ARID1B (AT-rich interaction domain 1B)

2013-03-01  

Identity

HGNC
LOCATION
6q25.3
LOCUSID
ALIAS
6A3-5,BAF250B,BRIGHT,CSS1,DAN15,ELD/OSA1,MRD12,OSA2,P250R
FUSION GENES

Other Information

Locus ID:

NCBI: 57492
MIM: 614556
HGNC: 18040
Ensembl: ENSG00000049618

Variants:

dbSNP: 57492
ClinVar: 57492
TCGA: ENSG00000049618
COSMIC: ARID1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000049618ENST00000319584H0Y2R3
ENSG00000049618ENST00000346085A0A3F2YNW7
ENSG00000049618ENST00000350026Q8NFD5
ENSG00000049618ENST00000400790H0Y3S9
ENSG00000049618ENST00000414678H0Y7H8
ENSG00000049618ENST00000494260A0A1B0GUG2
ENSG00000049618ENST00000635849A0A1B0GWJ2
ENSG00000049618ENST00000635928A0A1B0GTI6
ENSG00000049618ENST00000635957A0A1B0GV63
ENSG00000049618ENST00000636607A0A1B0GUC6
ENSG00000049618ENST00000636748A0A1B0GU09
ENSG00000049618ENST00000636930Q8NFD5
ENSG00000049618ENST00000637003A0A1B0GTE8
ENSG00000049618ENST00000637015A0A1B0GTJ8
ENSG00000049618ENST00000637532A0A1B0GV92
ENSG00000049618ENST00000637568A0A1B0GVH0
ENSG00000049618ENST00000637810Q8NFD5
ENSG00000049618ENST00000637887A0A1B0GWI8
ENSG00000049618ENST00000637904A0A1B0GVK1
ENSG00000049618ENST00000638000A0A1B0GU65
ENSG00000049618ENST00000647938Q8NFD5

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
RMTs methylate histone argininesREACTOMER-HSA-3214858

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
232021282013Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma.170
245623832014ARID1B is a specific vulnerability in ARID1A-mutant cancers.107
224263092012Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.106
172559392007Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell-cycle control.98
224050892012Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.86
243663602014The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis.73
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
151703882004Two related ARID family proteins are alternative subunits of human SWI/SNF complexes.60
218011632012Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.49
214482372011Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.48

Citation

Dessen P

ARID1B (AT-rich interaction domain 1B)

Atlas Genet Cytogenet Oncol Haematol. 2013-03-01

Online version: http://atlasgeneticsoncology.org/gene/53195/arid1b