AutismKB 2.0

Evidence Details for HMGA1


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Basic Information Top
Gene Symbol:HMGA1 ( HMG-R,HMGA1A,HMGIY,MGC12816,MGC4242,MGC4854 )
Gene Full Name: high mobility group AT-hook 1
Band: 6p21.31
Quick LinksEntrez ID:3159; OMIM: 600701; Uniprot ID:HMGA1_HUMAN; ENSEMBL ID: ENSG00000137309; HGNC ID: 5010
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HMGA1|3159|nucleotide
ATGAGTGAGTCGAGCTCGAAGTCCAGCCAGCCCTTGGCCTCCAAGCAGGAAAAGGACGGCACTGAGAAGCGGGGCCGGGGCAGGCCGCGCAAGCAGCCTCCGAAG
GAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGAAAACCACCACAACTCCAGGAAGG
AAACCAAGGGGCAGACCCAAAAAACTGGAGAAGGAGGAAGAGGAGGGCATCTCGCAGGAGTCCTCGGAGGAGGAGCAGTGA








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>HMGA1|3159|protein
MSESSSKSSQPLASKQEKDGTEKRGRGRPRKQPPKEPSEVPTPKRPRGRPKGSKNKGAAKTRKTTTTPGRKPRGRPKKLEKEEEEGISQESSEEEQ




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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
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