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BCL9 (B-cell CLL/lymphoma 9)

Written2003-02Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other namesLGS
HGNC (Hugo) BCL9
LocusID (NCBI) 607
Atlas_Id 466
Location 1q21.2
Location_base_pair Starts at 147013271 and ends at 147098020 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Fusion genes
(updated 2016)
BCL9 (1q21.2) / IGH (14q32.33)BCL9 (1q21.2) / IGL (22q11.22)BCL9 (1q21.2) / IVL (1q21.3)
BCL9 (1q21.2) / Ig ()BCL9 (1q21.2) / Immunoglobulin ()BCL9 (1q21.2) / MRPL36 (5p15.33)
BCL9 (1q21.2) / RASAL2 (1q25.2)BCL9 (1q21.2) / SMCP (1q21.3)BCL9 (1q21.2) / VPREB1 (22q11.22)
IGH (14q32.33) / BCL9 (1q21.2)IGL (22q11.22) / BCL9 (1q21.2)MRPL36 (5p15.33) / BCL9 (1q21.2)
UAP1 (1q23.3) / BCL9 (1q21.2)

DNA/RNA

Description 10 exons spanning 85 kb.
Transcription transcripts of 1.6, 4.2, and 6.3 kb.

Protein

Description 1426 amino acids, 149 kDa.
Expression wide
Function Binds to beta-catenin required for Wnt signal transduction
Homology drosophila segment polarity gene legless, encoding wingless-armadillo (WNT - beta-catenin) signaling molecule

Implicated in

Note
Entity t(1;14)(q21;q32) and t(1;22)(q21;q11)
Disease acute lymphoblastic leukemia and non Hodgkin lymphoma
Hybrid/Mutated Gene BCL9 is juxtaposed either with the immunoglobulin heavy chain locus IgH (14q32) or the lambda light-chain locus Igl (22q11)
  

Bibliography

Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21.
Willis TG, Zalcberg IR, Coignet LJ, Wlodarska I, Stul M, Jadayel DM, Bastard C, Treleaven JG, Catovsky D, Silva ML, Dyer MJ
Blood. 1998 ; 91 (6) : 1873-1881.
PMID 9490669
 
Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex.
Kramps T, Peter O, Brunner E, Nellen D, Froesch B, Chatterjee S, Murone M, Züllig S, Basler K
Cell. 2002 ; 109 (1) : 47-60.
PMID 11955446
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
BCL9 (B-cell CLL/lymphoma 9)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):101-101.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/BCL9ID466.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(1;1)(p36;q21) in Non Hodgkin Lymphoma
t(1;14)(q21;q32) BCL9/IGH;t(1;22)(q21;q11) IGL/BCL9
t(1;14)(q21;q32) FCRL4/IGH
t(1;14)(q21;q32);t(1;22)(q21;q11)
t(1;14)(q21;q32) MUC1/IGH

External links

Nomenclature
HGNC (Hugo)BCL9   1008
Cards
AtlasBCL9ID466
Entrez_Gene (NCBI)BCL9  607  B-cell CLL/lymphoma 9
GeneCards (Weizmann)BCL9
Ensembl hg19 (Hinxton)ENSG00000116128 [Gene_View]  chr1:147013271-147098020 [Contig_View]  BCL9 [Vega]
Ensembl hg38 (Hinxton)ENSG00000116128 [Gene_View]  chr1:147013271-147098020 [Contig_View]  BCL9 [Vega]
ICGC DataPortalENSG00000116128
TCGA cBioPortalBCL9
AceView (NCBI)BCL9
Genatlas (Paris)BCL9
WikiGenes607
SOURCE (Princeton)BCL9
Genomic and cartography
GoldenPath hg19 (UCSC)BCL9  -     chr1:147013271-147098020 +  1q21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BCL9  -     1q21   [Description]    (hg38-Dec_2013)
EnsemblBCL9 - 1q21 [CytoView hg19]  BCL9 - 1q21 [CytoView hg38]
Mapping of homologs : NCBIBCL9 [Mapview hg19]  BCL9 [Mapview hg38]
OMIM602597   
Gene and transcription
Genbank (Entrez)AW104430 BC116451 CN281037 CN281038 DA593760
RefSeq transcript (Entrez)NM_004326
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)BCL9
Cluster EST : UnigeneHs.415209 [ NCBI ]
CGAP (NCI)Hs.415209
Alternative Splicing GalleryENSG00000116128
Gene ExpressionBCL9 [ NCBI-GEO ]   BCL9 [ EBI - ARRAY_EXPRESS ]   BCL9 [ SEEK ]   BCL9 [ MEM ]
Gene Expression Viewer (FireBrowse)BCL9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)607
GTEX Portal (Tissue expression)BCL9
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00512 (Uniprot)
NextProtO00512  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00512
Splice isoforms : SwissVarO00512 (Swissvar)
PhosPhoSitePlusO00512
Domains : Interpro (EBI)Bcl-9    BCL9_beta-catenin-bd_dom   
Domain families : Pfam (Sanger)BCL9 (PF11502)   
Domain families : Pfam (NCBI)pfam11502   
DMDM Disease mutations607
Blocks (Seattle)BCL9
PDB (SRS)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
PDB (PDBSum)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
PDB (IMB)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
PDB (RSDB)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
Structural Biology KnowledgeBase2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
SCOP (Structural Classification of Proteins)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
CATH (Classification of proteins structures)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
SuperfamilyO00512
Human Protein AtlasENSG00000116128
Peptide AtlasO00512
HPRD04000
IPIIPI00160290   
Protein Interaction databases
DIP (DOE-UCLA)O00512
IntAct (EBI)O00512
FunCoupENSG00000116128
BioGRIDBCL9
STRING (EMBL)BCL9
ZODIACBCL9
Ontologies - Pathways
QuickGOO00512
Ontology : AmiGOprotein binding  nucleoplasm  Golgi apparatus  cis-Golgi network  beta-catenin binding  myotube differentiation involved in skeletal muscle regeneration  regulation of transforming growth factor beta receptor signaling pathway  somatic stem cell population maintenance  skeletal muscle cell differentiation  positive regulation of transcription from RNA polymerase II promoter  canonical Wnt signaling pathway  beta-catenin-TCF complex assembly  
Ontology : EGO-EBIprotein binding  nucleoplasm  Golgi apparatus  cis-Golgi network  beta-catenin binding  myotube differentiation involved in skeletal muscle regeneration  regulation of transforming growth factor beta receptor signaling pathway  somatic stem cell population maintenance  skeletal muscle cell differentiation  positive regulation of transcription from RNA polymerase II promoter  canonical Wnt signaling pathway  beta-catenin-TCF complex assembly  
REACTOMEO00512 [protein]
REACTOME PathwaysR-HSA-201722 formation of the beta-catenin:TCF transactivating complex [pathway]
REACTOME PathwaysR-HSA-3769402 deactivation of the beta-catenin transactivating complex [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkBCL9
Wikipedia pathwaysBCL9
Orthology - Evolution
OrthoDB607
GeneTree (enSembl)ENSG00000116128
Phylogenetic Trees/Animal Genes : TreeFamBCL9
Homologs : HomoloGeneBCL9
Homology/Alignments : Family Browser (UCSC)BCL9
Gene fusions - Rearrangements
Fusion : MitelmanBCL9/IVL [1q21.2/1q21.3]  
Fusion : MitelmanBCL9/RASAL2 [1q21.2/1q25.2]  [del(1)(q21q25)]  
Fusion : MitelmanBCL9/SMCP [1q21.2/1q21.3]  [t(1;1)(q21;q21)]  
Fusion : MitelmanIGH/BCL9 [14q32.33/1q21.2]  [t(1;14)(q21;q32)]  
Fusion : MitelmanIGL/BCL9 [22q11.22/1q21.2]  [t(1;22)(q21;q11)]  
Fusion : MitelmanUAP1/BCL9 [1q23.3/1q21.2]  [t(1;1)(q21;q23)]  
Fusion: TCGABCL9 1q21.2 IVL 1q21.3 BRCA
Fusion: TCGABCL9 1q21.2 SMCP 1q21.3 BRCA
Fusion: TCGAUAP1 1q23.3 BCL9 1q21.2 BRCA
Fusion : TICdbBCL9 [1q21.2]  -  Ig []
Polymorphisms : SNP, variants
NCBI Variation ViewerBCL9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCL9
dbVarBCL9
ClinVarBCL9
1000_GenomesBCL9 
Exome Variant ServerBCL9
ExAC (Exome Aggregation Consortium)BCL9 (select the gene name)
Genetic variants : HAPMAP607
Genomic Variants (DGV)BCL9 [DGVbeta]
Mutations
ICGC Data PortalBCL9 
TCGA Data PortalBCL9 
Broad Tumor PortalBCL9
OASIS PortalBCL9 [ Somatic mutations - Copy number]
Cancer Gene: CensusBCL9 
Somatic Mutations in Cancer : COSMICBCL9 
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 BCL9
DgiDB (Drug Gene Interaction Database)BCL9
DoCM (Curated mutations)BCL9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCL9 (select a term)
intoGenBCL9
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:147013271-147098020  ENSG00000116128
CONAN: Copy Number AnalysisBCL9 
Mutations and Diseases : HGMDBCL9
OMIM602597   
MedgenBCL9
Genetic Testing Registry BCL9
NextProtO00512 [Medical]
TSGene607
GENETestsBCL9
Huge Navigator BCL9 [HugePedia]
snp3D : Map Gene to Disease607
BioCentury BCIQBCL9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD607
Chemical/Pharm GKB GenePA25318
Clinical trialBCL9
Miscellaneous
canSAR (ICR)BCL9 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCL9
EVEXBCL9
GoPubMedBCL9
iHOPBCL9
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 30 13:53:51 CEST 2016

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jlhuret@AtlasGeneticsOncology.org.