Gene Report

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Basic Info

Approved Symbol	ARID1B
Symbol Alias	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5
Approved Name	AT rich interactive domain 1B (SWI1-like)
Location	6q25.3
Position	chr6:156777374-157210779, 1
External Links	HGNC: 18040 Entrez Gene: 57492 Ensembl: ENSG00000049618 UCSC: uc003qqo.3
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
McQuillin, A.,2011		Gene related CNV occurred in two or more cases but not in controls.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007399	nervous system development	biological process	IEA	40
GO:0003677	DNA binding	molecular function	IEA	83

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[12200431]	563
GO:0016514	SWI/SNF complex	cellular component	IDA[11734557]	1
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0048096	chromatin-mediated maintenance of transcription	biological process	NAS[11734557]	1
GO:0071565	nBAF complex	cellular component	IEA	1
GO:0003713	transcription coactivator activity	molecular function	NAS[11734557]	22
GO:0006351	transcription, DNA-templated	biological process	IEA	103

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ARID1B	SMARCA2	NO	in vitro;in vivo	12200431
ARID1B	SMAD9	NO	yeast 2-hybrid	15231748
ARID1B	SMARCA4	NO	in vitro;in vivo;yeast 2-hybrid	11988099 , 12200431

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_McQuillin[2011]_12	chr6:157140777-157572094 (NCBI Build 36 (hg18))	431318

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6q25.3	chr6:155200000-160600000	2 (0/1/1)
6q25	chr6:148500000-160600000	2 (0/1/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr6:156777374..157210779 View in gBrowse