Summary ?
GeneID84812
SymbolPLCD4
Synonyms-
Descriptionphospholipase C delta 4
ReferenceMIM:605939|HGNC:HGNC:9062|Ensembl:ENSG00000115556|HPRD:07296|Vega:OTTHUMG00000154743
Gene typeprotein-coding
Map location2q35
Sherlock p-value1.549E-5
Fetal beta-0.508
eGeneCerebellar Hemisphere
Cerebellum

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:McCarthy_2014Whole Exome Sequencing analysisWhole exome sequencing of 57 trios with sporadic or familial schizophrenia.
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01016 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.00916 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
PLCD4chr2219498436AGNM_032726p.I520Vmissense SNVSchizophreniaDNM:McCarthy_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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004871signal transducer activityIEA-
GO:0005509calcium ion bindingIEA-
GO:0004435phosphoinositide phospholipase C activityIEA-
GO:0016787hydrolase activityIEA-
GO:0008081phosphoric diester hydrolase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0016042lipid catabolic processIEA-
GO:0007242intracellular signaling cascadeIEA-
GO:0006629lipid metabolic processIEA-
GO:0007340acrosome reactionIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005622intracellularIEA-
GO:0005634nucleusIEA-
GO:0005737cytoplasmIEA-
GO:0005783endoplasmic reticulumIEA-
GO:0016020membraneIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG INOSITOL PHOSPHATE METABOLISM 5442All SZGR 2.0 genes in this pathway
KEGG CALCIUM SIGNALING PATHWAY 178134All SZGR 2.0 genes in this pathway
KEGG PHOSPHATIDYLINOSITOL SIGNALING SYSTEM 7656All SZGR 2.0 genes in this pathway
APPIERTO RESPONSE TO FENRETINIDE UP 3826All SZGR 2.0 genes in this pathway
MARTORIATI MDM4 TARGETS FETAL LIVER UP 227137All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP 769437All SZGR 2.0 genes in this pathway
HILLION HMGA1 TARGETS 9071All SZGR 2.0 genes in this pathway
AMUNDSON POOR SURVIVAL AFTER GAMMA RADIATION 2G 17196All SZGR 2.0 genes in this pathway
MATZUK SPERMATOZOA 11477All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
MIKKELSEN MEF LCP WITH H3K27ME3 7035All SZGR 2.0 genes in this pathway
MIKKELSEN NPC LCP WITH H3K4ME3 5834All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-1995475531Ahsa-miR-199aCCCAGUGUUCAGACUACCUGUUC
hsa-miR-199bCCCAGUGUUUAGACUAUCUGUUC