||||||||||||
| gDNA position | 63480 | |||||||||||||
| Chromosomal position | 102862589 | |||||||||||||
| 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 | Chr13:102862589C>T (GRCh38) | |||||||||||||
| Gene symbol | BIVM-ERCC5 | |||||||||||||
| Gene constraints | LOEUF: 0.66, LOF (oe): 0.56, misssense (oe): 0.90, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000639435.1 | |||||||||||||
| Genbank transcript ID | NM_001204425 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2802C>T g.63480C>T | |||||||||||||
| 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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 13 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | GAACAAATGTCACTTGTTCACGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Altered gDNA sequence snippet | GAACAAATGTCACTTGTTCATGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Original cDNA sequence snippet | GAACAAATGTCACTTGTTCACGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Altered cDNA sequence snippet | GAACAAATGTCACTTGTTCATGTGGGGACTGAAGCCTTTCC | |||||||||||||
| Wildtype AA sequence | MPNVAETERS NDSGNGEHKS ERKSPEENLQ GAVKSFCTSA SGAPLGPKGD GHYPWSCPVT HTREKIYAIC SDYAFLNQAT SIYKTPNPSR SPCLPDSTSL SAGNNSSRYI GIPTSTSEII YNEENSLENL SNSLGKLPLA WEIDKSEFDG VTTNSKHKSG NAKKQVSKRK TSDKKGRYQK ECPQHSPLED IKQRKVLDLR RWYCISRPQY KTSCGISSLI SCWNFLYSTM GAGNLPPITQ EEALHILGFQ PPFEDIRFGP FTGNTTLMRW FRQINDHFHV KGCSYVLYKP HGKNKTAGET ASGALSKLTR GLKDESLAYI YHCQNHYFCP IGFEATPVKA NKAFSRGPLS PQEVEYWILI GESSRKHPAI HCKKWADIVT DLNTQNPEYL DIRHLERGLQ YRKTKKVGGN LHCIIAFQRL NWQRFGLWNF PFGTIRQESQ PPTHAQGIAK SESEDNISKK QHGRLGRSFS ASFHQDSAWK KMSNISIWLN QALKGVRDRH GNSIENPHLL TLFHRLCKLL FFRIRPIFVF DGDAPLLKKQ TLVKRRQRKD LASSDSRKTT EKLLKTFLKR QAIKTAFRSK RDEALPSLTQ VRRENDLYVL PPLQEEEKHS SEEEDEKEWQ ERMNQKQALQ EEFFHNPQAI DIESEDFSSL PPEVKHEILT DMKEFTKRRR TLFEAMPEES DDFSQYQLKG LLKKNYLNQH IEHVQKEMNQ QHSGHIRRQY EDEGGFLKEV ESRRVVSEDT SHYILIKGIQ AKTVAEVDSE SLPSSSKMHG MSFDVKSSPC EKLKTEKEPD ATPPSPRTLL AMQAALLGSS SEEELESENR RQARGRNAPA AVDEGSISPR TLSAIKRALD DDEDVKVCAG DDVQTGGPGA EEMRINSSTE NSDEGLKVRD GKGIPFTATL ASSSVNSAEE HVASTNEGRE PTDSVPKEQM SLVHVGTEAF PISDESMIKD RKDRLPLESA VVRHSDAPGL PNGRELTPAS PTCTNSVSKN ETHAEVLEQQ NELCPYESKF DSSLLSSDDE TKCKPNSASE VIGPVSLQET SSIVSVPSEA VDNVENVVSF NAKEHENFLE TIQEQQTTES AGQDLISIPK AVEPMEIDSE ESESDGSFIE VQSVISDEEL QAEFPETSKP PSEQGEEELV GTREGEAPAE SESLLRDNSE RDDVDGEPQE AEKDAEDSLH EWQDINLEEL ETLESNLLAQ QNSLKAQKQQ QERIAATVTG QMFLESQELL RLFGIPYIQA PMEAEAQCAI LDLTDQTSGT ITDDSDIWLF GARHVYRNFF NKNKFVEYYQ YVDFHNQLGL DRNKLINLAY LLGSDYTEGI PTVGCVTAME ILNEFPGHGL EPLLKFSEWW HEAQKNPKIR PNPHDTKVKK KLRTLQLTPG FPNPAVAEAY LKPVVDDSKG SFLWGKPDLD KIREFCQRYF GWNRTKTDES LFPVLKQLDA QQTQLRIDSF FRLAQQEKED AKRIKSQRLN RAVTCMLRKE KEAAASEIEA VSVAMEKEFE LLDKAKGKTQ KRGITNTLEE SSSLKRKRLS DSKGKNTCGG FLGETCLSES SDGSSSEDAE SSSLMNVQRR TAAKEPKTSA SDSQNSVKEA PVKNGGATTS SSSDSDDDGG KEKMVLVTAR SVFGKKRRKL RRARGRKRKT * | |||||||||||||
| Mutated AA sequence | MPNVAETERS NDSGNGEHKS ERKSPEENLQ GAVKSFCTSA SGAPLGPKGD GHYPWSCPVT HTREKIYAIC SDYAFLNQAT SIYKTPNPSR SPCLPDSTSL SAGNNSSRYI GIPTSTSEII YNEENSLENL SNSLGKLPLA WEIDKSEFDG VTTNSKHKSG NAKKQVSKRK TSDKKGRYQK ECPQHSPLED IKQRKVLDLR RWYCISRPQY KTSCGISSLI SCWNFLYSTM GAGNLPPITQ EEALHILGFQ PPFEDIRFGP FTGNTTLMRW FRQINDHFHV KGCSYVLYKP HGKNKTAGET ASGALSKLTR GLKDESLAYI YHCQNHYFCP IGFEATPVKA NKAFSRGPLS PQEVEYWILI GESSRKHPAI HCKKWADIVT DLNTQNPEYL DIRHLERGLQ YRKTKKVGGN LHCIIAFQRL NWQRFGLWNF PFGTIRQESQ PPTHAQGIAK SESEDNISKK QHGRLGRSFS ASFHQDSAWK KMSNISIWLN QALKGVRDRH GNSIENPHLL TLFHRLCKLL FFRIRPIFVF DGDAPLLKKQ TLVKRRQRKD LASSDSRKTT EKLLKTFLKR QAIKTAFRSK RDEALPSLTQ VRRENDLYVL PPLQEEEKHS SEEEDEKEWQ ERMNQKQALQ EEFFHNPQAI DIESEDFSSL PPEVKHEILT DMKEFTKRRR TLFEAMPEES DDFSQYQLKG LLKKNYLNQH IEHVQKEMNQ QHSGHIRRQY EDEGGFLKEV ESRRVVSEDT SHYILIKGIQ AKTVAEVDSE SLPSSSKMHG MSFDVKSSPC EKLKTEKEPD ATPPSPRTLL AMQAALLGSS SEEELESENR RQARGRNAPA AVDEGSISPR TLSAIKRALD DDEDVKVCAG DDVQTGGPGA EEMRINSSTE NSDEGLKVRD GKGIPFTATL ASSSVNSAEE HVASTNEGRE PTDSVPKEQM SLVHVGTEAF PISDESMIKD RKDRLPLESA VVRHSDAPGL PNGRELTPAS PTCTNSVSKN ETHAEVLEQQ NELCPYESKF DSSLLSSDDE TKCKPNSASE VIGPVSLQET SSIVSVPSEA VDNVENVVSF NAKEHENFLE TIQEQQTTES AGQDLISIPK AVEPMEIDSE ESESDGSFIE VQSVISDEEL QAEFPETSKP PSEQGEEELV GTREGEAPAE SESLLRDNSE RDDVDGEPQE AEKDAEDSLH EWQDINLEEL ETLESNLLAQ QNSLKAQKQQ QERIAATVTG QMFLESQELL RLFGIPYIQA PMEAEAQCAI LDLTDQTSGT ITDDSDIWLF GARHVYRNFF NKNKFVEYYQ YVDFHNQLGL DRNKLINLAY LLGSDYTEGI PTVGCVTAME ILNEFPGHGL EPLLKFSEWW HEAQKNPKIR PNPHDTKVKK KLRTLQLTPG FPNPAVAEAY LKPVVDDSKG SFLWGKPDLD KIREFCQRYF GWNRTKTDES LFPVLKQLDA QQTQLRIDSF FRLAQQEKED AKRIKSQRLN RAVTCMLRKE KEAAASEIEA VSVAMEKEFE LLDKAKGKTQ KRGITNTLEE SSSLKRKRLS DSKGKNTCGG FLGETCLSES SDGSSSEDAE SSSLMNVQRR TAAKEPKTSA SDSQNSVKEA PVKNGGATTS SSSDSDDDGG KEKMVLVTAR SVFGKKRRKL RRARGRKRKT * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 4923 / 4923 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1641 / 1641 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 5541 / 5541 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 619 / 619 | |||||||||||||
| Last intron/exon boundary | 4944 | |||||||||||||
| Theoretical NMD boundary in CDS | 4275 | |||||||||||||
| Length of CDS | 4923 | |||||||||||||
| Coding sequence (CDS) position | 2802 | |||||||||||||
| cDNA position | 3420 | |||||||||||||
| gDNA position | 63480 | |||||||||||||
| Chromosomal position | 102862589 | |||||||||||||
| 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