Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PECAM1 (platelet and endothelial cell adhesion molecule 1)

Identity

Alias_namesplatelet/endothelial cell adhesion molecule 1
Alias_symbol (synonym)CD31
Other aliasCD31/EndoCAM
GPIIA'
PECA1
PECAM-1
endoCAM
HGNC (Hugo) PECAM1
LocusID (NCBI) 5175
Atlas_Id 41689
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 64319416 and ends at 64390878 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)
PEX10 (1p36.32) / PECAM1 (17q23.3)SRSF7 (2p22.1) / PECAM1 (17q23.3)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Bone: Epithelioid hemangioendothelioma

External links

Nomenclature
HGNC (Hugo)PECAM1   8823
Cards
Entrez_Gene (NCBI)PECAM1  5175  platelet and endothelial cell adhesion molecule 1
AliasesCD31; CD31/EndoCAM; GPIIA'; PECA1; 
PECAM-1; endoCAM
GeneCards (Weizmann)PECAM1
Ensembl hg19 (Hinxton)ENSG00000261371 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000261371 [Gene_View]ENSG00000261371 [Sequence]  chr17:64319416-64390878 [Contig_View]  PECAM1 [Vega]
ICGC DataPortalENSG00000261371
TCGA cBioPortalPECAM1
AceView (NCBI)PECAM1
Genatlas (Paris)PECAM1
WikiGenes5175
SOURCE (Princeton)PECAM1
Genetics Home Reference (NIH)PECAM1
Genomic and cartography
GoldenPath hg38 (UCSC)PECAM1  -     chr17:64319416-64390878 -  17q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PECAM1  -     17q23.3   [Description]    (hg19-Feb_2009)
EnsemblPECAM1 - 17q23.3 [CytoView hg19]  PECAM1 - 17q23.3 [CytoView hg38]
Mapping of homologs : NCBIPECAM1 [Mapview hg19]  PECAM1 [Mapview hg38]
OMIM173445   
Gene and transcription
Genbank (Entrez)AF281287 AF281288 AF281289 AF281290 AF281291
RefSeq transcript (Entrez)NM_000442
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PECAM1
Cluster EST : UnigeneHs.722648 [ NCBI ]
CGAP (NCI)Hs.722648
Alternative Splicing GalleryENSG00000261371
Gene ExpressionPECAM1 [ NCBI-GEO ]   PECAM1 [ EBI - ARRAY_EXPRESS ]   PECAM1 [ SEEK ]   PECAM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PECAM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5175
GTEX Portal (Tissue expression)PECAM1
Human Protein AtlasENSG00000261371-PECAM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16284   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16284  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16284
Splice isoforms : SwissVarP16284
PhosPhoSitePlusP16284
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)Ig_2 (PF13895)   
Domain families : Pfam (NCBI)pfam13895   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)PECAM1
DMDM Disease mutations5175
Blocks (Seattle)PECAM1
PDB (SRS)2KY5    5C14    5GNI   
PDB (PDBSum)2KY5    5C14    5GNI   
PDB (IMB)2KY5    5C14    5GNI   
PDB (RSDB)2KY5    5C14    5GNI   
Structural Biology KnowledgeBase2KY5    5C14    5GNI   
SCOP (Structural Classification of Proteins)2KY5    5C14    5GNI   
CATH (Classification of proteins structures)2KY5    5C14    5GNI   
SuperfamilyP16284
Human Protein Atlas [tissue]ENSG00000261371-PECAM1 [tissue]
Peptide AtlasP16284
HPRD01425
IPIIPI00295618   IPI00470719   IPI00470720   IPI00914041   IPI01010172   IPI00871352   
Protein Interaction databases
DIP (DOE-UCLA)P16284
IntAct (EBI)P16284
FunCoupENSG00000261371
BioGRIDPECAM1
STRING (EMBL)PECAM1
ZODIACPECAM1
Ontologies - Pathways
QuickGOP16284
Ontology : AmiGOplatelet degranulation  protein binding  extracellular space  plasma membrane  plasma membrane  phagocytosis  homophilic cell adhesion via plasma membrane adhesion molecules  leukocyte cell-cell adhesion  signal transduction  cell recognition  integral component of membrane  cell junction  extracellular matrix organization  secretory granule membrane  platelet alpha granule membrane  protein homodimerization activity  neutrophil degranulation  membrane raft  leukocyte migration  diapedesis  extracellular exosome  glomerular endothelium development  neutrophil extravasation  cell-cell adhesion via plasma-membrane adhesion molecules  
Ontology : EGO-EBIplatelet degranulation  protein binding  extracellular space  plasma membrane  plasma membrane  phagocytosis  homophilic cell adhesion via plasma membrane adhesion molecules  leukocyte cell-cell adhesion  signal transduction  cell recognition  integral component of membrane  cell junction  extracellular matrix organization  secretory granule membrane  platelet alpha granule membrane  protein homodimerization activity  neutrophil degranulation  membrane raft  leukocyte migration  diapedesis  extracellular exosome  glomerular endothelium development  neutrophil extravasation  cell-cell adhesion via plasma-membrane adhesion molecules  
Pathways : BIOCARTANeutrophil and Its Surface Molecules [Genes]    Adhesion and Diapedesis of Granulocytes [Genes]    Adhesion Molecules on Lymphocyte [Genes]    Monocyte and its Surface Molecules [Genes]    Adhesion and Diapedesis of Lymphocytes [Genes]    Cell to Cell Adhesion Signaling [Genes]   
Pathways : KEGGLeukocyte transendothelial migration    Cell adhesion molecules (CAMs)   
NDEx NetworkPECAM1
Atlas of Cancer Signalling NetworkPECAM1
Wikipedia pathwaysPECAM1
Orthology - Evolution
OrthoDB5175
GeneTree (enSembl)ENSG00000261371
Phylogenetic Trees/Animal Genes : TreeFamPECAM1
HOVERGENP16284
HOGENOMP16284
Homologs : HomoloGenePECAM1
Homology/Alignments : Family Browser (UCSC)PECAM1
Gene fusions - Rearrangements
Fusion Cancer (Beijing)PEX10 [1p36.32]  -  PECAM1 [17q23.3]  [FUSC000148]  [FUSC000148]  [FUSC000148]
Fusion : QuiverPECAM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPECAM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PECAM1
dbVarPECAM1
ClinVarPECAM1
1000_GenomesPECAM1 
Exome Variant ServerPECAM1
ExAC (Exome Aggregation Consortium)ENSG00000261371
GNOMAD BrowserENSG00000261371
Genetic variants : HAPMAP5175
Genomic Variants (DGV)PECAM1 [DGVbeta]
DECIPHERPECAM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPECAM1 
Mutations
ICGC Data PortalPECAM1 
TCGA Data PortalPECAM1 
Broad Tumor PortalPECAM1
OASIS PortalPECAM1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDPECAM1
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 PECAM1
DgiDB (Drug Gene Interaction Database)PECAM1
DoCM (Curated mutations)PECAM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PECAM1 (select a term)
intoGenPECAM1
Cancer3DPECAM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM173445   
Orphanet
DisGeNETPECAM1
MedgenPECAM1
Genetic Testing Registry PECAM1
NextProtP16284 [Medical]
TSGene5175
GENETestsPECAM1
Target ValidationPECAM1
Huge Navigator PECAM1 [HugePedia]
snp3D : Map Gene to Disease5175
BioCentury BCIQPECAM1
ClinGenPECAM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5175
Chemical/Pharm GKB GenePA33167
Clinical trialPECAM1
Miscellaneous
canSAR (ICR)PECAM1 (select the gene name)
Probes
Litterature
PubMed284 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePECAM1
EVEXPECAM1
GoPubMedPECAM1
iHOPPECAM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jun 21 17:07:40 CEST 2018
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