Disease table of TRICHOTHIODYSTROPHY OMIM ID: PS601675

Gene-disease associations table

Gene	Associated with TRICHOTHIODYSTROPHY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
ERCC2	ClinVar, OMIM, HUMSAVAR	HGNC link	19q13.32	3	278730, PS601675, PS214150
ERCC3	ClinVar, OMIM, HUMSAVAR	HGNC link	2q14.3	2	610651, PS601675
MPLKIP	ClinVar, OMIM, HUMSAVAR	HGNC link	7p14.1	1	PS601675
GTF2H5	ClinVar, OMIM, HUMSAVAR	HGNC link	6q25.3	1	PS601675
RNF113A	ClinVar, OMIM	HGNC link	Xq24	1	PS601675

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
ERCC2	YES	5	LAMTOR5, CDKN1A, BAX, TP53, BCL2	0
ERCC3	YES	1	CDK7	0

regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
ERCC2	YES	1	HIF1A	0

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
ERCC2	ERCC3	Yes	18	UVSSA, ERCC5, AR, CDK7, GTF2H2, MMS19, GTF2H2C_2, GTF2H5, TP53, MNAT1, REV, CCNH, ERCC6, ATF7IP, RAD52, TAT, GTF2H1, GTF2H3
ERCC2	MPLKIP	No	2	CDK7, XPO1
ERCC2	GTF2H5	Yes	8	ERCC5, GTF2H2, GTF2H1, CCNH, CDK7, ERCC3, MNAT1, GTF2H3
ERCC3	MPLKIP	No	1	CDK7
ERCC3	GTF2H5	Yes	9	ERCC5, GTF2H2, ERCC2, GTF2H1, CCNH, GTF2H4, CDK7, MNAT1, GTF2H3
MPLKIP	GTF2H5	No	1	CDK7

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

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
ERCC2	ERCC3	Yes	binding	105	UBTF, PHKA2, CCNT1, TAF1, POLR2K, ERCC6, SUPT4H1, XPA, CDK9, RPA1, TAF13, TAF1D, PRKACB, UVSSA, GTF2E1, ELL, POLR2L, TP53, POLR2I, XAB2, TAF11, SUPT5H, GTF2E2, ERCC4, POLR1B, TCEB1, POLR2G, RNGTT, TAF4B, GTF2B, PRKAA1, PRKACA, ERCC8, NCBP2, POLR2A, DDB1, RPA2, GTF2F2, ERCC1, PRKAG1, MNAT1, DDB2, POLR2B, TAF1B, TAF10, TTF1, NCBP1, ACVR1C, UBC, POLR1D, RRN3, POLR2J, PTRF, POLR2F, CHUK, TAF12, POLR1C, TH1L, POLR2C, ERC1, TAF6, GTF2F1, ERCC5, RAD23B, TAF1A, COBRA1, PRKAG2, IKBKB, GTF2H1, CCNT2, GTF2A1, PRKAR1B, PHKG2, SSRP1, TAF5, TBP, POLR1A, TAF4, CDK7, POLR2H, ACVR1, RAD52, GTF2H2, TCEB3, PRKAR2A, TCEA1, GTF2H5, TCEB2, POLR2D, PYCARD, GTF2A2, SUPT16H, PRKAR1A, XPC, MMS19, PYDC1, FEN1, WHSC2, CCNH, TAF1C, RNMT, RPA3, POLR2E, ATF7IP, GTF2H3
ERCC2	GTF2H5	Yes	binding	5	GTF2E2, ERCC3, GTF2H3, GTF2E1, GTF2H1
ERCC3	GTF2H5	Yes	binding	5	ERCC2, GTF2E2, GTF2H3, GTF2E1, GTF2H1

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

Interactions from CORUM

Gene1	Gene2	Direct Interaction	Complexes	Number of shared interactors	Shared genes in interaction
ERCC2	ERCC3	Yes	TFIIH transcription factor complex (ERCC2, ERCC3, GTF2H1, CDK7, CCNH, GTF2H2);TFIIH transcription factor complex;RNA polymerase II holoenzyme complex;BRCA1-RNA polymerase II complex	28	GTF2B, TBP, POLR2J, GTF2H4, POLR2I, POLR2F, POLR2C, POLR2H, GTF2H2, GTF2H1, MED21, POLR2E, POLR2D, BRCA1, GTF2F1, CDK7, GTF2E1, POLR2L, POLR2G, POLR2B, POLR2A, GTF2E2, CCNH, GTF2H5, GTF2F2, MNAT1, GTF2H3, POLR2K
ERCC2	GTF2H5	Yes	TFIIH transcription factor complex	8	GTF2H2, GTF2H1, CCNH, GTF2H4, CDK7, ERCC3, MNAT1, GTF2H3
ERCC3	GTF2H5	Yes	TFIIH transcription factor complex	8	GTF2H2, ERCC2, GTF2H1, CCNH, GTF2H4, CDK7, MNAT1, GTF2H3

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

Interactions from CENSUS

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
ERCC2	ERCC3	Yes	0

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

Interactions from PDB

Gene1	Gene2	Interaction	Number of common interactors	Common genes in interaction
ERCC2	ERCC3	Yes	5	TBP, POLR2F, ERCC3, GTF2H5, ERCC2
ERCC2	GTF2H5	Yes	5	TBP, POLR2F, ERCC3, GTF2H5, ERCC2
ERCC3	GTF2H5	Yes	5	TBP, POLR2F, ERCC3, GTF2H5, ERCC2

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 term	KEGG term ID	IC	Number of genes with the same term	Genes
Basal transcription factors	hsa03022	7.31	3	GTF2H5, ERCC3, ERCC2
Nucleotide excision repair	hsa03420	7.15	3	GTF2H5, ERCC3, ERCC2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Basal transcription factors (hsa03022)	-	7.31	0.0	GTF2H5, ERCC3, ERCC2
Genetic Information Processing	NEW	2.48	0.035	GTF2H5, ERCC3, ERCC2
Replication and repair	NEW	5.41	0.0	GTF2H5, ERCC3, ERCC2
Transcription	NEW	5.07	0.001	GTF2H5, ERCC3, ERCC2
Nucleotide excision repair (hsa03420)	-	7.15	0.0	GTF2H5, ERCC3, ERCC2

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Global Genomic NER (GG-NER)	R-HSA-109970	7.89	3	GTF2H5, ERCC3, ERCC2
Dual incision reaction in TC-NER	R-HSA-110304	8.12	3	GTF2H5, ERCC3, ERCC2
Formation of transcription-coupled NER (TC-NER) repair complex	R-HSA-110302	8.12	3	GTF2H5, ERCC3, ERCC2
Transcription-coupled NER (TC-NER)	R-HSA-73937	7.49	3	GTF2H5, ERCC3, ERCC2
Formation of incision complex in GG-NER	R-HSA-73935	8.59	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Promoter Escape	R-HSA-73772	8.08	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Chain Elongation	R-HSA-73777	7.18	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Promoter Escape	R-HSA-73776	7.52	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	R-HSA-73779	7.52	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Promoter Clearance	R-HSA-73854	6.75	3	GTF2H5, ERCC3, ERCC2
Disease	R-HSA-1643685	3.33	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Pre-transcription Events	R-HSA-674695	7.01	3	GTF2H5, ERCC3, ERCC2
Transcription of the HIV genome	R-HSA-167172	6.96	3	GTF2H5, ERCC3, ERCC2
Negative epigenetic regulation of rRNA expression	R-HSA-5250941	6.75	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Transcription Initiation And Promoter Clearance	R-HSA-76042	7.52	3	GTF2H5, ERCC3, ERCC2
NoRC negatively regulates rRNA expression	R-HSA-427413	6.81	3	GTF2H5, ERCC3, ERCC2
Formation of the HIV-1 Early Elongation Complex	R-HSA-167158	7.94	3	GTF2H5, ERCC3, ERCC2
HIV Infection	R-HSA-162906	5.22	3	GTF2H5, ERCC3, ERCC2
Late Phase of HIV Life Cycle	R-HSA-162599	6.02	3	GTF2H5, ERCC3, ERCC2
Nucleotide Excision Repair	R-HSA-73885	7.34	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Transcription	R-HSA-73857	6.25	3	GTF2H5, ERCC3, ERCC2
Infectious disease	R-HSA-5663205	4.47	3	GTF2H5, ERCC3, ERCC2
Epigenetic regulation of gene expression	R-HSA-212165	6.46	3	GTF2H5, ERCC3, ERCC2
mRNA Capping	R-HSA-72086	8.12	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription	R-HSA-504046	6.16	3	GTF2H5, ERCC3, ERCC2
DNA Repair	R-HSA-73894	5.8	3	GTF2H5, ERCC3, ERCC2
RNA Pol II CTD phosphorylation and interaction with CE	R-HSA-77075	8.23	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Transcription Initiation	R-HSA-73762	7.43	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Transcription	R-HSA-73864	6.72	3	GTF2H5, ERCC3, ERCC2
HIV Transcription Initiation	R-HSA-167161	7.52	3	GTF2H5, ERCC3, ERCC2
RNA Pol II CTD phosphorylation and interaction with CE	R-HSA-167160	8.23	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Transcription Termination	R-HSA-73863	8.03	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase II HIV Promoter Escape	R-HSA-167162	7.52	3	GTF2H5, ERCC3, ERCC2
Formation of RNA Pol II elongation complex	R-HSA-112382	7.56	3	GTF2H5, ERCC3, ERCC2
Formation of HIV elongation complex in the absence of HIV Tat	R-HSA-167152	7.56	3	GTF2H5, ERCC3, ERCC2
Formation of HIV-1 elongation complex containing HIV-1 Tat	R-HSA-167200	7.59	3	GTF2H5, ERCC3, ERCC2
Dual incision reaction in GG-NER	R-HSA-73941	8.59	3	GTF2H5, ERCC3, ERCC2
Formation of the Early Elongation Complex	R-HSA-113418	7.94	3	GTF2H5, ERCC3, ERCC2
Gene Expression	R-HSA-74160	2.72	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Transcription Initiation	R-HSA-75953	7.52	3	GTF2H5, ERCC3, ERCC2
HIV Transcription Elongation	R-HSA-167169	7.59	3	GTF2H5, ERCC3, ERCC2
Tat-mediated elongation of the HIV-1 transcript	R-HSA-167246	7.59	3	GTF2H5, ERCC3, ERCC2
HIV Life Cycle	R-HSA-162587	5.89	3	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Transcription Elongation	R-HSA-75955	7.56	3	GTF2H5, ERCC3, ERCC2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Global Genomic NER (GG-NER) (R-HSA-109970)	-	7.89	0.0	GTF2H5, ERCC3, ERCC2
Dual incision reaction in TC-NER (R-HSA-110304)	-	8.12	0.0	GTF2H5, ERCC3, ERCC2
Formation of transcription-coupled NER (TC-NER) repair complex (R-HSA-110302)	-	8.12	0.0	GTF2H5, ERCC3, ERCC2
Transcription-coupled NER (TC-NER) (R-HSA-73937)	-	7.49	0.0	GTF2H5, ERCC3, ERCC2
Formation of incision complex in GG-NER (R-HSA-73935)	-	8.59	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Promoter Escape (R-HSA-73772)	-	8.08	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Chain Elongation (R-HSA-73777)	-	7.18	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Promoter Escape (R-HSA-73776)	-	7.52	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening (R-HSA-73779)	-	7.52	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Promoter Clearance (R-HSA-73854)	-	6.75	0.0	GTF2H5, ERCC3, ERCC2
Disease (R-HSA-1643685)	-	3.33	0.046	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Transcription (R-HSA-73857)	-	6.25	0.0	GTF2H5, ERCC3, ERCC2
Transcription of the HIV genome (R-HSA-167172)	-	6.96	0.0	GTF2H5, ERCC3, ERCC2
Negative epigenetic regulation of rRNA expression (R-HSA-5250941)	-	6.75	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Transcription Initiation And Promoter Clearance (R-HSA-76042)	-	7.52	0.0	GTF2H5, ERCC3, ERCC2
NoRC negatively regulates rRNA expression (R-HSA-427413)	-	6.81	0.0	GTF2H5, ERCC3, ERCC2
Formation of the HIV-1 Early Elongation Complex (R-HSA-167158)	-	7.94	0.0	GTF2H5, ERCC3, ERCC2
HIV Infection (R-HSA-162906)	-	5.22	0.001	GTF2H5, ERCC3, ERCC2
Late Phase of HIV Life Cycle (R-HSA-162599)	-	6.02	0.0	GTF2H5, ERCC3, ERCC2
Nucleotide Excision Repair (R-HSA-73885)	-	7.34	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Pre-transcription Events (R-HSA-674695)	-	7.01	0.0	GTF2H5, ERCC3, ERCC2
Infectious disease (R-HSA-5663205)	-	4.47	0.004	GTF2H5, ERCC3, ERCC2
Epigenetic regulation of gene expression (R-HSA-212165)	-	6.46	0.0	GTF2H5, ERCC3, ERCC2
mRNA Capping (R-HSA-72086)	-	8.12	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription (R-HSA-504046)	-	6.16	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Transcription Initiation (R-HSA-75953)	-	7.52	0.0	GTF2H5, ERCC3, ERCC2
Dual incision reaction in GG-NER (R-HSA-73941)	-	8.59	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Transcription Initiation (R-HSA-73762)	-	7.43	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Transcription (R-HSA-73864)	-	6.72	0.0	GTF2H5, ERCC3, ERCC2
HIV Transcription Initiation (R-HSA-167161)	-	7.52	0.0	GTF2H5, ERCC3, ERCC2
RNA Pol II CTD phosphorylation and interaction with CE (R-HSA-167160)	-	8.23	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase I Transcription Termination (R-HSA-73863)	-	8.03	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase II HIV Promoter Escape (R-HSA-167162)	-	7.52	0.0	GTF2H5, ERCC3, ERCC2
Formation of RNA Pol II elongation complex (R-HSA-112382)	-	7.56	0.0	GTF2H5, ERCC3, ERCC2
Formation of HIV elongation complex in the absence of HIV Tat (R-HSA-167152)	-	7.56	0.0	GTF2H5, ERCC3, ERCC2
Formation of HIV-1 elongation complex containing HIV-1 Tat (R-HSA-167200)	-	7.59	0.0	GTF2H5, ERCC3, ERCC2
RNA Pol II CTD phosphorylation and interaction with CE (R-HSA-77075)	-	8.23	0.0	GTF2H5, ERCC3, ERCC2
RNA Polymerase II Transcription Elongation (R-HSA-75955)	-	7.56	0.0	GTF2H5, ERCC3, ERCC2
DNA Repair (R-HSA-73894)	-	5.8	0.0	GTF2H5, ERCC3, ERCC2
HIV Transcription Elongation (R-HSA-167169)	-	7.59	0.0	GTF2H5, ERCC3, ERCC2
Tat-mediated elongation of the HIV-1 transcript (R-HSA-167246)	-	7.59	0.0	GTF2H5, ERCC3, ERCC2
HIV Life Cycle (R-HSA-162587)	-	5.89	0.0	GTF2H5, ERCC3, ERCC2
Formation of the Early Elongation Complex (R-HSA-113418)	-	7.94	0.0	GTF2H5, ERCC3, ERCC2

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	5	RNF113A, GTF2H5, ERCC3, MPLKIP, ERCC2
protein binding (GO:0005515)	0.46	4	RNF113A, ERCC3, MPLKIP, ERCC2
organic cyclic compound binding (GO:0097159)	1.05	3	GTF2H5, ERCC3, ERCC2
heterocyclic compound binding (GO:1901363)	1.06	3	GTF2H5, ERCC3, ERCC2
nucleic acid binding (GO:0003676)	1.44	3	GTF2H5, ERCC3, ERCC2
DNA binding (GO:0003677)	1.92	3	GTF2H5, ERCC3, ERCC2
protein C-terminus binding (GO:0008022)	4.5	2	ERCC3, ERCC2
ATP-dependent helicase activity (GO:0008026)	5.12	2	ERCC3, ERCC2
purine ribonucleoside triphosphate binding (GO:0035639)	2.22	2	ERCC3, ERCC2
protein kinase activity (GO:0004672)	3.27	2	ERCC3, ERCC2
ATPase activity (GO:0016887)	3.65	2	ERCC3, ERCC2
DNA helicase activity (GO:0003678)	5.73	2	ERCC3, ERCC2
RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	6.97	2	ERCC3, ERCC2
ion binding (GO:0043167)	1.36	2	RNF113A, ERCC2
nucleoside phosphate binding (GO:1901265)	1.96	2	ERCC3, ERCC2
nucleoside binding (GO:0001882)	2.21	2	ERCC3, ERCC2
cation binding (GO:0043169)	1.4	2	RNF113A, ERCC2
ATPase activity, coupled (GO:0042623)	3.97	2	ERCC3, ERCC2
carbohydrate derivative binding (GO:0097367)	2.03	2	ERCC3, ERCC2
nucleotide binding (GO:0000166)	1.96	2	ERCC3, ERCC2
protein serine/threonine kinase activity (GO:0004674)	3.64	2	ERCC3, ERCC2
transferase activity (GO:0016740)	1.95	2	ERCC3, ERCC2
purine nucleoside binding (GO:0001883)	2.22	2	ERCC3, ERCC2
ribonucleoside binding (GO:0032549)	2.22	2	ERCC3, ERCC2
purine nucleotide binding (GO:0017076)	2.19	2	ERCC3, ERCC2
metal ion binding (GO:0046872)	1.41	2	RNF113A, ERCC2
ATP binding (GO:0005524)	2.43	2	ERCC3, ERCC2
hydrolase activity (GO:0016787)	1.9	2	ERCC3, ERCC2
ATP-dependent DNA helicase activity (GO:0004003)	6.13	2	ERCC3, ERCC2
kinase activity (GO:0016301)	2.93	2	ERCC3, ERCC2
nucleoside-triphosphatase activity (GO:0017111)	3.09	2	ERCC3, ERCC2
helicase activity (GO:0004386)	4.69	2	ERCC3, ERCC2
small molecule binding (GO:0036094)	1.89	2	ERCC3, ERCC2
catalytic activity (GO:0003824)	1.05	2	ERCC3, ERCC2
DNA-dependent ATPase activity (GO:0008094)	5.31	2	ERCC3, ERCC2
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)	3.03	2	ERCC3, ERCC2
protein N-terminus binding (GO:0047485)	5.11	2	ERCC3, ERCC2
adenyl nucleotide binding (GO:0030554)	2.4	2	ERCC3, ERCC2
phosphotransferase activity, alcohol group as acceptor (GO:0016773)	3.08	2	ERCC3, ERCC2
transferase activity, transferring phosphorus-containing groups (GO:0016772)	2.77	2	ERCC3, ERCC2
hydrolase activity, acting on acid anhydrides (GO:0016817)	3.03	2	ERCC3, ERCC2
pyrophosphatase activity (GO:0016462)	3.04	2	ERCC3, ERCC2
adenyl ribonucleotide binding (GO:0032559)	2.41	2	ERCC3, ERCC2
purine NTP-dependent helicase activity (GO:0070035)	5.12	2	ERCC3, ERCC2
purine ribonucleotide binding (GO:0032555)	2.2	2	ERCC3, ERCC2
purine ribonucleoside binding (GO:0032550)	2.22	2	ERCC3, ERCC2
ribonucleotide binding (GO:0032553)	2.19	2	ERCC3, ERCC2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
DNA-dependent ATPase activity (GO:0008094)	-	5.31	0.01	ERCC3, ERCC2
ATP-dependent helicase activity (GO:0008026)	-	5.12	0.016	ERCC3, ERCC2
protein N-terminus binding (GO:0047485)	-	5.11	0.016	ERCC3, ERCC2
ATP-dependent DNA helicase activity (GO:0004003)	-	6.13	0.002	ERCC3, ERCC2
purine NTP-dependent helicase activity (GO:0070035)	-	5.12	0.016	ERCC3, ERCC2
DNA helicase activity (GO:0003678)	-	5.73	0.004	ERCC3, ERCC2

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
cellular process (GO:0009987)	0.26	5	RNF113A, GTF2H5, ERCC3, MPLKIP, ERCC2
RNA metabolic process (GO:0016070)	1.59	4	RNF113A, GTF2H5, ERCC3, ERCC2
mRNA metabolic process (GO:0016071)	3.33	4	RNF113A, GTF2H5, ERCC3, ERCC2
primary metabolic process (GO:0044238)	0.69	4	RNF113A, GTF2H5, ERCC3, ERCC2
organelle organization (GO:0006996)	2.02	4	GTF2H5, ERCC3, MPLKIP, ERCC2
cellular macromolecule metabolic process (GO:0044260)	0.93	4	RNF113A, GTF2H5, ERCC3, ERCC2
nucleobase-containing compound metabolic process (GO:0006139)	1.35	4	RNF113A, GTF2H5, ERCC3, ERCC2
cellular metabolic process (GO:0044237)	0.69	4	RNF113A, GTF2H5, ERCC3, ERCC2
cellular aromatic compound metabolic process (GO:0006725)	1.3	4	RNF113A, GTF2H5, ERCC3, ERCC2
cellular component organization (GO:0016043)	1.24	4	GTF2H5, ERCC3, MPLKIP, ERCC2
macromolecule metabolic process (GO:0043170)	0.83	4	RNF113A, GTF2H5, ERCC3, ERCC2
nucleic acid metabolic process (GO:0090304)	1.46	4	RNF113A, GTF2H5, ERCC3, ERCC2
organic substance metabolic process (GO:0071704)	0.63	4	RNF113A, GTF2H5, ERCC3, ERCC2
cellular nitrogen compound metabolic process (GO:0034641)	1.22	4	RNF113A, GTF2H5, ERCC3, ERCC2
nitrogen compound metabolic process (GO:0006807)	1.13	4	RNF113A, GTF2H5, ERCC3, ERCC2
organic cyclic compound metabolic process (GO:1901360)	1.26	4	RNF113A, GTF2H5, ERCC3, ERCC2
metabolic process (GO:0008152)	0.58	4	RNF113A, GTF2H5, ERCC3, ERCC2
mRNA processing (GO:0006397)	3.69	4	RNF113A, GTF2H5, ERCC3, ERCC2
RNA processing (GO:0006396)	3.01	4	RNF113A, GTF2H5, ERCC3, ERCC2
cellular component organization or biogenesis (GO:0071840)	1.22	4	GTF2H5, ERCC3, MPLKIP, ERCC2
heterocycle metabolic process (GO:0046483)	1.31	4	RNF113A, GTF2H5, ERCC3, ERCC2
DNA conformation change (GO:0071103)	4.9	3	GTF2H5, ERCC3, ERCC2
nucleotide-excision repair, preincision complex assembly (GO:0006294)	6.36	3	GTF2H5, ERCC3, ERCC2
nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)	6.12	3	GTF2H5, ERCC3, ERCC2
regulation of primary metabolic process (GO:0080090)	1.08	3	GTF2H5, ERCC3, ERCC2
regulation of metabolic process (GO:0019222)	1.02	3	GTF2H5, ERCC3, ERCC2
RNA capping (GO:0036260)	6.2	3	GTF2H5, ERCC3, ERCC2
macromolecular complex subunit organization (GO:0043933)	2.14	3	GTF2H5, ERCC3, ERCC2
response to radiation (GO:0009314)	3.69	3	GTF2H5, ERCC3, ERCC2
cellular macromolecular complex assembly (GO:0034622)	3.18	3	GTF2H5, ERCC3, ERCC2
7-methylguanosine RNA capping (GO:0009452)	6.2	3	GTF2H5, ERCC3, ERCC2
regulation of cellular biosynthetic process (GO:0031326)	1.38	3	GTF2H5, ERCC3, ERCC2
regulation of cellular component organization (GO:0051128)	2.01	3	GTF2H5, ERCC3, ERCC2
cellular biosynthetic process (GO:0044249)	1.37	3	GTF2H5, ERCC3, ERCC2
cellular component assembly (GO:0022607)	2.14	3	GTF2H5, ERCC3, ERCC2
global genome nucleotide-excision repair (GO:0070911)	6.26	3	GTF2H5, ERCC3, ERCC2
DNA-templated transcription, initiation (GO:0006352)	4.49	3	GTF2H5, ERCC3, ERCC2
positive regulation of protein complex assembly (GO:0031334)	4.44	3	GTF2H5, ERCC3, ERCC2
organic substance biosynthetic process (GO:1901576)	1.34	3	GTF2H5, ERCC3, ERCC2
nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)	6.68	3	GTF2H5, ERCC3, ERCC2
organic cyclic compound biosynthetic process (GO:1901362)	1.66	3	GTF2H5, ERCC3, ERCC2
regulation of biological process (GO:0050789)	0.45	3	GTF2H5, ERCC3, ERCC2
nucleic acid-templated transcription (GO:0097659)	1.91	3	GTF2H5, ERCC3, ERCC2
RNA biosynthetic process (GO:0032774)	1.84	3	GTF2H5, ERCC3, ERCC2
protein-DNA complex subunit organization (GO:0071824)	4.45	3	GTF2H5, ERCC3, ERCC2
macromolecular complex assembly (GO:0065003)	2.55	3	GTF2H5, ERCC3, ERCC2
cellular response to stimulus (GO:0051716)	1.97	3	GTF2H5, ERCC3, ERCC2
nucleotide-excision repair, preincision complex stabilization (GO:0006293)	6.68	3	GTF2H5, ERCC3, ERCC2
regulation of cellular component biogenesis (GO:0044087)	3.08	3	GTF2H5, ERCC3, ERCC2
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	3	GTF2H5, ERCC3, ERCC2
nucleotide-excision repair, DNA incision (GO:0033683)	6.07	3	GTF2H5, ERCC3, ERCC2
transcription initiation from RNA polymerase I promoter (GO:0006361)	6.23	3	GTF2H5, ERCC3, ERCC2
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	3	GTF2H5, ERCC3, ERCC2
termination of RNA polymerase I transcription (GO:0006363)	6.29	3	GTF2H5, ERCC3, ERCC2
transcription elongation from RNA polymerase I promoter (GO:0006362)	6.33	3	GTF2H5, ERCC3, ERCC2
biological regulation (GO:0065007)	0.39	3	GTF2H5, ERCC3, ERCC2
single-organism process (GO:0044699)	0.48	3	ERCC3, MPLKIP, ERCC2
transcription initiation from RNA polymerase II promoter (GO:0006367)	4.7	3	GTF2H5, ERCC3, ERCC2
transcription from RNA polymerase II promoter (GO:0006366)	3.38	3	GTF2H5, ERCC3, ERCC2
positive regulation of biological process (GO:0048518)	1.2	3	GTF2H5, ERCC3, ERCC2
transcription elongation from RNA polymerase II promoter (GO:0006368)	5.32	3	GTF2H5, ERCC3, ERCC2
regulation of gene expression (GO:0010468)	1.37	3	GTF2H5, ERCC3, ERCC2
heterocycle biosynthetic process (GO:0018130)	1.7	3	GTF2H5, ERCC3, ERCC2
positive regulation of cellular component organization (GO:0051130)	2.68	3	GTF2H5, ERCC3, ERCC2
DNA geometric change (GO:0032392)	5.31	3	GTF2H5, ERCC3, ERCC2
transcription-coupled nucleotide-excision repair (GO:0006283)	5.44	3	GTF2H5, ERCC3, ERCC2
biosynthetic process (GO:0009058)	1.32	3	GTF2H5, ERCC3, ERCC2
DNA repair (GO:0006281)	3.59	3	GTF2H5, ERCC3, ERCC2
regulation of macromolecule metabolic process (GO:0060255)	1.08	3	GTF2H5, ERCC3, ERCC2
regulation of cellular metabolic process (GO:0031323)	1.07	3	GTF2H5, ERCC3, ERCC2
DNA duplex unwinding (GO:0032508)	5.37	3	GTF2H5, ERCC3, ERCC2
protein-DNA complex assembly (GO:0065004)	4.6	3	GTF2H5, ERCC3, ERCC2
regulation of biosynthetic process (GO:0009889)	1.37	3	GTF2H5, ERCC3, ERCC2
regulation of nucleic acid-templated transcription (GO:1903506)	1.55	3	GTF2H5, ERCC3, ERCC2
nucleotide-excision repair (GO:0006289)	5.05	3	GTF2H5, ERCC3, ERCC2
cellular macromolecule biosynthetic process (GO:0034645)	1.66	3	GTF2H5, ERCC3, ERCC2
response to stress (GO:0006950)	1.8	3	GTF2H5, ERCC3, ERCC2
macromolecule biosynthetic process (GO:0009059)	1.61	3	GTF2H5, ERCC3, ERCC2
single-organism cellular process (GO:0044763)	0.65	3	ERCC3, MPLKIP, ERCC2
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	3	GTF2H5, ERCC3, ERCC2
regulation of RNA biosynthetic process (GO:2001141)	1.55	3	GTF2H5, ERCC3, ERCC2
nucleobase-containing compound biosynthetic process (GO:0034654)	1.72	3	GTF2H5, ERCC3, ERCC2
regulation of protein complex assembly (GO:0043254)	3.83	3	GTF2H5, ERCC3, ERCC2
regulation of cellular process (GO:0050794)	0.5	3	GTF2H5, ERCC3, ERCC2
response to abiotic stimulus (GO:0009628)	2.8	3	GTF2H5, ERCC3, ERCC2
cellular response to DNA damage stimulus (GO:0006974)	3.17	3	GTF2H5, ERCC3, ERCC2
cellular nitrogen compound biosynthetic process (GO:0044271)	1.59	3	GTF2H5, ERCC3, ERCC2
chromosome organization (GO:0051276)	3.79	3	GTF2H5, ERCC3, ERCC2
nucleic acid phosphodiester bond hydrolysis (GO:0090305)	4.12	3	GTF2H5, ERCC3, ERCC2
response to stimulus (GO:0050896)	1.22	3	GTF2H5, ERCC3, ERCC2
regulation of RNA metabolic process (GO:0051252)	1.52	3	GTF2H5, ERCC3, ERCC2
nucleotide-excision repair, DNA duplex unwinding (GO:0000717)	6.64	3	GTF2H5, ERCC3, ERCC2
DNA-templated transcription, elongation (GO:0006354)	5.15	3	GTF2H5, ERCC3, ERCC2
regulation of transcription, DNA-templated (GO:0006355)	1.56	3	GTF2H5, ERCC3, ERCC2
7-methylguanosine mRNA capping (GO:0006370)	6.23	3	GTF2H5, ERCC3, ERCC2
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	3	GTF2H5, ERCC3, ERCC2
transcription, DNA-templated (GO:0006351)	1.91	3	GTF2H5, ERCC3, ERCC2
cellular response to stress (GO:0033554)	2.51	3	GTF2H5, ERCC3, ERCC2
DNA-templated transcription, termination (GO:0006353)	5.12	3	GTF2H5, ERCC3, ERCC2
DNA metabolic process (GO:0006259)	3.09	3	GTF2H5, ERCC3, ERCC2
aromatic compound biosynthetic process (GO:0019438)	1.7	3	GTF2H5, ERCC3, ERCC2
positive regulation of cellular component biogenesis (GO:0044089)	3.71	3	GTF2H5, ERCC3, ERCC2
positive regulation of cellular process (GO:0048522)	1.3	3	GTF2H5, ERCC3, ERCC2
developmental process (GO:0032502)	1.36	2	ERCC3, ERCC2
anatomical structure development (GO:0048856)	1.58	2	ERCC3, ERCC2
positive regulation of metabolic process (GO:0009893)	1.74	2	ERCC3, ERCC2
positive regulation of biosynthetic process (GO:0009891)	2.29	2	ERCC3, ERCC2
phosphorylation (GO:0016310)	2.63	2	ERCC3, ERCC2
positive regulation of cellular metabolic process (GO:0031325)	1.81	2	ERCC3, ERCC2
cell differentiation (GO:0030154)	2.14	2	ERCC3, ERCC2
response to UV (GO:0009411)	4.88	2	ERCC3, ERCC2
response to light stimulus (GO:0009416)	4.08	2	ERCC3, ERCC2
regulation of mitotic cell cycle phase transition (GO:1901990)	4.23	2	ERCC3, ERCC2
UV protection (GO:0009650)	7.24	2	ERCC3, ERCC2
ncRNA metabolic process (GO:0034660)	3.44	2	RNF113A, GTF2H5
cell death (GO:0008219)	3.05	2	ERCC3, ERCC2
response to hypoxia (GO:0001666)	4.13	2	ERCC3, ERCC2
cell division (GO:0051301)	3.68	2	MPLKIP, ERCC2
hair cell differentiation (GO:0035315)	7.02	2	ERCC3, ERCC2
cellular protein metabolic process (GO:0044267)	1.63	2	ERCC3, ERCC2
regulation of mitotic cell cycle (GO:0007346)	3.71	2	ERCC3, ERCC2
positive regulation of macromolecule metabolic process (GO:0010604)	1.81	2	ERCC3, ERCC2
regulation of transcription from RNA polymerase II promoter (GO:0006357)	2.24	2	ERCC3, ERCC2
cellular developmental process (GO:0048869)	1.82	2	ERCC3, ERCC2
positive regulation of cellular biosynthetic process (GO:0031328)	2.3	2	ERCC3, ERCC2
regulation of cell cycle process (GO:0010564)	3.5	2	ERCC3, ERCC2
phosphate-containing compound metabolic process (GO:0006796)	2.16	2	ERCC3, ERCC2
interspecies interaction between organisms (GO:0044419)	3.08	2	ERCC3, ERCC2
animal organ development (GO:0048513)	2.53	2	ERCC3, ERCC2
epithelial cell differentiation (GO:0030855)	3.98	2	ERCC3, ERCC2
response to oxygen levels (GO:0070482)	4.02	2	ERCC3, ERCC2
positive regulation of nucleic acid-templated transcription (GO:1903508)	2.56	2	ERCC3, ERCC2
protein phosphorylation (GO:0006468)	2.89	2	ERCC3, ERCC2
ncRNA processing (GO:0034470)	3.77	2	RNF113A, GTF2H5
neuron differentiation (GO:0030182)	4.17	2	ERCC3, ERCC2
apoptotic process (GO:0006915)	3.14	2	ERCC3, ERCC2
cellular protein modification process (GO:0006464)	1.79	2	ERCC3, ERCC2
single-organism developmental process (GO:0044767)	1.49	2	ERCC3, ERCC2
programmed cell death (GO:0012501)	3.1	2	ERCC3, ERCC2
macromolecule modification (GO:0043412)	1.73	2	ERCC3, ERCC2
protein modification process (GO:0036211)	1.79	2	ERCC3, ERCC2
positive regulation of transcription, DNA-templated (GO:0045893)	2.56	2	ERCC3, ERCC2
positive regulation of nitrogen compound metabolic process (GO:0051173)	2.29	2	ERCC3, ERCC2
multi-organism cellular process (GO:0044764)	3.14	2	ERCC3, ERCC2
positive regulation of nucleobase-containing compound metabolic process (GO:0045935)	2.35	2	ERCC3, ERCC2
response to oxidative stress (GO:0006979)	3.9	2	ERCC3, ERCC2
multi-organism process (GO:0051704)	2.65	2	ERCC3, ERCC2
regulation of cell cycle phase transition (GO:1901987)	4.15	2	ERCC3, ERCC2
protein metabolic process (GO:0019538)	1.45	2	ERCC3, ERCC2
response to decreased oxygen levels (GO:0036293)	4.09	2	ERCC3, ERCC2
regulation of cell cycle (GO:0051726)	2.93	2	ERCC3, ERCC2
positive regulation of RNA metabolic process (GO:0051254)	2.51	2	ERCC3, ERCC2
positive regulation of RNA biosynthetic process (GO:1902680)	2.54	2	ERCC3, ERCC2
epidermal cell differentiation (GO:0009913)	5.13	2	ERCC3, ERCC2
positive regulation of macromolecule biosynthetic process (GO:0010557)	2.39	2	ERCC3, ERCC2
positive regulation of gene expression (GO:0010628)	2.35	2	ERCC3, ERCC2
positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	2.81	2	ERCC3, ERCC2
viral process (GO:0016032)	3.15	2	ERCC3, ERCC2
phosphorus metabolic process (GO:0006793)	2.15	2	ERCC3, ERCC2
symbiosis, encompassing mutualism through parasitism (GO:0044403)	3.15	2	ERCC3, ERCC2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
RNA capping (GO:0036260)	-	6.2	0.014	ERCC3, ERCC2
response to radiation (GO:0009314)	-	3.69	0.015	GTF2H5, ERCC3, ERCC2
7-methylguanosine RNA capping (GO:0009452)	-	6.2	0.014	ERCC3, ERCC2
UV protection (GO:0009650)	-	7.24	0.003	ERCC3, ERCC2
positive regulation of viral transcription (GO:0050434)	NEW	6.07	0.014	ERCC3, ERCC2
hair cell differentiation (GO:0035315)	-	7.02	0.001	ERCC3, ERCC2
DNA excision (GO:0044349)	NEW	9.73	0.007	ERCC3, ERCC2
nucleotide-excision repair, DNA incision (GO:0033683)	-	6.07	0.0	ERCC3, ERCC2
transcription initiation from RNA polymerase I promoter (GO:0006361)	-	6.23	0.009	ERCC3, ERCC2
transcription from RNA polymerase I promoter (GO:0006360)	NEW	8.12	0.016	ERCC3, ERCC2
termination of RNA polymerase I transcription (GO:0006363)	-	6.29	0.003	ERCC3, ERCC2
transcription elongation from RNA polymerase I promoter (GO:0006362)	-	6.33	0.0	GTF2H5, ERCC3, ERCC2
regulation of viral transcription (GO:0046782)	NEW	5.62	0.029	ERCC3, ERCC2
transcription elongation from RNA polymerase II promoter (GO:0006368)	-	5.32	0.023	ERCC3, ERCC2
DNA geometric change (GO:0032392)	-	5.31	0.017	ERCC3, ERCC2
transcription-coupled nucleotide-excision repair (GO:0006283)	-	5.44	0.039	ERCC3, ERCC2
DNA repair (GO:0006281)	-	3.59	0.013	GTF2H5, ERCC3, ERCC2
DNA duplex unwinding (GO:0032508)	-	5.37	0.016	ERCC3, ERCC2
nucleotide-excision repair (GO:0006289)	-	5.05	0.0	GTF2H5, ERCC3, ERCC2
positive regulation of multi-organism process (GO:0043902)	NEW	4.68	0.042	ERCC3, ERCC2
nucleotide-excision repair, DNA damage removal (GO:0000718)	NEW	9.73	0.007	ERCC3, ERCC2
epidermal cell differentiation (GO:0009913)	-	5.13	0.029	ERCC3, ERCC2
DNA-templated transcription, elongation (GO:0006354)	-	5.15	0.0	GTF2H5, ERCC3, ERCC2
7-methylguanosine mRNA capping (GO:0006370)	-	6.23	0.005	ERCC3, ERCC2
DNA-templated transcription, termination (GO:0006353)	-	5.12	0.036	ERCC3, ERCC2
positive regulation of viral process (GO:0048524)	NEW	5.11	0.032	ERCC3, ERCC2

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
intracellular organelle part (GO:0044446)	0.81	5	RNF113A, GTF2H5, ERCC3, MPLKIP, ERCC2
nuclear part (GO:0044428)	1.55	5	RNF113A, GTF2H5, ERCC3, MPLKIP, ERCC2
intracellular part (GO:0044424)	0.28	5	RNF113A, GTF2H5, ERCC3, MPLKIP, ERCC2
cell part (GO:0044464)	0.11	5	RNF113A, GTF2H5, ERCC3, MPLKIP, ERCC2
organelle part (GO:0044422)	0.79	5	RNF113A, GTF2H5, ERCC3, MPLKIP, ERCC2
macromolecular complex (GO:0032991)	1.35	4	RNF113A, GTF2H5, ERCC3, ERCC2
intracellular membrane-bounded organelle (GO:0043231)	0.6	4	GTF2H5, ERCC3, MPLKIP, ERCC2
nucleus (GO:0005634)	1.07	4	GTF2H5, ERCC3, MPLKIP, ERCC2
nucleoplasm (GO:0005654)	1.89	4	GTF2H5, ERCC3, MPLKIP, ERCC2
intracellular organelle (GO:0043229)	0.51	4	GTF2H5, ERCC3, MPLKIP, ERCC2
membrane-bounded organelle (GO:0043227)	0.47	4	GTF2H5, ERCC3, MPLKIP, ERCC2
organelle (GO:0043226)	0.4	4	GTF2H5, ERCC3, MPLKIP, ERCC2
protein complex (GO:0043234)	1.51	3	GTF2H5, ERCC3, ERCC2
core TFIIH complex (GO:0000439)	7.72	3	GTF2H5, ERCC3, ERCC2
non-membrane-bounded organelle (GO:0043228)	1.76	3	GTF2H5, MPLKIP, ERCC2
intracellular non-membrane-bounded organelle (GO:0043232)	1.76	3	GTF2H5, MPLKIP, ERCC2
cytoskeleton (GO:0005856)	2.55	2	MPLKIP, ERCC2
carboxy-terminal domain protein kinase complex (GO:0032806)	6.71	2	ERCC3, ERCC2
catalytic complex (GO:1902494)	2.9	2	ERCC3, ERCC2
transferase complex, transferring phosphorus-containing groups (GO:0061695)	4.61	2	ERCC3, ERCC2
protein kinase complex (GO:1902911)	5.31	2	ERCC3, ERCC2
serine/threonine protein kinase complex (GO:1902554)	5.45	2	ERCC3, ERCC2
nuclear transcription factor complex (GO:0044798)	4.95	2	ERCC3, ERCC2
cytoplasm (GO:0005737)	1.01	2	MPLKIP, ERCC2
RNA polymerase II transcription factor complex (GO:0090575)	5.18	2	ERCC3, ERCC2
cytoskeletal part (GO:0044430)	2.49	2	MPLKIP, ERCC2
nucleoplasm part (GO:0044451)	3.22	2	ERCC3, ERCC2
transcription factor complex (GO:0005667)	4.1	2	ERCC3, ERCC2
transferase complex (GO:1990234)	3.32	2	ERCC3, ERCC2
holo TFIIH complex (GO:0005675)	7.32	2	ERCC3, ERCC2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
carboxy-terminal domain protein kinase complex (GO:0032806)	-	6.71	0.0	ERCC3, ERCC2
protein kinase complex (GO:1902911)	-	5.31	0.034	ERCC3, ERCC2
serine/threonine protein kinase complex (GO:1902554)	-	5.45	0.017	ERCC3, ERCC2
nuclear transcription factor complex (GO:0044798)	-	4.95	0.023	ERCC3, ERCC2
RNA polymerase II transcription factor complex (GO:0090575)	-	5.18	0.002	ERCC3, ERCC2
transcription factor complex (GO:0005667)	-	4.1	0.041	ERCC3, ERCC2
holo TFIIH complex (GO:0005675)	-	7.32	0.0	ERCC3, ERCC2