Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BVES (blood vessel epicardial substance)

Identity

Alias_symbol (synonym)HBVES
POP1
POPDC1
Other aliasCARICK
LGMD2X
HGNC (Hugo) BVES
LocusID (NCBI) 11149
Atlas_Id 50223
Location 6q21  [Link to chromosome band 6q21]
Location_base_pair Starts at 105096824 and ends at 105136346 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BVES (6q21) / CIDEC (3p25.3)BVES (6q21) / LMTK2 (7q21.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)BVES   1152
Cards
Entrez_Gene (NCBI)BVES  11149  blood vessel epicardial substance
AliasesCARICK; HBVES; LGMD2X; POP1; 
POPDC1
GeneCards (Weizmann)BVES
Ensembl hg19 (Hinxton)ENSG00000112276 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112276 [Gene_View]  ENSG00000112276 [Sequence]  chr6:105096824-105136346 [Contig_View]  BVES [Vega]
ICGC DataPortalENSG00000112276
TCGA cBioPortalBVES
AceView (NCBI)BVES
Genatlas (Paris)BVES
WikiGenes11149
SOURCE (Princeton)BVES
Genetics Home Reference (NIH)BVES
Genomic and cartography
GoldenPath hg38 (UCSC)BVES  -     chr6:105096824-105136346 -  6q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BVES  -     6q21   [Description]    (hg19-Feb_2009)
EnsemblBVES - 6q21 [CytoView hg19]  BVES - 6q21 [CytoView hg38]
Mapping of homologs : NCBIBVES [Mapview hg19]  BVES [Mapview hg38]
OMIM604577   616812   
Gene and transcription
Genbank (Entrez)AF204172 AK289979 BC034425 BC040502
RefSeq transcript (Entrez)NM_001199563 NM_007073 NM_147147
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BVES
Cluster EST : UnigeneHs.221660 [ NCBI ]
CGAP (NCI)Hs.221660
Alternative Splicing GalleryENSG00000112276
Gene ExpressionBVES [ NCBI-GEO ]   BVES [ EBI - ARRAY_EXPRESS ]   BVES [ SEEK ]   BVES [ MEM ]
Gene Expression Viewer (FireBrowse)BVES [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11149
GTEX Portal (Tissue expression)BVES
Human Protein AtlasENSG00000112276-BVES [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NE79   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NE79  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NE79
Splice isoforms : SwissVarQ8NE79
PhosPhoSitePlusQ8NE79
Domains : Interpro (EBI)cNMP-bd-like    Popeye_prot    RmlC-like_jellyroll   
Domain families : Pfam (Sanger)Popeye (PF04831)   
Domain families : Pfam (NCBI)pfam04831   
Conserved Domain (NCBI)BVES
DMDM Disease mutations11149
Blocks (Seattle)BVES
SuperfamilyQ8NE79
Human Protein Atlas [tissue]ENSG00000112276-BVES [tissue]
Peptide AtlasQ8NE79
HPRD06842
IPIIPI00168616   
Protein Interaction databases
DIP (DOE-UCLA)Q8NE79
IntAct (EBI)Q8NE79
FunCoupENSG00000112276
BioGRIDBVES
STRING (EMBL)BVES
ZODIACBVES
Ontologies - Pathways
QuickGOQ8NE79
Ontology : AmiGOpositive regulation of receptor recycling  regulation of heart rate  hematopoietic progenitor cell differentiation  response to ischemia  structural molecule activity  protein binding  plasma membrane  plasma membrane  caveola  bicellular tight junction  heart development  heart development  muscle organ development  skeletal muscle tissue development  skeletal muscle tissue development  regulation of cell shape  membrane  integral component of membrane  integral component of membrane  vesicle-mediated transport  lateral plasma membrane  cell junction  cAMP binding  cell projection membrane  substrate adhesion-dependent cell spreading  positive regulation of locomotion  sarcolemma  sarcolemma  regulation of membrane potential  regulation of GTPase activity  vesicle docking  sinoatrial node cell development  cell migration involved in heart development  epithelial cell-cell adhesion  regulation of endocytic recycling  
Ontology : EGO-EBIpositive regulation of receptor recycling  regulation of heart rate  hematopoietic progenitor cell differentiation  response to ischemia  structural molecule activity  protein binding  plasma membrane  plasma membrane  caveola  bicellular tight junction  heart development  heart development  muscle organ development  skeletal muscle tissue development  skeletal muscle tissue development  regulation of cell shape  membrane  integral component of membrane  integral component of membrane  vesicle-mediated transport  lateral plasma membrane  cell junction  cAMP binding  cell projection membrane  substrate adhesion-dependent cell spreading  positive regulation of locomotion  sarcolemma  sarcolemma  regulation of membrane potential  regulation of GTPase activity  vesicle docking  sinoatrial node cell development  cell migration involved in heart development  epithelial cell-cell adhesion  regulation of endocytic recycling  
NDEx NetworkBVES
Atlas of Cancer Signalling NetworkBVES
Wikipedia pathwaysBVES
Orthology - Evolution
OrthoDB11149
GeneTree (enSembl)ENSG00000112276
Phylogenetic Trees/Animal Genes : TreeFamBVES
HOVERGENQ8NE79
HOGENOMQ8NE79
Homologs : HomoloGeneBVES
Homology/Alignments : Family Browser (UCSC)BVES
Gene fusions - Rearrangements
Fusion : QuiverBVES
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBVES [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BVES
dbVarBVES
ClinVarBVES
1000_GenomesBVES 
Exome Variant ServerBVES
ExAC (Exome Aggregation Consortium)ENSG00000112276
GNOMAD BrowserENSG00000112276
Varsome BrowserBVES
Genetic variants : HAPMAP11149
Genomic Variants (DGV)BVES [DGVbeta]
DECIPHERBVES [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBVES 
Mutations
ICGC Data PortalBVES 
TCGA Data PortalBVES 
Broad Tumor PortalBVES
OASIS PortalBVES [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBVES  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBVES
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 BVES
DgiDB (Drug Gene Interaction Database)BVES
DoCM (Curated mutations)BVES (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BVES (select a term)
intoGenBVES
Cancer3DBVES(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604577    616812   
Orphanet
DisGeNETBVES
MedgenBVES
Genetic Testing Registry BVES
NextProtQ8NE79 [Medical]
TSGene11149
GENETestsBVES
Target ValidationBVES
Huge Navigator BVES [HugePedia]
snp3D : Map Gene to Disease11149
BioCentury BCIQBVES
ClinGenBVES
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11149
Chemical/Pharm GKB GenePA25469
Clinical trialBVES
Miscellaneous
canSAR (ICR)BVES (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBVES
EVEXBVES
GoPubMedBVES
iHOPBVES
Genes in titleautomatic search in PubMed
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 : Tue Nov 6 10:54:42 CET 2018

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