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BCL7B (B-cell CLL/lymphoma 7B)

Written2008-12Nicola Potter
Department of Molecular Neuroscience, Institute of Neurology, University College London, National Hospital for Neurology, Neurosurgery, London, WC1N 3BG, UK

(Note : for Links provided by Atlas : click)

Identity

Alias_namesB-cell CLL/lymphoma 7B
Other alias
HGNC (Hugo) BCL7B
LocusID (NCBI) 9275
Atlas_Id 779
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 73536353 and ends at 73557735 bp from pter ( according to hg19-Feb_2009)  [Mapping BCL7B.png]
Local_order BCL7B is flanked by BAZ1B and TBL2.
Fusion genes
(updated 2016)
DENND5B (12p11.21) / BCL7B (7q11.23)NSUN5 (7q11.23) / BCL7B (7q11.23)SMCO4 (11q21) / BCL7B (7q11.23)

DNA/RNA

Note Members of the BCL7 family have significant sequence similarity at their N-terminus.
Description The gene spans 21.339kb and includes 6 exons.
Transcription The mRNA transcript is 1690bp in length.

Protein

Description The protein product of this gene is 202aa and alternative splicing generates 3 isoforms.
Expression Little is known about the expression pattern of this gene in human tissues. However, serial analysis of gene expression (SAGE) data suggests that gene transcripts are present at low levels in the brain and a variety of breast cells. Data is not available for other tissues. BCL7B has also been shown to be under-expressed in paediatric pilocytic astocytomas, suggesting that this gene may play a role in tumour development.
Function Unknown
Homology BCL7B shares 90% sequence homology in the amino-terminal 51 amino acids with human BCL7A from the same gene family.

Implicated in

Note
  
Entity Paediatric pilocytic astrocytoma
Disease The loss of BCL7B expression in paediatric pilocytic astrocytoma correlated with a small region of deletion at 7q11.23 in 86% of tumours investigated. The role of this gene in tumour development is still to be determined.
  
  
Entity Burkitt lymphoma
Note The BCL7A protein is encoded by a gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line.
  
  
Entity Williams Syndrome
Disease BCL7B is located in a chromosomal region commonly deleted in Williams syndrome. The role of BCL7B loss in this syndrome is yet to be established. Furthermore, in rare cases, malignancies have presented in patients with Williams syndrome including non-Hodgkin lymphoma in a 29-year-old woman and a 8 year old boy and an astrocytoma in a 5-year-old child.
  

Bibliography

Non-Hodgkin lymphoma in a child with Williams syndrome.
Amenta S, Moschovi M, Sofocleous C, Kostaridou S, Mavrou A, Fryssira H.
Cancer Genet Cytogenet. 2004 Oct 1;154(1):86-8.
PMID 15381380
 
Occurrence of non-Hodgkin's lymphoma in Williams syndrome: case report.
Felice PV, Ritter SD, Anto J.
Angiology. 1994 Feb;45(2):167-70.
PMID 8129194
 
The BCL7 gene family: deletion of BCL7B in Williams syndrome.
Jadayel DM, Osborne LR, Coignet LJ, Zani VJ, Tsui LC, Scherer SW, Dyer MJ.
Gene. 1998 Dec 11;224(1-2):35-44.
PMID 9931421
 
Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes.
Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, Morris CA, Keating MT.
Hum Genet. 1998 Nov;103(5):590-9.
PMID 9860302
 
Genomic deletions correlate with underexpression of novel candidate genes at six loci in pediatric pilocytic astrocytoma.
Potter N, Karakoula A, Phipps KP, Harkness W, Hayward R, Thompson DN, Jacques TS, Harding B, Thomas DG, Palmer RW, Rees J, Darling J, Warr TJ.
Neoplasia. 2008 Aug;10(8):757-72.
PMID 18670637
 
Occurrence of an astrocytoma in a patient with Williams syndrome.
Semmekrot BA, Rotteveel JJ, Bakker-Niezen SH, Logt F.
Pediatr Neurosci. 1985-1986;12(3):188-91.
PMID 3843262
 

Citation

This paper should be referenced as such :
Potter, N
BCL7B (B-cell CLL/lymphoma 7B)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(11):778-779.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/BCL7BID779ch7q11.html


External links

Nomenclature
HGNC (Hugo)BCL7B   1005
Cards
AtlasBCL7BID779ch7q11
Entrez_Gene (NCBI)BCL7B  9275  BCL tumor suppressor 7B
Aliases
GeneCards (Weizmann)BCL7B
Ensembl hg19 (Hinxton)ENSG00000106635 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106635 [Gene_View]  chr7:73536353-73557735 [Contig_View]  BCL7B [Vega]
ICGC DataPortalENSG00000106635
TCGA cBioPortalBCL7B
AceView (NCBI)BCL7B
Genatlas (Paris)BCL7B
WikiGenes9275
SOURCE (Princeton)BCL7B
Genetics Home Reference (NIH)BCL7B
Genomic and cartography
GoldenPath hg38 (UCSC)BCL7B  -     chr7:73536353-73557735 -  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCL7B  -     7q11.23   [Description]    (hg19-Feb_2009)
EnsemblBCL7B - 7q11.23 [CytoView hg19]  BCL7B - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIBCL7B [Mapview hg19]  BCL7B [Mapview hg38]
OMIM605846   
Gene and transcription
Genbank (Entrez)AJ223979 AK290091 AL525884 AL553260 AW328570
RefSeq transcript (Entrez)NM_001197244 NM_001301061 NM_001707 NM_138707
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BCL7B
Cluster EST : UnigeneHs.647051 [ NCBI ]
CGAP (NCI)Hs.647051
Alternative Splicing GalleryENSG00000106635
Gene ExpressionBCL7B [ NCBI-GEO ]   BCL7B [ EBI - ARRAY_EXPRESS ]   BCL7B [ SEEK ]   BCL7B [ MEM ]
Gene Expression Viewer (FireBrowse)BCL7B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9275
GTEX Portal (Tissue expression)BCL7B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BQE9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BQE9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BQE9
Splice isoforms : SwissVarQ9BQE9
PhosPhoSitePlusQ9BQE9
Domains : Interpro (EBI)BCL7   
Domain families : Pfam (Sanger)BCL_N (PF04714)   
Domain families : Pfam (NCBI)pfam04714   
Conserved Domain (NCBI)BCL7B
DMDM Disease mutations9275
Blocks (Seattle)BCL7B
SuperfamilyQ9BQE9
Human Protein AtlasENSG00000106635
Peptide AtlasQ9BQE9
HPRD05786
IPIIPI00550034   IPI00446541   IPI00142539   IPI00927192   IPI00953612   IPI00926768   IPI00924882   
Protein Interaction databases
DIP (DOE-UCLA)Q9BQE9
IntAct (EBI)Q9BQE9
FunCoupENSG00000106635
BioGRIDBCL7B
STRING (EMBL)BCL7B
ZODIACBCL7B
Ontologies - Pathways
QuickGOQ9BQE9
Ontology : AmiGOactin binding  protein binding  cellular_component  apoptotic process  biological_process  Wnt signaling pathway  cell differentiation  
Ontology : EGO-EBIactin binding  protein binding  cellular_component  apoptotic process  biological_process  Wnt signaling pathway  cell differentiation  
NDEx NetworkBCL7B
Atlas of Cancer Signalling NetworkBCL7B
Wikipedia pathwaysBCL7B
Orthology - Evolution
OrthoDB9275
GeneTree (enSembl)ENSG00000106635
Phylogenetic Trees/Animal Genes : TreeFamBCL7B
HOVERGENQ9BQE9
HOGENOMQ9BQE9
Homologs : HomoloGeneBCL7B
Homology/Alignments : Family Browser (UCSC)BCL7B
Gene fusions - Rearrangements
Fusion : MitelmanNSUN5/BCL7B [7q11.23/7q11.23]  [dup(7)(q11q11)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCL7B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCL7B
dbVarBCL7B
ClinVarBCL7B
1000_GenomesBCL7B 
Exome Variant ServerBCL7B
ExAC (Exome Aggregation Consortium)BCL7B (select the gene name)
Genetic variants : HAPMAP9275
Genomic Variants (DGV)BCL7B [DGVbeta]
DECIPHERBCL7B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCL7B 
Mutations
ICGC Data PortalBCL7B 
TCGA Data PortalBCL7B 
Broad Tumor PortalBCL7B
OASIS PortalBCL7B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCL7B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCL7B
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 BCL7B
DgiDB (Drug Gene Interaction Database)BCL7B
DoCM (Curated mutations)BCL7B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCL7B (select a term)
intoGenBCL7B
NCG5 (London)BCL7B
Cancer3DBCL7B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605846   
Orphanet
MedgenBCL7B
Genetic Testing Registry BCL7B
NextProtQ9BQE9 [Medical]
TSGene9275
GENETestsBCL7B
Target ValidationBCL7B
Huge Navigator BCL7B [HugePedia]
snp3D : Map Gene to Disease9275
BioCentury BCIQBCL7B
ClinGenBCL7B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9275
Chemical/Pharm GKB GenePA25315
Clinical trialBCL7B
Miscellaneous
canSAR (ICR)BCL7B (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCL7B
EVEXBCL7B
GoPubMedBCL7B
iHOPBCL7B
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 16:57:58 CEST 2017

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