Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1161
Gene name Gene Name - the full gene name approved by the HGNC.	ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ERCC8
Synonyms (NCBI Gene) Gene synonyms aliases	CKN1, CSA, UVSS2
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q12.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary d

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61754098	G>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs121434323	G>C,T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs121434325	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs148393161	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs150727525	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs201464610	C>A,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs281875221	C>A	Pathogenic, not-provided	Missense variant, coding sequence variant, genic downstream transcript variant
rs372237310	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs748379243	T>A,C	Pathogenic	Splice acceptor variant
rs753663016	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs770499406	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs786205176	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs786205573	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs897535441	C>G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1043679457	C>A,G,T	Pathogenic	Intron variant
rs1057520280	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1305258765	C>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1468231556	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1476095782	C>T	Likely-pathogenic	Splice donor variant
rs1482664387	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554072713	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554073117	T>A,C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554073175	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554073177	->TCTCA	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1554073309	A>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1554073311	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1554073316	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554073420	T>C	Likely-pathogenic	Splice acceptor variant
rs1561502158	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1580007152	C>G	Pathogenic	Intron variant, splice donor variant

Show/Hide all(146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005022	hsa-miR-521	Western blot	18668526
MIRT029207	hsa-miR-26b-5p	Microarray	19088304
MIRT560099	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT560098	hsa-miR-3688-3p	PAR-CLIP	20371350
MIRT560097	hsa-miR-4802-5p	PAR-CLIP	20371350
MIRT560096	hsa-miR-6514-5p	PAR-CLIP	20371350
MIRT560095	hsa-miR-4772-3p	PAR-CLIP	20371350
MIRT560093	hsa-miR-2276-3p	PAR-CLIP	20371350
MIRT560094	hsa-miR-4645-3p	PAR-CLIP	20371350
MIRT560092	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560091	hsa-miR-6077	PAR-CLIP	20371350
MIRT560090	hsa-miR-4653-3p	PAR-CLIP	20371350
MIRT560089	hsa-miR-544a	PAR-CLIP	20371350
MIRT560088	hsa-miR-6738-3p	PAR-CLIP	20371350
MIRT526876	hsa-miR-3133	PAR-CLIP	22012620
MIRT526875	hsa-miR-186-5p	PAR-CLIP	22012620
MIRT526874	hsa-miR-758-5p	PAR-CLIP	22012620
MIRT526873	hsa-miR-7852-3p	PAR-CLIP	22012620
MIRT526872	hsa-miR-4790-3p	PAR-CLIP	22012620
MIRT526871	hsa-miR-380-5p	PAR-CLIP	22012620
MIRT526870	hsa-miR-563	PAR-CLIP	22012620
MIRT526869	hsa-miR-4789-5p	PAR-CLIP	22012620
MIRT526868	hsa-miR-1261	PAR-CLIP	22012620
MIRT560099	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT560098	hsa-miR-3688-3p	PAR-CLIP	20371350
MIRT560097	hsa-miR-4802-5p	PAR-CLIP	20371350
MIRT560096	hsa-miR-6514-5p	PAR-CLIP	20371350
MIRT560095	hsa-miR-4772-3p	PAR-CLIP	20371350
MIRT560093	hsa-miR-2276-3p	PAR-CLIP	20371350
MIRT560094	hsa-miR-4645-3p	PAR-CLIP	20371350
MIRT560092	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560091	hsa-miR-6077	PAR-CLIP	20371350
MIRT560090	hsa-miR-4653-3p	PAR-CLIP	20371350
MIRT560089	hsa-miR-544a	PAR-CLIP	20371350
MIRT560088	hsa-miR-6738-3p	PAR-CLIP	20371350
MIRT526876	hsa-miR-3133	PAR-CLIP	22012620
MIRT526875	hsa-miR-186-5p	PAR-CLIP	22012620
MIRT526874	hsa-miR-758-5p	PAR-CLIP	22012620
MIRT526873	hsa-miR-7852-3p	PAR-CLIP	22012620
MIRT526872	hsa-miR-4790-3p	PAR-CLIP	22012620
MIRT526871	hsa-miR-380-5p	PAR-CLIP	22012620
MIRT526870	hsa-miR-563	PAR-CLIP	22012620
MIRT526869	hsa-miR-4789-5p	PAR-CLIP	22012620
MIRT526868	hsa-miR-1261	PAR-CLIP	22012620
MIRT968594	hsa-miR-1273e	CLIP-seq
MIRT968595	hsa-miR-133a	CLIP-seq
MIRT968596	hsa-miR-133b	CLIP-seq
MIRT968597	hsa-miR-1827	CLIP-seq
MIRT968598	hsa-miR-27a	CLIP-seq
MIRT968599	hsa-miR-27b	CLIP-seq
MIRT968600	hsa-miR-3120-3p	CLIP-seq
MIRT968601	hsa-miR-3145-3p	CLIP-seq
MIRT968602	hsa-miR-3929	CLIP-seq
MIRT968603	hsa-miR-4310	CLIP-seq
MIRT968604	hsa-miR-4419b	CLIP-seq
MIRT968605	hsa-miR-4452	CLIP-seq
MIRT968606	hsa-miR-4478	CLIP-seq
MIRT968607	hsa-miR-4503	CLIP-seq
MIRT968608	hsa-miR-4690-5p	CLIP-seq
MIRT968609	hsa-miR-513a-5p	CLIP-seq
MIRT968610	hsa-miR-544	CLIP-seq
MIRT968611	hsa-miR-556-3p	CLIP-seq
MIRT968612	hsa-miR-940	CLIP-seq
MIRT968600	hsa-miR-3120-3p	CLIP-seq
MIRT2221494	hsa-miR-3938	CLIP-seq
MIRT2525070	hsa-let-7a	CLIP-seq
MIRT2525071	hsa-let-7b	CLIP-seq
MIRT2525072	hsa-let-7c	CLIP-seq
MIRT2525073	hsa-let-7d	CLIP-seq
MIRT2525074	hsa-let-7e	CLIP-seq
MIRT2525075	hsa-let-7f	CLIP-seq
MIRT2525076	hsa-let-7g	CLIP-seq
MIRT2525077	hsa-let-7i	CLIP-seq
MIRT2525078	hsa-miR-1183	CLIP-seq
MIRT2525079	hsa-miR-1290	CLIP-seq
MIRT2525080	hsa-miR-1915	CLIP-seq
MIRT2525081	hsa-miR-1972	CLIP-seq
MIRT2525082	hsa-miR-202	CLIP-seq
MIRT2525083	hsa-miR-217	CLIP-seq
MIRT2525084	hsa-miR-3137	CLIP-seq
MIRT2525085	hsa-miR-3152-3p	CLIP-seq
MIRT2525086	hsa-miR-3158-3p	CLIP-seq
MIRT2525087	hsa-miR-3163	CLIP-seq
MIRT2525088	hsa-miR-3192	CLIP-seq
MIRT2525089	hsa-miR-3616-3p	CLIP-seq
MIRT2525090	hsa-miR-3672	CLIP-seq
MIRT2525091	hsa-miR-3908	CLIP-seq
MIRT2525092	hsa-miR-3942-5p	CLIP-seq
MIRT2525093	hsa-miR-3974	CLIP-seq
MIRT2525094	hsa-miR-4314	CLIP-seq
MIRT2525095	hsa-miR-4422	CLIP-seq
MIRT2525096	hsa-miR-4458	CLIP-seq
MIRT2525097	hsa-miR-4500	CLIP-seq
MIRT2525098	hsa-miR-450b-3p	CLIP-seq
MIRT2525099	hsa-miR-4646-5p	CLIP-seq
MIRT2525100	hsa-miR-4668-3p	CLIP-seq
MIRT2525101	hsa-miR-4686	CLIP-seq
MIRT2525102	hsa-miR-4703-5p	CLIP-seq
MIRT2525103	hsa-miR-4713-3p	CLIP-seq
MIRT2525104	hsa-miR-4717-5p	CLIP-seq
MIRT2525105	hsa-miR-4721	CLIP-seq
MIRT2525106	hsa-miR-4726-3p	CLIP-seq
MIRT2525107	hsa-miR-4766-3p	CLIP-seq
MIRT2525108	hsa-miR-493	CLIP-seq
MIRT2525109	hsa-miR-5096	CLIP-seq
MIRT2525110	hsa-miR-581	CLIP-seq
MIRT2525111	hsa-miR-638	CLIP-seq
MIRT2525112	hsa-miR-769-3p	CLIP-seq
MIRT2525113	hsa-miR-98	CLIP-seq
MIRT2525070	hsa-let-7a	CLIP-seq
MIRT2525071	hsa-let-7b	CLIP-seq
MIRT2525072	hsa-let-7c	CLIP-seq
MIRT2525073	hsa-let-7d	CLIP-seq
MIRT2525074	hsa-let-7e	CLIP-seq
MIRT2525075	hsa-let-7f	CLIP-seq
MIRT2525076	hsa-let-7g	CLIP-seq
MIRT2525077	hsa-let-7i	CLIP-seq
MIRT2525078	hsa-miR-1183	CLIP-seq
MIRT2525079	hsa-miR-1290	CLIP-seq
MIRT2680255	hsa-miR-1914	CLIP-seq
MIRT2525082	hsa-miR-202	CLIP-seq
MIRT2525083	hsa-miR-217	CLIP-seq
MIRT2525084	hsa-miR-3137	CLIP-seq
MIRT2525085	hsa-miR-3152-3p	CLIP-seq
MIRT2525086	hsa-miR-3158-3p	CLIP-seq
MIRT2525087	hsa-miR-3163	CLIP-seq
MIRT2525089	hsa-miR-3616-3p	CLIP-seq
MIRT2525090	hsa-miR-3672	CLIP-seq
MIRT2525091	hsa-miR-3908	CLIP-seq
MIRT2525092	hsa-miR-3942-5p	CLIP-seq
MIRT2525093	hsa-miR-3974	CLIP-seq
MIRT2525095	hsa-miR-4422	CLIP-seq
MIRT2525096	hsa-miR-4458	CLIP-seq
MIRT2525097	hsa-miR-4500	CLIP-seq
MIRT2525100	hsa-miR-4668-3p	CLIP-seq
MIRT2680256	hsa-miR-4679	CLIP-seq
MIRT2525101	hsa-miR-4686	CLIP-seq
MIRT2525102	hsa-miR-4703-5p	CLIP-seq
MIRT2680257	hsa-miR-4719	CLIP-seq
MIRT2525105	hsa-miR-4721	CLIP-seq
MIRT2525107	hsa-miR-4766-3p	CLIP-seq
MIRT2525108	hsa-miR-493	CLIP-seq
MIRT2525109	hsa-miR-5096	CLIP-seq
MIRT2680258	hsa-miR-513b	CLIP-seq
MIRT2525110	hsa-miR-581	CLIP-seq
MIRT2525113	hsa-miR-98	CLIP-seq

Show/Hide all(45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000012	Process	Single strand break repair	IDA	29545921
GO:0000109	Component	Nucleotide-excision repair complex	IBA
GO:0000109	Component	Nucleotide-excision repair complex	IDA	12732143
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IDA	12732143
GO:0005515	Function	Protein binding	IPI	7664335, 10944529, 12732143, 16949367, 22466612, 32814053
GO:0005634	Component	Nucleus	IDA	32355176
GO:0005634	Component	Nucleus	IDA	11782547
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IBA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IDA	12732143
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IDA	32142649, 32355176, 34526721, 38316879, 38600235
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IEA
GO:0006974	Process	DNA damage response	IDA	11782547
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IDA	11782547
GO:0006979	Process	Response to oxidative stress	IMP	17297471
GO:0009411	Process	Response to UV	IDA	12732143
GO:0009411	Process	Response to UV	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009411	Process	Response to UV	IMP	7664335
GO:0010165	Process	Response to X-ray	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0016363	Component	Nuclear matrix	IDA	11782547, 26620705
GO:0016363	Component	Nuclear matrix	IEA
GO:0016567	Process	Protein ubiquitination	IDA	34526721
GO:0016567	Process	Protein ubiquitination	IDA	34526721
GO:0016567	Process	Protein ubiquitination	IEA
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IBA
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IDA	12732143
GO:0032991	Component	Protein-containing complex	IDA	12732143
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	16751180
GO:0043204	Component	Perikaryon	IEA
GO:0045739	Process	Positive regulation of DNA repair	IMP	7664335
GO:0051865	Process	Protein autoubiquitination	IDA	12732143
GO:0080008	Component	Cul4-RING E3 ubiquitin ligase complex	IDA	32355176, 34526721
GO:0080008	Component	Cul4-RING E3 ubiquitin ligase complex	IMP	16949367
GO:0090262	Process	Regulation of transcription-coupled nucleotide-excision repair	IMP	17297471
GO:0090734	Component	Site of DNA damage	IDA	32355176
GO:0097680	Process	Double-strand break repair via classical nonhomologous end joining	IDA	29545921
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	12732143, 32142649, 34526721, 38316879

MIM	HGNC	e!Ensembl
609412	3439	ENSG00000049167

Protein

UniProt ID

Q13216

Protein name

DNA excision repair protein ERCC-8 (Cockayne syndrome WD repeat protein CSA)

Protein function

Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are

PDB

4A11 , 6FCV , 7OO3 , 7OOB , 7OOP , 7OPC , 7OPD , 8B3D , 8B3F , 8B3G , 8B3I , 8QH5 , 9BZ0 , 9ER2 , 9FD2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	85 → 128	WD domain, G-beta repeat	Repeat
PF00400	WD40	176 → 215	WD domain, G-beta repeat	Repeat
PF00400	WD40	222 → 273	WD domain, G-beta repeat	Repeat
PF00400	WD40	324 → 362	WD domain, G-beta repeat	Repeat

Sequence

MLGFLSARQTGLEDPLRLRRAESTRRVLGLELNKDRDVERIHGGGINTLDIEPVEGRYML
SGGSDGVIVLYDLENSSRQSYYTCKAVCSIGRDHPDVHRYSVETVQWYPHDTGMFTSSSF
DKTLKVWDTNTLQTADVFNFEETVYSHHMSPVSTKHCLVAVGTRGPKVQLCDLKSGSCSH
ILQGHRQEILAVSWSPRYDYILATASADSRVKLWDVRRASGCLITLDQHNGKKSQAVESA
NTAHNGKVNGLCFTSDGLHLLTVGTDNRMRLWNSSNGENTLVNYGKVCNNSKKGLKFTVS
CGCSSEFVFVPYGSTIAVYTVYSGEQITMLKGHYKTVDCCVFQSNFQELYSGSRDCNILA
WVPSLYEPVPDDDETTTKSQLNPAFEDAWSSSDEEG

Sequence length

396

Interactions

View interactions

	KEGG		Reactome
	Nucleotide excision repair Ubiquitin mediated proteolysis		Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER Neddylation

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cockayne Syndrome	cockayne syndrome type 1, cockayne syndrome	rs1554076239, rs770499406, rs1131691783, rs897535441, rs121434323, rs1580023012, rs1482664387, rs1554073420, rs1561502158, rs1305258765, rs1554074597, rs148393161, rs121434325, rs1554073117, rs1476095782 View all (17 more)	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Deafness	Autosomal recessive nonsyndromic hearing loss 1A	N/A	N/A	ClinVar
Esophageal Cancer	Esophageal cancer	Ultimately, we identified and validated ERCC8 as a novel cisplatin-resistant gene in ESCA.	35063774	CBGDA
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	37684436
Cardiomyopathy Dilated	Associate	32160415
Cataract	Associate	36454558
Cataract Age Related Nuclear	Stimulate	39209536
Cerebellar Ataxia	Associate	36231052
Chemical and Drug Induced Liver Injury	Associate	35248096
Cockayne Syndrome	Associate	10739753, 11443545, 12732143, 16246722, 16751180, 17055654, 19329487, 20541997, 22466610, 23623389, 24781187, 24874740, 25463447, 26038566, 28333167 View all (26 more)
Colorectal Neoplasms	Associate	33627384
Craniocerebral Trauma	Associate	28562347
Drug Hypersensitivity	Associate	19329487
Gastritis Atrophic	Associate	26130415, 28562347
Hamartoma Syndrome Multiple	Associate	29057985
Heart Diseases	Associate	32160415
Helicobacter Infections	Associate	26130415, 30249552
Hypoxia	Associate	32664519, 35455966
Keratoconus	Associate	36454558
Margins of Excision	Associate	27004399
Microcephaly	Associate	32160415
Neoplasms	Associate	26130415, 34440306
Neurocutaneous Syndromes	Associate	35254895
Neurodegenerative Diseases	Associate	19329487
Osteosarcoma	Associate	34440306
Progeria	Associate	39209536
Progeroid syndrome neonatal	Associate	39209536
Prostatic Neoplasms	Associate	18668526
Protein S Deficiency	Associate	19329487, 22466610, 26038566
Squamous Cell Carcinoma of Head and Neck	Associate	40076972
Stomach Neoplasms	Associate	26130415, 27340861, 28562347, 30249552, 30417012
UV Sensitive Syndrome	Associate	19329487, 26038566, 37688320
Xeroderma Pigmentosum	Associate	12732143

ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit)