AutismKB 2.0

Evidence Details for ERCC4


View Evidences View Variants View Annotations
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 LinksEntrez 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
Show »

>ERCC4|2072|protein
MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQLKIEGVEHLPRRVTNEITSNSRYEVYTQGG
VIFATSRILVVDFLTDRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWPRFHVAVNSFLEQHKPE
VVEIHVSMTPTMLAIQTAILDILNACLKELKCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRA
TEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQL
RDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESC
Show »

Evidence summary Top

Click 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 Top
Genome-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 Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS 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 Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018