AutismKB 2.0

Evidence Details for WWC3


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Basic Information Top
Gene Symbol:WWC3 ( BM042,KIAA1280 )
Gene Full Name: WWC family member 3
Band: Xp22.2
Quick LinksEntrez ID:55841; OMIM: NA; Uniprot ID:WWC3_HUMAN; ENSEMBL ID: ENSG00000047644; HGNC ID: 29237
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WWC3|55841|nucleotide
ATGGACCACATAAATAAACTTACCCAGATTGAGGATCCAAGAGAACAGTGGAGGCGAGAGCAAGAGCGCATGTTGAAGGAATATTTAATTGTAGCTCAGGAGGCT
CTCAATGCCAAGAAAGAAATCTACCAGATTAAGCAGCAGCGGTTCGAGCTGGCCCAGGAGGAATACCAGCAGCTGCACAAAATGTGTGAGGATGACAGCCGCTCG
TACGCCAGCTCATTCTCTGGATATTCAACAAATACAAAGTATGACCCACACCAAATTAAAGCAGAAATAGCAAGTCGTCGGGATAGGCTTTCCAGATTAAAACGA
GAGCTGACCCAGATGAAGCAGGAACTGCAGTACAAAGAAAAGGGGGTGGAGACCCTGCAAGAGATTGATCGGAAGATGTCAAGTACTCACACCAGCTACAAACTG
GATGAGGCGCAGGCTATCATGAGTGAGCTCCGGACCATCAAGAAGGCCATTTGCACAGGCGAGAAGGAGAGGCGGGACCTGATGCATAGCCTGGCCAAGCTGACC
GATAGCTTCAAGAACAGCTGCTCCGTTACCGACTCTCTAGTGGACTTCCCTCACCATGTAGGCGTGCCTGGCGATGCTGGTGTACCCCAGCAGTTCTGCGATGCC
GGCTCCCAGACTGATATCATCGGGGAGTTTGTCTTTGATGATAAAACAAGACTTGTAGACCGAGTCAGACTTAATTGGCAATATGAAGAAGCCAGAAAGAGAGTC
GCCAACATCCAGCAGCAGCTGGCCCGGCTTGACAATGAGTCCTGGCCAAGCACGGCCGAGGCTGACAGGGACCGGCTGCAGCTCATCAAGGAGAAGGAGGCCCTG
CTGCAGGAGCTTCAGCTCATCATTGCACAGCGCCGCTCTGCGGGAGATGTGGCCCGGCTGGAGGAGGAGCGGGAGCGCCTAGAGGAGGAGCTGCGGCGTGCACGG
GCCACCTCCGCACAGGGCGCCACGGAGAGGATTCTGCTTCAGGAAAAAAGGAATTGTCTACTTATGCAGCTGGAAGAAGCCACCCGCTTAACATCCTACCTCCAG
TCCCAGTTAAAAAGCCTGTGTGCCAGCACCCTGACGGTGTCCTCGGGGAGCAGCCGCGGGTCCCTAGCCTCCAGCCGTGGGTCTCTGGCCTCCAGCCGGGGCTCC
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>WWC3|55841|protein
MDHINKLTQIEDPREQWRREQERMLKEYLIVAQEALNAKKEIYQIKQQRFELAQEEYQQLHKMCEDDSRSYASSFSGYSTNTKYDPHQIKAEIASRRDRLSRLKR
ELTQMKQELQYKEKGVETLQEIDRKMSSTHTSYKLDEAQAIMSELRTIKKAICTGEKERRDLMHSLAKLTDSFKNSCSVTDSLVDFPHHVGVPGDAGVPQQFCDA
GSQTDIIGEFVFDDKTRLVDRVRLNWQYEEARKRVANIQQQLARLDNESWPSTAEADRDRLQLIKEKEALLQELQLIIAQRRSAGDVARLEEERERLEEELRRAR
ATSAQGATERILLQEKRNCLLMQLEEATRLTSYLQSQLKSLCASTLTVSSGSSRGSLASSRGSLASSRGSLSSVSFTDIYGLPQYEKPDAEGSQLLRFDLIPFDS
LGRDAPFSEPPGPSGFHKQRRSLDTPQSLASLSSRSSLSSLSPPSSPLDTPFLPASRDSPLAQLADSCEGPGLGALDRLRAHASAMGDEDLPGMAALQPHGVPGD
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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) 1 (5) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (6)
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
Thomas, 1999 - FISHautism - - - - 3 - 3
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Vazna, 2010 Czech aCGHASD - - - - 1 - 1
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
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
Jiang YH, 2013 - 32 39 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome seque
NGS Mosaic SNV Studies Top
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