AutismKB 2.0

Evidence Details for WHAMM


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Basic Information Top
Gene Symbol:WHAMM ( KIAA1971,WHDC1 )
Gene Full Name: WAS protein homolog associated with actin, golgi membranes and microtubules
Band: 15q25.2
Quick LinksEntrez ID:123720; OMIM: 612393; Uniprot ID:WHAMM_HUMAN; ENSEMBL ID: ENSG00000156232; HGNC ID: 30493
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WHAMM|123720|nucleotide
ATGGAGGACGAGCAGCCTGACAGCCTGGAGGGCTGGGTGCCGGTCCGGGAGGGCCTCTTCGCCGAGCCCGAGAGGCACCGGCTGCGCTTCCTGGTGGCCTGGAAC
GGCGCGGAGGGCAAGTTCGCTGTGACTTGTCACGACCGTACCGCGCAGCAGCGGCGGCTGCGCGAGGGGGCCCGGTTGGGGCCCGAGCCCGAGCCCAAGCCTGAG
GCCGCCGTCTCCCCGTCCAGCTGGGCCGGCCTGCTCTCGGCCGCGGGGCTCCGCGGCGCGCACCGGCAGTTGGCGGCGCTGTGGCCGCCTCTGGAGCGCTGCTTC
CCGCGGCTGCCGCCGGAGCTGGACGTGGGCGGCGGCGGGGCCTGGGGTCTGGGGCTCGGGCTGTGGGCGCTGCTGTGGCCGACGCGCGCGGGTCCCGGCGAGGCG
GCGCTGCAGGAGCTGTGCGGGCAGCTGGAACGCTATCTGGGCGCGGCGGCCGACGGCTGCGGCGGCGCCACAGTGCGCGACGCACTCTTCCCGGCTGAGGGCGGC
GCGGCCGACTGCGAAAGCCCGCGCGAGTTCCGGGAGCGGGCCTTGCGCGCGCGGTGGGTCGAGGCGGACGCGCGGCTGCGCCAGGTTATTCAAGGACACGGAAAA
GCCAACACCATGGTAGCATTAATGAACGTTTACCAAGAGGAAGATGAAGCATACCAGGAATTGGTTACCGTGGCAACCATGTTCTTCCAGTACTTATTGCAGCCA
TTTAGGGCTATGCGAGAAGTTGCAACTTTATGTAAGCTTGATATTTTGAAGTCTTTGGATGAGGATGACCTAGGTCCTAGAAGGGTAGTTGCCCTGGAGAAAGAA
GCTGAAGAATGGACCAGACGGGCTGAAGAAGCTGTCGTCTCTATTCAGGATATCACAGTGAATTATTTTAAGGAGACAGTAAAAGCATTAGCAGGAATGCAGAAA
GAAATGGAACAGGATGCGAAGAGATTTGGTCAGGCTGCCTGGGCCACAGCAATTCCCAGGTTGGAAAAACTTCAGCTAATGCTAGCTCGAGAGACTCTGCAACTC
ATGAGAGCGAAAGAGTTGTGTTTAAATCACAAAAGAGCTGAAATTCAGGGAAAGATGGAAGATCTTCCAGAACAAGAAAAAAATACAAATGTTGTAGATGAATTA
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>WHAMM|123720|protein
MEDEQPDSLEGWVPVREGLFAEPERHRLRFLVAWNGAEGKFAVTCHDRTAQQRRLREGARLGPEPEPKPEAAVSPSSWAGLLSAAGLRGAHRQLAALWPPLERCF
PRLPPELDVGGGGAWGLGLGLWALLWPTRAGPGEAALQELCGQLERYLGAAADGCGGATVRDALFPAEGGAADCESPREFRERALRARWVEADARLRQVIQGHGK
ANTMVALMNVYQEEDEAYQELVTVATMFFQYLLQPFRAMREVATLCKLDILKSLDEDDLGPRRVVALEKEAEEWTRRAEEAVVSIQDITVNYFKETVKALAGMQK
EMEQDAKRFGQAAWATAIPRLEKLQLMLARETLQLMRAKELCLNHKRAEIQGKMEDLPEQEKNTNVVDELEIQFYEIQLELYEVKFEILKNEEILLTTQLDSLKR
LIKEKQDEVVYYDPCENPEELKVIDCVVGLQDDKNLEVKELRRQCQQLESKRGRICAKRASLRSRKDQCKENHRFRLQQAEESIRYSRQHHSIQMKRDKIKEEEQ
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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 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top