Evidence Detail for ARID1B

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Basic Information Top
Gene Symbol:ARID1B ( 6A3-5,BAF250B,BRIGHT,DAN15,ELD/OSA1,KIAA1235,OSA2,P250R )
Gene Full Name: AT rich interactive domain 1B (SWI1-like)
Band: 6q25.1
Quick LinksEntrez ID:57492; OMIM: ; Uniprot ID:ARI1B_HUMAN; ENSEMBL ID: ENSG00000049618
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (1) 0 (0) 1 (2) 0 (0) 0 (0) 3 (3) 23 (4)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
(% Women)
ADI-R ADOS Diagnosis Age
Hussman, 2011_1 Discovery 1 (detail) 597 -
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Nord, 2011_1 human lymphoblasts--ASD RNA expression
  • Subjects: 41 (35 females, 6 males)
  • Normal Controls: 367
  • Methods: qRT-PCR
  • Evidence Details: decreased in probands compared with controls.
Halgren, 2011_1 human bloodASD genotype-phenotype interaction
  • Subjects: 8 patients with haploinsufficiency of ARID1B, 3 are diagnosed with ASD
  • Normal Controls: -
  • Methods: Mate-pair sequecing. Q-PCR
  • Evidence Details: "Our finding emphasize that ARID1B is important in human brain development and function in general, and in the development of CC and in speech development in particular"
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0004258 6 6q25.3 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004525 6 6q25.3 loss - - CNVs Only Present In Patients; Nord, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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