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BCOR (BCL6 corepressor)

Identity

Alias_namesBCL6 co-repressor
Alias_symbol (synonym)FLJ20285
KIAA1575
Other aliasANOP2
MAA2
MCOPS2
HGNC (Hugo) BCOR
LocusID (NCBI) 54880
Atlas_Id 43165
Location Xp11.4  [Link to chromosome band Xp11]
Location_base_pair Starts at 40051246 and ends at 40177329 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCOR (Xp11.4) / CCNB3 (Xp11.22)BCOR (Xp11.4) / CHCHD7 (8q12.1)BCOR (Xp11.4) / L3MBTL2 (22q13.2)
BCOR (Xp11.4) / POM121L12 (7p12.1)BCOR (Xp11.4) / RARA (17q21.2)EP300 (22q13.2) / BCOR (Xp11.4)
ZC3H7B (22q13.2) / BCOR (Xp11.4)ZC3H7B 22q13.2 / BCOR Xp11.4BCOR Xp11.4 / L3MBTL2 22q13.2
EP300 22q13.2 / BCOR Xp11.4

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) [ 4 ]
  M3/M3v acute myeloid leukemia (AML M3/M3v)
::Acute promyelocytic leukemia (APL)
::Acute promyelocytic leukemia (APL) PML/RARA

t(8;9)(q24;p13) ?/MYC
t(X;17)(p11;q21) BCOR/RARA
t(5;17)(q35;q21) NPM1/RARA


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Bone: Sarcoma with inv(X)(p11.4p11.22) BCOR/CCNB3
Soft tissue tumors: an overview


External links

Nomenclature
HGNC (Hugo)BCOR   20893
LRG (Locus Reference Genomic)LRG_627
Cards
Entrez_Gene (NCBI)BCOR  54880  BCL6 corepressor
AliasesANOP2; MAA2; MCOPS2
GeneCards (Weizmann)BCOR
Ensembl hg19 (Hinxton)ENSG00000183337 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183337 [Gene_View]  chrX:40051246-40177329 [Contig_View]  BCOR [Vega]
ICGC DataPortalENSG00000183337
TCGA cBioPortalBCOR
AceView (NCBI)BCOR
Genatlas (Paris)BCOR
WikiGenes54880
SOURCE (Princeton)BCOR
Genetics Home Reference (NIH)BCOR
Genomic and cartography
GoldenPath hg38 (UCSC)BCOR  -     chrX:40051246-40177329 -  Xp11.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCOR  -     Xp11.4   [Description]    (hg19-Feb_2009)
EnsemblBCOR - Xp11.4 [CytoView hg19]  BCOR - Xp11.4 [CytoView hg38]
Mapping of homologs : NCBIBCOR [Mapview hg19]  BCOR [Mapview hg38]
OMIM300166   300485   309800   
Gene and transcription
Genbank (Entrez)AB046795 AF317391 AF317392 AK000292 AK056538
RefSeq transcript (Entrez)NM_001123383 NM_001123384 NM_001123385 NM_001130139 NM_017745 NM_020926
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BCOR
Cluster EST : UnigeneHs.659681 [ NCBI ]
CGAP (NCI)Hs.659681
Alternative Splicing GalleryENSG00000183337
Gene ExpressionBCOR [ NCBI-GEO ]   BCOR [ EBI - ARRAY_EXPRESS ]   BCOR [ SEEK ]   BCOR [ MEM ]
Gene Expression Viewer (FireBrowse)BCOR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54880
GTEX Portal (Tissue expression)BCOR
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6W2J9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6W2J9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6W2J9
Splice isoforms : SwissVarQ6W2J9
PhosPhoSitePlusQ6W2J9
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    BCOR    PUFD   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    BCOR (PF15808)    PUFD (PF16553)   
Domain families : Pfam (NCBI)pfam12796    pfam15808    pfam16553   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)BCOR
DMDM Disease mutations54880
Blocks (Seattle)BCOR
PDB (SRS)2N1L    3BIM    4HPL   
PDB (PDBSum)2N1L    3BIM    4HPL   
PDB (IMB)2N1L    3BIM    4HPL   
PDB (RSDB)2N1L    3BIM    4HPL   
Structural Biology KnowledgeBase2N1L    3BIM    4HPL   
SCOP (Structural Classification of Proteins)2N1L    3BIM    4HPL   
CATH (Classification of proteins structures)2N1L    3BIM    4HPL   
SuperfamilyQ6W2J9
Human Protein AtlasENSG00000183337
Peptide AtlasQ6W2J9
HPRD06458
IPIIPI00439548   IPI00100291   IPI00514505   IPI00646676   IPI00646075   IPI00143877   IPI00917046   IPI00645341   IPI00917590   
Protein Interaction databases
DIP (DOE-UCLA)Q6W2J9
IntAct (EBI)Q6W2J9
FunCoupENSG00000183337
BioGRIDBCOR
STRING (EMBL)BCOR
ZODIACBCOR
Ontologies - Pathways
QuickGOQ6W2J9
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative regulation of histone H3-K36 methylation  RNA polymerase II regulatory region sequence-specific DNA binding  transcription corepressor activity  transcription corepressor activity  ubiquitin-protein transferase activity  protein binding  nucleus  transcription, DNA-templated  heart development  transcription factor binding  negative regulation of bone mineralization  heat shock protein binding  PcG protein complex  histone H2A monoubiquitination  odontogenesis  histone deacetylase binding  transcription regulatory region DNA binding  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  negative regulation of histone H3-K4 methylation  palate development  specification of axis polarity  negative regulation of tooth mineralization  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  negative regulation of histone H3-K36 methylation  RNA polymerase II regulatory region sequence-specific DNA binding  transcription corepressor activity  transcription corepressor activity  ubiquitin-protein transferase activity  protein binding  nucleus  transcription, DNA-templated  heart development  transcription factor binding  negative regulation of bone mineralization  heat shock protein binding  PcG protein complex  histone H2A monoubiquitination  odontogenesis  histone deacetylase binding  transcription regulatory region DNA binding  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  negative regulation of histone H3-K4 methylation  palate development  specification of axis polarity  negative regulation of tooth mineralization  
NDEx NetworkBCOR
Atlas of Cancer Signalling NetworkBCOR
Wikipedia pathwaysBCOR
Orthology - Evolution
OrthoDB54880
GeneTree (enSembl)ENSG00000183337
Phylogenetic Trees/Animal Genes : TreeFamBCOR
HOVERGENQ6W2J9
HOGENOMQ6W2J9
Homologs : HomoloGeneBCOR
Homology/Alignments : Family Browser (UCSC)BCOR
Gene fusions - Rearrangements
Fusion : MitelmanBCOR/CCNB3 [Xp11.4/Xp11.22]  
Fusion : MitelmanBCOR/L3MBTL2 [Xp11.4/22q13.2]  [t(X;22)(p11;q13)]  
Fusion : MitelmanBCOR/RARA [Xp11.4/17q21.2]  [t(X;17)(p11;q21)]  
Fusion : MitelmanEP300/BCOR [22q13.2/Xp11.4]  [t(X;22)(p11;q13)]  
Fusion : MitelmanZC3H7B/BCOR [22q13.2/Xp11.4]  [t(X;22)(p11;q13)]  
Fusion: TCGABCOR Xp11.4 L3MBTL2 22q13.2 LGG
Fusion: TCGAEP300 22q13.2 BCOR Xp11.4 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCOR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCOR
dbVarBCOR
ClinVarBCOR
1000_GenomesBCOR 
Exome Variant ServerBCOR
ExAC (Exome Aggregation Consortium)BCOR (select the gene name)
Genetic variants : HAPMAP54880
Genomic Variants (DGV)BCOR [DGVbeta]
DECIPHERBCOR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCOR 
Mutations
ICGC Data PortalBCOR 
TCGA Data PortalBCOR 
Broad Tumor PortalBCOR
OASIS PortalBCOR [ Somatic mutations - Copy number]
Cancer Gene: CensusBCOR 
Somatic Mutations in Cancer : COSMICBCOR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCOR
intOGen PortalBCOR
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
BioMutasearch BCOR
DgiDB (Drug Gene Interaction Database)BCOR
DoCM (Curated mutations)BCOR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCOR (select a term)
intoGenBCOR
Cancer3DBCOR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300166    300485    309800   
Orphanet281    2473    23715   
MedgenBCOR
Genetic Testing Registry BCOR
NextProtQ6W2J9 [Medical]
TSGene54880
GENETestsBCOR
Target ValidationBCOR
Huge Navigator BCOR [HugePedia]
snp3D : Map Gene to Disease54880
BioCentury BCIQBCOR
ClinGenBCOR (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54880
Chemical/Pharm GKB GenePA134921737
Clinical trialBCOR
Miscellaneous
canSAR (ICR)BCOR (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCOR
EVEXBCOR
GoPubMedBCOR
iHOPBCOR
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 Sep 25 18:59:08 CEST 2017

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