Gene table of ERCC6 : ERCC excision repair 6, chromatin remodeling factor

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ERCC6	OMIM link	Number of associated genes	genes
211980	LUNG CANCER	OMIM	link to OMIM	17	RASSF1, PARK2, IRF1, DLEC1, ERBB2, CYP2A6, PPP2R1B, MAP3K8, PIK3CA, BRAF, KRAS, SLC22A18, ERCC6, FASLG, CASP8, MXRA5, EGFR
PS603075	MACULAR DEGENERATION, AGE-RELATED	ClinVar, OMIM	link to OMIM	19	RAX2, HMCN1, ERCC6, TLR4, CFHR3, CFI, CFHR1, CFH, C3, HTRA1, ABCA4, CX3CR1, FBLN5, C2, CFB, CST3, APOE, ARMS2, C9
PS600630	UV-SENSITIVE SYNDROME	ClinVar, OMIM	link to OMIM	3	UVSSA, ERCC8, ERCC6
133540	COCKAYNE SYNDROME B	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ERCC6
PS214150	CEREBROOCULOFACIOSKELETAL SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	ERCC1, ERCC5, ERCC6, ERCC2
278800	DE SANCTIS-CACCHIONE SYNDROME	OMIM	link to OMIM	1	ERCC6

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Annotation of the gene ERCC6

Associated genes in ENSEMBL

ENSG00000225830

Associated proteins - SwissProt Accession ID

Q03468

Associated PDB IDs

4cvo

Cytogenetic Band

10q11.23

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Nucleotide excision repair	hsa03420	7.15

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Gene Expression	R-HSA-74160	2.72
Dual incision reaction in TC-NER	R-HSA-110304	8.12
Formation of transcription-coupled NER (TC-NER) repair complex	R-HSA-110302	8.12
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription	R-HSA-504046	6.16
Transcription-coupled NER (TC-NER)	R-HSA-73937	7.49
RNA Polymerase I Transcription Initiation	R-HSA-73762	7.43
DNA Repair	R-HSA-73894	5.8
RNA Polymerase I Transcription	R-HSA-73864	6.72
Nucleotide Excision Repair	R-HSA-73885	7.34
RNA Polymerase I Promoter Clearance	R-HSA-73854	6.75

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein C-terminus binding	GO:0008022	4.5
kinase regulator activity	GO:0019207	4.5
purine ribonucleoside triphosphate binding	GO:0035639	2.22
kinase activator activity	GO:0019209	5.58
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
DNA helicase activity	GO:0003678	5.73
molecular function regulator	GO:0098772	2.51
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
ATPase activity, coupled	GO:0042623	3.97
nucleotide binding	GO:0000166	1.96
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
protein complex binding	GO:0032403	3.09
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
protein kinase regulator activity	GO:0019887	4.6
enzyme regulator activity	GO:0030234	2.85
nucleoside-triphosphatase activity	GO:0017111	3.09
helicase activity	GO:0004386	4.69
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
protein kinase activator activity	GO:0030295	5.68
protein tyrosine kinase activator activity	GO:0030296	6.91
DNA-dependent ATPase activity	GO:0008094	5.31
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
protein N-terminus binding	GO:0047485	5.11
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
ATPase activity	GO:0016887	3.65
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
chromatin binding	GO:0003682	3.64
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
enzyme activator activity	GO:0008047	3.56