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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)


HGNC Previous nameB-cell CLL/lymphoma 7B
 BCL tumor suppressor 7B
 BCL7B, BAF complex component
LocusID (NCBI) 9275
Atlas_Id 779
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 73536356 and ends at 73557690 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping BCL7B.png]
Local_order BCL7B is flanked by BAZ1B and TBL2.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DENND5B (12p11.21)::BCL7B (7q11.23)NSUN5 (7q11.23)::BCL7B (7q11.23)SMCO4 (11q21)::BCL7B (7q11.23)


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.


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

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.


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


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 ]

External links


HGNC (Hugo)BCL7B   1005
Entrez_Gene (NCBI)BCL7B    BAF chromatin remodeling complex subunit BCL7B
GeneCards (Weizmann)BCL7B
Ensembl hg19 (Hinxton)ENSG00000106635 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106635 [Gene_View]  ENSG00000106635 [Sequence]  chr7:73536356-73557690 [Contig_View]  BCL7B [Vega]
ICGC DataPortalENSG00000106635
TCGA cBioPortalBCL7B
Genatlas (Paris)BCL7B
SOURCE (Princeton)BCL7B
Genetics Home Reference (NIH)BCL7B
Genomic and cartography
GoldenPath hg38 (UCSC)BCL7B  -     chr7:73536356-73557690 -  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCL7B  -     7q11.23   [Description]    (hg19-Feb_2009)
GoldenPathBCL7B - 7q11.23 [CytoView hg19]  BCL7B - 7q11.23 [CytoView hg38]
Genome Data Viewer NCBIBCL7B [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AJ223979 AK290091 AL525884 AL553260 AW328570
RefSeq transcript (Entrez)NM_001197244 NM_001301061 NM_001707 NM_138707
Consensus coding sequences : CCDS (NCBI)BCL7B
Gene ExpressionBCL7B [ NCBI-GEO ]   BCL7B [ EBI - ARRAY_EXPRESS ]   BCL7B [ SEEK ]   BCL7B [ MEM ]
Gene Expression Viewer (FireBrowse)BCL7B [ Firebrowse - Broad ]
GenevisibleExpression of BCL7B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9275
GTEX Portal (Tissue expression)BCL7B
Human Protein AtlasENSG00000106635-BCL7B [pathology]   [cell]   [tissue]
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
Domains : Interpro (EBI)BCL7   
Domain families : Pfam (Sanger)BCL_N (PF04714)   
Domain families : Pfam (NCBI)pfam04714   
Conserved Domain (NCBI)BCL7B
AlphaFold pdb e-kbQ9BQE9   
Human Protein Atlas [tissue]ENSG00000106635-BCL7B [tissue]
Protein Interaction databases
IntAct (EBI)Q9BQE9
Complex Portal (EBI)Q9BQE9 CPX-1195 Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex
Q9BQE9 CPX-4084 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA2 variant
Q9BQE9 CPX-4223 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant
Q9BQE9 CPX-4224 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant
Q9BQE9 CPX-4225 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant
Q9BQE9 CPX-4226 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant
Q9BQE9 CPX-4203 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA2 variant
Q9BQE9 CPX-4206 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA4 variant
Q9BQE9 CPX-4207 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA4 variant
Ontologies - Pathways
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
GeneTree (enSembl)ENSG00000106635
Phylogenetic Trees/Animal Genes : TreeFamBCL7B
Homologs : HomoloGeneBCL7B
Homology/Alignments : Family Browser (UCSC)BCL7B
Gene fusions - Rearrangements
Fusion : MitelmanNSUN5::BCL7B [7q11.23/7q11.23]  
Fusion : QuiverBCL7B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCL7B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCL7B
Exome Variant ServerBCL7B
GNOMAD BrowserENSG00000106635
Varsome BrowserBCL7B
ACMGBCL7B variants
Genomic Variants (DGV)BCL7B [DGVbeta]
DECIPHERBCL7B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCL7B 
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]  
Somatic Mutations in Cancer : COSMIC3DBCL7B
Mutations and Diseases : HGMDBCL7B
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)BCL7B
DoCM (Curated mutations)BCL7B
CIViC (Clinical Interpretations of Variants in Cancer)BCL7B
NCG (London)BCL7B
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry BCL7B
NextProtQ9BQE9 [Medical]
Target ValidationBCL7B
Huge Navigator BCL7B [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDBCL7B
Pharm GKB GenePA25315
Clinical trialBCL7B
DataMed IndexBCL7B
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:13:22 CEST 2021

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