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BCAS4 (breast carcinoma amplified sequence 4)

Written2004-05Jean-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 namesBHLHB4
FLJ20495
HGNC (Hugo) BCAS4
LocusID (NCBI) 55653
Atlas_Id 767
Location 20q13.13  [Link to chromosome band 20q13]
Location_base_pair Starts at 49411431 and ends at 49493714 bp from pter ( according to hg19-Feb_2009)  [Mapping BCAS4.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
BAIAP2L1 (7q21.3) / BCAS4 (20q13.13)BCAS4 (20q13.13) / ADNP (20q13.13)BCAS4 (20q13.13) / AURKA (20q13.2)
BCAS4 (20q13.13) / BCAS3 (17q23.2)BCAS4 (20q13.13) / PTPN1 (20q13.13)BCAS4 (20q13.13) / ZMYND8 (20q13.12)
ZNRF1 (16q23.1) / BCAS4 (20q13.13)

DNA/RNA

Description spans 82 kb; orientation direct strand; 19 exons
Transcription alternate splicings

Protein

Expression ubiquitous
Localisation cytoplasmic

Implicated in

Note
Entity BCAS4 is overexpressed in 3.5% of breast cancers, and a hybrid gene BCAS4-BCAS3 was found in breat cancer cell line with a t(17;20)(q23;q13)
Hybrid/Mutated Gene 5' BCAS4 is fused to the 2 last exons (23 and 24) of BCAS3; transcript includes exon 1 from BCAS4 and 21 bp from BCAS3 exon 23; it encodes a 66 aminoacids protein; no reciprocal transcript
  

Bibliography

p73 Induces apoptosis via PUMA transactivation and Bax mitochondrial translocation.
Melino G, Bernassola F, Ranalli M, Yee K, Zong WX, Corazzari M, Knight RA, Green DR, Thompson C, Vousden KH
The Journal of biological chemistry. 2004 ; 279 (9) : 8076-8083.
PMID 14634023
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
BCAS4 (breast carcinoma amplified sequence 4)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(3):189-189.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/BCAS4ID767.html


External links

Nomenclature
HGNC (Hugo)BCAS4   14367
Cards
AtlasBCAS4ID767
Entrez_Gene (NCBI)BCAS4  55653  breast carcinoma amplified sequence 4
AliasesCNOL
GeneCards (Weizmann)BCAS4
Ensembl hg19 (Hinxton)ENSG00000124243 [Gene_View]  chr20:49411431-49493714 [Contig_View]  BCAS4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000124243 [Gene_View]  chr20:49411431-49493714 [Contig_View]  BCAS4 [Vega]
ICGC DataPortalENSG00000124243
TCGA cBioPortalBCAS4
AceView (NCBI)BCAS4
Genatlas (Paris)BCAS4
WikiGenes55653
SOURCE (Princeton)BCAS4
Genomic and cartography
GoldenPath hg19 (UCSC)BCAS4  -     chr20:49411431-49493714 +  20q13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BCAS4  -     20q13   [Description]    (hg38-Dec_2013)
EnsemblBCAS4 - 20q13 [CytoView hg19]  BCAS4 - 20q13 [CytoView hg38]
Mapping of homologs : NCBIBCAS4 [Mapview hg19]  BCAS4 [Mapview hg38]
OMIM607471   
Gene and transcription
Genbank (Entrez)AF361220 AJ511266 AK000502 BC038381 BC047337
RefSeq transcript (Entrez)NM_001010974 NM_017843 NM_198799
RefSeq genomic (Entrez)NC_000020 NC_018931 NT_011362 NW_004929418
Consensus coding sequences : CCDS (NCBI)BCAS4
Cluster EST : UnigeneHs.381178 [ NCBI ]
CGAP (NCI)Hs.381178
Alternative Splicing GalleryENSG00000124243
Gene ExpressionBCAS4 [ NCBI-GEO ]   BCAS4 [ EBI - ARRAY_EXPRESS ]   BCAS4 [ SEEK ]   BCAS4 [ MEM ]
Gene Expression Viewer (FireBrowse)BCAS4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55653
GTEX Portal (Tissue expression)BCAS4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDM0 (Uniprot)
NextProtQ8TDM0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDM0
Splice isoforms : SwissVarQ8TDM0 (Swissvar)
PhosPhoSitePlusQ8TDM0
Domains : Interpro (EBI)Cappuccino   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations55653
Blocks (Seattle)BCAS4
SuperfamilyQ8TDM0
Human Protein AtlasENSG00000124243
Peptide AtlasQ8TDM0
HPRD06314
IPIIPI00333686   IPI00394798   IPI00872439   IPI00333687   IPI00945796   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDM0
IntAct (EBI)Q8TDM0
FunCoupENSG00000124243
BioGRIDBCAS4
STRING (EMBL)BCAS4
ZODIACBCAS4
Ontologies - Pathways
QuickGOQ8TDM0
Ontology : AmiGOBLOC-1 complex  intracellular transport  
Ontology : EGO-EBIBLOC-1 complex  intracellular transport  
NDEx NetworkBCAS4
Atlas of Cancer Signalling NetworkBCAS4
Wikipedia pathwaysBCAS4
Orthology - Evolution
OrthoDB55653
GeneTree (enSembl)ENSG00000124243
Phylogenetic Trees/Animal Genes : TreeFamBCAS4
Homologs : HomoloGeneBCAS4
Homology/Alignments : Family Browser (UCSC)BCAS4
Gene fusions - Rearrangements
Fusion : MitelmanBCAS4/AURKA [20q13.13/20q13.2]  
Fusion : MitelmanBCAS4/BCAS3 [20q13.13/17q23.2]  [t(17;20)(q23;q13)]  
Fusion : MitelmanBCAS4/PTPN1 [20q13.13/20q13.13]  [t(20;20)(q13;q13)]  
Fusion : MitelmanBCAS4/ZMYND8 [20q13.13/20q13.12]  [t(20;20)(q13;q13)]  
Fusion : MitelmanZNRF1/BCAS4 [16q23.1/20q13.13]  [t(16;20)(q23;q13)]  
Fusion: TCGABCAS4 20q13.13 PTPN1 20q13.13 BRCA
Fusion: TCGAZNRF1 16q23.1 BCAS4 20q13.13 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerBCAS4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCAS4
dbVarBCAS4
ClinVarBCAS4
1000_GenomesBCAS4 
Exome Variant ServerBCAS4
ExAC (Exome Aggregation Consortium)BCAS4 (select the gene name)
Genetic variants : HAPMAP55653
Genomic Variants (DGV)BCAS4 [DGVbeta]
Mutations
ICGC Data PortalBCAS4 
TCGA Data PortalBCAS4 
Broad Tumor PortalBCAS4
OASIS PortalBCAS4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCAS4 
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 BCAS4
DgiDB (Drug Gene Interaction Database)BCAS4
DoCM (Curated mutations)BCAS4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCAS4 (select a term)
intoGenBCAS4
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)20:49411431-49493714  ENSG00000124243
CONAN: Copy Number AnalysisBCAS4 
Mutations and Diseases : HGMDBCAS4
OMIM607471   
MedgenBCAS4
Genetic Testing Registry BCAS4
NextProtQ8TDM0 [Medical]
TSGene55653
GENETestsBCAS4
Huge Navigator BCAS4 [HugePedia]
snp3D : Map Gene to Disease55653
BioCentury BCIQBCAS4
ClinGenBCAS4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55653
Chemical/Pharm GKB GenePA25287
Clinical trialBCAS4
Miscellaneous
canSAR (ICR)BCAS4 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCAS4
EVEXBCAS4
GoPubMedBCAS4
iHOPBCAS4
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Sep 28 16:03:54 CEST 2016

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