Disease table of MITOCHONDRIAL DNA DEPLETION SYNDROME OMIM ID: PS603041

Gene-disease associations table

GeneAssociated with MITOCHONDRIAL DNA DEPLETION SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
AGKClinVar, OMIMHGNC link7q342PS116200, PS603041
SUCLA2ClinVar, OMIM, HUMSAVARHGNC link13q14.21PS603041
OPA1OMIMHGNC link3q296PS256300, 210000, PS165500, PS603041, 125250, 606657
C10orf2ClinVar, OMIM, HUMSAVARHGNC link10q24.314PS157640, 607459, PS603041, PS233400
FBXL4ClinVar, OMIM, HUMSAVARHGNC link6q16.21PS603041
SLC25A4ClinVar, OMIMHGNC link4q35.12PS157640, PS603041
POLGClinVar, OMIM, HUMSAVARHGNC link15q26.14PS157640, 607459, PS603041, 256000
TYMPClinVar, OMIM, HUMSAVARHGNC link22q13.331PS603041
SUCLG1ClinVar, OMIM, HUMSAVARHGNC link2p11.21PS603041
RRM2BClinVar, OMIM, HUMSAVARHGNC link8q22.32PS157640, PS603041
DGUOKClinVar, OMIM, HUMSAVARHGNC link2p13.11PS603041
MPV17ClinVar, OMIM, HUMSAVARHGNC link2p23.31PS603041
TK2ClinVar, OMIM, HUMSAVARHGNC link16q211PS603041
MGME1ClinVar, OMIM, HUMSAVARHGNC link20p11.231PS603041

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
2p12SUCLG1, DGUOK
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
2p3SUCLG1, DGUOK, MPV17
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
23SUCLG1, DGUOK, MPV17
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
TYMPYES2SP1, SP30
RRM2BYES4POU2F1, NFKB1, CREB1, TP530
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
AGKSUCLA2No3NTRK1, AGO4, ICT1
AGKOPA1No3NTRK1, PARK2, CUL3
AGKC10orf2No2BMI1, ICT1
AGKSLC25A4No2PARK2, ICT1
SUCLA2OPA1No3NTRK1, EGFR, NIT2
SUCLA2C10orf2No1ICT1
SUCLA2SLC25A4No3FAF2, UBXN8, ICT1
SUCLA2SUCLG1Yes4S100A16, OXCT1, SDHB, SDHA
SUCLA2RRM2BNo1RRM1
SUCLA2MPV17No1EGFR
SUCLA2TK2No1RBM4
OPA1SLC25A4No2MCM2, PARK2
OPA1TYMPNo1EEF2
OPA1SUCLG1No1MYC
OPA1RRM2BNo1MCM2
OPA1DGUOKNo1APP
OPA1MPV17No2NDUFS8, EGFR
C10orf2SLC25A4No1ICT1
SLC25A4RRM2BNo1MCM2
SLC25A4MPV17No2SLC25A24, MOV10
POLGMGME1No1OXLD1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
SUCLA2SLC25A4No-1UBC
SUCLA2SUCLG1Yesbinding2IDH3A, ACLY
SUCLA2RRM2BNo-1UBC
SUCLA2DGUOKNo-1UBC
SLC25A4RRM2BNo-1UBC
SLC25A4DGUOKNo-1UBC
RRM2BDGUOKNo-1UBC

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
SUCLA2SUCLG1YesSuccinyl-CoA synthetase, ADP-forming0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CENSUS
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SUCLA2OPA1No1NIT2
SUCLA2SUCLG1Yes3S100A16, OXCT1, SDHA
OPA1MPV17No1NDUFS8

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
C10orf2POLGyes, complexIn vitro, C10orf2 forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.498TK2, AGK, TYMP, POLG, SUCLA2, DGUOK, SUCLG1, RRM2B
Pyrimidine metabolismhsa002406.013TYMP, RRM2B, TK2
Carbon metabolismhsa012006.032SUCLA2, SUCLG1
Drug metabolism - other enzymeshsa009837.212TYMP, TK2
Propanoate metabolismhsa006407.812SUCLA2, SUCLG1
Citrate cycle (TCA cycle)hsa000207.862SUCLA2, SUCLG1
Purine metabolismhsa002305.282RRM2B, DGUOK

NET-GE enrichment

Term New enriched termICP valueGenes
Global and overview mapsNEW2.470.001TK2, AGK, TYMP, C10orf2, POLG, SUCLA2, DGUOK, SUCLG1, RRM2B
MetabolismNEW2.060.01SUCLG1, TYMP, POLG, AGK, SUCLA2, DGUOK, TK2, RRM2B
Metabolic pathways (hsa01100) -2.490.04TK2, AGK, TYMP, C10orf2, POLG, SUCLA2, DGUOK, SUCLG1, RRM2B
Nucleotide metabolismNEW5.050.005RRM2B, DGUOK, TYMP, TK2
Citrate cycle (TCA cycle) (hsa00020) -7.860.04SUCLA2, SUCLG1
Propanoate metabolism (hsa00640) -7.810.029SUCLA2, SUCLG1
Pyrimidine metabolism (hsa00240) -6.010.014TYMP, RRM2B, TK2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
MetabolismR-HSA-14307282.347SLC25A4, SUCLG1, TYMP, SUCLA2, DGUOK, TK2, RRM2B
Metabolism of nucleotidesR-HSA-158696.74RRM2B, DGUOK, TYMP, TK2
Pyrimidine metabolismR-HSA-738488.42TYMP, TK2
The citric acid (TCA) cycle and respiratory electron transportR-HSA-14285175.712SUCLA2, SUCLG1
Pyrimidine salvage reactionsR-HSA-736149.812TYMP, TK2
Pyruvate metabolism and Citric Acid (TCA) cycleR-HSA-714067.562SUCLA2, SUCLG1
Citric acid cycle (TCA cycle)R-HSA-714038.732SUCLA2, SUCLG1

NET-GE enrichment

Term New enriched termICP valueGenes
Pyruvate metabolism and Citric Acid (TCA) cycle (R-HSA-71406) -7.560.026SUCLA2, SUCLG1
Citric acid cycle (TCA cycle) (R-HSA-71403) -8.730.005SUCLA2, SUCLG1
Pyrimidine salvage reactions (R-HSA-73614) -9.810.007TYMP, TK2
Pyrimidine metabolism (R-HSA-73848) -8.40.008TYMP, TK2
Metabolism of nucleotides (R-HSA-15869) -6.70.001RRM2B, DGUOK, TYMP, TK2
Pyrimidine catabolism (R-HSA-73621) NEW9.40.013TYMP, SUCLA2
Metabolism (R-HSA-1430728) -2.340.047TK2, SLC25A4, AGK, TYMP, C10orf2, SUCLA2, DGUOK, SUCLG1, RRM2B
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.0512TK2, OPA1, SUCLG1, TYMP, C10orf2, POLG, SUCLA2, FBXL4, AGK, DGUOK, RRM2B, MGME1
binding (GO:0005488) 0.1811TK2, OPA1, SLC25A4, SUCLG1, TYMP, C10orf2, POLG, SUCLA2, DGUOK, AGK, RRM2B
organic cyclic compound binding (GO:0097159) 1.058TK2, OPA1, AGK, C10orf2, POLG, SUCLA2, DGUOK, SUCLG1
heterocyclic compound binding (GO:1901363) 1.068TK2, OPA1, C10orf2, POLG, AGK, SUCLA2, DGUOK, SUCLG1
carbohydrate derivative binding (GO:0097367) 2.037TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
nucleotide binding (GO:0000166) 1.967TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
small molecule binding (GO:0036094) 1.897TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
purine ribonucleoside triphosphate binding (GO:0035639) 2.227TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
ribonucleotide binding (GO:0032553) 2.197TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
purine nucleoside binding (GO:0001883) 2.227TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
ribonucleoside binding (GO:0032549) 2.227TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
purine ribonucleotide binding (GO:0032555) 2.27OPA1, SUCLG1, C10orf2, AGK, SUCLA2, DGUOK, TK2
purine nucleotide binding (GO:0017076) 2.197TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
purine ribonucleoside binding (GO:0032550) 2.227TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
nucleoside phosphate binding (GO:1901265) 1.967TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
nucleoside binding (GO:0001882) 2.217TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
transferase activity (GO:0016740) 1.956AGK, TYMP, POLG, DGUOK, TK2, FBXL4
protein binding (GO:0005515) 0.466SLC25A4, TYMP, POLG, SUCLA2, OPA1, RRM2B
adenyl ribonucleotide binding (GO:0032559) 2.415SUCLA2, TK2, DGUOK, C10orf2, AGK
ATP binding (GO:0005524) 2.435SUCLA2, DGUOK, TK2, AGK, C10orf2
adenyl nucleotide binding (GO:0030554) 2.45SUCLA2, TK2, DGUOK, C10orf2, AGK
hydrolase activity (GO:0016787) 1.94MGME1, OPA1, C10orf2, POLG
ion binding (GO:0043167) 1.364RRM2B, C10orf2, SUCLA2, OPA1
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.774DGUOK, TK2, POLG, AGK
cation binding (GO:0043169) 1.43SUCLA2, RRM2B, OPA1
metal ion binding (GO:0046872) 1.413SUCLA2, RRM2B, OPA1
kinase activity (GO:0016301) 2.933DGUOK, TK2, AGK
nucleic acid binding (GO:0003676) 1.443C10orf2, SUCLG1, POLG
CoA-ligase activity (GO:0016405) 7.542SUCLA2, SUCLG1
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032C10orf2, OPA1
nucleoside kinase activity (GO:0019206) 7.12DGUOK, TK2
guanyl ribonucleotide binding (GO:0032561) 3.732OPA1, SUCLG1
nuclease activity (GO:0004518) 4.332MGME1, POLG
deoxynucleoside kinase activity (GO:0019136) 8.352DGUOK, TK2
nucleobase-containing compound kinase activity (GO:0019205) 5.852DGUOK, TK2
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032C10orf2, OPA1
hydrolase activity, acting on ester bonds (GO:0016788) 3.12MGME1, POLG
nucleoside-triphosphatase activity (GO:0017111) 3.092C10orf2, OPA1
acid-thiol ligase activity (GO:0016878) 6.742SUCLA2, SUCLG1
guanyl nucleotide binding (GO:0019001) 3.732OPA1, SUCLG1
ligase activity, forming carbon-sulfur bonds (GO:0016877) 6.052SUCLA2, SUCLG1
DNA binding (GO:0003677) 1.922C10orf2, POLG
succinate-CoA ligase activity (GO:0004774) 8.642SUCLA2, SUCLG1
succinate-CoA ligase (ADP-forming) activity (GO:0004775) 9.052SUCLA2, SUCLG1
pyrophosphatase activity (GO:0016462) 3.042C10orf2, OPA1
ligase activity (GO:0016874) 3.722SUCLA2, SUCLG1
exonuclease activity (GO:0004527) 5.332MGME1, POLG
GTP binding (GO:0005525) 3.782OPA1, SUCLG1

NET-GE enrichment

Term New enriched termICP valueGenes
acid-thiol ligase activity (GO:0016878) -6.740.01SUCLA2, SUCLG1
purine nucleotide binding (GO:0017076) -2.190.032TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
nucleoside kinase activity (GO:0019206) -7.10.01DGUOK, TK2
purine ribonucleoside triphosphate binding (GO:0035639) -2.220.026TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
deoxynucleoside kinase activity (GO:0019136) -8.350.001DGUOK, TK2
CoA-ligase activity (GO:0016405) -7.540.002SUCLA2, SUCLG1
catalytic activity (GO:0003824) -1.050.034TK2, OPA1, SUCLG1, TYMP, C10orf2, POLG, SUCLA2, DGUOK, AGK, RRM2B, MGME1
purine ribonucleotide binding (GO:0032555) -2.20.03TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
ribonucleotide binding (GO:0032553) -2.190.032TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
ribonucleoside binding (GO:0032549) -2.220.028TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
succinate-CoA ligase activity (GO:0004774) -8.640.001SUCLA2, SUCLG1
succinate-CoA ligase (ADP-forming) activity (GO:0004775) -9.050.0SUCLA2, SUCLG1
nucleoside binding (GO:0001882) -2.210.029TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
purine ribonucleoside binding (GO:0032550) -2.220.027TK2, OPA1, AGK, C10orf2, SUCLA2, DGUOK, SUCLG1
purine nucleoside binding (GO:0001883) -2.220.028OPA1, SUCLG1, C10orf2, AGK, SUCLA2, DGUOK, TK2
ligase activity, forming carbon-sulfur bonds (GO:0016877) -6.050.027SUCLA2, SUCLG1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.2614MPV17, TK2, SLC25A4, AGK, TYMP, SUCLG1, C10orf2, POLG, SUCLA2, FBXL4, OPA1, DGUOK, RRM2B, MGME1
organic substance metabolic process (GO:0071704) 0.6312TK2, SLC25A4, SUCLG1, TYMP, C10orf2, POLG, SUCLA2, FBXL4, AGK, DGUOK, RRM2B, MGME1
metabolic process (GO:0008152) 0.5812TK2, SLC25A4, SUCLG1, TYMP, C10orf2, POLG, SUCLA2, FBXL4, AGK, DGUOK, RRM2B, MGME1
cellular metabolic process (GO:0044237) 0.6912TK2, SLC25A4, SUCLG1, TYMP, C10orf2, POLG, SUCLA2, FBXL4, AGK, DGUOK, RRM2B, MGME1
primary metabolic process (GO:0044238) 0.6912TK2, SLC25A4, SUCLG1, TYMP, C10orf2, POLG, SUCLA2, FBXL4, AGK, DGUOK, RRM2B, MGME1
organic substance biosynthetic process (GO:1901576) 1.3411TK2, SLC25A4, SUCLG1, TYMP, C10orf2, POLG, SUCLA2, DGUOK, AGK, RRM2B, MGME1
cellular nitrogen compound metabolic process (GO:0034641) 1.2211TK2, SLC25A4, SUCLG1, MGME1, C10orf2, POLG, SUCLA2, DGUOK, AGK, RRM2B, TYMP
cellular biosynthetic process (GO:0044249) 1.3711TK2, SLC25A4, SUCLG1, MGME1, C10orf2, POLG, SUCLA2, DGUOK, AGK, RRM2B, TYMP
biosynthetic process (GO:0009058) 1.3211TK2, SLC25A4, SUCLG1, TYMP, C10orf2, POLG, SUCLA2, DGUOK, AGK, RRM2B, MGME1
nitrogen compound metabolic process (GO:0006807) 1.1311TK2, SLC25A4, SUCLG1, TYMP, C10orf2, POLG, SUCLA2, DGUOK, AGK, RRM2B, MGME1
single-organism process (GO:0044699) 0.4811MPV17, TK2, OPA1, SLC25A4, SUCLG1, TYMP, POLG, SUCLA2, DGUOK, AGK, RRM2B
single-organism cellular process (GO:0044763) 0.6510MPV17, TK2, SUCLG1, TYMP, POLG, AGK, SUCLA2, DGUOK, OPA1, RRM2B
cellular nitrogen compound biosynthetic process (GO:0044271) 1.599TK2, SLC25A4, AGK, TYMP, POLG, SUCLA2, DGUOK, SUCLG1, RRM2B
cellular macromolecule metabolic process (GO:0044260) 0.939SLC25A4, TYMP, POLG, C10orf2, FBXL4, TK2, DGUOK, RRM2B, MGME1
cellular aromatic compound metabolic process (GO:0006725) 1.39TK2, TYMP, C10orf2, POLG, SUCLA2, DGUOK, SUCLG1, RRM2B, MGME1
macromolecule metabolic process (GO:0043170) 0.839SLC25A4, MGME1, POLG, C10orf2, FBXL4, TK2, DGUOK, RRM2B, TYMP
organic cyclic compound metabolic process (GO:1901360) 1.269TK2, TYMP, C10orf2, POLG, SUCLA2, DGUOK, SUCLG1, RRM2B, MGME1
heterocycle metabolic process (GO:0046483) 1.319TK2, TYMP, C10orf2, POLG, SUCLA2, DGUOK, SUCLG1, RRM2B, MGME1
nucleobase-containing compound metabolic process (GO:0006139) 1.358TK2, TYMP, POLG, C10orf2, DGUOK, SUCLG1, RRM2B, MGME1
single-organism metabolic process (GO:0044710) 1.637TK2, AGK, TYMP, SUCLA2, DGUOK, SUCLG1, RRM2B
macromolecule biosynthetic process (GO:0009059) 1.617SLC25A4, TYMP, POLG, C10orf2, TK2, RRM2B, MGME1
cellular macromolecule biosynthetic process (GO:0034645) 1.667SLC25A4, TYMP, POLG, C10orf2, TK2, RRM2B, MGME1
aromatic compound biosynthetic process (GO:0019438) 1.77SUCLG1, TYMP, POLG, SUCLA2, DGUOK, TK2, RRM2B
organic cyclic compound biosynthetic process (GO:1901362) 1.667TK2, TYMP, POLG, SUCLA2, DGUOK, SUCLG1, RRM2B
heterocycle biosynthetic process (GO:0018130) 1.77SUCLG1, TYMP, POLG, SUCLA2, DGUOK, TK2, RRM2B
organelle organization (GO:0006996) 2.026SLC25A4, MPV17, MGME1, C10orf2, OPA1, TYMP
single-organism biosynthetic process (GO:0044711) 2.86SUCLG1, TYMP, AGK, DGUOK, TK2, RRM2B
organonitrogen compound metabolic process (GO:1901564) 2.326SLC25A4, AGK, TYMP, SUCLA2, DGUOK, TK2
organonitrogen compound biosynthetic process (GO:1901566) 2.856SLC25A4, AGK, TYMP, SUCLA2, DGUOK, TK2
cellular component organization (GO:0016043) 1.246SLC25A4, MPV17, TYMP, C10orf2, OPA1, MGME1
nucleic acid metabolic process (GO:0090304) 1.466MGME1, POLG, C10orf2, TK2, RRM2B, TYMP
nucleobase-containing compound biosynthetic process (GO:0034654) 1.726SUCLG1, TYMP, POLG, DGUOK, TK2, RRM2B
phosphate-containing compound metabolic process (GO:0006796) 2.166SUCLG1, TYMP, AGK, DGUOK, TK2, RRM2B
biological regulation (GO:0065007) 0.396SLC25A4, MPV17, POLG, DGUOK, OPA1, RRM2B
small molecule metabolic process (GO:0044281) 2.386SUCLG1, TYMP, SUCLA2, DGUOK, TK2, RRM2B
phosphorus metabolic process (GO:0006793) 2.156SUCLG1, TYMP, AGK, DGUOK, TK2, RRM2B
DNA metabolic process (GO:0006259) 3.096MGME1, POLG, C10orf2, TK2, RRM2B, TYMP
cellular component organization or biogenesis (GO:0071840) 1.226SLC25A4, MPV17, MGME1, C10orf2, OPA1, TYMP
developmental process (GO:0032502) 1.365MPV17, TYMP, OPA1, RRM2B, POLG
cellular response to stimulus (GO:0051716) 1.975MGME1, RRM2B, OPA1, MPV17, POLG
mitochondrial genome maintenance (GO:0000002) 7.165TYMP, MGME1, SLC25A4, OPA1, MPV17
response to stimulus (GO:0050896) 1.225MPV17, MGME1, OPA1, RRM2B, POLG
regulation of cellular process (GO:0050794) 0.55DGUOK, RRM2B, SLC25A4, OPA1, MPV17
single-organism developmental process (GO:0044767) 1.495TYMP, RRM2B, OPA1, MPV17, POLG
response to stress (GO:0006950) 1.85MPV17, MGME1, OPA1, RRM2B, POLG
DNA replication (GO:0006260) 4.515MGME1, RRM2B, TYMP, POLG, C10orf2
nucleobase-containing small molecule metabolic process (GO:0055086) 3.595RRM2B, TYMP, DGUOK, SUCLG1, TK2
organophosphate metabolic process (GO:0019637) 3.045RRM2B, TK2, DGUOK, TYMP, SUCLG1
nucleoside phosphate metabolic process (GO:0006753) 3.715RRM2B, TYMP, DGUOK, SUCLG1, TK2
regulation of biological process (GO:0050789) 0.455SLC25A4, RRM2B, DGUOK, OPA1, MPV17
mitochondrion organization (GO:0007005) 3.695MGME1, OPA1, SLC25A4, TYMP, MPV17
carbohydrate derivative metabolic process (GO:1901135) 3.074RRM2B, DGUOK, TYMP, TK2
nucleotide metabolic process (GO:0009117) 3.734TYMP, DGUOK, RRM2B, TK2
nucleoside phosphate biosynthetic process (GO:1901293) 4.474RRM2B, DGUOK, TK2, SUCLG1
cellular response to stress (GO:0033554) 2.514RRM2B, OPA1, MGME1, MPV17
negative regulation of biological process (GO:0048519) 1.334SLC25A4, RRM2B, DGUOK, OPA1
organophosphate biosynthetic process (GO:0090407) 3.674RRM2B, DGUOK, TK2, SUCLG1
negative regulation of cellular process (GO:0048523) 1.414DGUOK, RRM2B, SLC25A4, OPA1
mitochondrial DNA metabolic process (GO:0032042) 7.093MGME1, RRM2B, POLG
acyl-CoA metabolic process (GO:0006637) 5.313SUCLA2, AGK, SUCLG1
coenzyme metabolic process (GO:0006732) 4.143SUCLA2, AGK, SUCLG1
phosphorylation (GO:0016310) 2.633DGUOK, TK2, AGK
carbohydrate derivative biosynthetic process (GO:1901137) 3.733RRM2B, TYMP, TK2
nucleotide biosynthetic process (GO:0009165) 4.493RRM2B, DGUOK, TK2
regulation of signaling (GO:0023051) 1.723RRM2B, SLC25A4, OPA1
regulation of cell communication (GO:0010646) 1.733RRM2B, SLC25A4, OPA1
cellular protein metabolic process (GO:0044267) 1.633SLC25A4, FBXL4, DGUOK
regulation of cell death (GO:0010941) 2.433RRM2B, SLC25A4, OPA1
mitochondrial DNA replication (GO:0006264) 7.533MGME1, RRM2B, POLG
regulation of programmed cell death (GO:0043067) 2.493RRM2B, SLC25A4, OPA1
DNA-dependent DNA replication (GO:0006261) 6.293MGME1, RRM2B, POLG
nucleoside triphosphate metabolic process (GO:0009141) 4.613RRM2B, DGUOK, SUCLG1
regulation of biological quality (GO:0065008) 1.683SLC25A4, MPV17, POLG
negative regulation of programmed cell death (GO:0043069) 3.023RRM2B, SLC25A4, OPA1
thioester metabolic process (GO:0035383) 5.313SUCLA2, AGK, SUCLG1
multicellular organismal process (GO:0032501) 1.453TYMP, RRM2B, OPA1
negative regulation of cell death (GO:0060548) 2.953RRM2B, SLC25A4, OPA1
cofactor metabolic process (GO:0051186) 3.913SUCLA2, AGK, SUCLG1
nucleoside metabolic process (GO:0009116) 4.123TYMP, DGUOK, TK2
response to chemical (GO:0042221) 1.983RRM2B, MPV17, POLG
cellular metabolic compound salvage (GO:0043094) 6.073TYMP, DGUOK, TK2
protein metabolic process (GO:0019538) 1.453SLC25A4, FBXL4, DGUOK
anatomical structure development (GO:0048856) 1.583TYMP, RRM2B, MPV17
glycosyl compound metabolic process (GO:1901657) 4.043TYMP, DGUOK, TK2
sulfur compound metabolic process (GO:0006790) 3.873SUCLA2, AGK, SUCLG1
negative regulation of apoptotic signaling pathway (GO:2001234) 4.422RRM2B, OPA1
regulation of neuron projection development (GO:0010975) 3.692DGUOK, OPA1
regulation of apoptotic signaling pathway (GO:2001233) 3.832RRM2B, OPA1
negative regulation of response to stimulus (GO:0048585) 2.522RRM2B, OPA1
regulation of response to stimulus (GO:0048583) 1.542RRM2B, OPA1
negative regulation of cellular component organization (GO:0051129) 3.352DGUOK, OPA1
regulation of cellular component organization (GO:0051128) 2.012DGUOK, OPA1
homeostatic process (GO:0042592) 2.612MPV17, POLG
negative regulation of signaling (GO:0023057) 2.652RRM2B, OPA1
tricarboxylic acid cycle (GO:0006099) 6.332SUCLA2, SUCLG1
deoxyribonucleoside monophosphate metabolic process (GO:0009162) 7.432DGUOK, TK2
nucleoside biosynthetic process (GO:0009163) 4.972TYMP, TK2
cellular response to chemical stimulus (GO:0070887) 2.572MPV17, POLG
dicarboxylic acid metabolic process (GO:0043648) 5.32SUCLA2, SUCLG1
pyrimidine nucleoside biosynthetic process (GO:0046134) 6.262TYMP, TK2
nucleoside monophosphate metabolic process (GO:0009123) 4.542DGUOK, TK2
localization (GO:0051179) 1.42SLC25A4, OPA1
regulation of apoptotic process (GO:0042981) 2.52RRM2B, OPA1
regulation of cell projection organization (GO:0031344) 3.382DGUOK, OPA1
nucleoside monophosphate biosynthetic process (GO:0009124) 5.262DGUOK, TK2
pyrimidine-containing compound metabolic process (GO:0072527) 5.362TYMP, TK2
negative regulation of cell communication (GO:0010648) 2.662RRM2B, OPA1
regulation of neurogenesis (GO:0050767) 3.212DGUOK, OPA1
organic substance catabolic process (GO:1901575) 2.452TYMP, FBXL4
regulation of intracellular signal transduction (GO:1902531) 2.312RRM2B, OPA1
negative regulation of signal transduction (GO:0009968) 2.752RRM2B, OPA1
regulation of signal transduction (GO:0009966) 1.842RRM2B, OPA1
cellular developmental process (GO:0048869) 1.822TYMP, OPA1
deoxyribonucleoside triphosphate metabolic process (GO:0009200) 6.782RRM2B, DGUOK
cofactor biosynthetic process (GO:0051188) 4.622SUCLA2, AGK
regulation of cell development (GO:0060284) 3.012DGUOK, OPA1
response to organic substance (GO:0010033) 2.22RRM2B, POLG
regulation of neuron differentiation (GO:0045664) 3.392DGUOK, OPA1
deoxyribonucleoside metabolic process (GO:0009120) 7.782DGUOK, TK2
negative regulation of apoptotic process (GO:0043066) 3.042RRM2B, OPA1
single-organism localization (GO:1902578) 2.092SLC25A4, OPA1
protein modification process (GO:0036211) 1.792DGUOK, FBXL4
negative regulation of intracellular signal transduction (GO:1902532) 3.632RRM2B, OPA1
negative regulation of intrinsic apoptotic signaling pathway (GO:2001243) 5.212RRM2B, OPA1
regulation of intrinsic apoptotic signaling pathway (GO:2001242) 4.742RRM2B, OPA1
pyrimidine-containing compound biosynthetic process (GO:0072528) 5.992TYMP, TK2
DNA repair (GO:0006281) 3.592MGME1, RRM2B
regulation of developmental process (GO:0050793) 2.12DGUOK, OPA1
transport (GO:0006810) 1.512SLC25A4, OPA1
carboxylic acid metabolic process (GO:0019752) 3.122SUCLA2, SUCLG1
cellular protein modification process (GO:0006464) 1.792DGUOK, FBXL4
cellular response to DNA damage stimulus (GO:0006974) 3.172MGME1, RRM2B
regulation of cell differentiation (GO:0045595) 2.422DGUOK, OPA1
single-organism transport (GO:0044765) 2.182SLC25A4, OPA1
deoxyribonucleotide metabolic process (GO:0009262) 6.22RRM2B, DGUOK
amide biosynthetic process (GO:0043604) 3.62SLC25A4, AGK
regulation of multicellular organismal process (GO:0051239) 1.872DGUOK, OPA1
oxoacid metabolic process (GO:0043436) 3.122SUCLA2, SUCLG1
establishment of localization (GO:0051234) 1.482SLC25A4, OPA1
catabolic process (GO:0009056) 2.382TYMP, FBXL4
response to oxidative stress (GO:0006979) 3.92RRM2B, MPV17
cellular catabolic process (GO:0044248) 2.622TYMP, FBXL4
system process (GO:0003008) 2.32RRM2B, OPA1
response to oxygen-containing compound (GO:1901700) 2.572MPV17, POLG
cellular response to oxygen-containing compound (GO:1901701) 3.222MPV17, POLG
pyrimidine nucleoside salvage (GO:0043097) 7.242TYMP, TK2
aging (GO:0007568) 4.162OPA1, POLG
organic acid metabolic process (GO:0006082) 3.012SUCLA2, SUCLG1
pyrimidine-containing compound salvage (GO:0008655) 7.242TYMP, TK2
nucleic acid phosphodiester bond hydrolysis (GO:0090305) 4.122MGME1, POLG
nucleoside salvage (GO:0043174) 6.92TYMP, TK2
deoxyribonucleoside monophosphate biosynthetic process (GO:0009157) 7.782DGUOK, TK2
macromolecule modification (GO:0043412) 1.732DGUOK, FBXL4
pyrimidine nucleoside metabolic process (GO:0006213) 5.82TYMP, TK2
succinate metabolic process (GO:0006105) 7.432SUCLA2, SUCLG1
succinyl-CoA metabolic process (GO:0006104) 8.122SUCLA2, SUCLG1
regulation of nervous system development (GO:0051960) 3.12DGUOK, OPA1
regulation of multicellular organismal development (GO:2000026) 2.312DGUOK, OPA1
cellular amide metabolic process (GO:0043603) 3.232SLC25A4, AGK
DNA biosynthetic process (GO:0071897) 4.892TK2, POLG
glycosyl compound biosynthetic process (GO:1901659) 4.952TYMP, TK2

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial DNA metabolic process (GO:0032042) -7.090.0RRM2B, MGME1, TK2, POLG, C10orf2
deoxyribonucleoside monophosphate metabolic process (GO:0009162) -7.430.021DGUOK, TK2
deoxyribonucleoside metabolic process (GO:0009120) -7.780.004DGUOK, TK2
mitochondrion organization (GO:0007005) -3.690.0SLC25A4, OPA1, TYMP, SUCLA2, POLG, C10orf2, MPV17, MGME1
single-organism metabolic process (GO:0044710) -1.630.025TK2, SLC25A4, AGK, MGME1, SUCLG1, C10orf2, SUCLA2, DGUOK, OPA1, RRM2B, TYMP
single-organism biosynthetic process (GO:0044711) -2.80.045AGK, TYMP, C10orf2, DGUOK, TK2, RRM2B
mitochondrial genome maintenance (GO:0000002) -7.160.0MGME1, SLC25A4, TYMP, MPV17
mitochondrial DNA replication (GO:0006264) -7.530.0RRM2B, TK2, MGME1, POLG, C10orf2
DNA replication (GO:0006260) -4.510.0MGME1, POLG, C10orf2, TK2, RRM2B, TYMP
DNA-dependent DNA replication (GO:0006261) -6.290.0RRM2B, MGME1, TK2, POLG, C10orf2
deoxyribonucleoside triphosphate metabolic process (GO:0009200) -6.780.036RRM2B, DGUOK
deoxyribonucleoside monophosphate biosynthetic process (GO:0009157) -7.780.004DGUOK, TK2
nucleobase metabolic process (GO:0009112) NEW6.070.05TYMP, DGUOK, TK2
deoxyribonucleotide metabolic process (GO:0009262) -6.20.005RRM2B, DGUOK, TK2
cellular metabolic compound salvage (GO:0043094) -6.070.005TYMP, DGUOK, TK2
pyrimidine nucleoside salvage (GO:0043097) -7.240.032TYMP, TK2
pyrimidine-containing compound salvage (GO:0008655) -7.240.032TYMP, TK2
organonitrogen compound biosynthetic process (GO:1901566) -2.850.021TYMP, SUCLA2, DGUOK, TK2, AGK
nucleoside salvage (GO:0043174) -6.90.017TYMP, TK2
cellular metabolic process (GO:0044237) -0.690.017TK2, OPA1, SLC25A4, AGK, MGME1, SUCLG1, SUCLA2, POLG, C10orf2, FBXL4, MPV17, DGUOK, RRM2B, TYMP
succinate metabolic process (GO:0006105) -7.430.021SUCLA2, SUCLG1
succinyl-CoA metabolic process (GO:0006104) -8.120.003SUCLA2, SUCLG1
DNA metabolic process (GO:0006259) -3.090.005TYMP, POLG, C10orf2, TK2, RRM2B, MGME1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.2813TK2, SLC25A4, MPV17, MGME1, SUCLG1, POLG, AGK, SUCLA2, DGUOK, OPA1, FBXL4, RRM2B, TYMP
cytoplasmic part (GO:0044444) 0.8213TK2, SLC25A4, MPV17, MGME1, SUCLG1, POLG, AGK, SUCLA2, DGUOK, OPA1, FBXL4, RRM2B, TYMP
cell part (GO:0044464) 0.1113TK2, OPA1, SLC25A4, AGK, TYMP, SUCLG1, POLG, SUCLA2, FBXL4, MPV17, DGUOK, RRM2B, MGME1
intracellular organelle (GO:0043229) 0.5112TK2, OPA1, SLC25A4, AGK, MGME1, SUCLG1, POLG, SUCLA2, FBXL4, MPV17, DGUOK, RRM2B
membrane-bounded organelle (GO:0043227) 0.4712TK2, SLC25A4, MPV17, MGME1, SUCLG1, POLG, AGK, SUCLA2, FBXL4, OPA1, DGUOK, RRM2B
organelle (GO:0043226) 0.412TK2, SLC25A4, MPV17, MGME1, SUCLG1, POLG, AGK, SUCLA2, FBXL4, OPA1, DGUOK, RRM2B
mitochondrion (GO:0005739) 2.4212MPV17, TK2, SLC25A4, AGK, MGME1, SUCLG1, POLG, SUCLA2, FBXL4, OPA1, DGUOK, RRM2B
intracellular membrane-bounded organelle (GO:0043231) 0.612MPV17, TK2, SLC25A4, AGK, MGME1, SUCLG1, POLG, SUCLA2, FBXL4, OPA1, DGUOK, RRM2B
intracellular organelle part (GO:0044446) 0.8111TK2, OPA1, SLC25A4, AGK, SUCLG1, POLG, SUCLA2, FBXL4, MPV17, DGUOK, RRM2B
organelle part (GO:0044422) 0.7911MPV17, TK2, SLC25A4, AGK, SUCLG1, POLG, SUCLA2, FBXL4, OPA1, DGUOK, RRM2B
mitochondrial part (GO:0044429) 2.9210MPV17, TK2, OPA1, SLC25A4, SUCLG1, POLG, SUCLA2, FBXL4, AGK, DGUOK
intracellular organelle lumen (GO:0070013) 3.056OPA1, SUCLG1, SUCLA2, DGUOK, TK2, FBXL4
membrane (GO:0016020) 0.686MPV17, SLC25A4, SUCLG1, AGK, OPA1, RRM2B
membrane-enclosed lumen (GO:0031974) 3.056OPA1, SUCLG1, SUCLA2, DGUOK, TK2, FBXL4
organelle lumen (GO:0043233) 3.056OPA1, SUCLG1, SUCLA2, DGUOK, TK2, FBXL4
cytoplasm (GO:0005737) 1.015DGUOK, RRM2B, FBXL4, SUCLG1, OPA1
organelle membrane (GO:0031090) 1.975OPA1, SUCLG1, SLC25A4, AGK, MPV17
mitochondrial membrane (GO:0031966) 3.315SLC25A4, SUCLG1, MPV17, OPA1, AGK
integral component of membrane (GO:0016021) 1.144RRM2B, SLC25A4, OPA1, MPV17
extracellular organelle (GO:0043230) 1.894RRM2B, SUCLA2, SUCLG1, POLG
vesicle (GO:0031982) 1.644RRM2B, SUCLA2, SUCLG1, POLG
extracellular region part (GO:0044421) 1.574RRM2B, SUCLA2, SUCLG1, POLG
nucleus (GO:0005634) 1.074FBXL4, RRM2B, SLC25A4, DGUOK
organelle inner membrane (GO:0019866) 3.564SLC25A4, SUCLG1, MPV17, OPA1
membrane-bounded vesicle (GO:0031988) 1.714RRM2B, SUCLA2, SUCLG1, POLG
mitochondrial inner membrane (GO:0005743) 3.654OPA1, SLC25A4, SUCLG1, MPV17
mitochondrial matrix (GO:0005759) 4.034SUCLA2, DGUOK, TK2, SUCLG1
membrane part (GO:0044425) 0.954RRM2B, SLC25A4, OPA1, MPV17
extracellular vesicle (GO:1903561) 1.894RRM2B, SUCLA2, SUCLG1, POLG
cytosol (GO:0005829) 1.684DGUOK, TYMP, FBXL4, SUCLG1
intrinsic component of membrane (GO:0031224) 1.134RRM2B, SLC25A4, OPA1, MPV17
extracellular exosome (GO:0070062) 1.894RRM2B, SUCLA2, SUCLG1, POLG
nucleoplasm (GO:0005654) 1.893RRM2B, FBXL4, OPA1
protein complex (GO:0043234) 1.513RRM2B, FBXL4, POLG
nuclear part (GO:0044428) 1.553RRM2B, FBXL4, OPA1
macromolecular complex (GO:0032991) 1.353RRM2B, FBXL4, POLG
catalytic complex (GO:1902494) 2.93RRM2B, FBXL4, POLG
organelle outer membrane (GO:0031968) 4.632OPA1, AGK
bounding membrane of organelle (GO:0098588) 2.392OPA1, AGK
myelin sheath (GO:0043209) 4.762SUCLA2, SLC25A4
organelle envelope lumen (GO:0031970) 5.412FBXL4, OPA1
cell projection part (GO:0044463) 2.972OPA1, POLG
outer membrane (GO:0019867) 4.62OPA1, AGK
neuron part (GO:0097458) 2.642OPA1, POLG
mitochondrial outer membrane (GO:0005741) 4.762OPA1, AGK
transferase complex (GO:1990234) 3.322FBXL4, POLG
axon part (GO:0033267) 4.42OPA1, POLG
mitochondrial intermembrane space (GO:0005758) 5.512FBXL4, OPA1
whole membrane (GO:0098805) 2.852OPA1, AGK

NET-GE enrichment

Term New enriched termICP valueGenes
intracellular organelle lumen (GO:0070013) -3.050.042SUCLA2, DGUOK, TK2, SUCLG1
organelle inner membrane (GO:0019866) -3.560.0TK2, OPA1, SLC25A4, MPV17, SUCLA2, POLG, C10orf2, SUCLG1
mitochondrion (GO:0005739) -2.420.0MPV17, SLC25A4, AGK, MGME1, SUCLG1, C10orf2, POLG, SUCLA2, DGUOK, OPA1
mitochondrial membrane (GO:0031966) -3.310.0MPV17, TK2, OPA1, SLC25A4, AGK, C10orf2, POLG, SUCLA2, SUCLG1
intracellular organelle part (GO:0044446) -0.810.013TK2, SLC25A4, MPV17, SUCLG1, SUCLA2, POLG, AGK, C10orf2, FBXL4, OPA1, DGUOK, RRM2B
mitochondrial inner membrane (GO:0005743) -3.650.0TK2, OPA1, SLC25A4, MPV17, SUCLA2, POLG, C10orf2, SUCLG1
cytoplasmic part (GO:0044444) -0.820.003MPV17, TK2, OPA1, SLC25A4, SUCLG1, MGME1, C10orf2, POLG, SUCLA2, DGUOK, AGK, FBXL4, TYMP
membrane-enclosed lumen (GO:0031974) -3.050.0OPA1, SLC25A4, TK2, C10orf2, SUCLA2, FBXL4, SUCLG1, DGUOK
mitochondrial matrix (GO:0005759) -4.030.0SLC25A4, SUCLG1, C10orf2, SUCLA2, DGUOK, TK2
mitochondrial nucleoid (GO:0042645) NEW6.020.025C10orf2, POLG
nucleoid (GO:0009295) NEW5.970.025C10orf2, POLG
organelle part (GO:0044422) -0.790.018MPV17, TK2, SLC25A4, AGK, SUCLG1, C10orf2, POLG, SUCLA2, FBXL4, OPA1, DGUOK, RRM2B
mitochondrial part (GO:0044429) -2.920.0MPV17, TK2, SLC25A4, AGK, SUCLG1, C10orf2, POLG, SUCLA2, FBXL4, OPA1, DGUOK