AutismKB 2.0

Evidence Details for HIST1H2AE


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Basic Information Top
Gene Symbol:HIST1H2AE ( H2A.1,H2A.2,H2A/a,H2AFA,HIST1H2AB )
Gene Full Name: histone cluster 1, H2ae
Band: 6p22.2
Quick LinksEntrez ID:3012; OMIM: 602786; Uniprot ID:H2A1B_HUMAN; ENSEMBL ID: ENSG00000168274; HGNC ID: 4724
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HIST1H2AE|3012|nucleotide
ATGTCTGGACGTGGAAAGCAAGGCGGCAAAGCTCGGGCAAAAGCTAAAACGCGTTCTTCCAGGGCCGGTCTTCAGTTTCCAGTTGGCCGTGTGCACCGCCTCCTC
CGCAAAGGCAACTACTCCGAACGAGTCGGGGCCGGCGCTCCAGTGTACCTGGCAGCGGTGCTGGAATATCTGACGGCCGAGATCTTAGAGCTAGCTGGCAACGCG
GCTCGCGACAATAAGAAGACCCGCATCATCCCGCGCCACCTGCAGCTAGCCATCCGCAACGACGAGGAGCTAAATAAGCTTCTAGGTCGCGTGACCATCGCGCAG
GGCGGTGTCCTGCCCAACATCCAGGCCGTATTGCTGCCTAAGAAGACGGAGAGCCACCATAAGGCCAAGGGCAAGTGA







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>HIST1H2AE|3012|protein
MSGRGKQGGKARAKAKTRSSRAGLQFPVGRVHRLLRKGNYSERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGRVTIAQ
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 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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