Summary ?
GeneID2812
SymbolGP1BB
SynonymsBDPLT1|BS|CD42C|GPIBB|GPIbbeta
Descriptionglycoprotein Ib platelet beta subunit
ReferenceMIM:138720|HGNC:HGNC:4440|HPRD:00729|Vega:OTTHUMG00000150397
Gene typeprotein-coding
Map location22q11.21
Sherlock p-value0.82
Fetal beta-0.103
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
GSMA_IGenome scan meta-analysisPsr: 0.031 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs11960343chr539770955GP1BB28120.17trans

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004888transmembrane receptor activityNAS3353370 
GO:0005515protein bindingIPI11943773 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007155cell adhesionIEA-
GO:0007166cell surface receptor linked signal transductionNAS3353370 
GO:0030168platelet activationNAS12871509 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005886plasma membraneEXP1939645 |8608228 
GO:0005887integral to plasma membraneNAS3353370 
GO:0031092platelet alpha granule membraneEXP8608228 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG ECM RECEPTOR INTERACTION 8453All SZGR 2.0 genes in this pathway
KEGG HEMATOPOIETIC CELL LINEAGE 8860All SZGR 2.0 genes in this pathway
REACTOME PLATELET ADHESION TO EXPOSED COLLAGEN 128All SZGR 2.0 genes in this pathway
REACTOME FORMATION OF FIBRIN CLOT CLOTTING CASCADE 3222All SZGR 2.0 genes in this pathway
REACTOME PLATELET AGGREGATION PLUG FORMATION 3623All SZGR 2.0 genes in this pathway
REACTOME INTRINSIC PATHWAY 1712All SZGR 2.0 genes in this pathway
REACTOME HEMOSTASIS 466331All SZGR 2.0 genes in this pathway
REACTOME PLATELET ACTIVATION SIGNALING AND AGGREGATION 208138All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION DN 234147All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND SERUM DEPRIVATION DN 8454All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355243All SZGR 2.0 genes in this pathway
STARK PREFRONTAL CORTEX 22Q11 DELETION DN 517309All SZGR 2.0 genes in this pathway
STARK HYPPOCAMPUS 22Q11 DELETION DN 2019All SZGR 2.0 genes in this pathway
ADDYA ERYTHROID DIFFERENTIATION BY HEMIN 7347All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN MGMT 48HR DN 161105All SZGR 2.0 genes in this pathway
ENGELMANN CANCER PROGENITORS DN 7044All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 491319All SZGR 2.0 genes in this pathway
SETLUR PROSTATE CANCER TMPRSS2 ERG FUSION UP 6748All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590403All SZGR 2.0 genes in this pathway
WIERENGA STAT5A TARGETS DN 213127All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682433All SZGR 2.0 genes in this pathway
TORCHIA TARGETS OF EWSR1 FLI1 FUSION DN 321200All SZGR 2.0 genes in this pathway
HUANG GATA2 TARGETS DN 7252All SZGR 2.0 genes in this pathway