AutismKB 2.0

Evidence Details for WDR4


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Basic Information Top
Gene Symbol:WDR4 ( TRM82 )
Gene Full Name: WD repeat domain 4
Band: 21q22.3
Quick LinksEntrez ID:10785; OMIM: 605924; Uniprot ID:WDR4_HUMAN; ENSEMBL ID: ENSG00000160193; HGNC ID: 12756
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WDR4|10785|nucleotide
ATGGCGGGCTCTGTGGGACTGGCGTTGTGCGGGCAGACGTTGGTGGTGCGGGGCGGCAGCCGATTCCTGGCCACCTCCATAGCAAGCAGTGATGATGACAGCCTC
TTCATCTATGACTGCAGTGCTGCAGAAAAGAAGTCACAAGAAAATAAAGGGGAGGACGCGCCCTTGGACCAGGGGAGCGGTGCGATTCTGGCGTCCACCTTCTCC
AAGTCTGGCAGCTATTTTGCTTTAACCGATGACAGTAAGCGTCTGATTCTTTTCCGTACAAAACCATGGCAATGTCTGAGTGTCAGGACCGTGGCAAGGAGGTGT
ACAGCCCTGACTTTCATAGCCTCGGAGGAGAAGGTCTTGGTGGCCGACAAGTCTGGAGACGTCTACTCCTTTTCGGTGCTGGAGCCACACGGGTGTGGCCGTCTA
GAGCTGGGGCACCTGTCTATGCTGTTAGATGTGGCTGTGAGTCCTGATGACCGCTTCATCCTCACTGCCGACCGGGACGAGAAGATCCGAGTCAGCTGGGCCGCG
GCGCCCCATAGCATCGAGTCCTTCTGCTTGGGGCACACAGAGTTTGTGAGCCGTATCTCCGTGGTGCCAACTCAGCCCGGGCTGCTTCTGTCCTCCTCTGGGGAC
GGCACCCTGAGGCTCTGGGAGTACAGGAGCGGCCGCCAGCTGCACTGCTGTCACCTGGCCAGTCTGCAGGAGCTGGTGGACCCCCAGGCCCCCCAGAAGTTTGCC
GCGTCCAGGATTGCATTCTGGTGCCAGGAGAACTGCGTGGCGCTCCTGTGCGACGGCACTCCTGTGGTCTACATCTTCCAGCTGGACGCCCGCAGACAGCAGTTG
GTGTACAGGCAGCAGCTGGCGTTCCAGCACCAAGTGTGGGACGTGGCTTTCGAGGAGACCCAGGGGCTGTGGGTGCTCCAGGACTGCCAGGAAGCCCCCCTGGTG
CTCTACAGGCCTGTGGGCGACCAGTGGCAGTCTGTTCCTGAGAGCACCGTGTTAAAGAAAGTCTCTGGTGTTCTTCGTGGGAACTGGGCCATGCTGGAAGGCTCT
GCCGGCGCAGACGCCAGCTTCAGCAGTCTCTACAAGGCCACGTTCGACAACGTGACCTCCTACCTGAAGAAGAAAGAGGAGAGACTGCAGCAGCAGCTAGAGAAG
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>WDR4|10785|protein
MAGSVGLALCGQTLVVRGGSRFLATSIASSDDDSLFIYDCSAAEKKSQENKGEDAPLDQGSGAILASTFSKSGSYFALTDDSKRLILFRTKPWQCLSVRTVARRC
TALTFIASEEKVLVADKSGDVYSFSVLEPHGCGRLELGHLSMLLDVAVSPDDRFILTADRDEKIRVSWAAAPHSIESFCLGHTEFVSRISVVPTQPGLLLSSSGD
GTLRLWEYRSGRQLHCCHLASLQELVDPQAPQKFAASRIAFWCQENCVALLCDGTPVVYIFQLDARRQQLVYRQQLAFQHQVWDVAFEETQGLWVLQDCQEAPLV
LYRPVGDQWQSVPESTVLKKVSGVLRGNWAMLEGSAGADASFSSLYKATFDNVTSYLKKKEERLQQQLEKKQRRRSPPPGPDGHAKKMRPGEATLSC

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Evidence summary Top

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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 (0) 0 (4) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 0 (0) 0 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
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
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Low Scale Gene Studies Top

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  (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