AutismKB 2.0

Variant Details 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: 6q25.3
Quick LinksEntrez ID:57492; OMIM: NA; Uniprot ID:ARI1B_HUMAN; ENSEMBL ID: ENSG00000049618; HGNC ID: 18040
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 3 22 0 5 1 0 31
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0004525 6 6q25.3 157209179 157420734 211555 loss external link Nord, 2011
AutCNV0004258 6 6q25.3 156743463 158569886 1826423 loss external link Sanders, 2011
AutCNV0005653 6 6 Krumm N, 2015
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
6 157527664 * 4D, -TGTT Sanger sequencing O'Roak BJ, 2012
6 157510805 * +C/* p.Gln1196ProfsX14 Sanger sequencing O'Roak BJ, 2012
6 157527664 * -TGTT/* p.Phe1798LeufsX52 Sanger sequencing O'Roak BJ, 2012
6 157488271 C T Sanger sequencing De Rubeis S, 2014
6 157488314 C A Sanger sequencing De Rubeis S, 2014
6 157527390 C CG Sanger sequencing De Rubeis S, 2014
6 157528178 A G Sanger sequencingneutral0.0832 De Rubeis S, 2014
6 157525120 A G strongneutral0.0736 Iossifov I, 2014
6 157315964 molecular inversion probe rese Turner TN, 2016
6 157401254 C A molecular inversion probe rese Turner TN, 2016
6 157256598 G c.1888-2A>G Stessman HA, 2017
6 157469898 T c.2653C>T Stessman HA, 2017
6 157502271 C T c.3265C>T p.Arg1089Ter Stessman HA, 2017
6 157527539 A c.5226_5230delAGAAAinsA p.Glu1743AlafsTer9 Stessman HA, 2017
6 157150546 C T HiSeq X and Sanger C Yuen RK, 2017
6 157150546 C T HiSeq X and Sanger C Yuen RK, 2017
6 157527390 C CG Fromer M, 2014
6 157527679 C T Deciphering Developmental , 2015
6 157222647 C A Deciphering Developmental , 2015
6 157469113 p.Gln1196ProfsX1 O'Roak BJ, 2012
6 157485972 p.Phe1798LeufsX5 O'Roak BJ, 2012
6 157100567 AG A Y Turner T, 2017
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
6 156350570 G - Doan RN, 2016
G246S Y Alvarez-Mora MI, 2016
G246S Y Alvarez-Mora MI, 2016
S41F Y Alvarez-Mora MI, 2016
G246S Y Alvarez-Mora MI, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
Halgren, 2011
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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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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