Disease table of DYSKERATOSIS CONGENITA OMIM ID: PS127550

Gene-disease associations table

GeneAssociated with DYSKERATOSIS CONGENITA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TERTClinVar, OMIM, HUMSAVARHGNC link5p15.335PS127550, 601626, 178500, PS155600, PS614742
ACDOMIM, HUMSAVARHGNC link16q22.11PS127550
TINF2ClinVar, OMIM, HUMSAVARHGNC link14q121PS127550
PARNClinVar, OMIM, HUMSAVARHGNC link16p13.122PS614742, PS127550
TERCClinVar, OMIMHGNC link3q26.23PS614742, 178500, PS127550
NOP10ClinVar, OMIM, HUMSAVARHGNC link15q141PS127550
NHP2ClinVar, OMIM, HUMSAVARHGNC link5q35.31PS127550
WRAP53ClinVar, OMIM, HUMSAVARHGNC link17p13.11PS127550
DKC1ClinVar, OMIM, HUMSAVARHGNC linkXq281PS127550
RTEL1ClinVar, OMIM, HUMSAVARHGNC link20q13.333PS614742, 178500, PS127550

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Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
162PARN, ACD
52TERT, NHP2
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
SP1NO460ITGB3, KRT14, CDK4, UGCG, PGR, GAST, PSIP1, ITGA5, PTHLH, ITGB2, CD44, HLA-G, LTF, IGFBP4, NF1, ACVRL1, GSTP1, CYP2F1, CA9, MMRN1, HSD17B2, STK11, FGFR3, CD28, UGT1A4, FASLG, DNASE2, KRT19, SLC39A1, ALOX5, PDGFB, PTGS2, CYP7A1, TNF, TPMT, HSD11B2, FMR1, CHI3L1, PCK1, DMRT1, RARA, RASSF1, CYP3A7, BRD7, CYP17A1, LPL, CXADR, PADI3, ABCA1, NR5A1, COL11A2, IRF5, XIAP, BACE1, STAR, TBX21, BSG, APP, MDM2, COMP, ALOX12, CHRNB4, SNAP25, MTA1, CCK, DDB2, CIC, ACAN, KIT, MAT2A, SERPINB5, CDH2, ICAM1, SLC29A1, USP7, SLC5A8, HTR1A, REST, IGF2, APOC3, APAF1, ABCG2, IFNGR1, CRMP1, SLC7A5, PDGFC, HNF4A, ATP2C1, MICA, EAPP, TNFRSF10B, KRT5, MACROD1, ERVW-1, CD151, ELF4, MMP28, POLD2, DNMT1, MAOB, CBS, E2F1, KCNQ3, COL18A1, HIST2H4A, RPS3A, IL10, C4A, CYP3A5, ST6GAL1, CD99, BCL2, SLC15A1, IL6, ADAM10, KRT16, POLE2, MUC6, CBFB, ACO1, DCK, CAV1, MIF, DNMT3A, HMGA2, PDIA2, B4GALT1, GJA1, PPL, SLC13A4, AGTR1, PTGIR, CETP, SLC2A2, CYP27A1, F2R, BLMH, ADIPOQ, CENPH, OPRM1, BAG2, MPO, WRN, CDK6, PTTG1, YY1, CD2AP, TBXA2R, TGM4, PRSS50, HSD17B11, HCN2, MYCN, F3, ID4, CDKN1A, SLC5A1, SERPINE1, C1QBP, SOX3, EGR1, TF, RETN, SYP, RORA, NDUFV1, C4B, SNAPC1, TGFBR2, MME, GATA3, DPYSL2, CXCL14, SPRY2, ABCB8, COX4I1, SCTR, UGDH, HBEGF, PLAT, FOS, XPC, MUC5AC, HYAL1, BRCA1, NOS1, KCTD11, HCN4, ASPN, OXTR, COL1A1, TLR2, ALOX15B, ITGAV, IL5, SLC9A2, SIRT1, FGL2, KLF8, KCNQ2, UGT2B15, FOXM1, TEC, CHST4, TINF2, SLC19A3, KIF2C, ADAM23, PTGES, DNMT3B, GCLC, THBD, GFER, ADRBK1, TGFB1, SLC25A20, TK1, PRM1, CXCL1, APOE, PDE6A, TICAM1, KCNH2, TERF2, CENPW, NFKB1, ITGA2, PCYT1A, SIGIRR, IRS2, SP3, GIPR, SCNN1B, PTN, PTEN, NDUFV2, INSR, AGT, ME1, ATP2A2, HAS2, CYP19A1, HTT, MAT2B, PRNP, MNDA, SLC9A3, ADAM17, BAX, SLC3A2, UTRN, SPN, PAX6, SMARCA1, IL2, CREM, MMP9, ENG, CHGA, MUC4, ESR1, AHR, ATM, NFKB2, COL7A1, CD97, EPO, TFPI2, POR, DRG2, ELMO3, CAT, CYP3A4, LOXL4, BDKRB1, WAS, PNOC, LDHC, ADH6, CDC42BPG, NKX2-1, CYP1B1, TAF7, PLAUR, MMP2, MMP11, APLNR, UBC, GM2A, FGFR1, PLAA, TIMP1, TNFSF14, PTK6, KISS1, CDKN2B, COL2A1, BTK, ITGAX, HBZ, CREB1, MMP14, MICB, LEP, FOLR1, ATP2A3, SNRPN, ADA, PSEN1, SPP1, TNNI3, NOL7, VEGFA, CSNK2A1, VAMP2, NQO2, LOR, EPOR, HSD3B1, ISG20, MET, F10, CD1D, FBLN1, APLP1, CCL5, FAS, ERBB2, COPS5, MYBL1, RECQL4, CD83, SOD1, HOXB7, WIF1, SLC39A8, CES1, IL5RA, APEX1, ITGAD, TNC, KDR, CLDN3, NR4A1, MYC, RELA, RECK, PGLYRP2, LRP5, MYBL2, ADRA2B, VIM, EGFR, GDA, SOD2, FES, LDHA, CD14, AMACR, IGFBP1, SLC19A1, IMPDH2, PDE6B, LCAT, PPP2R2B, FBN1, CERS2, EPAS1, KLK3, FLNA, CCL2, HMGA1, BACE2, EDNRB, FABP6, HPR, IGFBP3, PON1, APOA1, NPY, B4GALT5, FXR2, CCND2, STARD3, IL2RB, DDB1, SQSTM1, TERT, HGF, TNFSF10, KRT18, TYMP, MUC2, MPG, ABCC3, HDAC4, TCN2, TYMS, DBF4, CASP3, SGPL1, GH2, EGF, CCND1, GPR39, IVL, AR, NT5E, LYZ, SMPD1, PHGDH, CDKN2A, MGST1, CCNA2, POLD1, NOS3, ABCB1, DHCR24, LDLR, HSD17B1, SOCS1, FBP1, LTC4S, CTSL, BIRC5, HRAS, PDHA1, TIMP2, P4HA1, TMPO, ARF6, CDKN1B, SLC31A1, SOX9, PLAU, RGN, CTSB, EZR, TIMP3, F7, SREBF1, SKP2, SCT, VDR, ADRB3, CXCL5, LMO4, CD163, MCTS1, ATF2, CTGF, SRC, P2RX4, TGFA, IL3, CYP7B1, ADRA1A, GRIN1, SRY, ODC12TINF2, TERT
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
TERTYES30CTCF, MZF1, ETS2, MXD1, USF2, SP1, ID2, TAL1, SMAD3, DNMT1, E2F1, WT1, ESR2, HDAC1, JUN, TP53, RELA, NFKB1, TP73, ETS1, HIF1A, STAT3, MEN1, NFATC2, FLI1, USF1, ESR1, MYC, PITX1, MYCN0
TINF2YES1SP10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TERTACDNo4XRCC6, TERF1, POT1, STUB1
TERTTINF2No5XRCC6, TPP1, TERF1, POT1, STUB1
TERTTERCYes3RUVBL1, RUVBL2, DKC1
TERTNOP10No1DKC1
TERTNHP2No2DKC1, TERC
TERTWRAP53No3PTGES3, CCT5, DKC1
TERTDKC1Yes5RUVBL2, PTGES3, DKC1, TERC, RUVBL1
TERTRTEL1No1XRCC5
ACDTINF2Yes44HSP90AB1, ANXA8L1, ACTB, EIF4B, TERF1, PGM2, TRIM16, TERF2IP, ANKMY2, FKBP6, STUB1, ZFP36L1, TUBB4B, AIPL1, CTTN, LDHA, RPSA, PEX5, TRIM15, BAG3, PFKP, TOMM34, TINF2, PAGE2, DBN1, POT1, GAPDH, TERF2, DCX, LGALSL, LASP1, NUDC, SULT1C2, CKB, IPO5, ENO2, NUDCD2, XRCC6, AFAP1L2, APOBEC3F, TAGLN, NCDN, FAM131B, ZNF790
ACDNHP2No1XPO1
ACDDKC1No3TERF2, RPSA, XPO1
TINF2DKC1No2TERF2, RPSA
PARNNHP2No1HIST1H1A
PARNDKC1No1HIST1H1A
TERCNOP10No3GAR1, DKC1, NHP2
TERCNHP2Yes2GAR1, DKC1
TERCWRAP53No2GAR1, DKC1
TERCDKC1Yes6RUVBL1, RUVBL2, DKC1, NHP2, TERT, GAR1
NOP10NHP2Yes8WDR48, DKC1, NHP2L1, GAR1, LIN28A, BMI1, LIN28B, NAF1
NOP10WRAP53No3NHP2L1, GAR1, DKC1
NOP10DKC1Yes13WDR48, GAR1, DKC1, NHP2L1, NHP2, ARRB2, SYNCRIP, LIN28A, NOP56, ARRB1, BMI1, ZC3H3, NAF1
NHP2WRAP53No3NHP2L1, GAR1, DKC1
NHP2DKC1Yes19WDR48, RNF2, NOP58, TERC, DKC1, FBL, NOL12, NHP2L1, SUZ12, EIF5B, CAND1, LIN28A, HIST1H1A, XPO1, BMI1, GAR1, NOP10, IFI16, NAF1
WRAP53DKC1Yes4PTGES3, GAR1, NHP2L1, DKC1

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
TERTACDYesbinding2TERF1, POT1
TERTTINF2No-4ACD, TERF1, POT1, TNKS
TERTPARNNo-1UBC
TERTNOP10No-1NHP2
TERTNHP2Yesactivation, binding1UBC
TERTWRAP53Yesactivation, binding1TP53
ACDTINF2Yesbinding19STAG3, SYCP3, STAG2, STAG1, SYCP2, POT1, LMNB1, SYNE1, TERF1, SMC1B, TERF2, SMC3, TERF2IP, SUN1, REC8, SYNE2, HIST3H3, RAD21, SUN2
ACDNHP2No-1TERT
ACDWRAP53No-1TERT
PARNNHP2No-1UBC
NOP10NHP2Yesbinding6SHQ1, FBL, MKI67IP, TRUB1, GAR1, NAF1
NHP2WRAP53No-1TERT

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
ACDTINF2YesTRF1-TIN2 complex;Rap1 complex;TIN2 complex;Telosome complex5TERF2IP, RAD50, TERF2, TERF1, POT1

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
NHP2DKC1Yes2GAR1, NOP58
WRAP53DKC1No1PTGES3

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

Interactions from PDB
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
Ribosome biogenesis in eukaryoteshsa030086.543NOP10, DKC1, NHP2

NET-GE enrichment

Term New enriched termICP valueGenes
Ribosome biogenesis in eukaryotes (hsa03008) -6.540.0NOP10, DKC1, NHP2
Genetic Information ProcessingNEW2.480.04NOP10, NHP2, PARN, DKC1
TranslationNEW3.910.024NOP10, DKC1, NHP2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Cell CycleR-HSA-16401703.896TINF2, DKC1, ACD, WRAP53, NHP2, TERT
Chromosome MaintenanceR-HSA-738866.566TINF2, DKC1, ACD, WRAP53, NHP2, TERT
Telomere MaintenanceR-HSA-1575797.16TINF2, DKC1, ACD, WRAP53, NHP2, TERT
Telomere Extension By TelomeraseR-HSA-17131910.44WRAP53, NHP2, TERT, DKC1
Extension of TelomeresR-HSA-1807868.124WRAP53, NHP2, TERT, DKC1
DNA Damage/Telomere Stress Induced SenescenceR-HSA-25595867.152TINF2, ACD
Cellular SenescenceR-HSA-25595835.72TINF2, ACD
Cellular responses to stressR-HSA-22627524.562TINF2, ACD
MeiosisR-HSA-15006206.592TINF2, ACD
Meiotic synapsisR-HSA-12216327.182TINF2, ACD
Packaging Of Telomere EndsR-HSA-1713068.082TINF2, ACD

NET-GE enrichment

Term New enriched termICP valueGenes
DNA Damage/Telomere Stress Induced Senescence (R-HSA-2559586) -7.150.036TINF2, ACD
Telomere Maintenance (R-HSA-157579) -7.10.0TINF2, DKC1, ACD, WRAP53, NHP2, TERT
Extension of Telomeres (R-HSA-180786) -8.120.0WRAP53, NHP2, TERT, DKC1
Telomere Extension By Telomerase (R-HSA-171319) -10.40.0WRAP53, NHP2, TERT, DKC1
Packaging Of Telomere Ends (R-HSA-171306) -8.080.016TINF2, ACD
Meiotic synapsis (R-HSA-1221632) -7.180.035TINF2, ACD
Cell Cycle (R-HSA-1640170) -3.890.0TINF2, DKC1, ACD, WRAP53, NHP2, TERT
Chromosome Maintenance (R-HSA-73886) -6.560.0TINF2, DKC1, ACD, WRAP53, NHP2, TERT
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein binding (GO:0005515) 0.469TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
organic cyclic compound binding (GO:0097159) 1.059TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
heterocyclic compound binding (GO:1901363) 1.069TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
nucleic acid binding (GO:0003676) 1.449TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
binding (GO:0005488) 0.189TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
RNA binding (GO:0003723) 2.366WRAP53, DKC1, PARN, NHP2, TERT, NOP10
telomerase RNA binding (GO:0070034) 7.15WRAP53, NOP10, NHP2, TERT, DKC1
catalytic activity (GO:0003824) 1.054RTEL1, TERT, PARN, DKC1
DNA binding (GO:0003677) 1.924ACD, TINF2, RTEL1, TERT
cation binding (GO:0043169) 1.43RTEL1, TERT, PARN
sequence-specific DNA binding (GO:0043565) 2.793TINF2, ACD, TERT
telomeric DNA binding (GO:0042162) 6.343TINF2, ACD, TERT
poly(A) RNA binding (GO:0044822) 2.693NHP2, PARN, DKC1
ion binding (GO:0043167) 1.363RTEL1, TERT, PARN
box H/ACA snoRNA binding (GO:0034513) 8.353NOP10, DKC1, NHP2
snoRNA binding (GO:0030515) 6.413NOP10, DKC1, NHP2
metal ion binding (GO:0046872) 1.413RTEL1, TERT, PARN
hydrolase activity (GO:0016787) 1.92RTEL1, PARN
nucleotidyltransferase activity (GO:0016779) 4.812DKC1, TERT
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772DKC1, TERT
DNA polymerase activity (GO:0034061) 5.932DKC1, TERT
nucleotide binding (GO:0000166) 1.962RTEL1, PARN
small molecule binding (GO:0036094) 1.892RTEL1, PARN
transferase activity (GO:0016740) 1.952DKC1, TERT
macromolecular complex binding (GO:0044877) 2.612WRAP53, ACD
enzyme binding (GO:0019899) 2.272ACD, PARN
telomerase activity (GO:0003720) 7.792DKC1, TERT
RNA-directed DNA polymerase activity (GO:0003964) 6.852DKC1, TERT
nucleoside phosphate binding (GO:1901265) 1.962RTEL1, PARN

NET-GE enrichment

Term New enriched termICP valueGenes
telomerase activity (GO:0003720) -7.790.0DKC1, TERT
telomeric DNA binding (GO:0042162) -6.340.01TINF2, TERT
DNA polymerase activity (GO:0034061) -5.930.022DKC1, TERT
RNA binding (GO:0003723) -2.360.002TINF2, DKC1, PARN, WRAP53, NHP2, TERT, NOP10
nucleic acid binding (GO:0003676) -1.440.0TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
RNA-directed DNA polymerase activity (GO:0003964) -6.850.004DKC1, TERT
snoRNA binding (GO:0030515) -6.410.004NOP10, NHP2
organic cyclic compound binding (GO:0097159) -1.050.008TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
heterocyclic compound binding (GO:1901363) -1.060.008TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.699TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
cellular macromolecule metabolic process (GO:0044260) 0.939TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
nucleobase-containing compound metabolic process (GO:0006139) 1.359TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
cellular process (GO:0009987) 0.269TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
cellular aromatic compound metabolic process (GO:0006725) 1.39TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
cellular metabolic process (GO:0044237) 0.699TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
macromolecule metabolic process (GO:0043170) 0.839TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
nucleic acid metabolic process (GO:0090304) 1.469TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
organic substance metabolic process (GO:0071704) 0.639TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
cellular nitrogen compound metabolic process (GO:0034641) 1.229TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
nitrogen compound metabolic process (GO:0006807) 1.139TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
biological regulation (GO:0065007) 0.399TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
metabolic process (GO:0008152) 0.589TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
regulation of biological quality (GO:0065008) 1.689TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
regulation of biological process (GO:0050789) 0.459TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
organic cyclic compound metabolic process (GO:1901360) 1.269TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
heterocycle metabolic process (GO:0046483) 1.319TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
organelle organization (GO:0006996) 2.028TINF2, DKC1, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
telomere maintenance (GO:0000723) 5.378TINF2, DKC1, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
chromosome organization (GO:0051276) 3.798TINF2, DKC1, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
anatomical structure homeostasis (GO:0060249) 4.258TINF2, DKC1, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
telomere organization (GO:0032200) 5.338TINF2, DKC1, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
cellular component organization (GO:0016043) 1.248TINF2, DKC1, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
homeostatic process (GO:0042592) 2.618TINF2, DKC1, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
positive regulation of biological process (GO:0048518) 1.28TINF2, DKC1, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
DNA metabolic process (GO:0006259) 3.098TINF2, DKC1, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
cellular component organization or biogenesis (GO:0071840) 1.228TINF2, DKC1, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
organic substance biosynthetic process (GO:1901576) 1.347WRAP53, DKC1, RTEL1, ACD, NHP2, TERT, NOP10
regulation of metabolic process (GO:0019222) 1.027TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, TERT
regulation of macromolecule metabolic process (GO:0060255) 1.087TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, TERT
cellular biosynthetic process (GO:0044249) 1.377WRAP53, DKC1, RTEL1, ACD, NHP2, TERT, NOP10
biosynthetic process (GO:0009058) 1.327WRAP53, DKC1, RTEL1, ACD, NHP2, TERT, NOP10
macromolecule biosynthetic process (GO:0009059) 1.617WRAP53, DKC1, RTEL1, ACD, NHP2, TERT, NOP10
telomere maintenance via telomere lengthening (GO:0010833) 6.647TINF2, DKC1, ACD, WRAP53, NHP2, TERT, NOP10
cellular macromolecule biosynthetic process (GO:0034645) 1.667WRAP53, DKC1, RTEL1, ACD, NHP2, TERT, NOP10
positive regulation of macromolecule metabolic process (GO:0010604) 1.816TINF2, DKC1, ACD, RTEL1, WRAP53, TERT
RNA-dependent DNA biosynthetic process (GO:0006278) 6.266WRAP53, DKC1, ACD, NHP2, TERT, NOP10
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.356TINF2, DKC1, ACD, RTEL1, WRAP53, TERT
positive regulation of metabolic process (GO:0009893) 1.746TINF2, DKC1, RTEL1, ACD, WRAP53, TERT
aromatic compound biosynthetic process (GO:0019438) 1.76WRAP53, DKC1, ACD, NHP2, TERT, NOP10
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.436TINF2, DKC1, RTEL1, ACD, WRAP53, TERT
regulation of cellular metabolic process (GO:0031323) 1.076TINF2, DKC1, RTEL1, ACD, WRAP53, TERT
positive regulation of cellular metabolic process (GO:0031325) 1.816TINF2, DKC1, ACD, RTEL1, WRAP53, TERT
regulation of primary metabolic process (GO:0080090) 1.086TINF2, DKC1, ACD, RTEL1, WRAP53, TERT
heterocycle biosynthetic process (GO:0018130) 1.76WRAP53, DKC1, ACD, NHP2, TERT, NOP10
regulation of cellular process (GO:0050794) 0.56TINF2, DKC1, RTEL1, ACD, WRAP53, TERT
regulation of nitrogen compound metabolic process (GO:0051171) 1.366TINF2, DKC1, ACD, RTEL1, WRAP53, TERT
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.296TINF2, DKC1, ACD, RTEL1, WRAP53, TERT
nucleobase-containing compound biosynthetic process (GO:0034654) 1.726WRAP53, DKC1, ACD, NHP2, TERT, NOP10
cellular nitrogen compound biosynthetic process (GO:0044271) 1.596WRAP53, DKC1, ACD, NHP2, TERT, NOP10
positive regulation of cellular process (GO:0048522) 1.36TINF2, DKC1, RTEL1, ACD, WRAP53, TERT
organic cyclic compound biosynthetic process (GO:1901362) 1.666WRAP53, DKC1, ACD, NHP2, TERT, NOP10
DNA biosynthetic process (GO:0071897) 4.896WRAP53, DKC1, ACD, NHP2, TERT, NOP10
telomere maintenance via telomerase (GO:0007004) 6.96WRAP53, DKC1, ACD, NHP2, TERT, NOP10
regulation of chromosome organization (GO:0033044) 4.115RTEL1, TINF2, ACD, WRAP53, DKC1
regulation of organelle organization (GO:0033043) 2.725ACD, TINF2, RTEL1, WRAP53, DKC1
regulation of cellular biosynthetic process (GO:0031326) 1.385TINF2, WRAP53, ACD, TERT, DKC1
positive regulation of homeostatic process (GO:0032846) 4.385RTEL1, TINF2, ACD, WRAP53, DKC1
regulation of cellular component organization (GO:0051128) 2.015RTEL1, TINF2, ACD, WRAP53, DKC1
single-organism process (GO:0044699) 0.485ACD, TERT, RTEL1, DKC1, PARN
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.465TINF2, ACD, WRAP53, TERT, DKC1
regulation of molecular function (GO:0065009) 1.785TINF2, ACD, WRAP53, TERT, DKC1
positive regulation of cellular component organization (GO:0051130) 2.685ACD, TINF2, RTEL1, WRAP53, DKC1
positive regulation of DNA metabolic process (GO:0051054) 4.495ACD, TINF2, RTEL1, WRAP53, DKC1
regulation of DNA metabolic process (GO:0051052) 3.875ACD, TINF2, RTEL1, WRAP53, DKC1
regulation of telomere maintenance via telomere lengthening (GO:1904356) 5.825ACD, TINF2, RTEL1, WRAP53, DKC1
regulation of catalytic activity (GO:0050790) 1.975TINF2, WRAP53, ACD, TERT, DKC1
regulation of biosynthetic process (GO:0009889) 1.375TINF2, ACD, WRAP53, TERT, DKC1
regulation of localization (GO:0032879) 1.945WRAP53, NOP10, NHP2, TERT, DKC1
RNA metabolic process (GO:0016070) 1.595NHP2, NOP10, TERT, PARN, DKC1
regulation of homeostatic process (GO:0032844) 3.655ACD, TINF2, RTEL1, WRAP53, DKC1
regulation of telomere maintenance (GO:0032204) 5.545ACD, TINF2, RTEL1, WRAP53, DKC1
positive regulation of telomere maintenance (GO:0032206) 5.95ACD, TINF2, RTEL1, WRAP53, DKC1
positive regulation of organelle organization (GO:0010638) 3.385RTEL1, TINF2, ACD, WRAP53, DKC1
regulation of macromolecule biosynthetic process (GO:0010556) 1.435TINF2, ACD, WRAP53, TERT, DKC1
positive regulation of chromosome organization (GO:2001252) 4.765ACD, TINF2, RTEL1, WRAP53, DKC1
cellular component assembly (GO:0022607) 2.144TINF2, ACD, WRAP53, TERT
negative regulation of metabolic process (GO:0009892) 1.934ACD, TINF2, RTEL1, TERT
positive regulation of biosynthetic process (GO:0009891) 2.294WRAP53, ACD, DKC1, TERT
negative regulation of cellular metabolic process (GO:0031324) 2.014ACD, TINF2, RTEL1, TERT
RNA modification (GO:0009451) 4.944NOP10, NHP2, PARN, DKC1
positive regulation of catalytic activity (GO:0043085) 2.44WRAP53, ACD, DKC1, TERT
negative regulation of macromolecule metabolic process (GO:0010605) 2.014ACD, TINF2, RTEL1, TERT
positive regulation of cellular biosynthetic process (GO:0031328) 2.34WRAP53, ACD, DKC1, TERT
regulation of telomere maintenance via telomerase (GO:0032210) 5.924TINF2, ACD, WRAP53, DKC1
positive regulation of molecular function (GO:0044093) 2.234WRAP53, ACD, DKC1, TERT
negative regulation of biological process (GO:0048519) 1.334ACD, TINF2, RTEL1, TERT
regulation of telomerase activity (GO:0051972) 5.974TINF2, ACD, WRAP53, DKC1
positive regulation of telomere maintenance via telomere lengthening (GO:1904358) 6.234ACD, WRAP53, RTEL1, DKC1
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.554ACD, TINF2, RTEL1, TERT
regulation of DNA biosynthetic process (GO:2000278) 5.174TINF2, ACD, WRAP53, DKC1
macromolecule modification (GO:0043412) 1.734NOP10, NHP2, DKC1, PARN
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.474ACD, TINF2, RTEL1, TERT
localization (GO:0051179) 1.44TINF2, ACD, WRAP53, TERT
regulation of transferase activity (GO:0051338) 2.884TINF2, ACD, WRAP53, DKC1
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.394WRAP53, ACD, TERT, DKC1
negative regulation of cellular process (GO:0048523) 1.414ACD, TINF2, RTEL1, TERT
RNA processing (GO:0006396) 3.014NOP10, NHP2, TERT, DKC1
protein localization (GO:0008104) 2.363TINF2, ACD, WRAP53
regulation of cellular localization (GO:0060341) 3.033WRAP53, DKC1, TERT
rRNA pseudouridine synthesis (GO:0031118) 8.343NOP10, DKC1, NHP2
negative regulation of cellular component organization (GO:0051129) 3.353ACD, TINF2, RTEL1
regulation of cellular protein localization (GO:1903827) 3.433WRAP53, DKC1, TERT
positive regulation of telomerase RNA localization to Cajal body (GO:1904874) 7.023NOP10, DKC1, NHP2
regulation of telomerase RNA localization to Cajal body (GO:1904872) 7.023NOP10, DKC1, NHP2
ncRNA metabolic process (GO:0034660) 3.443NOP10, DKC1, NHP2
pseudouridine synthesis (GO:0001522) 6.93NOP10, DKC1, NHP2
positive regulation of cellular protein localization (GO:1903829) 3.853WRAP53, DKC1, TERT
regulation of protein localization (GO:0032880) 2.883WRAP53, DKC1, TERT
ncRNA processing (GO:0034470) 3.773NOP10, DKC1, NHP2
cellular response to stimulus (GO:0051716) 1.973ACD, RTEL1, TERT
positive regulation of transferase activity (GO:0051347) 3.313WRAP53, ACD, DKC1
cellular macromolecule localization (GO:0070727) 3.13TINF2, ACD, WRAP53
positive regulation of telomere maintenance via telomerase (GO:0032212) 6.263WRAP53, ACD, DKC1
ribosome biogenesis (GO:0042254) 5.273NOP10, DKC1, NHP2
rRNA processing (GO:0006364) 4.213NOP10, DKC1, NHP2
ribonucleoprotein complex biogenesis (GO:0022613) 5.033NOP10, DKC1, NHP2
macromolecule localization (GO:0033036) 2.343TINF2, ACD, WRAP53
regulation of gene expression (GO:0010468) 1.373TERT, PARN, DKC1
positive regulation of telomerase activity (GO:0051973) 6.43WRAP53, ACD, DKC1
establishment of protein localization to telomere (GO:0070200) 7.943WRAP53, ACD, TERT
negative regulation of DNA metabolic process (GO:0051053) 4.983ACD, TINF2, RTEL1
establishment of protein localization to organelle (GO:0072594) 3.923WRAP53, ACD, TERT
cellular protein localization (GO:0034613) 3.113TINF2, ACD, WRAP53
establishment of protein localization (GO:0045184) 2.533WRAP53, ACD, TERT
response to stress (GO:0006950) 1.83ACD, RTEL1, TERT
negative regulation of homeostatic process (GO:0032845) 4.913ACD, TINF2, RTEL1
establishment of localization (GO:0051234) 1.483WRAP53, ACD, TERT
cellular localization (GO:0051641) 2.323TINF2, ACD, WRAP53
rRNA metabolic process (GO:0016072) 4.193NOP10, DKC1, NHP2
positive regulation of DNA biosynthetic process (GO:2000573) 5.653WRAP53, ACD, DKC1
rRNA modification (GO:0000154) 6.473NOP10, DKC1, NHP2
response to stimulus (GO:0050896) 1.223ACD, RTEL1, TERT
negative regulation of organelle organization (GO:0010639) 4.073ACD, TINF2, RTEL1
establishment of protein localization to chromosome (GO:0070199) 7.163WRAP53, ACD, TERT
telomere assembly (GO:0032202) 8.343TINF2, ACD, WRAP53
negative regulation of telomere maintenance (GO:0032205) 6.473ACD, TINF2, RTEL1
cellular component biogenesis (GO:0044085) 4.463NOP10, DKC1, NHP2
cellular response to stress (GO:0033554) 2.513ACD, RTEL1, TERT
protein localization to organelle (GO:0033365) 3.573TINF2, ACD, WRAP53
negative regulation of chromosome organization (GO:2001251) 5.173ACD, TINF2, RTEL1
regulation of cell proliferation (GO:0042127) 2.412TINF2, TERT
regulation of binding (GO:0051098) 4.082ACD, TERT
negative regulation of biosynthetic process (GO:0009890) 2.472TINF2, ACD
negative regulation of cellular biosynthetic process (GO:0031327) 2.492TINF2, ACD
telomere capping (GO:0016233) 7.432TINF2, ACD
negative regulation of response to stimulus (GO:0048585) 2.522RTEL1, TERT
regulation of response to stimulus (GO:0048583) 1.542RTEL1, TERT
positive regulation of establishment of protein localization to telomere (GO:1904851) 7.532WRAP53, DKC1
nucleic acid phosphodiester bond hydrolysis (GO:0090305) 4.122NHP2, PARN
positive regulation of protein localization to chromosome, telomeric region (GO:1904816) 7.242WRAP53, DKC1
regulation of protein localization to chromosome, telomeric region (GO:1904814) 7.092WRAP53, DKC1
telomere maintenance in response to DNA damage (GO:0043247) 7.652ACD, RTEL1
positive regulation of establishment of protein localization (GO:1904951) 3.492WRAP53, DKC1
protein localization to chromosome (GO:0034502) 6.22TINF2, ACD
regulation of RNA stability (GO:0043487) 4.782DKC1, PARN
posttranscriptional regulation of gene expression (GO:0010608) 3.642DKC1, PARN
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62TINF2, ACD
negative regulation of telomere maintenance via telomerase (GO:0032211) 7.242TINF2, ACD
regulation of establishment of protein localization to telomere (GO:0070203) 7.432WRAP53, DKC1
regulation of establishment of protein localization to chromosome (GO:0070202) 7.332WRAP53, DKC1
regulation of establishment of protein localization (GO:0070201) 3.022WRAP53, DKC1
negative regulation of DNA biosynthetic process (GO:2000279) 6.232TINF2, ACD
negative regulation of telomere maintenance via telomere lengthening (GO:1904357) 6.962TINF2, ACD
snRNA pseudouridine synthesis (GO:0031120) 9.042DKC1, NHP2
cellular response to DNA damage stimulus (GO:0006974) 3.172ACD, RTEL1
RNA phosphodiester bond hydrolysis (GO:0090501) 4.832NHP2, PARN
single-organism cellular process (GO:0044763) 0.652RTEL1, TERT
snRNA modification (GO:0040031) 8.632DKC1, NHP2
mRNA metabolic process (GO:0016071) 3.332DKC1, PARN
snRNA metabolic process (GO:0016073) 5.312DKC1, NHP2
regulation of response to stress (GO:0080134) 2.532RTEL1, TERT
regulation of cellular response to stress (GO:0080135) 3.42RTEL1, TERT
positive regulation of binding (GO:0051099) 4.882ACD, TERT
protein localization to chromosome, telomeric region (GO:0070198) 7.532TINF2, ACD
developmental process (GO:0032502) 1.362ACD, TERT
single-organism developmental process (GO:0044767) 1.492ACD, TERT
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532TINF2, ACD

NET-GE enrichment

Term New enriched termICP valueGenes
protein localization to chromosome (GO:0034502) -6.20.019TINF2, ACD
anatomical structure homeostasis (GO:0060249) -4.250.0TINF2, DKC1, RTEL1, ACD, NHP2, TERT
negative regulation of homeostatic process (GO:0032845) -4.910.025TINF2, ACD
RNA modification (GO:0009451) -4.940.0NOP10, NHP2, PARN, DKC1
homeostatic process (GO:0042592) -2.610.021ACD, TINF2, RTEL1, TERT, DKC1
telomere formation via telomerase (GO:0032203) NEW9.730.0WRAP53, DKC1, TERT
telomere assembly (GO:0032202) -8.340.0TINF2, ACD, WRAP53, TERT, DKC1
pseudouridine synthesis (GO:0001522) -6.90.0NOP10, DKC1, NHP2
telomere maintenance via telomerase (GO:0007004) -6.90.016DKC1, TERT
telomere maintenance (GO:0000723) -5.370.0RTEL1, TINF2, ACD, DKC1, TERT
nucleobase-containing compound metabolic process (GO:0006139) -1.350.04TINF2, DKC1, PARN, RTEL1, ACD, NHP2, TERT, NOP10
regulation of telomere maintenance via telomerase (GO:0032210) -5.920.01TINF2, ACD
negative regulation of telomere maintenance via telomerase (GO:0032211) -7.240.005TINF2, ACD
rRNA processing (GO:0006364) -4.210.006NOP10, DKC1, NHP2
regulation of telomerase activity (GO:0051972) -5.970.0WRAP53, ACD, DKC1
positive regulation of telomerase activity (GO:0051973) -6.40.001WRAP53, ACD, DKC1
regulation of DNA metabolic process (GO:0051052) -3.870.001TINF2, DKC1, ACD, RTEL1, WRAP53, TERT
regulation of DNA biosynthetic process (GO:2000278) -5.170.027WRAP53, ACD, DKC1
heterocycle catabolic process (GO:0046700) NEW3.820.017TINF2, DKC1, PARN, RTEL1, ACD, NHP2, TERT
negative regulation of DNA replication (GO:0008156) NEW6.170.004TINF2, ACD, DKC1
telomere maintenance via telomere lengthening (GO:0010833) -6.640.001TINF2, DKC1, TERT
cellular nitrogen compound catabolic process (GO:0044270) NEW3.80.017TINF2, DKC1, PARN, RTEL1, ACD, NHP2, TERT
organelle organization (GO:0006996) -2.020.02TINF2, DKC1, ACD, RTEL1, WRAP53, TERT
nucleic acid metabolic process (GO:0090304) -1.460.008TINF2, DKC1, PARN, RTEL1, ACD, NHP2, TERT, NOP10
rRNA metabolic process (GO:0016072) -4.190.008NOP10, DKC1, NHP2
RNA-dependent DNA replication (GO:0006278) -6.260.019DKC1, TERT
chromosome organization (GO:0051276) -3.790.0TINF2, DKC1, ACD, RTEL1, WRAP53, TERT
negative regulation of telomere maintenance (GO:0032205) -6.470.003TINF2, ACD
regulation of telomere maintenance (GO:0032204) -5.540.036TINF2, ACD
telomere organization (GO:0032200) -5.330.0TINF2, DKC1, RTEL1, ACD, WRAP53, TERT
regulation of DNA replication (GO:0006275) NEW5.020.006TINF2, WRAP53, ACD, DKC1, TERT
protein localization to chromosome, telomeric region (GO:0070198) -7.530.002TINF2, ACD
DNA metabolic process (GO:0006259) -3.090.004RTEL1, TINF2, ACD, DKC1, TERT
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.69TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
nucleus (GO:0005634) 1.079TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
cell part (GO:0044464) 0.119TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
intracellular organelle part (GO:0044446) 0.819TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
intracellular organelle (GO:0043229) 0.519TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
nuclear part (GO:0044428) 1.559TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
intracellular part (GO:0044424) 0.289TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
membrane-bounded organelle (GO:0043227) 0.479TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
organelle (GO:0043226) 0.49TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
organelle part (GO:0044422) 0.799TINF2, DKC1, PARN, RTEL1, ACD, WRAP53, NHP2, TERT, NOP10
nucleoplasm (GO:0005654) 1.897TINF2, DKC1, RTEL1, ACD, NHP2, TERT, NOP10
non-membrane-bounded organelle (GO:0043228) 1.767TINF2, DKC1, PARN, ACD, NHP2, TERT, NOP10
macromolecular complex (GO:0032991) 1.357TINF2, DKC1, ACD, WRAP53, NHP2, TERT, NOP10
intracellular non-membrane-bounded organelle (GO:0043232) 1.767TINF2, DKC1, PARN, ACD, NHP2, TERT, NOP10
cytoplasm (GO:0005737) 1.016WRAP53, DKC1, PARN, ACD, NHP2, TERT
nuclear body (GO:0016604) 3.945WRAP53, NOP10, NHP2, TERT, DKC1
nucleolus (GO:0005730) 3.065NHP2, NOP10, TERT, PARN, DKC1
ribonucleoprotein complex (GO:1990904) 3.195WRAP53, NOP10, NHP2, TERT, DKC1
intracellular ribonucleoprotein complex (GO:0030529) 3.195WRAP53, NOP10, NHP2, TERT, DKC1
nucleoplasm part (GO:0044451) 3.225WRAP53, NOP10, NHP2, TERT, DKC1
telomerase holoenzyme complex (GO:0005697) 6.865WRAP53, NOP10, NHP2, TERT, DKC1
chromosome, telomeric region (GO:0000781) 4.94TINF2, ACD, NHP2, TERT
nuclear chromosome part (GO:0044454) 3.674TINF2, ACD, NHP2, TERT
nuclear chromosome, telomeric region (GO:0000784) 5.164TINF2, ACD, NHP2, TERT
Cajal body (GO:0015030) 5.854WRAP53, NOP10, DKC1, NHP2
chromosomal part (GO:0044427) 3.184TINF2, ACD, NHP2, TERT
chromosomal region (GO:0098687) 4.194TINF2, ACD, NHP2, TERT
small nucleolar ribonucleoprotein complex (GO:0005732) 6.763NOP10, DKC1, NHP2
box H/ACA RNP complex (GO:0072588) 8.423NOP10, DKC1, NHP2
box H/ACA scaRNP complex (GO:0072589) 8.423NOP10, DKC1, NHP2
cytoplasmic part (GO:0044444) 0.823NHP2, TERT, PARN
nuclear telomere cap complex (GO:0000783) 7.323TINF2, ACD, TERT
telomere cap complex (GO:0000782) 7.323TINF2, ACD, TERT
nucleolar part (GO:0044452) 5.683NOP10, DKC1, NHP2
protein-DNA complex (GO:0032993) 5.033TINF2, ACD, TERT
chromosome (GO:0005694) 3.783TINF2, ACD, TERT
box H/ACA telomerase RNP complex (GO:0090661) 8.423NOP10, DKC1, NHP2
box H/ACA snoRNP complex (GO:0031429) 8.423NOP10, DKC1, NHP2
telosome (GO:0070187) 8.012TINF2, ACD

NET-GE enrichment

Term New enriched termICP valueGenes
nucleoplasm (GO:0005654) -1.890.037TINF2, ACD, DKC1, TERT
nuclear part (GO:0044428) -1.550.006TINF2, DKC1, PARN, ACD, WRAP53, NHP2, TERT, NOP10
nuclear body (GO:0016604) -3.940.0TINF2, DKC1, ACD, WRAP53, NHP2, NOP10
macromolecular complex (GO:0032991) -1.350.049TINF2, DKC1, ACD, WRAP53, NHP2, TERT, NOP10
small nucleolar ribonucleoprotein complex (GO:0005732) -6.760.001NOP10, NHP2
protein-DNA complex (GO:0032993) -5.030.001TINF2, ACD, DKC1, TERT
nucleolus (GO:0005730) -3.060.047NHP2, NOP10, TERT, PARN, DKC1
ribonucleoprotein complex (GO:0030529) -3.190.0WRAP53, NOP10, NHP2, TERT, DKC1
chromosome, telomeric region (GO:0000781) -4.90.0TINF2, ACD, TERT
nuclear chromosome part (GO:0044454) -3.670.019TINF2, ACD, DKC1, TERT
nuclear telomere cap complex (GO:0000783) -7.320.0TINF2, ACD, TERT
telomere cap complex (GO:0000782) -7.320.0TINF2, ACD, TERT
nucleoplasm part (GO:0044451) -3.220.001TINF2, DKC1, ACD, WRAP53, NHP2, NOP10
Cajal body (GO:0015030) -5.850.0WRAP53, NOP10, DKC1, NHP2
chromosomal region (GO:0098687) -4.190.0TINF2, ACD, TERT
telomerase holoenzyme complex (GO:0005697) -6.860.0WRAP53, DKC1, TERT