AutismKB 2.0

Evidence Details for HIST1H1A


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Basic Information Top
Gene Symbol:HIST1H1A ( H1.1,H1A,H1F1,HIST1,MGC126642,MGC138345 )
Gene Full Name: histone cluster 1, H1a
Band: 6p22.2
Quick LinksEntrez ID:3024; OMIM: 142709; Uniprot ID:H11_HUMAN; ENSEMBL ID: ENSG00000124610; HGNC ID: 4715
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HIST1H1A|3024|nucleotide
ATGTCTGAAACAGTGCCTCCCGCCCCCGCCGCTTCTGCTGCTCCTGAGAAACCTTTAGCTGGCAAGAAGGCAAAGAAACCTGCTAAGGCTGCAGCAGCCTCCAAG
AAAAAACCCGCTGGCCCTTCCGTGTCAGAGCTGATCGTGCAGGCTGCTTCCTCCTCTAAGGAGCGTGGTGGTGTGTCGTTGGCAGCTCTTAAAAAGGCGCTGGCG
GCCGCAGGCTACGACGTGGAGAAGAACAACAGCCGCATTAAGCTGGGCATTAAGAGCCTGGTAAGCAAGGGAACGTTGGTGCAGACAAAGGGTACCGGAGCCTCG
GGTTCCTTCAAGCTCAACAAGAAGGCGTCCTCCGTGGAAACCAAGCCCGGCGCCTCAAAGGTGGCTACAAAAACTAAGGCAACGGGTGCATCTAAAAAGCTCAAA
AAGGCCACGGGGGCTAGCAAAAAGAGCGTCAAGACTCCGAAAAAGGCTAAAAAGCCTGCGGCAACAAGGAAATCCTCCAAGAATCCAAAAAAACCCAAAACTGTA
AAGCCCAAGAAAGTAGCTAAAAGCCCTGCTAAAGCTAAGGCTGTAAAACCCAAGGCGGCCAAGGCTAGGGTGACGAAGCCAAAGACTGCCAAACCCAAGAAAGCG
GCACCCAAGAAAAAGTAA




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>HIST1H1A|3024|protein
MSETVPPAPAASAAPEKPLAGKKAKKPAKAAAASKKKPAGPSVSELIVQAASSSKERGGVSLAALKKALAAAGYDVEKNNSRIKLGIKSLVSKGTLVQTKGTGAS
GSFKLNKKASSVETKPGASKVATKTKATGASKKLKKATGASKKSVKTPKKAKKPAATRKSSKNPKKPKTVKPKKVAKSPAKAKAVKPKAAKARVTKPKTAKPKKA
APKKK


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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) 1 (1) 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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Guerini, 2010 Italy microsatellite-based genomic screen, SNP-based genomic screenASD 61 61 - - 61 149 210
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)		 ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)		 Fold Change Up/ Down P/Q value
Hu, 2009_1 mixed lymphoblastoid cell lines 21
(-)		autism with nonaffected sib pairsautism 17
(-)		 1.27 Up -
  • Platform: a custom printed microarray containing 39,936 human PCR amplicon probes derived from cDNA clones purchased from Research Genetics (Invitrogen )
  • ProbeSet: -
  • RefSeq_ID/ EST: AI283902
  • GEO_ID: GSE15451
  • Statistic Method: one-class SAM by MeV
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)		 ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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