Summary ?
GeneID10654
SymbolPMVK
SynonymsHUMPMKI|PMK|PMKA|PMKASE|POROK1
Descriptionphosphomevalonate kinase
ReferenceMIM:607622|HGNC:HGNC:9141|Ensembl:ENSG00000163344|HPRD:07404|Vega:OTTHUMG00000037415
Gene typeprotein-coding
Map location1q22
Sherlock p-value0.592
Fetal beta-0.268
DMG1 (# studies)
SupportG2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
GSMA_IGenome scan meta-analysisPsr: 0.0235 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.00814 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg163097291154909663PMVK7.9E-8-0.0181.86E-5DMG:Jaffe_2016


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:0004631phosphomevalonate kinase activityTAS10191291 
GO:0005515protein bindingIPI17353931 
GO:0016740transferase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006468protein amino acid phosphorylationTAS10191291 
GO:0006695cholesterol biosynthetic processIEA-
GO:0006629lipid metabolic processTAS10191291 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005737cytoplasmIEA-
GO:0005777peroxisomeTAS10191291 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG TERPENOID BACKBONE BIOSYNTHESIS 1510All SZGR 2.0 genes in this pathway
KEGG PEROXISOME 7847All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF LIPIDS AND LIPOPROTEINS 478302All SZGR 2.0 genes in this pathway
REACTOME CHOLESTEROL BIOSYNTHESIS 2416All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 48HR DN 6439All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 96HR DN 7550All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
LOCKWOOD AMPLIFIED IN LUNG CANCER 214139All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 1Q21 AMPLICON 3818All SZGR 2.0 genes in this pathway
CHEOK RESPONSE TO MERCAPTOPURINE DN 2215All SZGR 2.0 genes in this pathway
SMITH LIVER CANCER 4527All SZGR 2.0 genes in this pathway
JAIN NFKB SIGNALING 7544All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953554All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011592All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528324All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP 756494All SZGR 2.0 genes in this pathway
KIM BIPOLAR DISORDER OLIGODENDROCYTE DENSITY CORR UP 682440All SZGR 2.0 genes in this pathway
LU EZH2 TARGETS UP 295155All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE EARLY LATE 317190All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 AND SATB1 DN 180116All SZGR 2.0 genes in this pathway
DURAND STROMA S UP 297194All SZGR 2.0 genes in this pathway
HORTON SREBF TARGETS 2520All SZGR 2.0 genes in this pathway