Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PECAM1 (platelet and endothelial cell adhesion molecule 1)

Identity

Other namesCD31
CD31/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 62396777 and ends at 62407083 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)		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) [ 0 ]
  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]  chr17:62396777-62407083 [Contig_View]  PECAM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000261371 [Gene_View]  chr17:62396777-62407083 [Contig_View]  PECAM1 [Vega]
ICGC DataPortalENSG00000261371
TCGA cBioPortalPECAM1
AceView (NCBI)PECAM1
Genatlas (Paris)PECAM1
WikiGenes5175
SOURCE (Princeton)PECAM1
Genomic and cartography
GoldenPath hg19 (UCSC)PECAM1  -     chr17:62396777-62407083 -  17q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PECAM1  -     17q23.3   [Description]    (hg38-Dec_2013)
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)NC_000017 NC_018928 NT_010783 NW_004929407
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5175
GTEX Portal (Tissue expression)PECAM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16284 (Uniprot)
NextProtP16284  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16284
Splice isoforms : SwissVarP16284 (Swissvar)
PhosPhoSitePlusP16284
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_sub   
Domain families : Pfam (Sanger)Ig_2 (PF13895)   
Domain families : Pfam (NCBI)pfam13895   
Domain families : Smart (EMBL)IG (SM00409)  
DMDM Disease mutations5175
Blocks (Seattle)PECAM1
PDB (SRS)2KY5    5C14   
PDB (PDBSum)2KY5    5C14   
PDB (IMB)2KY5    5C14   
PDB (RSDB)2KY5    5C14   
Structural Biology KnowledgeBase2KY5    5C14   
SCOP (Structural Classification of Proteins)2KY5    5C14   
CATH (Classification of proteins structures)2KY5    5C14   
SuperfamilyP16284
Human Protein AtlasENSG00000261371
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  cell adhesion  signal transduction  cell recognition  integral component of membrane  cell junction  extracellular matrix organization  platelet alpha granule membrane  membrane raft  leukocyte migration  diapedesis  extracellular exosome  glomerular endothelium development  
Ontology : EGO-EBIplatelet degranulation  protein binding  extracellular space  plasma membrane  plasma membrane  phagocytosis  cell adhesion  signal transduction  cell recognition  integral component of membrane  cell junction  extracellular matrix organization  platelet alpha granule membrane  membrane raft  leukocyte migration  diapedesis  extracellular exosome  glomerular endothelium development  
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 : KEGGCell adhesion molecules (CAMs)    Leukocyte transendothelial migration    Malaria   
NDEx NetworkPECAM1
Atlas of Cancer Signalling NetworkPECAM1
Wikipedia pathwaysPECAM1
Orthology - Evolution
OrthoDB5175
GeneTree (enSembl)ENSG00000261371
Phylogenetic Trees/Animal Genes : TreeFamPECAM1
Homologs : HomoloGenePECAM1
Homology/Alignments : Family Browser (UCSC)PECAM1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPECAM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PECAM1
dbVarPECAM1
ClinVarPECAM1
1000_GenomesPECAM1 
Exome Variant ServerPECAM1
ExAC (Exome Aggregation Consortium)PECAM1 (select the gene name)
Genetic variants : HAPMAP5175
Genomic Variants (DGV)PECAM1 [DGVbeta]
Mutations
ICGC Data PortalPECAM1 
TCGA Data PortalPECAM1 
Broad Tumor PortalPECAM1
OASIS PortalPECAM1 [ Somatic mutations - Copy number]
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:62396777-62407083  ENSG00000261371
CONAN: Copy Number AnalysisPECAM1 
Mutations and Diseases : HGMDPECAM1
OMIM173445   
MedgenPECAM1
Genetic Testing Registry PECAM1
NextProtP16284 [Medical]
TSGene5175
GENETestsPECAM1
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
PubMed257 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

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 19:06:42 CEST 2016
Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.