Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PTAFR (platelet activating factor receptor)

Identity

Other aliasPAFR
HGNC (Hugo) PTAFR
LocusID (NCBI) 5724
Atlas_Id 43861
Location 1p35.3  [Link to chromosome band 1p35]
Location_base_pair Starts at 28473677 and ends at 28503455 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EXOC4 (7q33) / PTAFR (1p35.3)EXOC4 7q33 / PTAFR 1p35.3

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)PTAFR   9582
Cards
Entrez_Gene (NCBI)PTAFR  5724  platelet activating factor receptor
AliasesPAFR
GeneCards (Weizmann)PTAFR
Ensembl hg19 (Hinxton)ENSG00000169403 [Gene_View]  chr1:28473677-28503455 [Contig_View]  PTAFR [Vega]
Ensembl hg38 (Hinxton)ENSG00000169403 [Gene_View]  chr1:28473677-28503455 [Contig_View]  PTAFR [Vega]
ICGC DataPortalENSG00000169403
TCGA cBioPortalPTAFR
AceView (NCBI)PTAFR
Genatlas (Paris)PTAFR
WikiGenes5724
SOURCE (Princeton)PTAFR
Genetics Home Reference (NIH)PTAFR
Genomic and cartography
GoldenPath hg19 (UCSC)PTAFR  -     chr1:28473677-28503455 -  1p35.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PTAFR  -     1p35.3   [Description]    (hg38-Dec_2013)
EnsemblPTAFR - 1p35.3 [CytoView hg19]  PTAFR - 1p35.3 [CytoView hg38]
Mapping of homologs : NCBIPTAFR [Mapview hg19]  PTAFR [Mapview hg38]
OMIM173393   
Gene and transcription
Genbank (Entrez)AK290240 AK292053 AK313174 AY275466 BC013816
RefSeq transcript (Entrez)NM_000952 NM_001164721 NM_001164722 NM_001164723
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_029815 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)PTAFR
Cluster EST : UnigeneHs.77542 [ NCBI ]
CGAP (NCI)Hs.77542
Alternative Splicing GalleryENSG00000169403
Gene ExpressionPTAFR [ NCBI-GEO ]   PTAFR [ EBI - ARRAY_EXPRESS ]   PTAFR [ SEEK ]   PTAFR [ MEM ]
Gene Expression Viewer (FireBrowse)PTAFR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5724
GTEX Portal (Tissue expression)PTAFR
Protein : pattern, domain, 3D structure
UniProt/SwissProtP25105   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP25105  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP25105
Splice isoforms : SwissVarP25105
PhosPhoSitePlusP25105
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domains : Interpro (EBI)GPCR_Rhodpsn    GPCR_Rhodpsn_7TM    PAF_rcpt   
Domain families : Pfam (Sanger)7tm_1 (PF00001)   
Domain families : Pfam (NCBI)pfam00001   
Conserved Domain (NCBI)PTAFR
DMDM Disease mutations5724
Blocks (Seattle)PTAFR
PDB (SRS)2B0X   
PDB (PDBSum)2B0X   
PDB (IMB)2B0X   
PDB (RSDB)2B0X   
Structural Biology KnowledgeBase2B0X   
SCOP (Structural Classification of Proteins)2B0X   
CATH (Classification of proteins structures)2B0X   
SuperfamilyP25105
Human Protein AtlasENSG00000169403
Peptide AtlasP25105
HPRD01422
IPIIPI00012730   
Protein Interaction databases
DIP (DOE-UCLA)P25105
IntAct (EBI)P25105
FunCoupENSG00000169403
BioGRIDPTAFR
STRING (EMBL)PTAFR
ZODIACPTAFR
Ontologies - Pathways
QuickGOP25105
Ontology : AmiGOlipopolysaccharide binding  cytokine production  lipopolysaccharide receptor activity  G-protein coupled receptor activity  platelet activating factor receptor activity  phospholipid binding  nucleoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  regulation of transcription from RNA polymerase II promoter  chemotaxis  inflammatory response  immune response  G-protein coupled receptor signaling pathway  parturition  response to symbiotic bacterium  positive regulation of phospholipase C activity  membrane  integral component of membrane  lipopolysaccharide-mediated signaling pathway  positive regulation of tumor necrosis factor production  inositol trisphosphate biosynthetic process  G-protein coupled purinergic nucleotide receptor signaling pathway  intracellular membrane-bounded organelle  positive regulation of neutrophil degranulation  G-protein coupled purinergic nucleotide receptor activity  transcytosis  positive regulation of interleukin-6 biosynthetic process  positive regulation of translation  negative regulation of blood pressure  positive regulation of vasoconstriction  positive regulation of vasodilation  phosphatidylinositol-mediated signaling  positive regulation of smooth muscle cell proliferation  mitogen-activated protein kinase binding  interferon-gamma-mediated signaling pathway  positive regulation of inositol phosphate biosynthetic process  cellular response to gravity  cellular response to cAMP  cellular response to fatty acid  response to dexamethasone  positive regulation of voltage-gated chloride channel activity  positive regulation of leukocyte tethering or rolling  positive regulation of sensory perception of pain  positive regulation of transcytosis  positive regulation of maternal process involved in parturition  positive regulation of gastro-intestinal system smooth muscle contraction  cellular response to 2-O-acetyl-1-O-hexadecyl-sn-glycero-3-phosphocholine  
Ontology : EGO-EBIlipopolysaccharide binding  cytokine production  lipopolysaccharide receptor activity  G-protein coupled receptor activity  platelet activating factor receptor activity  phospholipid binding  nucleoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  regulation of transcription from RNA polymerase II promoter  chemotaxis  inflammatory response  immune response  G-protein coupled receptor signaling pathway  parturition  response to symbiotic bacterium  positive regulation of phospholipase C activity  membrane  integral component of membrane  lipopolysaccharide-mediated signaling pathway  positive regulation of tumor necrosis factor production  inositol trisphosphate biosynthetic process  G-protein coupled purinergic nucleotide receptor signaling pathway  intracellular membrane-bounded organelle  positive regulation of neutrophil degranulation  G-protein coupled purinergic nucleotide receptor activity  transcytosis  positive regulation of interleukin-6 biosynthetic process  positive regulation of translation  negative regulation of blood pressure  positive regulation of vasoconstriction  positive regulation of vasodilation  phosphatidylinositol-mediated signaling  positive regulation of smooth muscle cell proliferation  mitogen-activated protein kinase binding  interferon-gamma-mediated signaling pathway  positive regulation of inositol phosphate biosynthetic process  cellular response to gravity  cellular response to cAMP  cellular response to fatty acid  response to dexamethasone  positive regulation of voltage-gated chloride channel activity  positive regulation of leukocyte tethering or rolling  positive regulation of sensory perception of pain  positive regulation of transcytosis  positive regulation of maternal process involved in parturition  positive regulation of gastro-intestinal system smooth muscle contraction  cellular response to 2-O-acetyl-1-O-hexadecyl-sn-glycero-3-phosphocholine  
Pathways : KEGGCalcium signaling pathway    Neuroactive ligand-receptor interaction    Staphylococcus aureus infection   
NDEx NetworkPTAFR
Atlas of Cancer Signalling NetworkPTAFR
Wikipedia pathwaysPTAFR
Orthology - Evolution
OrthoDB5724
GeneTree (enSembl)ENSG00000169403
Phylogenetic Trees/Animal Genes : TreeFamPTAFR
HOVERGENP25105
HOGENOMP25105
Homologs : HomoloGenePTAFR
Homology/Alignments : Family Browser (UCSC)PTAFR
Gene fusions - Rearrangements
Fusion : MitelmanEXOC4/PTAFR [7q33/1p35.3]  [t(1;7)(p35;q33)]  
Fusion: TCGAEXOC4 7q33 PTAFR 1p35.3 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTAFR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTAFR
dbVarPTAFR
ClinVarPTAFR
1000_GenomesPTAFR 
Exome Variant ServerPTAFR
ExAC (Exome Aggregation Consortium)PTAFR (select the gene name)
Genetic variants : HAPMAP5724
Genomic Variants (DGV)PTAFR [DGVbeta]
DECIPHER (Syndromes)1:28473677-28503455  ENSG00000169403
CONAN: Copy Number AnalysisPTAFR 
Mutations
ICGC Data PortalPTAFR 
TCGA Data PortalPTAFR 
Broad Tumor PortalPTAFR
OASIS PortalPTAFR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTAFR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTAFR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PTAFR
DgiDB (Drug Gene Interaction Database)PTAFR
DoCM (Curated mutations)PTAFR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTAFR (select a term)
intoGenPTAFR
Cancer3DPTAFR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM173393   
Orphanet
MedgenPTAFR
Genetic Testing Registry PTAFR
NextProtP25105 [Medical]
TSGene5724
GENETestsPTAFR
Huge Navigator PTAFR [HugePedia]
snp3D : Map Gene to Disease5724
BioCentury BCIQPTAFR
ClinGenPTAFR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5724
Chemical/Pharm GKB GenePA33933
Clinical trialPTAFR
Miscellaneous
canSAR (ICR)PTAFR (select the gene name)
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTAFR
EVEXPTAFR
GoPubMedPTAFR
iHOPPTAFR
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 Mar 14 13:23:28 CET 2017

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