AutismKB 2.0

Evidence Details for WHSC1


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Basic Information Top
Gene Symbol:WHSC1 ( FLJ23286,KIAA1090,MGC176638,MMSET,NSD2,REIIBP,TRX5,WHS )
Gene Full Name: Wolf-Hirschhorn syndrome candidate 1
Band: 4p16.3
Quick LinksEntrez ID:7468; OMIM: 602952; Uniprot ID:NSD2_HUMAN; ENSEMBL ID: ENSG00000109685; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WHSC1|7468|nucleotide
ATGGAATTTAGCATCAAGCAGAGTCCCCTTTCTGTTCAGAGTGTTGTAAAGTGCATAAAGATGAAGCAGGCACCAGAAATCCTCGGCAGTGCCAACGGGAAGACT
CCGAGCTGCGAGGTGAACCGCGAGTGTTCTGTGTTCCTCAGCAAAGCCCAGCTCTCCAGTAGCCTGCAGGAGGGGGTCATGCAGAAGTTTAACGGCCACGACGCC
CTGCCCTTTATTCCAGCCGACAAGCTGAAAGATCTTACTTCCCGGGTGTTTAATGGAGAACCCGGCGCACACGATGCCAAACTGCGTTTTGAGTCCCAGGAAATG
AAAGGGATTGGGACACCCCCTAACACTACCCCTATCAAAAATGGCTCTCCAGAAATTAAGCTGAAAATCACCAAAACATACATGAATGGGAAGCCTCTCTTTGAA
TCTTCCATTTGTGGTGACAGTGCTGCTGATGTGTCTCAGTCAGAAGAAAATGGACAAAAACCAGAAAACAAGGCGAGAAGGAACAGGAAGAGGAGCATAAAATAT
GACTCCTTGCTGGAGCAGGGCCTTGTCGAAGCAGCTCTTGTGTCTAAGATCTCAAGTCCTTCAGATAAAAAGATTCCAGCTAAGAAAGAGTCTTGTCCAAACACT
GGAAGAGACAAAGACCACCTGTTGAAATACAACGTTGGTGATTTGGTGTGGTCCAAAGTGTCGGGTTACCCTTGGTGGCCTTGCATGGTTTCTGCAGATCCACTC
CTTCACAGCTATACCAAACTTAAAGGTCAGAAAAAGAGTGCACGCCAGTATCACGTACAGTTCTTTGGTGACGCCCCAGAAAGAGCTTGGATATTTGAGAAGAGC
CTCGTAGCTTTTGAAGGAGAAGGACAGTTTGAAAAATTATGCCAGGAAAGTGCCAAGCAGGCACCCACGAAAGCTGAGAAAATTAAGCTATTGAAACCAATTTCA
GGGAAATTGAGGGCCCAGTGGGAAATGGGCATTGTTCAAGCAGAAGAAGCTGCAAGCATGTCAGTGGAGGAGCGGAAAGCCAAGTTCACCTTTCTCTATGTGGGG
GACCAGCTTCATCTCAACCCTCAAGTAGCCAAGGAGGCTGGCATTGCTGCAGAGTCTTTGGGAGAAATGGCAGAATCCTCAGGAGTCAGTGAAGAAGCTGCTGAA
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>WHSC1|7468|protein
MEFSIKQSPLSVQSVVKCIKMKQAPEILGSANGKTPSCEVNRECSVFLSKAQLSSSLQEGVMQKFNGHDALPFIPADKLKDLTSRVFNGEPGAHDAKLRFESQEM
KGIGTPPNTTPIKNGSPEIKLKITKTYMNGKPLFESSICGDSAADVSQSEENGQKPENKARRNRKRSIKYDSLLEQGLVEAALVSKISSPSDKKIPAKKESCPNT
GRDKDHLLKYNVGDLVWSKVSGYPWWPCMVSADPLLHSYTKLKGQKKSARQYHVQFFGDAPERAWIFEKSLVAFEGEGQFEKLCQESAKQAPTKAEKIKLLKPIS
GKLRAQWEMGIVQAEEAASMSVEERKAKFTFLYVGDQLHLNPQVAKEAGIAAESLGEMAESSGVSEEAAENPKSVREECIPMKRRRRAKLCSSAETLESHPDIGK
STPQKTAEADPRRGVGSPPGRKKTTVSMPRSRKGDAASQFLVFCQKHRDEVVAEHPDASGEEIEELLRSQWSLLSEKQRARYNTKFALVAPVQAEEDSGNVNGKK
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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 (2) 1 (1) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 2 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top