Gene Page: PTAFR

Summary ?
GeneID5724
SymbolPTAFR
SynonymsPAFR
Descriptionplatelet activating factor receptor
ReferenceMIM:173393|HGNC:HGNC:9582|Ensembl:ENSG00000169403|HPRD:01422|Vega:OTTHUMG00000003953
Gene typeprotein-coding
Map location1p35-p34.3
Pascal p-value0.089
Fetal beta-0.611
eGeneCaudate basal ganglia
Cerebellum
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0161 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
PTAFRchr128476760GCNM_000952
NM_001164721
NM_001164722
NM_001164723		p.258A>G
p.258A>G
p.258A>G
p.258A>G		missense
missense
missense
missense		SchizophreniaDNM:Fromer_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
RAB100.920.91
ABCD30.910.91
ME20.910.91
SNX60.910.87
COPB10.900.87
SNX40.900.87
ABCE10.900.90
MATR30.900.89
GDI20.900.86
PPP1CC0.900.90
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AC018755.7-0.63-0.72
MT-CO2-0.61-0.74
FXYD1-0.60-0.73
AF347015.33-0.59-0.71
IFI27-0.58-0.72
HLA-F-0.58-0.68
AF347015.31-0.57-0.71
MT-CYB-0.57-0.70
AF347015.8-0.57-0.71
HIGD1B-0.56-0.71

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004872receptor activityIEA-
GO:0005543phospholipid bindingIDA1656963 |1657923 
GO:0004992platelet activating factor receptor activityIDA1281995 |1656963 |1657923 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0001816cytokine productionIEA-
GO:0007186G-protein coupled receptor protein signaling pathwayIMP1657923 
GO:0007165signal transductionIEA-
GO:0048015phosphoinositide-mediated signalingIDA1657923 
GO:0006955immune responseTAS8892648 
GO:0006954inflammatory responseTAS8978777 
GO:0006935chemotaxisTAS10601267 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005886plasma membraneIEA-
GO:0005887integral to plasma membraneTAS8168510 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG CALCIUM SIGNALING PATHWAY 178134All SZGR 2.0 genes in this pathway
KEGG NEUROACTIVE LIGAND RECEPTOR INTERACTION 272195All SZGR 2.0 genes in this pathway
REACTOME GASTRIN CREB SIGNALLING PATHWAY VIA PKC AND MAPK 205136All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY GPCR 920449All SZGR 2.0 genes in this pathway
REACTOME CLASS A1 RHODOPSIN LIKE RECEPTORS 305177All SZGR 2.0 genes in this pathway
REACTOME G ALPHA Q SIGNALLING EVENTS 184116All SZGR 2.0 genes in this pathway
REACTOME GPCR DOWNSTREAM SIGNALING 805368All SZGR 2.0 genes in this pathway
REACTOME GPCR LIGAND BINDING 408246All SZGR 2.0 genes in this pathway
REACTOME INTERFERON GAMMA SIGNALING 6348All SZGR 2.0 genes in this pathway
REACTOME INTERFERON SIGNALING 159116All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
REACTOME CYTOKINE SIGNALING IN IMMUNE SYSTEM 270204All SZGR 2.0 genes in this pathway
OSWALD HEMATOPOIETIC STEM CELL IN COLLAGEN GEL DN 275168All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 UP 380236All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 UP 418263All SZGR 2.0 genes in this pathway
ODONNELL TFRC TARGETS UP 456228All SZGR 2.0 genes in this pathway
ODONNELL TARGETS OF MYC AND TFRC UP 8350All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN 800473All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS DN 261155All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 240 MCF10A 2013All SZGR 2.0 genes in this pathway
ZHANG RESPONSE TO IKK INHIBITOR AND TNF UP 223140All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 DN 464276All SZGR 2.0 genes in this pathway
LENAOUR DENDRITIC CELL MATURATION DN 12890All SZGR 2.0 genes in this pathway
VERHAAK AML WITH NPM1 MUTATED UP 183111All SZGR 2.0 genes in this pathway
MA PITUITARY FETAL VS ADULT DN 1917All SZGR 2.0 genes in this pathway
TRACEY RESISTANCE TO IFNA2 DN 3223All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 3D UP 210124All SZGR 2.0 genes in this pathway
MCCABE BOUND BY HOXC6 469239All SZGR 2.0 genes in this pathway
WILENSKY RESPONSE TO DARAPLADIB 2920All SZGR 2.0 genes in this pathway
YAUCH HEDGEHOG SIGNALING PARACRINE DN 264159All SZGR 2.0 genes in this pathway
VALK AML CLUSTER 5 3324All SZGR 2.0 genes in this pathway