AutismKB 2.0

Evidence Details for BRWD1


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Basic Information Top
Gene Symbol:BRWD1 ( C21orf107,FLJ43918,N143,WDR9 )
Gene Full Name: bromodomain and WD repeat domain containing 1
Band: 21q22.2
Quick LinksEntrez ID:54014; OMIM: NA; Uniprot ID:BRWD1_HUMAN; ENSEMBL ID: ENSG00000185658; HGNC ID: 12760
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BRWD1|54014|nucleotide
ATGGCGGAGCCGTCGTCCGCCCGACGCCCGGTGCCTCTCATCGAGTCGGAGCTGTACTTCCTTATCGCCCGGTACCTATCGGCGGGCCCGTGTCGGAGAGCGGCC
CAGGTGCTGGTGCAGGAGCTGGAGCAGTACCAGTTGTTGCCGAAGAGATTGGACTGGGAGGGCAACGAGCACAACAGGAGCTACGAGGAGTTGGTCTTGTCCAAT
AAGCATGTGGCTCCTGATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTGGATAAAGAAATTCCACCCAGTATTTCAAGAGTCACTTCTTTACTTGGT
GCAGGAAGGCAGTCTTTGCTACGTACAGCAAAAGGTACCTTAATTTGA







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>BRWD1|54014|protein
MAEPSSARRPVPLIESELYFLIARYLSAGPCRRAAQVLVQELEQYQLLPKRLDWEGNEHNRSYEELVLSNKHVAPDHLLQICQRIGPMLDKEIPPSISRVTSLLG
AGRQSLLRTAKGTLI



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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 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top