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

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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 (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