AutismKB 2.0

Evidence 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
Sequences Top
>ARID1B|57492|nucleotide
ATGGCCCATAACGCGGGCGCCGCGGCCGCCGCCGGCACCCACAGCGCCAAGAGCGGCGGCTCCGAGGCGGCTCTCAAGGAGGGTGGAAGCGCCGCCGCGCTGTCC
TCCTCCTCCTCCTCCTCCGCGGCGGCAGCGGCGGCATCCTCTTCCTCCTCGTCGGGCCCGGGCTCGGCCATGGAGACGGGGCTGCTCCCCAACCACAAACTGAAA
ACCGTTGGCGAAGCCCCCGCCGCGCCGCCCCACCAGCAGCACCACCACCACCACCATGCCCACCACCACCACCACCATGCCCACCACCTCCACCACCACCACGCA
CTACAGCAGCAGCTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACATCCCATTTCCAACAACAACAGCTTG
GGCGGCGCGGGCGGCGGCGCGCCTCAGCCCGGCCCCGACATGGAGCAGCCGCAACATGGAGGCGCCAAGGACAGTGCTGCGGGCGGCCAGGCCGACCCCCCGGGC
CCGCCGCTGCTGAGCAAGCCGGGCGACGAGGACGACGCGCCGCCCAAGATGGGGGAGCCGGCGGGCGGCCGCTACGAGCACCCGGGCTTGGGCGCCCTGGGCACG
CAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGCCGTCCCGGAGTTTAATAATTACTATGGCAGCGCTGCCCCTGCGAGCGGCGGCCCCGGC
GGCCGCGCTGGGCCTTGCTTTGATCAACATGGCGGACAACAAAGCCCCGGGATGGGGATGATGCACTCCGCCTCCGCCGCCGCCGCCGGGGCCCCCGGCAGCATG
GACCCCCTGCAGAACTCCCACGAAGGGTACCCCAACAGCCAGTGCAACCATTATCCGGGCTACAGCCGGCCCGGCGCGGGCGGCGGCGGCGGCGGCGGCGGCGGA
GGAGGAGGAGGCAGCGGAGGAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGAGCAGGAGCGGGAGCTGTGGCGGCGGCGGCCGCGGCGGCGGCGGCAGCAGCA
GGAGGCGGCGGCGGCGGCGGCTATGGGGGCTCGTCCGCGGGGTACGGGGTGCTGAGCTCCCCCCGGCAGCAGGGCGGCGGCATGATGATGGGCCCCGGGGGCGGC
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>ARID1B|57492|protein
MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHA
LQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGT
QQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGG
GGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLN
QLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKR
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 1 (3) 0 (0) 0 (0) 0 (0) 0 (9) 0 (0) 0 (2) 1 (1) 12 (16)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
O'Roak BJ, 2012 2446 - 46 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
Turner TN, 2016 53 - 27 Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN
Stessman HA, 2017 6342 - 74 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
Deciphering Developmental , 2015 15 - 15 Large-scale discovery of novel genetic causes of developmental disorders.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Alvarez-Mora MI, 2016 - Illumina MiSeqASD - - - 44 Sanger sequencing
Doan RN, 2016 - ---ASD - - - - -
Low Scale Gene Studies Top

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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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