Gene table of ERCC1 : ERCC excision repair 1, endonuclease non-catalytic subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ERCC1	OMIM link	Number of associated genes	genes
PS214150	CEREBROOCULOFACIOSKELETAL SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	ERCC1, ERCC5, ERCC6, ERCC2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Fanconi anemia pathway	hsa03460	7.01
Nucleotide excision repair	hsa03420	7.15

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Global Genomic NER (GG-NER)	R-HSA-109970	7.89
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
Transcription-coupled NER (TC-NER)	R-HSA-73937	7.49
Formation of incision complex in GG-NER	R-HSA-73935	8.59
Dual incision reaction in GG-NER	R-HSA-73941	8.59
DNA Repair	R-HSA-73894	5.8
Nucleotide Excision Repair	R-HSA-73885	7.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein C-terminus binding	GO:0008022	4.5
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
TFIID-class transcription factor binding	GO:0001094	7.95
RNA polymerase II basal transcription factor binding	GO:0001091	7.79
endodeoxyribonuclease activity	GO:0004520	5.81
basal transcription machinery binding	GO:0001098	6.44
basal RNA polymerase II transcription machinery binding	GO:0001099	6.44
single-stranded DNA binding	GO:0003697	5.17
hydrolase activity	GO:0016787	1.9
transcription factor binding	GO:0008134	3.46
structure-specific DNA binding	GO:0043566	4.98
hydrolase activity, acting on ester bonds	GO:0016788	3.1
catalytic activity	GO:0003824	1.05
protein domain specific binding	GO:0019904	3.32
RNA polymerase II transcription factor binding	GO:0001085	5.08
single-stranded DNA endodeoxyribonuclease activity	GO:0000014	7.79
nuclease activity	GO:0004518	4.33
endonuclease activity	GO:0004519	4.78
deoxyribonuclease activity	GO:0004536	5.48
protein binding	GO:0005515	0.46
organic cyclic compound binding	GO:0097159	1.05
damaged DNA binding	GO:0003684	5.58