Gene Page: ATP6V0D1

Summary ?
GeneID9114
SymbolATP6V0D1
SynonymsATP6D|ATP6DV|P39|VATX|VMA6|VPATPD
DescriptionATPase H+ transporting V0 subunit d1
ReferenceMIM:607028|HGNC:HGNC:13724|Ensembl:ENSG00000159720|HPRD:06121|Vega:OTTHUMG00000137515
Gene typeprotein-coding
Map location16q22.1
Pascal p-value2.575E-4
Sherlock p-value0.484
Fetal beta-1.028
DMG2 (# studies)
eGeneMyers' cis & trans
SupportION BALANCE
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_TAP-PSD-95-CORE
G2Cdb.humanNRC
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Nishioka_2013Genome-wide DNA methylation analysisThe authors investigated the methylation profiles of DNA in peripheral blood cells from 18 patients with first-episode schizophrenia (FESZ) and from 15 normal controls. 4
DMG:vanEijk_2014Genome-wide DNA methylation analysisThis dataset includes 432 differentially methylated CpG sites corresponding to 391 unique transcripts between schizophrenia patients (n=260) and unaffected controls (n=250). 4
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0972 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg198159281667514524ATP6V0D1-0.0290.25DMG:Nishioka_2013
cg154267341667695272ATP6V0D16.22E-5-4.993DMG:vanEijk_2014
cg049258641667562517ATP6V0D17.84E-6-5.943DMG:vanEijk_2014
cg181070721667427811ATP6V0D15.76E-5-6.576DMG:vanEijk_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs506300chr1378101805ATP6V0D191140.16trans

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
PSPC10.930.94
LRRC590.920.94
NOLC10.910.91
GRB20.910.92
ASH2L0.910.91
RAD23B0.910.90
C6orf1680.910.90
PRPF40.910.93
VPS26B0.910.91
WBP110.910.90
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MT-CO2-0.84-0.87
FXYD1-0.83-0.84
AF347015.33-0.83-0.84
AF347015.31-0.82-0.84
AF347015.8-0.81-0.85
MT-CYB-0.81-0.83
AF347015.27-0.79-0.83
AC021016.1-0.78-0.82
AF347015.2-0.78-0.83
AF347015.21-0.78-0.84

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0016787hydrolase activityIEA-
GO:0008553hydrogen-exporting ATPase activity, phosphorylative mechanismIEA-
GO:0046961hydrogen ion transporting ATPase activity, rotational mechanismIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006811ion transportIEA-
GO:0015992proton transportNAS11118322 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0016469proton-transporting two-sector ATPase complexIEA-
GO:0016471vacuolar proton-transporting V-type ATPase complexNAS11118322 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG OXIDATIVE PHOSPHORYLATION 13573All SZGR 2.0 genes in this pathway
KEGG LYSOSOME 12183All SZGR 2.0 genes in this pathway
KEGG VIBRIO CHOLERAE INFECTION 5632All SZGR 2.0 genes in this pathway
KEGG EPITHELIAL CELL SIGNALING IN HELICOBACTER PYLORI INFECTION 6844All SZGR 2.0 genes in this pathway
REACTOME INSULIN RECEPTOR RECYCLING 239All SZGR 2.0 genes in this pathway
REACTOME LATENT INFECTION OF HOMO SAPIENS WITH MYCOBACTERIUM TUBERCULOSIS 3315All SZGR 2.0 genes in this pathway
REACTOME DIABETES PATHWAYS 13391All SZGR 2.0 genes in this pathway
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413270All SZGR 2.0 genes in this pathway
REACTOME ACTIVATION OF CHAPERONE GENES BY XBP1S 4634All SZGR 2.0 genes in this pathway
REACTOME UNFOLDED PROTEIN RESPONSE 8051All SZGR 2.0 genes in this pathway
REACTOME IRON UPTAKE AND TRANSPORT 3618All SZGR 2.0 genes in this pathway
REACTOME TRANSFERRIN ENDOCYTOSIS AND RECYCLING 2510All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY INSULIN RECEPTOR 10872All SZGR 2.0 genes in this pathway
ZHONG RESPONSE TO AZACITIDINE AND TSA UP 183119All SZGR 2.0 genes in this pathway
CASORELLI ACUTE PROMYELOCYTIC LEUKEMIA DN 663425All SZGR 2.0 genes in this pathway
PROVENZANI METASTASIS UP 194112All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN UP 1142669All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN UP 612367All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA DN 394258All SZGR 2.0 genes in this pathway
DARWICHE SKIN TUMOR PROMOTER UP 14296All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK LOW UP 162104All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK HIGH DN 180110All SZGR 2.0 genes in this pathway
DARWICHE SQUAMOUS CELL CARCINOMA DN 181107All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE UP 13493All SZGR 2.0 genes in this pathway
AMUNDSON RESPONSE TO ARSENITE 217143All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS UP 380213All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382224All SZGR 2.0 genes in this pathway
LEI MYB TARGETS 318215All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN 408274All SZGR 2.0 genes in this pathway
SESTO RESPONSE TO UV C3 2015All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS DN 314188All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS UP 317208All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION UP 461298All SZGR 2.0 genes in this pathway
ALONSO METASTASIS UP 198128All SZGR 2.0 genes in this pathway
BOHN PRIMARY IMMUNODEFICIENCY SYNDROM DN 4031All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS UP 491316All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS UNANNOTATED DN 193112All 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
KIM ALL DISORDERS CALB1 CORR UP 548370All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway
HUANG GATA2 TARGETS UP 14996All SZGR 2.0 genes in this pathway
RATTENBACHER BOUND BY CELF1 467251All SZGR 2.0 genes in this pathway