AutismKB 2.0

Evidence Details for WDFY4


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Basic Information Top
Gene Symbol:WDFY4 ( C10orf64,FLJ17416,FLJ36288,FLJ45748,KIAA1607,MGC40604,MGC45899 )
Gene Full Name: WDFY family member 4
Band: 10q11.23
Quick LinksEntrez ID:57705; OMIM: 613316; Uniprot ID:WDFY4_HUMAN; ENSEMBL ID: ENSG00000128815; HGNC ID: 29323
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WDFY4|57705|nucleotide
ATGGAGGCAGAAGATCTTTCAAAGGCTGAAGACAGAAATGAAGACCCAGGTTCCAAAAATGAAGGGCAGCTTGCTGCTGTGCAGCCTGATGTCCCACATGGAGGG
CAGTCCTCCAGCCCCACAGCTCTCTGGGACATGCTGGAAAGGAAGTTTCTGGAATACCAGCAGTTGACTCACAAGAGCCCCATTGAGCGTCAGAAGAGCCTGTTG
AGTCTTCTCCCCCTATTCCTAAAGGCCTGGGAACACTCCGTGGGGATCATCTGCTTTCCCAGTCTCCAAAGGCTGGCTGAAGACGTGTCTGACCAGCTTGCCCAG
CAACTCCAGAAGGCCCTTGTGGGGAAGCCTGCGGAGCAAGCTCGGTTGGCAGCTGGACAGTTGCTGTGGTGGAAGGGGGACGTGGATCAGGATGGCTACTTGCTC
CTGAAGTCAGTGTACGTGCTCACGGGGACAGACTCGGAGACGCTGGGCAGGGTTGCTGAGTCTGGGCTTCCAGCCCTGCTCCTACAGTGCCTTTACCTCTTCTTT
GTCTTTCCTCTGGACAAAGATGAGCTTCTTGAGAGTGATCTTCAAGTTCAAAAGATGTTCGTGCAGATGTTGCTCAATATTTGCAGTGACTCTCAGGGCCTGGAG
GGACTCCTCTCAGGAAGTGAGCTGCAGTCTCTGCTGATTGCCACGACCTGCCTTCGGGAGCACAGCTGCTGCTTCTGGAAGGAACCCACCTTCTGCGTGCTAAGG
GCAATCTCCAAGGCCCAGAACCTCAGCATCATCCAGTACCTGCAGGCCACAGACTGTGTCAGGCTCTCCCTCCAGAACCTCTCCAGGCTCACGGACACTCTCCCT
GCCCCTGAAGTGAGCGAGGCTGTAAGCCTGATCTTGGGATTCGTGAAGGACTCCTACCCCGTCTCCTCGGCTCTGTTCCTGGAGTTTGAGAATTCAGAGGGCTAT
CCTCTGCTGCTCAAAGTGTTACTTCGGTATGATGGGCTGACCCAGAGCGAAGTGGACCCGCATCTGGAGGAGCTCCTTGGGCTGGTGGTGTGGCTGACAACCTGT
GGGAGGTCAGAGCTGAAGGTGTTTGACAGCATCACTTACCCTCAGCTTGAAGGCTTCAAGTTCCATCATGAGGCATCTGGGGTGACTGTTAAGAATCTTCAGGCC
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>WDFY4|57705|protein
MEAEDLSKAEDRNEDPGSKNEGQLAAVQPDVPHGGQSSSPTALWDMLERKFLEYQQLTHKSPIERQKSLLSLLPLFLKAWEHSVGIICFPSLQRLAEDVSDQLAQ
QLQKALVGKPAEQARLAAGQLLWWKGDVDQDGYLLLKSVYVLTGTDSETLGRVAESGLPALLLQCLYLFFVFPLDKDELLESDLQVQKMFVQMLLNICSDSQGLE
GLLSGSELQSLLIATTCLREHSCCFWKEPTFCVLRAISKAQNLSIIQYLQATDCVRLSLQNLSRLTDTLPAPEVSEAVSLILGFVKDSYPVSSALFLEFENSEGY
PLLLKVLLRYDGLTQSEVDPHLEELLGLVVWLTTCGRSELKVFDSITYPQLEGFKFHHEASGVTVKNLQAFQVLQNVFHKASDSVLCIQVLSVIRTMWAWNARNF
FLLEWTLQPISQFVEIMPLKPAPVQEHFFQLLEALVFELHYVPHEILRKVQHLIKESPGPSCTLMALQSILSIAGGDPLFTDIFRDSGLLGLLLAQLRKQAKIMR
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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 (1) 1 (1) 0 (0) 0 (0) 1 (4) 0 (1) 0 (0) 0 (0) 12 (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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
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
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
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