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ARID1B (AT-rich interaction domain 1B)

Identity

Alias_namesAT rich interactive domain 1B (SWI1-like)
Alias_symbol (synonym)KIAA1235
ELD/OSA1
p250R
BAF250b
DAN15
6A3-5
Other aliasBAF250B
BRIGHT
CSS1
MRD12
OSA2
P250R
HGNC (Hugo) ARID1B
LocusID (NCBI) 57492
Atlas_Id 53195
Location 6q25.3  [Link to chromosome band 6q25]
Location_base_pair Starts at 156777855 and ends at 157210779 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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) [ 1 ]
  Subcutaneous panniculitis-like T-cell lymphoma


External links

Nomenclature
HGNC (Hugo)ARID1B   18040
LRG (Locus Reference Genomic)LRG_861
Cards
Entrez_Gene (NCBI)ARID1B  57492  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]  chr6:156777855-157210779 [Contig_View]  ARID1B [Vega]
ICGC DataPortalENSG00000049618
TCGA cBioPortalARID1B
AceView (NCBI)ARID1B
Genatlas (Paris)ARID1B
WikiGenes57492
SOURCE (Princeton)ARID1B
Genetics Home Reference (NIH)ARID1B
Genomic and cartography
GoldenPath hg38 (UCSC)ARID1B  -     chr6:156777855-157210779 +  6q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARID1B  -     6q25.3   [Description]    (hg19-Feb_2009)
EnsemblARID1B - 6q25.3 [CytoView hg19]  ARID1B - 6q25.3 [CytoView hg38]
Mapping of homologs : NCBIARID1B [Mapview hg19]  ARID1B [Mapview hg38]
OMIM135900   614556   614562   
Gene and transcription
Genbank (Entrez)AB033061 AF253515 AF259792 AF468300 AF521671
RefSeq transcript (Entrez)NM_001346813 NM_017519 NM_020732
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARID1B
Cluster EST : UnigeneHs.744461 [ NCBI ]
CGAP (NCI)Hs.744461
Alternative Splicing GalleryENSG00000049618
Gene ExpressionARID1B [ NCBI-GEO ]   ARID1B [ EBI - ARRAY_EXPRESS ]   ARID1B [ SEEK ]   ARID1B [ MEM ]
Gene Expression Viewer (FireBrowse)ARID1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57492
GTEX Portal (Tissue expression)ARID1B
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
Splice isoforms : SwissVarQ8NFD5
PhosPhoSitePlusQ8NFD5
Domaine pattern : Prosite (Expaxy)ARID (PS51011)   
Domains : Interpro (EBI)ARID_dom    ARM-like    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
DMDM Disease mutations57492
Blocks (Seattle)ARID1B
PDB (SRS)2CXY    2EH9   
PDB (PDBSum)2CXY    2EH9   
PDB (IMB)2CXY    2EH9   
PDB (RSDB)2CXY    2EH9   
Structural Biology KnowledgeBase2CXY    2EH9   
SCOP (Structural Classification of Proteins)2CXY    2EH9   
CATH (Classification of proteins structures)2CXY    2EH9   
SuperfamilyQ8NFD5
Human Protein AtlasENSG00000049618
Peptide AtlasQ8NFD5
HPRD10660
IPIIPI00015404   IPI00395617   IPI00396577   IPI00023986   IPI00152720   IPI00552725   IPI00742937   IPI00964415   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFD5
IntAct (EBI)Q8NFD5
FunCoupENSG00000049618
BioGRIDARID1B
STRING (EMBL)ARID1B
ZODIACARID1B
Ontologies - Pathways
QuickGOQ8NFD5
Ontology : AmiGODNA binding  transcription coactivator activity  protein binding  nucleoplasm  cytosol  plasma membrane  transcription, DNA-templated  neuron-neuron synaptic transmission  SWI/SNF complex  covalent chromatin modification  chromatin-mediated maintenance of transcription  dendritic spine development  nBAF complex  dendritic cell dendrite assembly  
Ontology : EGO-EBIDNA binding  transcription coactivator activity  protein binding  nucleoplasm  cytosol  plasma membrane  transcription, DNA-templated  neuron-neuron synaptic transmission  SWI/SNF complex  covalent chromatin modification  chromatin-mediated maintenance of transcription  dendritic spine development  nBAF complex  dendritic cell dendrite assembly  
NDEx NetworkARID1B
Atlas of Cancer Signalling NetworkARID1B
Wikipedia pathwaysARID1B
Orthology - Evolution
OrthoDB57492
GeneTree (enSembl)ENSG00000049618
Phylogenetic Trees/Animal Genes : TreeFamARID1B
HOVERGENQ8NFD5
HOGENOMQ8NFD5
Homologs : HomoloGeneARID1B
Homology/Alignments : Family Browser (UCSC)ARID1B
Gene fusions - Rearrangements
Fusion : MitelmanARID1B/ENPP4 [6q25.3/6p21.1]  
Fusion : MitelmanARID1B/PARK2 [6q25.3/6q26]  [t(6;6)(q25;q26)]  
Fusion : MitelmanARID1B/PLEKHG1 [6q25.3/6q25.1]  [t(6;6)(q25;q25)]  
Fusion : MitelmanARID1B/PREP [6q25.3/6q21]  [t(6;6)(q21;q25)]  
Fusion : MitelmanARID1B/SNX9 [6q25.3/6q25.3]  [t(6;6)(q25;q25)]  
Fusion : MitelmanARID1B/SYNE1 [6q25.3/6q25.1]  [t(6;6)(q25;q25)]  
Fusion : MitelmanARID1B/TIAM2 [6q25.3/6q25.3]  [t(6;6)(q25;q25)]  
Fusion : MitelmanARID1B/TMEM242 [6q25.3/6q25.3]  [t(6;6)(q25;q25)]  
Fusion : MitelmanSASH1/ARID1B [6q24.3/6q25.3]  [t(6;6)(q24;q25)]  
Fusion : MitelmanTMEM242/ARID1B [6q25.3/6q25.3]  [t(6;6)(q25;q25)]  
Fusion: TCGAARID1B 6q25.3 AL590867.1 BRCA
Fusion: TCGAARID1B 6q25.3 C6orf35 LUAD
Fusion: TCGAARID1B 6q25.3 ENPP4 6p21.1 LUSC
Fusion: TCGAARID1B 6q25.3 PARK2 6q26 LUAD
Fusion: TCGAARID1B 6q25.3 PLEKHG1 6q25.1 BRCA
Fusion: TCGAARID1B 6q25.3 PREP 6q21 LGG
Fusion: TCGAARID1B 6q25.3 SNX9 6q25.3 BRCA
Fusion: TCGAARID1B 6q25.3 SYNE1 6q25.1 OV
Fusion: TCGAARID1B 6q25.3 TIAM2 6q25.3 GBM
Fusion: TCGAC6orf35 ARID1B 6q25.3 LUAD
Fusion: TCGASASH1 6q24.3 ARID1B 6q25.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARID1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARID1B
dbVarARID1B
ClinVarARID1B
1000_GenomesARID1B 
Exome Variant ServerARID1B
ExAC (Exome Aggregation Consortium)ARID1B (select the gene name)
Genetic variants : HAPMAP57492
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]  
Mutations and Diseases : HGMDARID1B
intOGen PortalARID1B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch ARID1B
DgiDB (Drug Gene Interaction Database)ARID1B
DoCM (Curated mutations)ARID1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARID1B (select a term)
intoGenARID1B
Cancer3DARID1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM135900    614556    614562   
Orphanet321    19611    3183   
MedgenARID1B
Genetic Testing Registry ARID1B
NextProtQ8NFD5 [Medical]
TSGene57492
GENETestsARID1B
Target ValidationARID1B
Huge Navigator ARID1B [HugePedia]
snp3D : Map Gene to Disease57492
BioCentury BCIQARID1B
ClinGenARID1B (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57492
Chemical/Pharm GKB GenePA134909463
Clinical trialARID1B
Miscellaneous
canSAR (ICR)ARID1B (select the gene name)
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARID1B
EVEXARID1B
GoPubMedARID1B
iHOPARID1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 18:58:01 CEST 2017

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