Gene Page:PTAFR

Summary?
GeneID 5724
Symbol PTAFR
Synonyms PAFR
Description platelet activating factor receptor
Reference MIM:173393|HGNC:HGNC:9582|Ensembl:ENSG00000169403|HPRD:01422|Vega:OTTHUMG00000003953
Gene type protein-coding
Map location 1p35-p34.3
Pascal p-value 0.089
Fetal beta -0.611
eGene Caudate basal ganglia
Cerebellum
Support CompositeSet

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
Network Shortest path distance of core genes in the Human protein-protein interaction network Contribution to shortest path in PPI network: 0.0161

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
PTAFR chr1 28476760 G C NM_000952
NM_001164721
NM_001164722
NM_001164723		 p.258A>G
p.258A>G
p.258A>G
p.258A>G		 missense
missense
missense
missense		 Schizophrenia DNM: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
死神:胎儿(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
Gene Pearson's Correlation Spearman's Correlation
RAB10 0.92 0.91
ABCD3 0.91 0.91
ME2 0.91 0.91
SNX6 0.91 0.87
COPB1 0.90 0.87
SNX4 0.90 0.87
ABCE1 0.90 0.90
MATR3 0.90 0.89
GDI2 0.90 0.86
PPP1CC 0.90 0.90
Top 10 negatively co-expressed genes
Gene Pearson'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 function 去的术语 Evidence Neuro keywords PubMed ID
GO:0004872 receptor activity IEA -
GO:0005543 phospholipid binding IDA 1656963|1657923
GO:0004992 platelet activating factor receptor activity IDA 1281995|1656963|1657923
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0001816 cytokine production IEA -
GO:0007186 G-protein coupled receptor protein signaling pathway IMP 1657923
GO:0007165 signal transduction IEA -
GO:0048015 phosphoinositide-mediated signaling IDA 1657923
GO:0006955 immune response TAS 8892648
GO:0006954 inflammatory response TAS 8978777
GO:0006935 chemotaxis TAS 10601267
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005886 plasma membrane IEA -
GO:0005887 integral to plasma membrane TAS 8168510

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG CALCIUM SIGNALING PATHWAY 178 134 All SZGR 2.0 genes in this pathway
KEGG NEUROACTIVE LIGAND RECEPTOR INTERACTION 272 195 All SZGR 2.0 genes in this pathway
REACTOME GASTRIN CREB SIGNALLING PATHWAY VIA PKC AND MAPK 205 136 All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY GPCR 920 449 All SZGR 2.0 genes in this pathway
REACTOME CLASS A1 RHODOPSIN LIKE RECEPTORS 305 177 All SZGR 2.0 genes in this pathway
REACTOME G ALPHA Q SIGNALLING EVENTS 184 116 All SZGR 2.0 genes in this pathway
REACTOME GPCR DOWNSTREAM SIGNALING 805 368 All SZGR 2.0 genes in this pathway
REACTOME GPCR LIGAND BINDING 408 246 All SZGR 2.0 genes in this pathway
REACTOME INTERFERON GAMMA SIGNALING 63 48 All SZGR 2.0 genes in this pathway
REACTOME INTERFERON SIGNALING 159 116 All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933 616 All SZGR 2.0 genes in this pathway
REACTOME CYTOKINE SIGNALING IN IMMUNE SYSTEM 270 204 All SZGR 2.0 genes in this pathway
OSWALD HEMATOPOIETIC STEM CELL IN COLLAGEN GEL DN 275 168 All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 UP 380 236 All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 UP 418 263 All SZGR 2.0 genes in this pathway
ODONNELL TFRC TARGETS UP 456 228 All SZGR 2.0 genes in this pathway
ODONNELL TARGETS OF MYC AND TFRC UP 83 50 All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN 800 473 All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174 695 All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS DN 261 155 All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 240 MCF10A 20 13 All SZGR 2.0 genes in this pathway
ZHANG RESPONSE TO IKK INHIBITOR AND TNF UP 223 140 All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 DN 464 276 All SZGR 2.0 genes in this pathway
LENAOUR DENDRITIC CELL MATURATION DN 128 90 All SZGR 2.0 genes in this pathway
VERHAAK AML WITH NPM1 MUTATED UP 183 111 All SZGR 2.0 genes in this pathway
MA PITUITARY FETAL VS ADULT DN 19 17 All SZGR 2.0 genes in this pathway
特蕾西耐IFNA2 DN 32 23 All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 3D UP 210 124 All SZGR 2.0 genes in this pathway
MCCABE BOUND BY HOXC6 469 239 All SZGR 2.0 genes in this pathway
WILENSKY RESPONSE TO DARAPLADIB 29 20 All SZGR 2.0 genes in this pathway
YAUCH HEDGEHOG SIGNALING PARACRINE DN 264 159 All SZGR 2.0 genes in this pathway
VALK AML CLUSTER 5 33 24 All SZGR 2.0 genes in this pathway