Disease table of TREACHER COLLINS SYNDROME OMIM ID: PS154500

Gene-disease associations table

GeneAssociated with TREACHER COLLINS SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TCOF1ClinVar, OMIM, HUMSAVARHGNC link5q321PS154500
POLR1CClinVar, OMIM, HUMSAVARHGNC link6p21.12PS154500, PS312080
POLR1DClinVar, OMIM, HUMSAVARHGNC link13q12.21PS154500

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TCOF1POLR1CNo3NTRK1, ARRB2, ARRB1
POLR1CPOLR1DYes21POLR3A, TWISTNB, CD3EAP, POLR2H, CRCP, TSR1, GPN3, POLR3H, DCAF13, POLR3F, POLR3D, POLR3C, POLR2L, POLR1A, DDX18, POLR2E, POLR2C, POLR1B, POLR2F, NOP9, POLR3B

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
POLR1CPOLR1DYesbinding60POLR2H, UBTF, SSB, NFIX, ERCC2, TBP, POLR3G, NFIB, NFIC, MNAT1, RRN3, POLR3H, POLR2L, POLR3E, POLR2F, POLR3F, TWISTNB, NFIA, CRCP, CD3EAP, GTF3C1, SNAPC5, POLR2D, PTRF, POU2F1, POLR3D, POLR3B, CCNH, TAF1D, GTF3A, TAF1A, POLR1B, POLR1E, SNAPC1, GTF3C2, ZNF143, SNAPC2, POLR3A, POLR1A, GTF3C5, BRF1, ERCC3, POLR2G, SNAPC3, POLR2B, GTF3C4, TAF1B, BRF2, SNAPC4, GTF3C3, POLR3K, TTF1, TAF1C, LZTS1, BDP1, UBC, POLR2E, GTF2H1, GTF2H3, POLR2K

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

Interactions from CORUM
Interactions from CENSUS
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
POLR1CPOLR1DNo6POLR3B, CRCP, POLR1B, POLR1A, POLR3H, POLR3A

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
POLR1CPOLR1Dyes, complexPOLR1C e D are common core component of RNA polymerases I and III. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.492POLR1C, POLR1D
Cytosolic DNA-sensing pathwayhsa046236.792POLR1C, POLR1D
RNA polymerasehsa030207.772POLR1C, POLR1D
Epstein-Barr virus infectionhsa051694.972POLR1C, POLR1D
Purine metabolismhsa002305.282POLR1C, POLR1D
Pyrimidine metabolismhsa002406.012POLR1C, POLR1D

NET-GE enrichment

Term New enriched termICP valueGenes
Cytosolic DNA-sensing pathway (hsa04623) -6.790.021POLR1C, POLR1D
Nucleotide metabolismNEW5.050.048POLR1C, POLR1D
RNA polymerase (hsa03020) -7.770.001POLR1C, POLR1D
TranscriptionNEW5.070.046POLR1C, POLR1D
Purine metabolism (hsa00230) -5.280.035POLR1C, POLR1D
Pyrimidine metabolism (hsa00240) -6.010.041POLR1C, POLR1D
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Immune SystemR-HSA-1682562.372POLR1C, POLR1D
RNA Polymerase I Promoter EscapeR-HSA-737728.082POLR1C, POLR1D
RNA Polymerase I Chain ElongationR-HSA-737777.182POLR1C, POLR1D
RNA Polymerase III Transcription Initiation From Type 2 PromoterR-HSA-760668.282POLR1C, POLR1D
RNA Polymerase I Promoter ClearanceR-HSA-738546.752POLR1C, POLR1D
RNA Polymerase III Transcription Initiation From Type 1 PromoterR-HSA-760618.232POLR1C, POLR1D
Negative epigenetic regulation of rRNA expressionR-HSA-52509416.752POLR1C, POLR1D
RNA Polymerase III Transcription InitiationR-HSA-760467.852POLR1C, POLR1D
NoRC negatively regulates rRNA expressionR-HSA-4274136.812POLR1C, POLR1D
RNA Polymerase III Abortive And Retractive InitiationR-HSA-7494767.662POLR1C, POLR1D
RNA Polymerase III Transcription TerminationR-HSA-739808.462POLR1C, POLR1D
Epigenetic regulation of gene expressionR-HSA-2121656.462POLR1C, POLR1D
Innate Immune SystemR-HSA-1682493.172POLR1C, POLR1D
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionR-HSA-5040466.162POLR1C, POLR1D
RNA Polymerase I Transcription InitiationR-HSA-737627.432POLR1C, POLR1D
Cytosolic sensors of pathogen-associated DNA R-HSA-18349496.942POLR1C, POLR1D
RNA Polymerase III Transcription Initiation From Type 3 PromoterR-HSA-760718.182POLR1C, POLR1D
RNA Polymerase I TranscriptionR-HSA-738646.722POLR1C, POLR1D
RNA Polymerase I Transcription TerminationR-HSA-738638.032POLR1C, POLR1D
Gene ExpressionR-HSA-741602.722POLR1C, POLR1D
RNA Polymerase III Chain ElongationR-HSA-737808.812POLR1C, POLR1D
RNA Polymerase III TranscriptionR-HSA-741587.662POLR1C, POLR1D

NET-GE enrichment

Term New enriched termICP valueGenes
Negative epigenetic regulation of rRNA expression (R-HSA-5250941) -6.750.009POLR1C, POLR1D
RNA Polymerase III Transcription Initiation (R-HSA-76046) -7.850.001POLR1C, POLR1D
RNA Polymerase III Transcription Termination (R-HSA-73980) -8.460.001POLR1C, POLR1D
NoRC negatively regulates rRNA expression (R-HSA-427413) -6.810.002POLR1C, POLR1D
RNA Polymerase I Promoter Clearance (R-HSA-73854) -6.750.002POLR1C, POLR1D
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription (R-HSA-504046) -6.160.024POLR1C, POLR1D
RNA Polymerase III Transcription Initiation From Type 3 Promoter (R-HSA-76071) -8.180.0POLR1C, POLR1D
RNA Polymerase III Chain Elongation (R-HSA-73780) -8.810.0POLR1C, POLR1D
RNA Polymerase III Abortive And Retractive Initiation (R-HSA-749476) -7.660.002POLR1C, POLR1D
RNA Polymerase I Transcription Initiation (R-HSA-73762) -7.430.001POLR1C, POLR1D
Cytosolic sensors of pathogen-associated DNA (R-HSA-1834949) -6.940.002POLR1C, POLR1D
RNA Polymerase I Chain Elongation (R-HSA-73777) -7.180.004POLR1C, POLR1D
Epigenetic regulation of gene expression (R-HSA-212165) -6.460.016POLR1C, POLR1D
RNA Polymerase III Transcription Initiation From Type 2 Promoter (R-HSA-76066) -8.280.0POLR1C, POLR1D
RNA Polymerase I Transcription (R-HSA-73864) -6.720.002POLR1C, POLR1D
RNA Polymerase III Transcription (R-HSA-74158) -7.660.002POLR1C, POLR1D
RNA Polymerase I Promoter Escape (R-HSA-73772) -8.080.0POLR1C, POLR1D
RNA Polymerase I Transcription Termination (R-HSA-73863) -8.030.001POLR1C, POLR1D
RNA Polymerase III Transcription Initiation From Type 1 Promoter (R-HSA-76061) -8.230.0POLR1C, POLR1D
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183POLR1C, POLR1D, TCOF1
organic cyclic compound binding (GO:0097159) 1.053POLR1C, POLR1D, TCOF1
protein binding (GO:0005515) 0.463POLR1C, POLR1D, TCOF1
nucleic acid binding (GO:0003676) 1.443POLR1C, POLR1D, TCOF1
heterocyclic compound binding (GO:1901363) 1.063POLR1C, POLR1D, TCOF1
nucleotidyltransferase activity (GO:0016779) 4.812POLR1C, POLR1D
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772POLR1C, POLR1D
RNA polymerase activity (GO:0034062) 5.932POLR1C, POLR1D
catalytic activity (GO:0003824) 1.052POLR1C, POLR1D
transferase activity (GO:0016740) 1.952POLR1C, POLR1D
RNA polymerase III activity (GO:0001056) 6.852POLR1C, POLR1D
RNA polymerase I activity (GO:0001054) 7.252POLR1C, POLR1D
DNA binding (GO:0003677) 1.922POLR1C, POLR1D
DNA-directed RNA polymerase activity (GO:0003899) 5.982POLR1C, POLR1D
protein dimerization activity (GO:0046983) 2.722POLR1C, POLR1D
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
RNA biosynthetic process (GO:0032774) 1.842POLR1C, POLR1D
regulation of metabolic process (GO:0019222) 1.022POLR1C, POLR1D
nucleic acid metabolic process (GO:0090304) 1.462POLR1C, POLR1D
cellular biosynthetic process (GO:0044249) 1.372POLR1C, POLR1D
cellular nitrogen compound metabolic process (GO:0034641) 1.222POLR1C, POLR1D
positive regulation of gene expression (GO:0010628) 2.352POLR1C, POLR1D
nitrogen compound metabolic process (GO:0006807) 1.132POLR1C, POLR1D
cellular macromolecule biosynthetic process (GO:0034645) 1.662POLR1C, POLR1D
organic cyclic compound biosynthetic process (GO:1901362) 1.662POLR1C, POLR1D
regulation of biological process (GO:0050789) 0.452POLR1C, POLR1D
organic cyclic compound metabolic process (GO:1901360) 1.262POLR1C, POLR1D
positive regulation of metabolic process (GO:0009893) 1.742POLR1C, POLR1D
organic substance biosynthetic process (GO:1901576) 1.342POLR1C, POLR1D
DNA-templated transcription, termination (GO:0006353) 5.122POLR1C, POLR1D
positive regulation of macromolecule metabolic process (GO:0010604) 1.812POLR1C, POLR1D
cellular macromolecule metabolic process (GO:0044260) 0.932POLR1C, POLR1D
positive regulation of multicellular organismal process (GO:0051240) 2.492POLR1C, POLR1D
regulation of gene expression, epigenetic (GO:0040029) 4.582POLR1C, POLR1D
transcription initiation from RNA polymerase I promoter (GO:0006361) 6.232POLR1C, POLR1D
organic substance metabolic process (GO:0071704) 0.632POLR1C, POLR1D
termination of RNA polymerase I transcription (GO:0006363) 6.292POLR1C, POLR1D
transcription elongation from RNA polymerase I promoter (GO:0006362) 6.332POLR1C, POLR1D
biological regulation (GO:0065007) 0.392POLR1C, POLR1D
nucleic acid-templated transcription (GO:0097659) 1.912POLR1C, POLR1D
positive regulation of biological process (GO:0048518) 1.22POLR1C, POLR1D
positive regulation of gene expression, epigenetic (GO:0045815) 5.762POLR1C, POLR1D
transcription from RNA polymerase III promoter (GO:0006383) 6.122POLR1C, POLR1D
regulation of gene expression (GO:0010468) 1.372POLR1C, POLR1D
heterocycle biosynthetic process (GO:0018130) 1.72POLR1C, POLR1D
nucleobase-containing compound metabolic process (GO:0006139) 1.352POLR1C, POLR1D
regulation of macromolecule metabolic process (GO:0060255) 1.082POLR1C, POLR1D
cellular process (GO:0009987) 0.262POLR1C, POLR1D
cellular aromatic compound metabolic process (GO:0006725) 1.32POLR1C, POLR1D
biosynthetic process (GO:0009058) 1.322POLR1C, POLR1D
macromolecule biosynthetic process (GO:0009059) 1.612POLR1C, POLR1D
metabolic process (GO:0008152) 0.582POLR1C, POLR1D
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722POLR1C, POLR1D
heterocycle metabolic process (GO:0046483) 1.312POLR1C, POLR1D
RNA metabolic process (GO:0016070) 1.592POLR1C, POLR1D
primary metabolic process (GO:0044238) 0.692POLR1C, POLR1D
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592POLR1C, POLR1D
positive regulation of type I interferon production (GO:0032481) 5.482POLR1C, POLR1D
cellular metabolic process (GO:0044237) 0.692POLR1C, POLR1D
macromolecule metabolic process (GO:0043170) 0.832POLR1C, POLR1D
DNA-templated transcription, elongation (GO:0006354) 5.152POLR1C, POLR1D
regulation of cytokine production (GO:0001817) 3.42POLR1C, POLR1D
regulation of multicellular organismal process (GO:0051239) 1.872POLR1C, POLR1D
transcription, DNA-templated (GO:0006351) 1.912POLR1C, POLR1D
DNA-templated transcription, initiation (GO:0006352) 4.492POLR1C, POLR1D
regulation of type I interferon production (GO:0032479) 5.032POLR1C, POLR1D
aromatic compound biosynthetic process (GO:0019438) 1.72POLR1C, POLR1D
positive regulation of cytokine production (GO:0001819) 3.822POLR1C, POLR1D

NET-GE enrichment

Term New enriched termICP valueGenes
transcription initiation from RNA polymerase I promoter (GO:0006361) -6.230.002POLR1C, POLR1D
transcription from RNA polymerase III promoter (GO:0006383) -6.120.009POLR1C, POLR1D
DNA-templated transcription, termination (GO:0006353) -5.120.049POLR1C, POLR1D
positive regulation of type I interferon production (GO:0032481) -5.480.003POLR1C, POLR1D
rRNA transcription (GO:0009303) NEW6.90.003POLR1C, TCOF1
DNA-templated transcription, elongation (GO:0006354) -5.150.005POLR1C, POLR1D
transcription from RNA polymerase I promoter (GO:0006360) NEW8.120.0POLR1C, POLR1D, TCOF1
termination of RNA polymerase I transcription (GO:0006363) -6.290.0POLR1C, POLR1D
transcription elongation from RNA polymerase I promoter (GO:0006362) -6.330.0POLR1C, POLR1D
DNA-templated transcription, initiation (GO:0006352) -4.490.026POLR1C, POLR1D
regulation of type I interferon production (GO:0032479) -5.030.006POLR1C, POLR1D
termination of RNA polymerase III transcription (GO:0006386) NEW9.730.0POLR1C, POLR1D
positive regulation of cytokine production (GO:0001819) -3.820.04POLR1C, POLR1D
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.63POLR1C, POLR1D, TCOF1
nucleus (GO:0005634) 1.073POLR1C, POLR1D, TCOF1
cell part (GO:0044464) 0.113POLR1C, POLR1D, TCOF1
intracellular organelle part (GO:0044446) 0.813POLR1C, POLR1D, TCOF1
intracellular organelle (GO:0043229) 0.513POLR1C, POLR1D, TCOF1
nuclear part (GO:0044428) 1.553POLR1C, POLR1D, TCOF1
intracellular part (GO:0044424) 0.283POLR1C, POLR1D, TCOF1
membrane-bounded organelle (GO:0043227) 0.473POLR1C, POLR1D, TCOF1
organelle (GO:0043226) 0.43POLR1C, POLR1D, TCOF1
organelle part (GO:0044422) 0.793POLR1C, POLR1D, TCOF1
protein complex (GO:0043234) 1.512POLR1C, POLR1D
DNA-directed RNA polymerase I complex (GO:0005736) 7.242POLR1C, POLR1D
DNA-directed RNA polymerase III complex (GO:0005666) 6.912POLR1C, POLR1D
macromolecular complex (GO:0032991) 1.352POLR1C, POLR1D
RNA polymerase complex (GO:0030880) 5.832POLR1C, POLR1D
transferase complex, transferring phosphorus-containing groups (GO:0061695) 4.612POLR1C, POLR1D
cytosol (GO:0005829) 1.682POLR1C, POLR1D
nuclear DNA-directed RNA polymerase complex (GO:0055029) 5.872POLR1C, POLR1D
DNA-directed RNA polymerase complex (GO:0000428) 5.872POLR1C, POLR1D
nucleoplasm (GO:0005654) 1.892POLR1C, POLR1D
cytoplasmic part (GO:0044444) 0.822POLR1C, POLR1D
nucleoplasm part (GO:0044451) 3.222POLR1C, POLR1D
transferase complex (GO:1990234) 3.322POLR1C, POLR1D
nucleolar part (GO:0044452) 5.682POLR1C, POLR1D
catalytic complex (GO:1902494) 2.92POLR1C, POLR1D

NET-GE enrichment

Term New enriched termICP valueGenes
DNA-directed RNA polymerase I complex (GO:0005736) -7.240.0POLR1C, POLR1D
RNA polymerase complex (GO:0030880) -5.830.003POLR1C, POLR1D
nuclear DNA-directed RNA polymerase complex (GO:0055029) -5.870.002POLR1C, POLR1D
DNA-directed RNA polymerase III complex (GO:0005666) -6.910.0POLR1C, POLR1D
DNA-directed RNA polymerase complex (GO:0000428) -5.870.002POLR1C, POLR1D
nucleolar part (GO:0044452) -5.680.0POLR1C, POLR1D