Disease table of LEUKODYSTROPHY, HYPOMYELINATING OMIM ID: PS312080

Gene-disease associations table

GeneAssociated with LEUKODYSTROPHY, HYPOMYELINATING inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TUBB4AClinVar, OMIM, HUMSAVARHGNC link19p13.32PS128100, PS312080
POLR3AClinVar, OMIM, HUMSAVARHGNC link10q22.31PS312080
GJC2ClinVar, OMIM, HUMSAVARHGNC link1q42.133PS153100, PS312080, PS303350
HIKESHIClinVar, OMIMHGNC link11q14.21PS312080
VPS11ClinVar, OMIMHGNC link11q23.31PS312080
AIMP1ClinVar, OMIMHGNC link4q241PS312080
HSPD1ClinVar, OMIM, HUMSAVARHGNC link2q33.12PS312080, PS303350
RARSClinVar, OMIM, HUMSAVARHGNC link5q341PS312080
POLR1CClinVar, OMIM, HUMSAVARHGNC link6p21.12PS154500, PS312080
POLR3BClinVar, OMIM, HUMSAVARHGNC link12q23.31PS312080
PYCR2ClinVar, OMIM, HUMSAVARHGNC link1q42.121PS312080
PLP1ClinVar, OMIM, HUMSAVARHGNC linkXq22.22PS312080, PS303350
FAM126AClinVar, OMIM, HUMSAVARHGNC link7p15.31PS312080

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
1q422GJC2, PYCR2
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
1q42GJC2, PYCR2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1q2GJC2, PYCR2
11q2VPS11, HIKESHI
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
112VPS11, HIKESHI
12GJC2, PYCR2
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
GJC2YES1SOX100
HSPD1YES1RUNX30
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TUBB4AAIMP1No1CUL1
TUBB4AHSPD1No12ASB4, METTL20, MCM2, METTL21B, TUBA1C, GAN, CUL3, FBXO6, SNW1, UBL4A, HSPA5, CUL1
TUBB4ARARSNo7NF2, EGFR, CUL1, FBXO6, TUBGCP2, MCM2, CUL3
TUBB4APOLR1CNo3ARRB2, CUL3, TNFAIP1
TUBB4APOLR3BNo1RUVBL1
TUBB4APYCR2No3NF2, CUL3, EGFR
TUBB4APLP1No1CLN8
TUBB4AFAM126ANo1GAN
POLR3AVPS11No2NTRK1, VPS18
POLR3AAIMP1No1NTRK1
POLR3AHSPD1No4NTRK1, HDAC1, RPAP1, PPP2R2C
POLR3ARARSNo1NTRK1
POLR3APOLR1CYes19POLR1D, POLR3D, CRCP, TSR1, POLR3C, POLR3H, POLR3G, POLR3K, POLR1A, SMARCA5, POLR2F, POLR1B, POLR3F, POLR3E, POLR3B, NTRK1, POLR2E, POLR2H, GPN3
POLR3APOLR3BYes32CRCP, POLR3G, MAF1, GPN1, POLR3D, RPAP1, POLR3F, POLR2H, POLR2F, POLR1C, RAE1, POLR3E, POLR3C, IPO9, PPP1CC, GPN3, RPAP2, SKAP1, TSR1, SMARCA5, POLR3K, MRPL17, POLR2A, POLR3H, POLR1A, PPP1CA, POLR1B, PIH1D1, NTRK1, POLR2E, POLR1D, LOC101060521
POLR3APYCR2No1NTRK1
VPS11AIMP1No1NTRK1
VPS11HSPD1No5NTRK1, KRTAP10-3, KRTAP10-8, NXF1, MOV10
VPS11RARSNo1NTRK1
VPS11POLR1CNo1NTRK1
VPS11POLR3BNo3NTRK1, NXF1, MOV10
VPS11PYCR2No1NTRK1
AIMP1HSPD1No7CUL1, PAN2, UBC, COPS5, APP, NTRK1, CCAR2
AIMP1RARSYes21COMTD1, IARS, DARS, GAG, CCAR2, CUL1, RPLP0, EEF1E1, MARS, EPRS, DNAJA1, UBC, QARS, AIMP2, LARS, EIF2S3, NTRK1, EEF1A1, SDCBP, KARS, SDCCAG8
AIMP1POLR1CNo2NTRK1, UBC
AIMP1POLR3BNo1NTRK1
AIMP1PYCR2No2NTRK1, APP
HSPD1RARSNo13STAU1, CUL1, MCM2, CUL3, VCAM1, CCDC8, UBC, GRB2, FBXO6, NTRK1, MYC, HDAC5, CCAR2
HSPD1POLR1CNo7FN1, CLU, UBC, CUL3, NTRK1, C1QBP, LZTS2
HSPD1POLR3BNo4NTRK1, NXF1, RPAP1, MOV10
HSPD1PYCR2No6ICT1, EBNA-LP, VCAM1, APP, NTRK1, CUL3
HSPD1FAM126ANo1GAN
RARSPOLR1CNo3NTRK1, UBC, CUL3
RARSPOLR3BNo1NTRK1
RARSPYCR2No5NTRK1, NF2, VCAM1, EGFR, CUL3
POLR1CPOLR3BYes19SMARCA5, POLR1B, TSR1, CRCP, POLR3H, POLR3G, POLR3E, POLR3K, POLR2F, POLR3D, POLR3C, POLR3F, POLR3A, NTRK1, POLR1A, POLR2E, POLR2H, POLR1D, GPN3
POLR1CPYCR2No2NTRK1, CUL3
POLR3BPYCR2No1NTRK1

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

Interactions from BIOGRID - genetic
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
HSPD1POLR3BNo1KRAS

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

Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
TUBB4APOLR3ANo-2UBC, CDK1
TUBB4AAIMP1No-2UBC, CDK1
TUBB4AHSPD1No-2UBC, TCP1
TUBB4ARARSNo-1UBC
TUBB4APOLR1CNo-1UBC
TUBB4APOLR3BNo-1UBC
TUBB4APYCR2No-1UBC
POLR3AAIMP1No-2UBC, CDK1
POLR3AHSPD1No-1UBC
POLR3ARARSNo-2UBC, CDK7
POLR3APOLR1CYesbinding46GTF3C3, SSB, NFIX, CRCP, TBP, POLR2J, POLR3G, NFIB, SNAPC2, MAF1, POLR3H, POLR2L, POLR3F, GTF3A, POLR2F, POLR2H, NFIA, POU2F1, GTF3C1, SNAPC5, POLR3D, POLR3E, POLR2B, POLR3B, POLR3GL, SNAPC1, GTF3C2, ZNF143, NFIC, GTF3C5, BRF1, POLR2G, SNAPC3, GTF3C4, SUPT5H, POLR3K, BRF2, POLR2D, POLR1B, LZTS1, BDP1, UBC, POLR2E, SNAPC4, POLR1D, POLR2K
POLR3APOLR3BYesbinding45NFIB, SSB, NFIX, CRCP, TBP, POLR3G, GTF3C3, SNAPC2, POLR3H, RAE1, POLR2L, POLR3F, GTF3A, POLR2F, POLR2H, NFIA, POU2F1, POLR1C, SNAPC5, POLR3D, POLR3E, POLR2C, POLR3GL, SNAPC1, GTF3C2, ZNF143, NFIC, GTF3C5, BRF1, POLR2E, SNAPC3, GTF3C4, UBB, SUPT5H, POLR3K, BRF2, MAF1, LZTS1, BDP1, GTF3C1, UBC, POLR2G, SNAPC4, POLR1D, POLR2K
POLR3APYCR2No-1UBC
AIMP1HSPD1Yesbinding2UBC, FARS2
AIMP1RARSYesbinding13MARS2, IARS, DARS, MAPK8, QARS, EEF1E1, MARS, IARS2, LARS, UBC, EPRS, KARS, AIMP2
AIMP1POLR1CNo-1UBC
AIMP1POLR3BNo-1UBC
AIMP1PYCR2No-1UBC
HSPD1RARSNo-2UBC, AIMP1
HSPD1POLR1CNo-1UBC
HSPD1POLR3BNo-1UBC
HSPD1PYCR2No-1UBC
RARSPOLR1CNo-2UBC, CCNH
RARSPOLR3BNo-1UBC
RARSPYCR2No-1UBC
POLR1CPOLR3BYesbinding46NFIB, SSB, NFIX, CRCP, TBP, NME1, POLR3G, GTF3C3, SNAPC2, MAF1, POLR3H, POLR2L, POLR1A, GTF3A, POLR2F, POLR2H, NFIA, POU2F1, GTF3C2, GTF3C1, SNAPC5, POLR3E, POLR3D, POLR3GL, SNAPC1, RRN3, POLR3K, ZNF143, NFIC, POLR3A, BRF1, POLR2G, SNAPC3, GTF3C4, SUPT5H, GTF3C5, BRF2, POLR2A, POLR3F, LZTS1, BDP1, UBC, POLR2E, SNAPC4, POLR1D, POLR2K
POLR1CPYCR2No-1UBC
POLR3BPYCR2No-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
AIMP1RARSYesMultisynthetase complex9EEF1E1, IARS, DARS, QARS, MARS, LARS, EPRS, KARS, AIMP2

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
POLR3APOLR1CYes7CRCP, POLR3H, POLR1A, POLR3C, POLR3B, POLR2H, POLR2E
POLR3APOLR3BYes6CRCP, POLR1C, POLR3H, POLR3D, POLR2H, POLR1D
AIMP1RARSYes9EEF1E1, IARS, DARS, QARS, MARS, LARS, EPRS, KARS, AIMP2
POLR1CPOLR3BYes5POLR3A, POLR3H, POLR2H, CRCP, TSR1

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

Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
AIMP1RARSYes3AIMP1, QARS, RARS

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

Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.494PYCR2, POLR1C, POLR3A, POLR3B
Purine metabolismhsa002305.283POLR1C, POLR3A, POLR3B
RNA polymerasehsa030207.773POLR1C, POLR3A, POLR3B
Epstein-Barr virus infectionhsa051694.973POLR1C, POLR3A, POLR3B
Pyrimidine metabolismhsa002406.013POLR1C, POLR3A, POLR3B
Cytosolic DNA-sensing pathwayhsa046236.793POLR1C, POLR3A, POLR3B

NET-GE enrichment

Term New enriched termICP valueGenes
Aminoacyl-tRNA biosynthesis (hsa00970) NEW7.310.004HSPD1, AIMP1, RARS
Cytosolic DNA-sensing pathway (hsa04623) -6.790.001POLR1C, POLR3A, POLR3B
Nucleotide metabolismNEW5.050.029POLR1C, POLR3A, POLR3B
RNA polymerase (hsa03020) -7.770.0POLR1C, POLR3A, POLR3B
TranscriptionNEW5.070.028POLR1C, POLR3A, POLR3B
Epstein-Barr virus infection (hsa05169) -4.970.035POLR1C, POLR3A, POLR3B
Purine metabolism (hsa00230) -5.280.018HSPD1, POLR1C, POLR3A, POLR3B
Pyrimidine metabolism (hsa00240) -6.010.003HSPD1, POLR1C, POLR3A, POLR3B
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Gene ExpressionR-HSA-741602.725POLR3A, POLR1C, AIMP1, RARS, POLR3B
Immune SystemR-HSA-1682562.374POLR3A, TUBB4A, POLR1C, POLR3B
RNA Polymerase III Transcription InitiationR-HSA-760467.853POLR1C, POLR3A, POLR3B
RNA Polymerase III Chain ElongationR-HSA-737808.813POLR1C, POLR3A, POLR3B
Innate Immune SystemR-HSA-1682493.173POLR1C, POLR3A, POLR3B
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionR-HSA-5040466.163POLR1C, POLR3A, POLR3B
RNA Polymerase III Transcription Initiation From Type 3 PromoterR-HSA-760718.183POLR1C, POLR3A, POLR3B
RNA Polymerase III Abortive And Retractive InitiationR-HSA-7494767.663POLR1C, POLR3A, POLR3B
Cytosolic sensors of pathogen-associated DNA R-HSA-18349496.943POLR1C, POLR3A, POLR3B
RNA Polymerase III Transcription TerminationR-HSA-739808.463POLR1C, POLR3A, POLR3B
RNA Polymerase III Transcription Initiation From Type 2 PromoterR-HSA-760668.283POLR1C, POLR3A, POLR3B
RNA Polymerase III TranscriptionR-HSA-741587.663POLR1C, POLR3A, POLR3B
RNA Polymerase III Transcription Initiation From Type 1 PromoterR-HSA-760618.233POLR1C, POLR3A, POLR3B
Cytosolic tRNA aminoacylationR-HSA-3797168.42AIMP1, RARS
tRNA AminoacylationR-HSA-3797247.592AIMP1, RARS
Gap junction traffickingR-HSA-1908287.592TUBB4A, GJC2
Metabolism of proteinsR-HSA-3924993.412HSPD1, TUBB4A
Membrane TraffickingR-HSA-1999915.262TUBB4A, GJC2
Gap junction trafficking and regulationR-HSA-1578587.522TUBB4A, GJC2
Gap junction assemblyR-HSA-1908618.032TUBB4A, GJC2
Vesicle-mediated transportR-HSA-56536564.332TUBB4A, GJC2

NET-GE enrichment

Term New enriched termICP valueGenes
Cytosolic tRNA aminoacylation (R-HSA-379716) -8.40.024AIMP1, RARS
RNA Polymerase III Transcription Initiation (R-HSA-76046) -7.850.001POLR1C, POLR3A, POLR3B
tRNA Aminoacylation (R-HSA-379724) -7.590.006HSPD1, AIMP1, RARS
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription (R-HSA-504046) -6.160.017HSPD1, POLR1C, POLR3A, POLR3B
RNA Polymerase III Transcription Initiation From Type 2 Promoter (R-HSA-76066) -8.280.0POLR1C, POLR3A, POLR3B
Cytosolic sensors of pathogen-associated DNA (R-HSA-1834949) -6.940.003POLR1C, POLR3A, POLR3B
RNA Polymerase III Abortive And Retractive Initiation (R-HSA-749476) -7.660.004POLR1C, POLR3A, POLR3B
RNA Polymerase III Transcription Initiation From Type 3 Promoter (R-HSA-76071) -8.180.0POLR1C, POLR3A, POLR3B
RNA Polymerase III Transcription Termination (R-HSA-73980) -8.460.001POLR1C, POLR3A, POLR3B
Gap junction assembly (R-HSA-190861) -8.030.04TUBB4A, GJC2
RNA Polymerase III Chain Elongation (R-HSA-73780) -8.810.0POLR1C, POLR3A, POLR3B
RNA Polymerase III Transcription (R-HSA-74158) -7.660.004POLR1C, POLR3A, POLR3B
RNA Polymerase III Transcription Initiation From Type 1 Promoter (R-HSA-76061) -8.230.001POLR1C, POLR3A, POLR3B
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.1810POLR3A, RARS, POLR1C, VPS11, FAM126A, PLP1, POLR3B, HSPD1, TUBB4A, AIMP1
organic cyclic compound binding (GO:0097159) 1.058POLR3A, RARS, POLR1C, VPS11, POLR3B, HSPD1, TUBB4A, AIMP1
heterocyclic compound binding (GO:1901363) 1.068POLR3A, RARS, POLR1C, VPS11, POLR3B, HSPD1, TUBB4A, AIMP1
protein binding (GO:0005515) 0.468RARS, POLR1C, VPS11, FAM126A, PLP1, HSPD1, TUBB4A, AIMP1
catalytic activity (GO:0003824) 1.057POLR3B, RARS, POLR1C, PYCR2, POLR3A, HSPD1, TUBB4A
nucleic acid binding (GO:0003676) 1.446POLR3B, RARS, POLR1C, POLR3A, HSPD1, AIMP1
small molecule binding (GO:0036094) 1.895HSPD1, TUBB4A, POLR3B, RARS, VPS11
carbohydrate derivative binding (GO:0097367) 2.034HSPD1, TUBB4A, RARS, POLR3B
ribonucleoside binding (GO:0032549) 2.224HSPD1, TUBB4A, POLR3B, RARS
ion binding (GO:0043167) 1.364POLR3A, POLR3B, RARS, VPS11
DNA binding (GO:0003677) 1.924HSPD1, POLR1C, POLR3A, POLR3B
nucleotide binding (GO:0000166) 1.964HSPD1, TUBB4A, VPS11, RARS
nucleoside phosphate binding (GO:1901265) 1.964HSPD1, TUBB4A, VPS11, RARS
nucleoside binding (GO:0001882) 2.214HSPD1, TUBB4A, POLR3B, RARS
cation binding (GO:0043169) 1.43POLR3A, VPS11, POLR3B
nucleotidyltransferase activity (GO:0016779) 4.813POLR1C, POLR3A, POLR3B
purine ribonucleoside triphosphate binding (GO:0035639) 2.223HSPD1, TUBB4A, RARS
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.773POLR1C, POLR3A, POLR3B
RNA polymerase activity (GO:0034062) 5.933POLR1C, POLR3A, POLR3B
transferase activity (GO:0016740) 1.953POLR1C, POLR3A, POLR3B
RNA polymerase III activity (GO:0001056) 6.853POLR1C, POLR3A, POLR3B
RNA binding (GO:0003723) 2.363HSPD1, AIMP1, RARS
purine nucleoside binding (GO:0001883) 2.223HSPD1, TUBB4A, RARS
DNA-directed RNA polymerase activity (GO:0003899) 5.983POLR1C, POLR3A, POLR3B
purine ribonucleotide binding (GO:0032555) 2.23HSPD1, TUBB4A, RARS
purine nucleotide binding (GO:0017076) 2.193HSPD1, TUBB4A, RARS
metal ion binding (GO:0046872) 1.413POLR3A, VPS11, POLR3B
purine ribonucleoside binding (GO:0032550) 2.223HSPD1, TUBB4A, RARS
ribonucleotide binding (GO:0032553) 2.193HSPD1, TUBB4A, RARS
hydrolase activity (GO:0016787) 1.92HSPD1, TUBB4A
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032HSPD1, TUBB4A
tRNA binding (GO:0000049) 5.952AIMP1, RARS
adenyl nucleotide binding (GO:0030554) 2.42HSPD1, RARS
nucleoside-triphosphatase activity (GO:0017111) 3.092HSPD1, TUBB4A
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032HSPD1, TUBB4A
enzyme binding (GO:0019899) 2.272HSPD1, AIMP1
structural molecule activity (GO:0005198) 3.12PLP1, TUBB4A
pyrophosphatase activity (GO:0016462) 3.042HSPD1, TUBB4A
adenyl ribonucleotide binding (GO:0032559) 2.412HSPD1, RARS
protein dimerization activity (GO:0046983) 2.722POLR1C, AIMP1
ATP binding (GO:0005524) 2.432HSPD1, RARS

NET-GE enrichment

Term New enriched termICP valueGenes
nucleotidyltransferase activity (GO:0016779) -4.810.013HSPD1, POLR1C, POLR3A, POLR3B
tRNA binding (GO:0000049) -5.950.028HSPD1, AIMP1, RARS
RNA polymerase activity (GO:0034062) -5.930.0HSPD1, POLR1C, POLR3A, POLR3B
aminoacyl-tRNA ligase activity (GO:0004812) NEW5.930.004HSPD1, AIMP1, RARS
DNA-directed RNA polymerase activity (GO:0003899) -5.980.0HSPD1, POLR1C, POLR3A, POLR3B
ligase activity, forming carbon-oxygen bonds (GO:0016875) NEW5.930.005HSPD1, AIMP1, RARS
ligase activity, forming aminoacyl-tRNA and related compounds (GO:0016876) NEW5.930.005HSPD1, AIMP1, RARS
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.2612RARS, GJC2, POLR1C, VPS11, FAM126A, PYCR2, PLP1, POLR3A, HSPD1, TUBB4A, AIMP1, POLR3B
primary metabolic process (GO:0044238) 0.699POLR3A, RARS, POLR1C, FAM126A, HSPD1, PLP1, POLR3B, PYCR2, AIMP1
cellular metabolic process (GO:0044237) 0.699POLR3B, RARS, POLR1C, FAM126A, PYCR2, PLP1, POLR3A, HSPD1, AIMP1
organic substance metabolic process (GO:0071704) 0.639POLR3B, RARS, POLR1C, FAM126A, PYCR2, PLP1, POLR3A, HSPD1, AIMP1
single-organism cellular process (GO:0044763) 0.659GJC2, RARS, VPS11, FAM126A, PYCR2, PLP1, HSPD1, TUBB4A, AIMP1
metabolic process (GO:0008152) 0.589POLR3A, RARS, POLR1C, FAM126A, HSPD1, PLP1, POLR3B, PYCR2, AIMP1
single-organism process (GO:0044699) 0.489GJC2, RARS, VPS11, FAM126A, PYCR2, PLP1, HSPD1, TUBB4A, AIMP1
biological regulation (GO:0065007) 0.398POLR3B, POLR1C, VPS11, FAM126A, PLP1, POLR3A, HSPD1, AIMP1
regulation of biological process (GO:0050789) 0.458POLR3B, POLR1C, VPS11, FAM126A, PLP1, POLR3A, HSPD1, AIMP1
organic substance biosynthetic process (GO:1901576) 1.347POLR3B, RARS, POLR1C, PLP1, POLR3A, PYCR2, AIMP1
response to stimulus (GO:0050896) 1.227POLR3B, GJC2, PYCR2, PLP1, POLR3A, HSPD1, AIMP1
nitrogen compound metabolic process (GO:0006807) 1.137POLR3B, RARS, POLR1C, PYCR2, POLR3A, HSPD1, AIMP1
biosynthetic process (GO:0009058) 1.327POLR3B, RARS, POLR1C, PLP1, POLR3A, PYCR2, AIMP1
cellular biosynthetic process (GO:0044249) 1.377POLR3B, RARS, POLR1C, PLP1, POLR3A, PYCR2, AIMP1
nucleobase-containing compound metabolic process (GO:0006139) 1.356POLR3B, RARS, POLR1C, POLR3A, HSPD1, AIMP1
single-organism metabolic process (GO:0044710) 1.636RARS, FAM126A, PYCR2, PLP1, HSPD1, AIMP1
cellular macromolecule metabolic process (GO:0044260) 0.936POLR3B, RARS, POLR1C, POLR3A, HSPD1, AIMP1
cellular aromatic compound metabolic process (GO:0006725) 1.36POLR3B, RARS, POLR1C, POLR3A, HSPD1, AIMP1
cellular nitrogen compound metabolic process (GO:0034641) 1.226POLR3B, RARS, POLR1C, POLR3A, HSPD1, AIMP1
macromolecule metabolic process (GO:0043170) 0.836POLR3B, RARS, POLR1C, POLR3A, HSPD1, AIMP1
nucleic acid metabolic process (GO:0090304) 1.466POLR3B, RARS, POLR1C, POLR3A, HSPD1, AIMP1
response to stress (GO:0006950) 1.86POLR3B, PYCR2, PLP1, POLR3A, HSPD1, AIMP1
positive regulation of biological process (GO:0048518) 1.26POLR3B, POLR1C, VPS11, PLP1, POLR3A, HSPD1
regulation of cellular process (GO:0050794) 0.56VPS11, FAM126A, PLP1, POLR3A, HSPD1, AIMP1
organic cyclic compound metabolic process (GO:1901360) 1.266POLR3B, RARS, POLR1C, POLR3A, HSPD1, AIMP1
heterocycle metabolic process (GO:0046483) 1.316POLR3B, RARS, POLR1C, POLR3A, HSPD1, AIMP1
RNA metabolic process (GO:0016070) 1.595POLR3A, POLR1C, AIMP1, POLR3B, RARS
macromolecule biosynthetic process (GO:0009059) 1.615POLR3A, POLR1C, AIMP1, POLR3B, RARS
cellular nitrogen compound biosynthetic process (GO:0044271) 1.595POLR1C, AIMP1, RARS, POLR3A, POLR3B
cellular macromolecule biosynthetic process (GO:0034645) 1.665POLR3A, POLR1C, AIMP1, POLR3B, RARS
positive regulation of metabolic process (GO:0009893) 1.744HSPD1, POLR1C, PLP1, VPS11
regulation of metabolic process (GO:0019222) 1.024HSPD1, PLP1, POLR1C, VPS11
carboxylic acid metabolic process (GO:0019752) 3.124PYCR2, PLP1, AIMP1, RARS
signal transduction (GO:0007165) 1.284HSPD1, FAM126A, PLP1, AIMP1
positive regulation of macromolecule metabolic process (GO:0010604) 1.814HSPD1, PLP1, POLR1C, VPS11
positive regulation of multicellular organismal process (GO:0051240) 2.494HSPD1, POLR1C, POLR3A, POLR3B
interspecies interaction between organisms (GO:0044419) 3.084HSPD1, AIMP1, POLR3B, POLR3A
small molecule metabolic process (GO:0044281) 2.384PYCR2, PLP1, AIMP1, RARS
regulation of macromolecule metabolic process (GO:0060255) 1.084HSPD1, PLP1, POLR1C, VPS11
immune effector process (GO:0002252) 3.584HSPD1, AIMP1, POLR3A, POLR3B
defense response (GO:0006952) 2.784PLP1, AIMP1, POLR3B, POLR3A
positive regulation of type I interferon production (GO:0032481) 5.484HSPD1, POLR1C, POLR3A, POLR3B
multi-organism cellular process (GO:0044764) 3.144HSPD1, AIMP1, POLR3B, POLR3A
regulation of multicellular organismal process (GO:0051239) 1.874HSPD1, POLR1C, POLR3A, POLR3B
oxoacid metabolic process (GO:0043436) 3.124PYCR2, PLP1, AIMP1, RARS
multi-organism process (GO:0051704) 2.654HSPD1, AIMP1, POLR3A, POLR3B
organic acid metabolic process (GO:0006082) 3.014PYCR2, PLP1, AIMP1, RARS
immune system process (GO:0002376) 2.294HSPD1, AIMP1, POLR3B, POLR3A
regulation of cytokine production (GO:0001817) 3.44HSPD1, POLR1C, POLR3A, POLR3B
viral process (GO:0016032) 3.154HSPD1, AIMP1, POLR3A, POLR3B
regulation of type I interferon production (GO:0032479) 5.034HSPD1, POLR1C, POLR3A, POLR3B
symbiosis, encompassing mutualism through parasitism (GO:0044403) 3.154HSPD1, AIMP1, POLR3A, POLR3B
positive regulation of cytokine production (GO:0001819) 3.824HSPD1, POLR1C, POLR3A, POLR3B
RNA biosynthetic process (GO:0032774) 1.843POLR1C, POLR3A, POLR3B
nucleobase-containing compound biosynthetic process (GO:0034654) 1.723POLR1C, POLR3A, POLR3B
signaling (GO:0023052) 3.253PLP1, AIMP1, GJC2
response to chemical (GO:0042221) 1.983HSPD1, PYCR2, GJC2
organic cyclic compound biosynthetic process (GO:1901362) 1.663POLR1C, POLR3A, POLR3B
organonitrogen compound biosynthetic process (GO:1901566) 2.853PYCR2, AIMP1, RARS
nucleic acid-templated transcription (GO:0097659) 1.913POLR1C, POLR3A, POLR3B
response to external biotic stimulus (GO:0043207) 3.133AIMP1, POLR3A, POLR3B
response to virus (GO:0009615) 4.213AIMP1, POLR3B, POLR3A
cellular amino acid metabolic process (GO:0006520) 4.223PYCR2, AIMP1, RARS
cellular component organization (GO:0016043) 1.243HSPD1, PLP1, VPS11
cellular component organization or biogenesis (GO:0071840) 1.223HSPD1, PLP1, VPS11
transcription from RNA polymerase III promoter (GO:0006383) 6.123POLR1C, POLR3A, POLR3B
heterocycle biosynthetic process (GO:0018130) 1.73POLR1C, POLR3A, POLR3B
defense response to other organism (GO:0098542) 3.753AIMP1, POLR3B, POLR3A
immune response (GO:0006955) 2.863HSPD1, POLR3A, POLR3B
cell-cell signaling (GO:0007267) 3.353PLP1, AIMP1, GJC2
organonitrogen compound metabolic process (GO:1901564) 2.323PYCR2, AIMP1, RARS
establishment of localization (GO:0051234) 1.483FAM126A, VPS11, GJC2
response to other organism (GO:0051707) 3.483AIMP1, POLR3A, POLR3B
localization (GO:0051179) 1.43FAM126A, VPS11, GJC2
single organism signaling (GO:0044700) 3.253PLP1, AIMP1, GJC2
response to biotic stimulus (GO:0009607) 3.093AIMP1, POLR3B, POLR3A
defense response to virus (GO:0051607) 4.633AIMP1, POLR3A, POLR3B
response to external stimulus (GO:0009605) 2.553AIMP1, POLR3B, POLR3A
protein metabolic process (GO:0019538) 1.453HSPD1, AIMP1, RARS
cell communication (GO:0007154) 3.043PLP1, AIMP1, GJC2
transcription, DNA-templated (GO:0006351) 1.913POLR1C, POLR3A, POLR3B
aromatic compound biosynthetic process (GO:0019438) 1.73POLR1C, POLR3A, POLR3B
positive regulation of cellular process (GO:0048522) 1.33HSPD1, POLR3A, VPS11
regulation of intracellular protein transport (GO:0033157) 3.82POLR3A, VPS11
positive regulation of intracellular transport (GO:0032388) 4.082POLR3A, VPS11
regulation of primary metabolic process (GO:0080090) 1.082HSPD1, VPS11
regulation of cellular localization (GO:0060341) 3.032POLR3A, VPS11
regulation of organelle organization (GO:0033043) 2.722POLR3A, VPS11
regulation of transport (GO:0051049) 2.242POLR3A, VPS11
regulation of intracellular transport (GO:0032386) 3.582POLR3A, VPS11
small molecule biosynthetic process (GO:0044283) 3.792PYCR2, PLP1
regulation of response to stimulus (GO:0048583) 1.542HSPD1, POLR3B
regulation of interferon-beta production (GO:0032648) 5.922POLR3A, POLR3B
regulation of cellular component organization (GO:0051128) 2.012POLR3A, VPS11
regulation of cellular protein localization (GO:1903827) 3.432POLR3A, VPS11
peptide biosynthetic process (GO:0043043) 3.732AIMP1, RARS
regulation of mitochondrion organization (GO:0010821) 4.342POLR3A, VPS11
regulation of protein targeting (GO:1903533) 4.02POLR3A, VPS11
positive regulation of mitochondrion organization (GO:0010822) 4.612POLR3A, VPS11
ncRNA metabolic process (GO:0034660) 3.442AIMP1, RARS
ensheathment of neurons (GO:0007272) 5.482FAM126A, PLP1
regulation of protein transport (GO:0051223) 3.122POLR3A, VPS11
positive regulation of protein transport (GO:0051222) 3.612POLR3A, VPS11
positive regulation of cellular protein localization (GO:1903829) 3.852POLR3A, VPS11
regulation of innate immune response (GO:0045088) 3.862HSPD1, POLR3B
cellular protein metabolic process (GO:0044267) 1.632AIMP1, RARS
single-organism biosynthetic process (GO:0044711) 2.82PYCR2, PLP1
myelination (GO:0042552) 5.522FAM126A, PLP1
positive regulation of gene expression (GO:0010628) 2.352PLP1, POLR1C
regulation of protein metabolic process (GO:0051246) 1.932HSPD1, VPS11
positive regulation of protein metabolic process (GO:0051247) 2.432HSPD1, VPS11
positive regulation of immune system process (GO:0002684) 2.962HSPD1, POLR3B
amide biosynthetic process (GO:0043604) 3.62AIMP1, RARS
regulation of immune system process (GO:0002682) 2.52HSPD1, POLR3B
regulation of defense response (GO:0031347) 3.112HSPD1, POLR3B
positive regulation of interferon-beta production (GO:0032728) 6.292POLR3A, POLR3B
negative regulation of biological process (GO:0048519) 1.332HSPD1, AIMP1
regulation of protein localization (GO:0032880) 2.882POLR3A, VPS11
positive regulation of establishment of protein localization (GO:1904951) 3.492POLR3A, VPS11
developmental process (GO:0032502) 1.362PLP1, AIMP1
regulation of establishment of protein localization (GO:0070201) 3.022POLR3A, VPS11
positive regulation of response to stimulus (GO:0048584) 2.182HSPD1, POLR3B
positive regulation of innate immune response (GO:0045089) 4.222HSPD1, POLR3B
lipid metabolic process (GO:0006629) 2.682FAM126A, PLP1
positive regulation of transport (GO:0051050) 2.92POLR3A, VPS11
establishment of protein localization (GO:0045184) 2.532FAM126A, VPS11
regulation of cellular metabolic process (GO:0031323) 1.072HSPD1, VPS11
innate immune response (GO:0045087) 3.552POLR3A, POLR3B
transport (GO:0006810) 1.512VPS11, GJC2
positive regulation of intracellular protein transport (GO:0090316) 4.192POLR3A, VPS11
single-organism developmental process (GO:0044767) 1.492PLP1, AIMP1
regulation of establishment of protein localization to mitochondrion (GO:1903747) 4.882POLR3A, VPS11
positive regulation of protein targeting to mitochondrion (GO:1903955) 5.262POLR3A, VPS11
regulation of cellular protein metabolic process (GO:0032268) 1.992HSPD1, VPS11
axon ensheathment (GO:0008366) 5.482FAM126A, PLP1
inflammatory response (GO:0006954) 3.642PLP1, AIMP1
cell adhesion (GO:0007155) 2.822HSPD1, AIMP1
cellular lipid metabolic process (GO:0044255) 2.922FAM126A, PLP1
regulation of localization (GO:0032879) 1.942POLR3A, VPS11
positive regulation of immune response (GO:0050778) 3.42HSPD1, POLR3B
positive regulation of establishment of protein localization to mitochondrion (GO:1903749) 4.982POLR3A, VPS11
positive regulation of defense response (GO:0031349) 3.832HSPD1, POLR3B
regulation of immune response (GO:0050776) 2.982HSPD1, POLR3B
regulation of biological quality (GO:0065008) 1.682HSPD1, VPS11
cellular amide metabolic process (GO:0043603) 3.232AIMP1, RARS
carboxylic acid biosynthetic process (GO:0046394) 4.322PYCR2, PLP1
biological adhesion (GO:0022610) 2.812HSPD1, AIMP1
regulation of response to stress (GO:0080134) 2.532HSPD1, POLR3B
regulation of protein stability (GO:0031647) 4.332HSPD1, VPS11
positive regulation of organelle organization (GO:0010638) 3.382POLR3A, VPS11
organic acid biosynthetic process (GO:0016053) 4.262PYCR2, PLP1
positive regulation of cellular metabolic process (GO:0031325) 1.812HSPD1, VPS11
regulation of gene expression (GO:0010468) 1.372PLP1, POLR1C
tRNA metabolic process (GO:0006399) 4.522AIMP1, RARS
amino acid activation (GO:0043038) 5.762AIMP1, RARS
tRNA aminoacylation (GO:0043039) 5.762AIMP1, RARS
regulation of protein targeting to mitochondrion (GO:1903214) 5.142POLR3A, VPS11
tRNA aminoacylation for protein translation (GO:0006418) 5.822AIMP1, RARS
peptide metabolic process (GO:0006518) 3.442AIMP1, RARS
positive regulation of cellular component organization (GO:0051130) 2.682POLR3A, VPS11
translation (GO:0006412) 3.792AIMP1, RARS
negative regulation of cellular process (GO:0048523) 1.412HSPD1, AIMP1
positive regulation of cellular protein metabolic process (GO:0032270) 2.492HSPD1, VPS11

NET-GE enrichment

Term New enriched termICP valueGenes
DNA-templated transcription, termination (GO:0006353) NEW5.120.011POLR1C, POLR3A, POLR3B
positive regulation of type I interferon production (GO:0032481) -5.480.002HSPD1, POLR1C, POLR3A, POLR3B
tRNA aminoacylation for protein translation (GO:0006418) -5.820.015HSPD1, AIMP1, RARS
gene expression (GO:0010467) NEW5.80.026POLR1C, AIMP1, POLR3A, RARS, POLR3B
DNA-templated transcription, elongation (GO:0006354) NEW5.150.014POLR1C, POLR3A, POLR3B
amino acid activation (GO:0043038) -5.760.02HSPD1, AIMP1, RARS
tRNA aminoacylation (GO:0043039) -5.760.02HSPD1, AIMP1, RARS
positive regulation of interferon-beta production (GO:0032728) -6.290.044POLR3A, POLR3B
regulation of type I interferon production (GO:0032479) -5.030.0HSPD1, POLR1C, POLR3A, POLR3B
termination of RNA polymerase III transcription (GO:0006386) NEW9.730.0POLR1C, POLR3A, POLR3B
cytoplasmic transport (GO:0016482) NEW4.980.024RARS, C11orf73, VPS11, POLR3B, HSPD1, TUBB4A, AIMP1
transcription from RNA polymerase III promoter (GO:0006383) -6.120.007POLR1C, POLR3A, POLR3B
positive regulation of cytokine production (GO:0001819) -3.820.012HSPD1, POLR1C, POLR3A, POLR3B
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.1112POLR3A, GJC2, RARS, POLR1C, VPS11, FAM126A, PYCR2, PLP1, POLR3B, HSPD1, TUBB4A, AIMP1
intracellular part (GO:0044424) 0.2810POLR3A, RARS, POLR1C, VPS11, FAM126A, PYCR2, POLR3B, HSPD1, TUBB4A, AIMP1
cytoplasmic part (GO:0044444) 0.8210POLR3A, RARS, POLR1C, VPS11, FAM126A, PYCR2, POLR3B, HSPD1, TUBB4A, AIMP1
intracellular organelle (GO:0043229) 0.519POLR3A, RARS, POLR1C, VPS11, PYCR2, POLR3B, HSPD1, TUBB4A, AIMP1
membrane-bounded organelle (GO:0043227) 0.479POLR3A, RARS, POLR1C, VPS11, PYCR2, POLR3B, HSPD1, TUBB4A, AIMP1
intracellular membrane-bounded organelle (GO:0043231) 0.69POLR3A, RARS, POLR1C, VPS11, PYCR2, POLR3B, HSPD1, TUBB4A, AIMP1
organelle (GO:0043226) 0.49POLR3A, RARS, POLR1C, VPS11, PYCR2, POLR3B, HSPD1, TUBB4A, AIMP1
protein complex (GO:0043234) 1.518POLR3A, GJC2, RARS, POLR1C, VPS11, POLR3B, HSPD1, AIMP1
macromolecular complex (GO:0032991) 1.358POLR3A, GJC2, RARS, POLR1C, VPS11, POLR3B, HSPD1, AIMP1
cytosol (GO:0005829) 1.688POLR3A, RARS, POLR1C, FAM126A, POLR3B, HSPD1, TUBB4A, AIMP1
membrane (GO:0016020) 0.688GJC2, RARS, VPS11, FAM126A, PLP1, POLR3A, HSPD1, AIMP1
intracellular organelle part (GO:0044446) 0.818POLR3A, RARS, POLR1C, VPS11, PYCR2, POLR3B, HSPD1, TUBB4A
organelle part (GO:0044422) 0.798POLR3A, RARS, POLR1C, VPS11, PYCR2, POLR3B, HSPD1, TUBB4A
cytoplasm (GO:0005737) 1.016RARS, FAM126A, PYCR2, HSPD1, TUBB4A, AIMP1
nucleus (GO:0005634) 1.075TUBB4A, AIMP1, POLR1C, POLR3A, POLR3B
nuclear part (GO:0044428) 1.555HSPD1, POLR3A, POLR1C, POLR3B, RARS
vesicle (GO:0031982) 1.645HSPD1, TUBB4A, AIMP1, VPS11, RARS
membrane-bounded vesicle (GO:0031988) 1.715HSPD1, TUBB4A, AIMP1, VPS11, RARS
catalytic complex (GO:1902494) 2.94HSPD1, POLR1C, POLR3A, POLR3B
transferase complex, transferring phosphorus-containing groups (GO:0061695) 4.614HSPD1, POLR1C, POLR3A, POLR3B
nucleoplasm (GO:0005654) 1.894POLR3A, POLR1C, POLR3B, RARS
transferase complex (GO:1990234) 3.324HSPD1, POLR1C, POLR3A, POLR3B
membrane part (GO:0044425) 0.954HSPD1, PLP1, VPS11, GJC2
extracellular region part (GO:0044421) 1.574HSPD1, TUBB4A, AIMP1, RARS
membrane protein complex (GO:0098796) 2.843HSPD1, VPS11, GJC2
extracellular organelle (GO:0043230) 1.893HSPD1, TUBB4A, RARS
RNA polymerase complex (GO:0030880) 5.833POLR1C, POLR3A, POLR3B
nuclear DNA-directed RNA polymerase complex (GO:0055029) 5.873POLR1C, POLR3A, POLR3B
cytoplasmic, membrane-bounded vesicle (GO:0016023) 3.123HSPD1, AIMP1, VPS11
cytoplasmic vesicle (GO:0031410) 2.873HSPD1, AIMP1, VPS11
plasma membrane (GO:0005886) 1.393FAM126A, PLP1, GJC2
DNA-directed RNA polymerase complex (GO:0000428) 5.873POLR1C, POLR3A, POLR3B
mitochondrion (GO:0005739) 2.423HSPD1, PYCR2, RARS
myelin sheath (GO:0043209) 4.763PLP1, TUBB4A, GJC2
nucleoplasm part (GO:0044451) 3.223POLR1C, POLR3A, POLR3B
intracellular vesicle (GO:0097708) 2.863HSPD1, AIMP1, VPS11
DNA-directed RNA polymerase III complex (GO:0005666) 6.913POLR1C, POLR3A, POLR3B
extracellular vesicle (GO:1903561) 1.893HSPD1, TUBB4A, RARS
extracellular exosome (GO:0070062) 1.893HSPD1, TUBB4A, RARS
endosome (GO:0005768) 3.252HSPD1, VPS11
aminoacyl-tRNA synthetase multienzyme complex (GO:0017101) 8.422AIMP1, RARS
supramolecular fiber (GO:0099512) 3.312TUBB4A, VPS11
polymeric cytoskeletal fiber (GO:0099513) 3.312TUBB4A, VPS11
organelle lumen (GO:0043233) 3.052PYCR2, HSPD1
vacuole (GO:0005773) 2.922HSPD1, VPS11
extracellular space (GO:0005615) 2.632HSPD1, AIMP1
integral component of membrane (GO:0016021) 1.142PLP1, GJC2
membrane-enclosed lumen (GO:0031974) 3.052HSPD1, PYCR2
early endosome (GO:0005769) 4.342HSPD1, VPS11
intracellular organelle lumen (GO:0070013) 3.052HSPD1, PYCR2
cytoskeletal part (GO:0044430) 2.492TUBB4A, VPS11
mitochondrial part (GO:0044429) 2.922PYCR2, HSPD1
mitochondrial matrix (GO:0005759) 4.032HSPD1, PYCR2
coated vesicle (GO:0030135) 4.942HSPD1, VPS11
cell surface (GO:0009986) 3.442HSPD1, AIMP1
intrinsic component of membrane (GO:0031224) 1.132PLP1, GJC2
organelle membrane (GO:0031090) 1.972HSPD1, VPS11

NET-GE enrichment

Term New enriched termICP valueGenes
protein complex (GO:0043234) -1.510.022POLR3A, GJC2, RARS, POLR1C, VPS11, POLR3B, HSPD1, TUBB4A, AIMP1
aminoacyl-tRNA synthetase multienzyme complex (GO:0017101) -8.420.0AIMP1, RARS
RNA polymerase complex (GO:0030880) -5.830.0POLR1C, POLR3A, POLR3B
nuclear DNA-directed RNA polymerase complex (GO:0055029) -5.870.0POLR1C, POLR3A, POLR3B
myelin sheath (GO:0043209) -4.760.001PLP, TUBB4A, GJC2
cytosol (GO:0005829) -1.680.007POLR3A, RARS, POLR1C, POLR3B, HSPD1, TUBB4A, AIMP1, C11orf73
DNA-directed RNA polymerase complex (GO:0000428) -5.870.0POLR1C, POLR3A, POLR3B
cis-Golgi network (GO:0005801) NEW6.160.004POLR1C, AIMP1, POLR3B
DNA-directed RNA polymerase III complex (GO:0005666) -6.910.0POLR1C, POLR3A, POLR3B
endosome (GO:0005768) -3.250.025POLR3B, RARS, VPS11, POLR3A, HSPD1, TUBB4A