AutismKB 2.0

Evidence Details for WWC2


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Basic Information Top
Gene Symbol:WWC2 ( BOMB,FLJ22029,FLJ34082 )
Gene Full Name: WW and C2 domain containing 2
Band: 4q35.1
Quick LinksEntrez ID:80014; OMIM: NA; Uniprot ID:WWC2_HUMAN; ENSEMBL ID: ENSG00000151718; HGNC ID: 24148
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WWC2|80014|nucleotide
ATGCCTAGGAGGGCCGGGAGCGGTCAGCTGCCGCTGCCCCGGGGCTGGGAGGAGGCCAGGGACTACGACGGCAAGGTCTTCTACATTGACCACAACACCAGGAGG
ACCAGCTGGATCGACCCCCGGGACAGGTTAACGAAGCCCTTGTCATTTGCTGATTGTGTTGGGGATGAGCTGCCGTGGGGATGGGAAGCAGGGTTTGACCCTCAG
ATTGGTGTCTACTACATCGATCACATCAACAAAACCACGCAGATAGAAGATCCAAGAAAACAATGGAGGGGGGAACAGGAGAAGATGCTCAAGGACTACCTCTCT
GTGGCACAGGATGCCCTCCGGACACAGAAGGAACTGTACCATGTGAAGGAGCAGAGGCTGGCGCTGGCCCTGGATGAATACGTGCGATTAAATGATGCCTATAAG
GAAAAGTCAAGTTCTCACACAAGCTTATTCTCAGGATCTTCATCCAGTACTAAATATGATCCCGATATTTTAAAAGCTGAGATCTCCACTACAAGATTAAGGGTT
AAAAAGCTAAAGAGAGAGCTCTCACAGATGAAGCAGGAACTGCTCTATAAAGAACAAGGCTTTGAAACATTGCAGCAAATTGATAAAAAAATGTCTGGAGGCCAG
AGCGGGTATGAACTCAGTGAAGCCAAAGCCATTCTAACAGAACTAAAATCTATCAGAAAGGCAATTAGCTCAGGAGAAAAAGAAAAACAAGATCTGATGCAGAGT
CTTGCTAAGCTGCAGGAGCGGTTTCATTTGGATCAGAACATTGGCAGATCTGAGCCAGATTTGAGATGTAGTCCTGTGAACTCTCATTTATGTCTCTCCAGACAG
ACCCTTGATGCTGGGTCACAAACAAGCATTTCCGGAGATATTGGAGTAAGAAGTAGATCAAATTTAGCTGAAAAGGTCAGGCTAAGCCTACAGTATGAAGAAGCC
AAAAGAAGTATGGCCAACTTAAAAATTGAACTGTCAAAATTGGACAGTGAGGCCTGGCCTGGGGCACTGGATATTGAGAAGGAAAAACTGATGCTGATTAATGAA
AAAGAAGAACTTTTGAAAGAGCTTCAGTTCGTCACCCCACAGAAACGTACCCAAGATGAATTAGAACGCCTAGAAGCTGAAAGGCAGCGGCTGGAAGAAGAGTTG
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>WWC2|80014|protein
MPRRAGSGQLPLPRGWEEARDYDGKVFYIDHNTRRTSWIDPRDRLTKPLSFADCVGDELPWGWEAGFDPQIGVYYIDHINKTTQIEDPRKQWRGEQEKMLKDYLS
VAQDALRTQKELYHVKEQRLALALDEYVRLNDAYKEKSSSHTSLFSGSSSSTKYDPDILKAEISTTRLRVKKLKRELSQMKQELLYKEQGFETLQQIDKKMSGGQ
SGYELSEAKAILTELKSIRKAISSGEKEKQDLMQSLAKLQERFHLDQNIGRSEPDLRCSPVNSHLCLSRQTLDAGSQTSISGDIGVRSRSNLAEKVRLSLQYEEA
KRSMANLKIELSKLDSEAWPGALDIEKEKLMLINEKEELLKELQFVTPQKRTQDELERLEAERQRLEEELLSVRGTPSRALAERLRLEERRKELLQKLEETTKLT
TYLHSQLKSLSASTLSMSSGSSLGSLASSRGSLNTSSRGSLNSLSSTELYYSSQSDQIDVDYQYKLDFLLQEKSGYIPSGPITTIHENEVVKSPSQPGQSGLCGV
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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (3)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top