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ARID1B (AT-rich interaction domain 1B)

Identity

Alias (NCBI)6A3-5
BAF250B
BRIGHT
CSS1
DAN15
ELD/OSA1
MRD12
OSA2
P250R
HGNC (Hugo) ARID1B
HGNC Alias symbKIAA1235
ELD/OSA1
p250R
BAF250b
DAN15
6A3-5
HGNC Previous nameAT rich interactive domain 1B (SWI1-like)
LocusID (NCBI) 57492
Atlas_Id 53195
Location 6q25.3  [Link to chromosome band 6q25]
Location_base_pair Starts at 156777378 and ends at 157210779 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARID1B (6q25.3) / AL590867.1 ()ARID1B (6q25.3) / ARID1B (6q25.3)ARID1B (6q25.3) / ENPP4 (6p21.1)
ARID1B (6q25.3) / NCL (2q37.1)ARID1B (6q25.3) / PARK2 (6q26)ARID1B (6q25.3) / PLCG1 (20q12)
ARID1B (6q25.3) / PLEKHG1 (6q25.1)ARID1B (6q25.3) / PREP (6q21)ARID1B (6q25.3) / RAPGEF4 (2q31.1)
ARID1B (6q25.3) / SESTD1 (2q31.2)ARID1B (6q25.3) / SNX9 (6q25.3)ARID1B (6q25.3) / SYNE1 (6q25.1)
ARID1B (6q25.3) / TIAM2 (6q25.3)ARID1B (6q25.3) / TMEM242 (6q25.3)NAE1 (16q22.1) / ARID1B (6q25.3)
SASH1 (6q24.3) / ARID1B (6q25.3)TMEM242 (6q25.3) / ARID1B (6q25.3)ARID1B 6q25.3 AL590867.1
ARID1B 6q25.3 C6orf35ARID1B 6q25.3 / ENPP4 6p21.1ARID1B 6q25.3 / PARK2 6q26
ARID1B 6q25.3 / PLEKHG1 6q25.1ARID1B 6q25.3 / PREP 6q21ARID1B 6q25.3 / SNX9 6q25.3
ARID1B 6q25.3 / SYNE1 6q25.1ARID1B 6q25.3 / TIAM2 6q25.3C6orf35 ARID1B 6q25.3
SASH1 6q24.3 / ARID1B 6q25.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  Subcutaneous panniculitis-like T-cell lymphoma
t(6;12)(q25;p13) ARID1B/ZNF384


External links

 

Nomenclature
HGNC (Hugo)ARID1B   18040
LRG (Locus Reference Genomic)LRG_861
Cards
Entrez_Gene (NCBI)ARID1B    AT-rich interaction domain 1B
Aliases6A3-5; BAF250B; BRIGHT; CSS1; 
DAN15; ELD/OSA1; MRD12; OSA2; P250R
GeneCards (Weizmann)ARID1B
Ensembl hg19 (Hinxton)ENSG00000049618 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000049618 [Gene_View]  ENSG00000049618 [Sequence]  chr6:156777378-157210779 [Contig_View]  ARID1B [Vega]
ICGC DataPortalENSG00000049618
TCGA cBioPortalARID1B
AceView (NCBI)ARID1B
Genatlas (Paris)ARID1B
SOURCE (Princeton)ARID1B
Genetics Home Reference (NIH)ARID1B
Genomic and cartography
GoldenPath hg38 (UCSC)ARID1B  -     chr6:156777378-157210779 +  6q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARID1B  -     6q25.3   [Description]    (hg19-Feb_2009)
GoldenPathARID1B - 6q25.3 [CytoView hg19]  ARID1B - 6q25.3 [CytoView hg38]
ImmunoBaseENSG00000049618
Genome Data Viewer NCBIARID1B [Mapview hg19]  
OMIM135900   614556   
Gene and transcription
Genbank (Entrez)AB033061 AF253515 AF259792 AF468300 AF521671
RefSeq transcript (Entrez)NM_001363725 NM_001371656 NM_001374820 NM_001374828 NM_017519
Consensus coding sequences : CCDS (NCBI)ARID1B
Gene ExpressionARID1B [ NCBI-GEO ]   ARID1B [ EBI - ARRAY_EXPRESS ]   ARID1B [ SEEK ]   ARID1B [ MEM ]
Gene Expression Viewer (FireBrowse)ARID1B [ Firebrowse - Broad ]
GenevisibleExpression of ARID1B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57492
GTEX Portal (Tissue expression)ARID1B
Human Protein AtlasENSG00000049618-ARID1B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFD5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFD5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFD5
PhosPhoSitePlusQ8NFD5
Domaine pattern : Prosite (Expaxy)ARID (PS51011)   
Domains : Interpro (EBI)ARID1B    ARID_dom    ARID_dom_sf    BAF250/Osa    BAF250_C   
Domain families : Pfam (Sanger)ARID (PF01388)    BAF250_C (PF12031)   
Domain families : Pfam (NCBI)pfam01388    pfam12031   
Domain families : Smart (EMBL)BRIGHT (SM00501)  
Conserved Domain (NCBI)ARID1B
PDB (RSDB)2CXY    2EH9   
PDB Europe2CXY    2EH9   
PDB (PDBSum)2CXY    2EH9   
PDB (IMB)2CXY    2EH9   
Structural Biology KnowledgeBase2CXY    2EH9   
SCOP (Structural Classification of Proteins)2CXY    2EH9   
CATH (Classification of proteins structures)2CXY    2EH9   
SuperfamilyQ8NFD5
AlphaFold pdb e-kbQ8NFD5   
Human Protein Atlas [tissue]ENSG00000049618-ARID1B [tissue]
HPRD10660
Protein Interaction databases
DIP (DOE-UCLA)Q8NFD5
IntAct (EBI)Q8NFD5
BioGRIDARID1B
STRING (EMBL)ARID1B
ZODIACARID1B
Ontologies - Pathways
QuickGOQ8NFD5
Ontology : AmiGODNA binding  transcription coactivator activity  protein binding  nucleoplasm  nucleoplasm  cytosol  plasma membrane  regulation of transcription by RNA polymerase II  nervous system development  SWI/SNF complex  SWI/SNF complex  nucleosome binding  brahma complex  ATP-dependent chromatin remodeling  positive regulation of transcription, DNA-templated  chromatin-mediated maintenance of transcription  nBAF complex  
Ontology : EGO-EBIDNA binding  transcription coactivator activity  protein binding  nucleoplasm  nucleoplasm  cytosol  plasma membrane  regulation of transcription by RNA polymerase II  nervous system development  SWI/SNF complex  SWI/SNF complex  nucleosome binding  brahma complex  ATP-dependent chromatin remodeling  positive regulation of transcription, DNA-templated  chromatin-mediated maintenance of transcription  nBAF complex  
NDEx NetworkARID1B
Atlas of Cancer Signalling NetworkARID1B
Wikipedia pathwaysARID1B
Orthology - Evolution
OrthoDB57492
GeneTree (enSembl)ENSG00000049618
Phylogenetic Trees/Animal Genes : TreeFamARID1B
Homologs : HomoloGeneARID1B
Homology/Alignments : Family Browser (UCSC)ARID1B
Gene fusions - Rearrangements
Fusion : MitelmanARID1B/ENPP4 [6q25.3/6p21.1]  
Fusion : MitelmanARID1B/PARK2 [6q25.3/6q26]  
Fusion : MitelmanARID1B/PLEKHG1 [6q25.3/6q25.1]  
Fusion : MitelmanARID1B/PREP [6q25.3/6q21]  
Fusion : MitelmanARID1B/SNX9 [6q25.3/6q25.3]  
Fusion : MitelmanARID1B/SYNE1 [6q25.3/6q25.1]  
Fusion : MitelmanARID1B/TIAM2 [6q25.3/6q25.3]  
Fusion : MitelmanARID1B/TMEM242 [6q25.3/6q25.3]  
Fusion : MitelmanSASH1/ARID1B [6q24.3/6q25.3]  
Fusion : MitelmanTMEM242/ARID1B [6q25.3/6q25.3]  
Fusion : QuiverARID1B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARID1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARID1B
dbVarARID1B
ClinVarARID1B
MonarchARID1B
1000_GenomesARID1B 
Exome Variant ServerARID1B
GNOMAD BrowserENSG00000049618
Varsome BrowserARID1B
ACMGARID1B variants
VarityQ8NFD5
Genomic Variants (DGV)ARID1B [DGVbeta]
DECIPHERARID1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARID1B 
Mutations
ICGC Data PortalARID1B 
TCGA Data PortalARID1B 
Broad Tumor PortalARID1B
OASIS PortalARID1B [ Somatic mutations - Copy number]
Cancer Gene: CensusARID1B 
Somatic Mutations in Cancer : COSMICARID1B  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DARID1B
Mutations and Diseases : HGMDARID1B
intOGen PortalARID1B
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaARID1B
DgiDB (Drug Gene Interaction Database)ARID1B
DoCM (Curated mutations)ARID1B
CIViC (Clinical Interpretations of Variants in Cancer)ARID1B
Cancer3DARID1B
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM135900    614556   
Orphanet321    19611    3183   
DisGeNETARID1B
MedgenARID1B
Genetic Testing Registry ARID1B
NextProtQ8NFD5 [Medical]
GENETestsARID1B
Target ValidationARID1B
Huge Navigator ARID1B [HugePedia]
ClinGenARID1B (curated)
Clinical trials, drugs, therapy
MyCancerGenomeARID1B
Protein Interactions : CTDARID1B
Pharm GKB GenePA134909463
PharosQ8NFD5
Clinical trialARID1B
Miscellaneous
canSAR (ICR)ARID1B
HarmonizomeARID1B
DataMed IndexARID1B
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXARID1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:00:04 CEST 2021

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