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NBEAP1 (B-cell CLL/lymphoma 8)

Written2008-02Silvia Rasi, Gianluca Gaidano
Division of Hematology, Department of Clinical, Experimental Medicine, Center of Biotechnologies for Applied Medical Research, Amedeo Avogadro University of Eastern Piedmont, Via Solaroli 17, 28100 Novara, Italy

(Note : for Links provided by Atlas : click)

Identity

Alias_namesBCL8
B-cell CLL/lymphoma 8
Alias_symbol (synonym)BCL8A
HGNC (Hugo) NBEAP1
LocusID (NCBI) 606
Atlas_Id 781
Location 15q11.2  [Link to chromosome band 15q11]
Location_base_pair Starts at 20874797 and ends at 20961480 bp from pter ( according to hg19-Feb_2009)  [Mapping NBEAP1.png]
Fusion genes
(updated 2016)
IGH (14q32.33) / NBEAP1 (15q11.2)NBEAP1 (15q11.2) / ZNF321P (19q13.41)

DNA/RNA

 
Description Gene of 86686 bp with 3 exons(1bp-222bp/84886bp-85041bp/86517bp-86686bp). The 5' part of exon 1 and the 3' part of exon 3 are non coding.
Transcription Two alternative transcripts: a major transcript of 2.6Kb and a less expressed transcript of 4.5Kb, due to differential polyadenylation.
Coding sequence: CDS 208-510.
The direction of transcription is from telomere to centromere.
Pseudogene Identified a family of evolutionarily conserved human genes with extensive homology to BCL8; these genes are BCL8B (chr.13), BCL8C (chr.22), BCL8D (chr.2), and BCL8E (chr.10). BCL8B is the most complete gene, whereas the other genes are truncated, can yield only sterile transcripts, and thus are probably pseudogenes.

Protein

Description 100 amino acids, predicted molecular weight of 19 kDa; predicted: similar to protein neurobeachin (Lysosomal trafficking regulator 2).
Expression mRNA predominantly expressed in testis and prostate, with no transcripts normally found in hematopoietic tissues. Its expression in lymphoid tissues can be activated by chromosomal translocation or by other mechanisms in diffuse large B-cell lymphoma (DLBCL) patients. BCL8 expression was detected in all patients with 15q11-13 abnormalities and in a significant proportion of DLBCL patients.
Function Probably produced truncated polypeptides with uncertain function.
Homology Interspecies: homolog to N-terminal of Caenorhabditis elegans F10.f2.1(59% homology) and to N-terminal of Drosophila melanogaster protein kinase A (PKA) anchoring protein RG (67% homology).

Implicated in

Note
  
Entity t(14;15)(q32;q11) --> IghV - BCL8
Note Possibly other translocations of BCL8 involve other sites such as 22q11, 9p13, 1p32,7p13, 12q24, and 15q22.
Disease Translocations affecting BCL8 gene and various partners occur in about 4% of diffuse large B-cell lymphoma (DLBCL). Translocations involving the chromosomal region 15q11-13 have also been identified in non lymphoid tumors.
Prognosis The effect of BCL8 expression on the prognosis of patients has yet to be investigated.
Hybrid/Mutated Gene The chromosomal translocation does not led to the formation of a hybrid gene.
Oncogenesis Chromosomal translocation in DLBCL causes activation of the BCL8 proto-oncogene by deregulated expression of BCL8.
  

Breakpoints

 

Bibliography

BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function.
Dyomin VG, Chaganti SR, Dyomina K, Palanisamy N, Murty VV, Dalla-Favera R, Chaganti RS
Genomics. 2002 ; 80 (2) : 158-165.
PMID 12160729
 
BCL8, a novel gene involved in translocations affecting band 15q11-13 in diffuse large-cell lymphoma.
Dyomin VG, Rao PH, Dalla-Favera R, Chaganti RS
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (11) : 5728-5732.
PMID 9159141
 
Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.
Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, Chaganti RS, Christian SL, Ledbetter DH
Journal of medical genetics. 2002 ; 39 (3) : 170-177.
PMID 11897815
 
Non-Hodgkin's Lymphoma: Molecular Features of B Cell Lymphoma.
Macintyre E, Willerford D, Morris SW
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program. 2000 : 180-204.
PMID 11701542
 
Molecular heterogeneity of diffuse large B-cell lymphoma: implications for disease management and prognosis.
Rossi D, Gaidano G
Hematology (Amsterdam, Netherlands). 2002 ; 7 (4) : 239-252.
PMID 14972786
 

Citation

This paper should be referenced as such :
Rasi, S ; Gaidano, G
BCL8 (B-cell CLL/lymphoma 8)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):419-420.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/BCL8ID781ch15q11.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(14;15)(q32;q11) IGH/NBEAP1


External links

Nomenclature
HGNC (Hugo)NBEAP1   1007
Cards
AtlasBCL8ID781ch15q11
Entrez_Gene (NCBI)NBEAP1  606  neurobeachin pseudogene 1
AliasesBCL8; BCL8A
GeneCards (Weizmann)NBEAP1
Ensembl hg19 (Hinxton) [Gene_View]  chr15:20874797-20961480 [Contig_View]  NBEAP1 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr15:20874797-20961480 [Contig_View]  NBEAP1 [Vega]
TCGA cBioPortalNBEAP1
AceView (NCBI)NBEAP1
Genatlas (Paris)NBEAP1
WikiGenes606
SOURCE (Princeton)NBEAP1
Genetics Home Reference (NIH)NBEAP1
Genomic and cartography
GoldenPath hg19 (UCSC)NBEAP1  -     chr15:20874797-20961480 -  15q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NBEAP1  -     15q11.2   [Description]    (hg38-Dec_2013)
EnsemblNBEAP1 - 15q11.2 [CytoView hg19]  NBEAP1 - 15q11.2 [CytoView hg38]
Mapping of homologs : NCBINBEAP1 [Mapview hg19]  NBEAP1 [Mapview hg38]
OMIM601889   
Gene and transcription
Genbank (Entrez)AL832227 DA278599
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_008857 NG_025281 NT_037852 NW_004929394
Consensus coding sequences : CCDS (NCBI)NBEAP1
Cluster EST : UnigeneHs.657985 [ NCBI ]
CGAP (NCI)Hs.657985
Gene ExpressionNBEAP1 [ NCBI-GEO ]   NBEAP1 [ EBI - ARRAY_EXPRESS ]   NBEAP1 [ SEEK ]   NBEAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)NBEAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)606
GTEX Portal (Tissue expression)NBEAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0C6P0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0C6P0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0C6P0
Splice isoforms : SwissVarP0C6P0
PhosPhoSitePlusP0C6P0
Domains : Interpro (EBI)DUF4704   
Domain families : Pfam (Sanger)DUF4704 (PF15787)   
Domain families : Pfam (NCBI)pfam15787   
Conserved Domain (NCBI)NBEAP1
DMDM Disease mutations606
Blocks (Seattle)NBEAP1
SuperfamilyP0C6P0
Peptide AtlasP0C6P0
IPIIPI00748575   
Protein Interaction databases
DIP (DOE-UCLA)P0C6P0
IntAct (EBI)P0C6P0
BioGRIDNBEAP1
STRING (EMBL)NBEAP1
ZODIACNBEAP1
Ontologies - Pathways
QuickGOP0C6P0
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkNBEAP1
Atlas of Cancer Signalling NetworkNBEAP1
Wikipedia pathwaysNBEAP1
Orthology - Evolution
OrthoDB606
Phylogenetic Trees/Animal Genes : TreeFamNBEAP1
HOVERGENP0C6P0
HOGENOMP0C6P0
Homologs : HomoloGeneNBEAP1
Homology/Alignments : Family Browser (UCSC)NBEAP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNBEAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NBEAP1
dbVarNBEAP1
ClinVarNBEAP1
1000_GenomesNBEAP1 
Exome Variant ServerNBEAP1
ExAC (Exome Aggregation Consortium)NBEAP1 (select the gene name)
Genetic variants : HAPMAP606
Genomic Variants (DGV)NBEAP1 [DGVbeta]
DECIPHER (Syndromes)15:20874797-20961480  
CONAN: Copy Number AnalysisNBEAP1 
Mutations
ICGC Data PortalNBEAP1 
TCGA Data PortalNBEAP1 
Broad Tumor PortalNBEAP1
OASIS PortalNBEAP1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDNBEAP1
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 NBEAP1
DgiDB (Drug Gene Interaction Database)NBEAP1
DoCM (Curated mutations)NBEAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NBEAP1 (select a term)
intoGenNBEAP1
NCG5 (London)NBEAP1
Cancer3DNBEAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601889   
Orphanet
MedgenNBEAP1
Genetic Testing Registry NBEAP1
NextProtP0C6P0 [Medical]
TSGene606
GENETestsNBEAP1
Huge Navigator NBEAP1 [HugePedia]
snp3D : Map Gene to Disease606
BioCentury BCIQNBEAP1
ClinGenNBEAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD606
Chemical/Pharm GKB GenePA25317
Clinical trialNBEAP1
Miscellaneous
canSAR (ICR)NBEAP1 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNBEAP1
EVEXNBEAP1
GoPubMedNBEAP1
iHOPNBEAP1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Feb 2 13:57:30 CET 2017

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