AutismKB 2.0

Evidence Details for HIST1H2AD


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Basic Information Top
Gene Symbol:HIST1H2AD ( H2A.3,H2A/g,H2AFG,HIST1H3D )
Gene Full Name: histone cluster 1, H2ad
Band: 6p22.2
Quick LinksEntrez ID:3013; OMIM: 602792; Uniprot ID:H2A1D_HUMAN; ENSEMBL ID: ENSG00000196866; HGNC ID: 4729
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HIST1H2AD|3013|nucleotide
ATGTCCGGACGCGGCAAGCAAGGCGGAAAGGCCCGAGCTAAGGCTAAGACCCGCTCTTCGCGGGCCGGACTCCAGTTCCCTGTGGGCCGCGTACACCGCTTGCTC
CGCAAGGGCAACTACTCCGAGCGAGTCGGGGCCGGCGCGCCAGTGTATCTGGCGGCGGTGTTGGAGTACCTGACCGCCGAGATCCTGGAGCTGGCGGGCAACGCC
GCCCGCGACAACAAGAAGACCCGCATCATCCCCCGACACCTGCAGCTGGCCATCCGCAACGACGAGGAGCTAAACAAGTTGCTGGGTAAAGTCACAATTGCTCAG
GGCGGTGTTCTGCCCAACATCCAGGCTGTACTGCTCCCCAAGAAGACTGAGAGTCACCACAAGGCCAAGGGCAAGTAA







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>HIST1H2AD|3013|protein
MSGRGKQGGKARAKAKTRSSRAGLQFPVGRVHRLLRKGNYSERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGKVTIAQ
GGVLPNIQAVLLPKKTESHHKAKGK



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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 (0) 0 (0) 0 (0) 0 (0) 2 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top