AutismKB 2.0

Evidence Details for ARID1A


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Basic Information Top
Gene Symbol:ARID1A ( B120,BAF250,BAF250a,BM029,C1orf4,P270,SMARCF1 )
Gene Full Name: AT rich interactive domain 1A (SWI-like)
Band: 1p36.11
Quick LinksEntrez ID:8289; OMIM: 603024; Uniprot ID:ARI1A_HUMAN; ENSEMBL ID: ENSG00000117713; HGNC ID: 11110
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARID1A|8289|nucleotide
ATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCG
GGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGA
AAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGG
AACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCG
GCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGA
CAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCAC
CAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCG
GCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCC
GCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGAC
TACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCG
GGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGCCATCCAGTCCAATGGAT
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>ARID1A|8289|protein
MAAQVAPAAASSLGNPPPPPPSELKKAEQQQREEAGGEAAAAAAAERGEMKAAAGQESEGPAVGPPQPLGKELQDGAESNGGGGGGGAGSGGGPGAEPDLKNSNG
NAGPRPALNNNLTEPPGGGGGGSSDGVGAPPHSAAAALPPPAYGFGQPYGRSPSAVAAAAAAVFHQQHGGQQSPGLAALQSGGGGGLEPYAGPQQNSHDHGFPNH
QYNSYYPNRSAYPPPAPAYALSSPRGGTPGSGAAAAAGSKPPPSSSASASSSSSSFAQQRFGAMGGGGPSAAGGGTPQPTATPTLNQLLTSPSSARGYQGYPGGD
YSGGPQDGGAGKGPADMASQCWGAAAAAAAAAAASGGAQQRSHHAPMSPGSSGGGGQPLARTPQPSSPMDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQ
PYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQQQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQP
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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) 1 (1) 0 (1) 0 (0) 0 (1) 0 (0) 1 (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
Linkage Studies Top
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
Baron, 2006_1 America human EBV-transformed lymphoblastoid cell lines 3
(33.33%)		-autism 3
(33.33%)		 -1.79 Down 0.02
  • Platform: Human Genome GeneChip U95Av2 (HG-U95Av2, Affymetrix Inc., Santa Clara, CA)
  • ProbeSet: 35505_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: t-test using the bootstrap method, food changes
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)		 ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Deciphering Developmental Disorders Study., 2015 - ---ASD - - - 14 -
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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