AutismKB 2.0

Evidence Details for WAC


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Basic Information Top
Gene Symbol:WAC ( BM-016,MGC10753,PRO1741,Wwp4,bA48B24,bA48B24.1 )
Gene Full Name: WW domain containing adaptor with coiled-coil
Band: 10p12.1
Quick LinksEntrez ID:51322; OMIM: NA; Uniprot ID:WAC_HUMAN; ENSEMBL ID: ENSG00000095787; HGNC ID: 17327
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WAC|51322|nucleotide
ATGGTAATGTATGCGAGGAAACAGCAGAGACTCAGTGATGGCTGTCACGACCGGAGGGGGGACTCGCAGCCTTACCAGGCACTTAAGTATTCATCGAAGAGTCAC
CCCAGTAGCGGTGATCACAGACATGAAAAGATGCGAGACGCCGGAGATCCTTCACCACCAAATAAAATGTTGCGGAGATCTGATAGTCCTGAAAACAAATACAGT
GACAGCACAGGTCACAGTAAGGCCAAAAATGTGCATACTCACAGAGTTAGAGAGAGGGATGGTGGGACCAGTTACTCTCCACAAGAAAATTCACACAACCACAGT
GCTCTTCATAGTTCAAATTCACATTCTTCTAATCCAAGCAATAACCCAAGCAAAACTTCAGATGCACCTTATGATTCTGCAGATGACTGGTCTGAGCATATTAGC
TCTTCTGGGAAAAAGTACTACTACAATTGTCGAACAGAAGTTTCACAATGGGAAAAACCAAAAGAGTGGCTTGAAAGAGAACAGAGACAAAAAGAAGCAAACAAG
ATGGCAGTCAACAGCTTCCCAAAAGATAGGGATTACAGAAGAGAGGTGATGCAAGCAACAGCCACTAGTGGGTTTGCCAGTGGAATGGAAGACAAGCATTCCAGT
GATGCCAGTAGTTTGCTCCCACAGAATATTTTGTCTCAAACAAGCAGACACAATGACAGAGACTACAGACTGCCAAGAGCAGAGACTCACAGTAGTTCTACGCCA
GTACAGCACCCCATCAAACCAGTGGTTCATCCAACTGCTACCCCAAGCACTGTTCCTTCTAGTCCATTTACGCTACAGTCTGATCACCAGCCAAAGAAATCATTT
GATGCTAATGGAGCATCTACTTTATCAAAACTGCCTACACCCACATCTTCTGTCCCTGCACAGAAAACAGAAAGAAAAGAATCTACATCAGGAGACAAACCCGTA
TCACATTCTTGCACAACTCCTTCCACGTCTTCTGCCTCTGGACTGAACCCCACATCTGCACCTCCAACATCTGCTTCAGCGGTCCCTGTTTCTCCTGTTCCACAG
TCGCCAATACCTCCCTTACTTCAGGACCCAAATCTTCTTAGACAATTGCTTCCTGCTTTGCAAGCCACGCTGCAGCTTAATAATTCTAATGTGGACATATCTAAA
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>WAC|51322|protein
MVMYARKQQRLSDGCHDRRGDSQPYQALKYSSKSHPSSGDHRHEKMRDAGDPSPPNKMLRRSDSPENKYSDSTGHSKAKNVHTHRVRERDGGTSYSPQENSHNHS
ALHSSNSHSSNPSNNPSKTSDAPYDSADDWSEHISSSGKKYYYNCRTEVSQWEKPKEWLEREQRQKEANKMAVNSFPKDRDYRREVMQATATSGFASGMEDKHSS
DASSLLPQNILSQTSRHNDRDYRLPRAETHSSSTPVQHPIKPVVHPTATPSTVPSSPFTLQSDHQPKKSFDANGASTLSKLPTPTSSVPAQKTERKESTSGDKPV
SHSCTTPSTSSASGLNPTSAPPTSASAVPVSPVPQSPIPPLLQDPNLLRQLLPALQATLQLNNSNVDISKINEVLTAAVTQASLQSIIHKFLTAGPSAFNITSLI
SQAAQLSTQAQPSNQSPMSLTSDASSPRSYVSPRISTPQTNTVPIKPLISTPPVSSQPKVSTPVVKQGPVSQSATQQPVTADKQQGHEPVSPRSLQRSSSQRSPS
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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 (0) 1 (2) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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 - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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.
Stessman HA, 2017 6342 - 74 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
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.

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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