Evidence Details for ERCC4
Basic Information Top
| Gene Symbol: | ERCC4 ( ERCC11,RAD1,XPF ) |
|---|---|
| Gene Full Name: | excision repair cross-complementing rodent repair deficiency, complementation group 4 |
| Band: | 16p13.12 |
| Quick Links | Entrez ID:2072; OMIM: 133520; Uniprot ID:XPF_HUMAN; ENSEMBL ID: ENSG00000175595; HGNC ID: 3436 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ERCC4|2072|nucleotide
ATGGAGTCAGGGCAGCCGGCTCGACGGATTGCCATGGCGCCGCTGCTGGAGTACGAGCGACAGCTGGTGCTGGAACTGCTCGACACTGACGGGCTAGTAGTGTGC
GCCCGCGGGCTCGGCGCGGACCGGCTCCTCTACCACTTTCTCCAGCTGCACTGCCACCCAGCCTGCCTGGTGCTGGTGCTCAACACGCAGCCGGCCGAGGAGGAG
TATTTTATCAATCAGCTGAAGATAGAAGGAGTTGAACACCTCCCTCGCCGTGTAACAAATGAAATCACAAGCAACAGTCGCTATGAAGTTTACACACAAGGTGGT
GTTATATTTGCGACAAGTAGGATACTTGTGGTTGACTTCTTGACTGATAGAATACCTTCAGATTTAATTACTGGCATCTTGGTGTATAGAGCCCACAGAATAATC
GAGTCTTGTCAAGAAGCATTCATCTTGCGCCTCTTTCGCCAGAAAAACAAACGTGGTTTTATTAAAGCTTTCACAGACAATGCTGTTGCCTTTGATACTGGTTTT
TGTCATGTGGAAAGAGTGATGAGAAATCTTTTTGTGAGGAAACTGTATCTGTGGCCAAGGTTCCATGTAGCAGTAAACTCATTTTTAGAACAGCACAAACCTGAA
GTTGTAGAAATCCATGTTTCTATGACACCTACCATGCTTGCTATACAGACTGCTATACTGGACATTTTAAATGCATGTCTAAAGGAACTAAAATGCCATAACCCA
TCGCTTGAAGTGGAAGATTTATCTTTAGAAAATGCTATTGGAAAACCTTTTGACAAGACAATCCGCCATTATCTGGATCCTTTGTGGCACCAGCTTGGAGCCAAG
ACTAAATCCTTAGTTCAGGATTTGAAGATATTACGAACTTTGCTGCAGTATCTCTCTCAGTATGATTGTGTCACATTTCTTAATCTTCTGGAATCTCTGAGAGCA
ACGGAAAAAGCTTTTGGTCAGAATTCAGGTTGGCTGTTTCTTGACTCCAGCACCTCGATGTTTATAAATGCTCGAGCAAGGGTTTATCATCTTCCAGATGCCAAA
ATGAGTAAAAAAGAAAAAATATCTGAAAAAATGGAAATTAAAGAAGGGGAAGAAACAAAAAAGGAACTGGTCCTAGAAAGCAACCCAAAGTGGGAGGCACTGACT
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ATGGAGTCAGGGCAGCCGGCTCGACGGATTGCCATGGCGCCGCTGCTGGAGTACGAGCGACAGCTGGTGCTGGAACTGCTCGACACTGACGGGCTAGTAGTGTGC
GCCCGCGGGCTCGGCGCGGACCGGCTCCTCTACCACTTTCTCCAGCTGCACTGCCACCCAGCCTGCCTGGTGCTGGTGCTCAACACGCAGCCGGCCGAGGAGGAG
TATTTTATCAATCAGCTGAAGATAGAAGGAGTTGAACACCTCCCTCGCCGTGTAACAAATGAAATCACAAGCAACAGTCGCTATGAAGTTTACACACAAGGTGGT
GTTATATTTGCGACAAGTAGGATACTTGTGGTTGACTTCTTGACTGATAGAATACCTTCAGATTTAATTACTGGCATCTTGGTGTATAGAGCCCACAGAATAATC
GAGTCTTGTCAAGAAGCATTCATCTTGCGCCTCTTTCGCCAGAAAAACAAACGTGGTTTTATTAAAGCTTTCACAGACAATGCTGTTGCCTTTGATACTGGTTTT
TGTCATGTGGAAAGAGTGATGAGAAATCTTTTTGTGAGGAAACTGTATCTGTGGCCAAGGTTCCATGTAGCAGTAAACTCATTTTTAGAACAGCACAAACCTGAA
GTTGTAGAAATCCATGTTTCTATGACACCTACCATGCTTGCTATACAGACTGCTATACTGGACATTTTAAATGCATGTCTAAAGGAACTAAAATGCCATAACCCA
TCGCTTGAAGTGGAAGATTTATCTTTAGAAAATGCTATTGGAAAACCTTTTGACAAGACAATCCGCCATTATCTGGATCCTTTGTGGCACCAGCTTGGAGCCAAG
ACTAAATCCTTAGTTCAGGATTTGAAGATATTACGAACTTTGCTGCAGTATCTCTCTCAGTATGATTGTGTCACATTTCTTAATCTTCTGGAATCTCTGAGAGCA
ACGGAAAAAGCTTTTGGTCAGAATTCAGGTTGGCTGTTTCTTGACTCCAGCACCTCGATGTTTATAAATGCTCGAGCAAGGGTTTATCATCTTCCAGATGCCAAA
ATGAGTAAAAAAGAAAAAATATCTGAAAAAATGGAAATTAAAGAAGGGGAAGAAACAAAAAAGGAACTGGTCCTAGAAAGCAACCCAAAGTGGGAGGCACTGACT
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>ERCC4|2072|protein
MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQLKIEGVEHLPRRVTNEITSNSRYEVYTQGG
VIFATSRILVVDFLTDRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWPRFHVAVNSFLEQHKPE
VVEIHVSMTPTMLAIQTAILDILNACLKELKCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRA
TEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQL
RDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESC
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MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQLKIEGVEHLPRRVTNEITSNSRYEVYTQGG
VIFATSRILVVDFLTDRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWPRFHVAVNSFLEQHKPE
VVEIHVSMTPTMLAIQTAILDILNACLKELKCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRA
TEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQL
RDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESC
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (1) | 0 (0) | 2 (4) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| McCauley, 2005 | - | microsatellite-based genomic screen | | | autism | 158 | - | 158 | - | 333 | - | - |
| Liu, 2001 | USA | microsatellite-based genomic screen | | | autism, ASD | 110 | - | 110 | - | - | - | - |
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | | | autism | 115 | - | 115 | - | - | - | - |
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.