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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Vazna, 2010 Czech aCGHASD - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top