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PLVAP (plasmalemma vesicle associated protein)

Identity

Alias_symbol (synonym)gp68
PV-1
PV1
FELS
Other aliasDIAR10
HGNC (Hugo) PLVAP
LocusID (NCBI) 83483
Atlas_Id 46160
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 17351448 and ends at 17377349 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)
MARCH2 (19p13.2) / PLVAP (19p13.11)PLVAP (19p13.11) / ABCF1 (6p21.33)PLVAP (19p13.11) / FOXP1 (3p13)
MARCH2 19p13.2 / PLVAP 19p13.11PLVAP 19p13.11 / ABCF1 6p21.33PLVAP 19p13.11 / FOXP1 3p13

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(3;19)(p13;p13) PLVAP/FOXP1
t(6;19)(p21;p13) PLVAP/ABCF1
MARCH2/PLVAP (19p13)
RAB8A/PLVAP (19p13)


External links

Nomenclature
HGNC (Hugo)PLVAP   13635
Cards
Entrez_Gene (NCBI)PLVAP  83483  plasmalemma vesicle associated protein
AliasesDIAR10; FELS; PV-1; PV1; 
gp68
GeneCards (Weizmann)PLVAP
Ensembl hg19 (Hinxton)ENSG00000130300 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130300 [Gene_View]  ENSG00000130300 [Sequence]  chr19:17351448-17377349 [Contig_View]  PLVAP [Vega]
ICGC DataPortalENSG00000130300
TCGA cBioPortalPLVAP
AceView (NCBI)PLVAP
Genatlas (Paris)PLVAP
WikiGenes83483
SOURCE (Princeton)PLVAP
Genetics Home Reference (NIH)PLVAP
Genomic and cartography
GoldenPath hg38 (UCSC)PLVAP  -     chr19:17351448-17377349 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLVAP  -     19p13.11   [Description]    (hg19-Feb_2009)
GoldenPathPLVAP - 19p13.11 [CytoView hg19]  PLVAP - 19p13.11 [CytoView hg38]
ImmunoBaseENSG00000130300
Mapping of homologs : NCBIPLVAP [Mapview hg19]  PLVAP [Mapview hg38]
OMIM607647   618183   
Gene and transcription
Genbank (Entrez)AF326591 AF348827 AK074054 AK096030 AK313837
RefSeq transcript (Entrez)NM_031310
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLVAP
Cluster EST : UnigeneHs.107125 [ NCBI ]
CGAP (NCI)Hs.107125
Alternative Splicing GalleryENSG00000130300
Gene ExpressionPLVAP [ NCBI-GEO ]   PLVAP [ EBI - ARRAY_EXPRESS ]   PLVAP [ SEEK ]   PLVAP [ MEM ]
Gene Expression Viewer (FireBrowse)PLVAP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83483
GTEX Portal (Tissue expression)PLVAP
Human Protein AtlasENSG00000130300-PLVAP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BX97   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BX97  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BX97
Splice isoforms : SwissVarQ9BX97
PhosPhoSitePlusQ9BX97
Domains : Interpro (EBI)PV-1   
Domain families : Pfam (Sanger)PV-1 (PF06637)   
Domain families : Pfam (NCBI)pfam06637   
Conserved Domain (NCBI)PLVAP
DMDM Disease mutations83483
Blocks (Seattle)PLVAP
SuperfamilyQ9BX97
Human Protein Atlas [tissue]ENSG00000130300-PLVAP [tissue]
Peptide AtlasQ9BX97
HPRD09626
IPIIPI00171516   
Protein Interaction databases
DIP (DOE-UCLA)Q9BX97
IntAct (EBI)Q9BX97
FunCoupENSG00000130300
BioGRIDPLVAP
STRING (EMBL)PLVAP
ZODIACPLVAP
Ontologies - Pathways
QuickGOQ9BX97
Ontology : AmiGOMAPK cascade  positive regulation of cellular extravasation  protein binding  caveola  caveola  cell surface  integral component of membrane  developmental process  tumor necrosis factor-mediated signaling pathway  protein homodimerization activity  perinuclear region of cytoplasm  extracellular exosome  protein kinase C signaling  
Ontology : EGO-EBIMAPK cascade  positive regulation of cellular extravasation  protein binding  caveola  caveola  cell surface  integral component of membrane  developmental process  tumor necrosis factor-mediated signaling pathway  protein homodimerization activity  perinuclear region of cytoplasm  extracellular exosome  protein kinase C signaling  
NDEx NetworkPLVAP
Atlas of Cancer Signalling NetworkPLVAP
Wikipedia pathwaysPLVAP
Orthology - Evolution
OrthoDB83483
GeneTree (enSembl)ENSG00000130300
Phylogenetic Trees/Animal Genes : TreeFamPLVAP
HOGENOMQ9BX97
Homologs : HomoloGenePLVAP
Homology/Alignments : Family Browser (UCSC)PLVAP
Gene fusions - Rearrangements
Fusion : MitelmanMARCH2/PLVAP [19p13.2/19p13.11]  [t(19;19)(p13;p13)]  
Fusion : MitelmanPLVAP/ABCF1 [19p13.11/6p21.33]  [t(6;19)(p21;p13)]  
Fusion : MitelmanPLVAP/FOXP1 [19p13.11/3p13]  [t(3;19)(p13;p13)]  
Fusion PortalMARCH2 19p13.2 PLVAP 19p13.11 BRCA
Fusion PortalPLVAP 19p13.11 ABCF1 6p21.33 THCA
Fusion PortalPLVAP 19p13.11 FOXP1 3p13 THCA
Fusion : QuiverPLVAP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLVAP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLVAP
dbVarPLVAP
ClinVarPLVAP
1000_GenomesPLVAP 
Exome Variant ServerPLVAP
ExAC (Exome Aggregation Consortium)ENSG00000130300
GNOMAD BrowserENSG00000130300
Varsome BrowserPLVAP
Genetic variants : HAPMAP83483
Genomic Variants (DGV)PLVAP [DGVbeta]
DECIPHERPLVAP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLVAP 
Mutations
ICGC Data PortalPLVAP 
TCGA Data PortalPLVAP 
Broad Tumor PortalPLVAP
OASIS PortalPLVAP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLVAP  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPLVAP
Mutations and Diseases : HGMDPLVAP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PLVAP
DgiDB (Drug Gene Interaction Database)PLVAP
DoCM (Curated mutations)PLVAP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLVAP (select a term)
intoGenPLVAP
Cancer3DPLVAP(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607647    618183   
Orphanet
DisGeNETPLVAP
MedgenPLVAP
Genetic Testing Registry PLVAP
NextProtQ9BX97 [Medical]
TSGene83483
GENETestsPLVAP
Target ValidationPLVAP
Huge Navigator PLVAP [HugePedia]
snp3D : Map Gene to Disease83483
BioCentury BCIQPLVAP
ClinGenPLVAP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83483
Chemical/Pharm GKB GenePA33424
Clinical trialPLVAP
Miscellaneous
canSAR (ICR)PLVAP (select the gene name)
DataMed IndexPLVAP
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLVAP
EVEXPLVAP
GoPubMedPLVAP
iHOPPLVAP
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 : Wed Nov 13 18:01:24 CET 2019

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