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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ERCC8 Gene

protein-coding GIFtS: 65
GCID: GC05M060169

Excision Repair Cross-Complementing Rodent Repair Deficiency,...

(Previous name: Cockayne syndrome 1 (classical))
(Previous symbol: CKN1)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 8¹ ²		Cockayne Syndrome 1 (Classical)¹
CKN1¹ ² ³ ⁵		UVSS2²
CSA² ³ ⁵		Cockayne Syndrome WD-Repeat Protein CSA²
Cockayne Syndrome WD Repeat Protein CSA² ³		DNA Excision Repair Protein ERCC-8²

External Ids:	HGNC: 3439¹	Entrez Gene: 1161²	Ensembl: ENSG00000049167⁷	OMIM: 609412⁵	UniProtKB: Q13216³

Export aliases for ERCC8 gene to outside databases

Previous GC identifers: GC00U990095 GC05M060206 GC05M057127

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ERCC8 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 disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet

radiation and are defective in the repair of transcriptionally active genes. (provided by RefSeq, Jul 2008)

GeneCards Summary for ERCC8 Gene:

ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8) is a protein-coding gene. Diseases associated with ERCC8 include cockayne syndrome, and ercc8-related cockayne syndrome, and among its related super-pathways are Nucleotide Excision Repair and RNA Pol II CTD phosphorylation and interaction with CE. GO annotations related to this gene include ubiquitin-protein ligase activity and DNA-dependent ATPase activity.

UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216

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. The CSA complex (DCX(ERCC8) complex)

promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6

degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for

the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA

polymerase II-blocking lesions from the transcribed strand of active genes

Gene Wiki entry for ERCC8 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NT_006713.15 NC_018916.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ERCC8 gene promoter:
TBP Sox5 AML1a Nkx2-2 NF-YC XBP-1 Evi-1 HEN1 AREB6 MRF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ERCC8 promoter sequence

Search SABiosciences Chromatin IP Primers for ERCC8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ERCC8

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q12.1 Ensembl cytogenetic band: 5q12.1 HGNC cytogenetic band: 5q12.1

ERCC8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERCC8 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M060169: view genomic region (about GC identifiers)

Start:	60,169,658 bp from pter	End:	60,240,905 bp from pter
Size:	71,248 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216 (See protein sequence)

Recommended Name: DNA excision repair protein ERCC-8

Size: 396 amino acids; 44055 Da

Subunit: Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing ERCC8,

RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the

COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Interacts with ERCC6

and KIAA1530/UVSSA. Interacts with a subunit of RNA polymerase II TFIIH. Interacts with DDB1

Subcellular location: Nucleus (Probable)

1 PDB 3D structure from and Proteopedia for ERCC8:

4A11 (3D)

Secondary accessions: B2RB64 Q6FHX5 Q96GB9

Alternative splicing: 2 isoforms: Q13216-1 Q13216-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ERCC8: NX_Q13216

Explore proteomics data for ERCC8 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q13216

ERCC8 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_000073.1

ENSEMBL proteins:

ENSP00000370510 ENSP00000265038 ENSP00000408344 ENSP00000400110 ENSP00000441732

Reactome Protein details: Q13216
Human Recombinant Protein Products for ERCC8:

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	Cloud-Clone Corp. Proteins for ERCC8

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000109	nucleotide-excision repair complex	IDA	12732143
GO:0005634	nucleus	IDA	11782547
GO:0005654	nucleoplasm	TAS	--
GO:0016363	nuclear matrix	IDA	11782547
GO:0031464	Cul4A-RING ubiquitin ligase complex	IDA	12732143

ERCC8 for ontologies About GeneDecksing

ERCC8 Antibody Products:

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	Cloud-Clone Corp. ELISAs for ERCC8 Cloud-Clone Corp. CLIAs for ERCC8

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

WDR: WD repeat domain containing

5 InterPro protein domains:

IPR019775 WD40_repeat_CS

IPR001680 WD40_repeat

IPR020472 G-protein_beta_WD-40_rep

IPR017986 WD40_repeat_dom

IPR015943 WD40/YVTN_repeat-like_dom

Graphical View of Domain Structure for InterPro Entry Q13216

ProtoNet protein and cluster: Q13216

1 Blocks protein domain: IPB001680 G-protein beta WD-40 repeat signature

UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216

Similarity: Contains 5 WD repeats

ERCC8 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ERCC8_HUMAN, Q13216

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. The CSA complex (DCX(ERCC8) complex)

promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6

degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for

the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA

polymerase II-blocking lesions from the transcribed strand of active genes

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003678	NOT DNA helicase activity	IDA	8999876
GO:0004842	contributes to ubiquitin-protein ligase activity	IDA	12732143
GO:0005515	protein binding	IPI	10944529
GO:0008094	NOT DNA-dependent ATPase activity	IDA	8999876
GO:0032403	protein complex binding	IDA	16916636

ERCC8 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for ERCC8:

Decreased homologous recombina

Decreased viability of wild-ty

10 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ercc8):

cellular	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	mortality/aging	nervous system	tumorigenesis	vision/eye

ERCC8 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Ercc8^tm1Jhjh for ERCC8

inGenious Targeting Laboratory - Custom generated mouse model solutions for ERCC8

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ERCC8

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERCC8

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERCC8

miRNA Products:		miRTarBase miRNAs that target ERCC8: hsa-mir-521 (MIRT005022)

		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERCC8
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate ERCC8:
		hsa-miR-561 hsa-miR-1183 hsa-miR-32*
		SwitchGear 3'UTR luciferase reporter plasmid: ERCC8 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for ERCC8
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ERCC8
		Search LifeMap BioReagents cell lines for ERCC8

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC8

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for ERCC8 About

See pathways by source

SuperPath

Contained pathways About

Nucleotide Excision Repair

	Nucleotide Excision Repair	0.90			DNA Repair	0.46
	Transcription-coupled NER (TC-NER)	0.90

Formation of RNA Pol II elongation complex

Dual incision reaction in TC-NER

0.64

Formation of transcription-coupled NER (TC-NER) repair complex

0.64

Global Genomic NER (GG-NER)

Nucleotide excision repair

0.70

Antigen processing: Ubiquitination & Proteasome degradation

Ubiquitin mediated proteolysis

0.36

Pathways by source See SuperPaths
Show all pathways

5 Reactome Pathways for ERCC8

	DNA Repair
	Transcription-coupled NER (TC-NER)
	Formation of transcription-coupled NER (TC-NER) repair complex
	Dual incision reaction in TC-NER
	Nucleotide Excision Repair

2 Kegg Pathways (Kegg details for ERCC8):

	Nucleotide excision repair
	Ubiquitin mediated proteolysis

UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216

Pathway: Protein modification; protein ubiquitination

ERCC8 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ERCC8

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/70 Interacting proteins for ERCC8 (Q13216^{1, 2, 3} ENSP00000265038⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 70)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CSNK2B	P67870²^,³	MINT-8253264 I2D: score=2
ENSG00000206406	P67870²^,³	MINT-8253264 I2D: score=2
ENSG00000224398	P67870²^,³	MINT-8253264 I2D: score=2
ENSG00000224774	P67870²^,³	MINT-8253264 I2D: score=2
ENSG00000228875	P67870²^,³	MINT-8253264 I2D: score=2

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000209	protein polyubiquitination	IDA	12732143
GO:0006281	DNA repair	TAS	--
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	--
GO:0006289	nucleotide-excision repair	TAS	--
GO:0006974	response to DNA damage stimulus	IDA	11782547

ERCC8 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ERCC8

Search CenterWatch for drugs/clinical trials and news about ERCC8

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ERCC8 gene (3 alternative transcripts):

NM_000082.3 NM_001007233.1 NM_001007234.1

Unigene Cluster for ERCC8:

Excision repair cross-complementing rodent repair deficiency, complementation group 8

Hs.435237 [show with all ESTs]

Unigene Representative Sequence: AK226129

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000381118 ENST00000265038(uc003jsm.3 uc011cqp.1) ENST00000462279(uc003jsk.2)

ENST00000495985 ENST00000484330 ENST00000439176 ENST00000497892(uc003jsn.3)

ENST00000477893 ENST00000426742(uc003jsl.3) ENST00000543101

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		3 QIAGEN miScript miRNA Assays for microRNAs that regulate ERCC8:
		hsa-miR-561 hsa-miR-1183 hsa-miR-32*
		SwitchGear 3'UTR luciferase reporter plasmid: ERCC8 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional mRNA sequence:

AK056931.1 AK226129.1 AK290726.1 AK294856.1 AK304610.1 AK314511.1 BC009793.1 BC093802.1

BC112227.1 BT020021.1 CR536563.1 U28413.1

10 DOTS entries:

DT.40111452 DT.453944 DT.86846342 DT.40118717 DT.95345963 DT.40118449 DT.91702243 DT.91702250

DT.91702251 DT.91730051

24/85 AceView cDNA sequences (see all 85):

AA129369 AW418819 AL712255 CB242410 AA160339 CK904716 AW469891 BQ014661

AI373342 NM_024994 N79609 AK056931 CA314910 AU125283 CR536563 AK022657

BM835908 BM833676 AI570815 U28413 AA133889 BG387575 AI950957 BG616128

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ERCC8 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14
SP1:															-						-
SP2:							-								-						-
SP3:							-								-
SP4:

ECgene alternative splicing isoforms for ERCC8

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ERCC8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AAATGCTGTA

About this image

See ERCC8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ERCC8

SOURCE GeneReport for Unigene cluster: Hs.435237

SABiosciences Expression via Pathway-Focused PCR Arrays including ERCC8:

DNA Repair in human mouse rat

Ubiquitin Ligases in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERCC8 gene from 6/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ercc8^{1 , 5}	excision repaiross-complementing rodent repair deficiency, more^{1, 5}	85.77(n)¹ 89.9(a)¹		13 (59.69 cM)⁵ 71991¹ NM_028042.3¹ NP_082318.2¹ 108158731⁵
chicken (Gallus gallus)	Aves	ERCC8¹	excision repair cross-complementing rodent repair deficiency, more	81.1(n) 83.29(a)		427153 XM_424742.3 XP_424742.1
lizard (Anolis carolinensis)	Reptilia	-- --	Uncharacterized protein	79(a) 68(a)	many → 1 many → 1	2(8871115-8887625) AAWZ02038288(324-2531)
African clawed frog (Xenopus laevis)	Amphibia	Xl.5566²	Xenopus laevis transcribed sequence with moderate similarity more	79.07(n)		48031021
zebrafish (Danio rerio)	Actinopterygii	57051908²	--	75.79(n)		57051908
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	RAD28(YDR030C)⁴	Protein involved in DNA repair, related to the human more	--		4(503273-501753) 851594 NP_010313.1

ENSEMBL Gene Tree for ERCC8 (if available)
TreeFam Gene Tree for ERCC8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs281875225^1,2,4	C	Cockayne syndrome A (CSA)⁴ untested¹	60113384(-)	`TACAGA/GTAATC`	2	D G	mis¹		0	--	--	--	--
rs121434326^1,2,4	C	Cockayne syndrome A (CSA)⁴ pathogenic¹	60117508(-)	`CAACAC/GCAAGG`	2	P A	mis¹		0	--	--	--	--
rs121434325^1,2,4	C	Cockayne syndrome A (CSA)⁴ pathogenic¹	60119856(-)	`GGTAGC/TAGGTT`	2	A V	mis¹		0	--	--	--	--
rs143267182^1,2	C	--	57135107(+)	`GGCTA-/TCAG CTCAG`	1	--	int¹		0	--	--	--	--
rs75714481^1,2	C	--	57135112(+)	`AGCAGA/C/TGGAGG`	1	--	int¹		1		NA	2
rs77230476^1,2	C	--	57135114(-)	`GCCTCC/TGCTGC`	1	--	int¹		3		NA	6
rs75792078^1,2	F	--	57135224(-)	`AGTAGG/AGGCAG`	1	--	int¹		2		NA	4
rs10550173^1,2	C	--	57136927(+)	`GGAAa-/ACacaca`	1	--	int¹		0	--	--	--	--
rs71606647^1,2	C	--	57138432(+)	`TTCTC-/AAAAAA`	1	--	int¹		1		NA	2
rs72054215^1,2	C	--	57140023(+)	`TATGT-/TAATATA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ERCC8 (60169658 - 60240905 bp)

Structural Variations
Database of Genomic Variants (DGV) 9 variations for ERCC8: About this table

Variant ID	Type	Subtype	PubMed ID
esv2673115	CNV	Deletion	23128226
dgv6077n71	CNV	Loss	21882294
nsv520871	CNV	Loss	19592680
nsv881721	CNV	Loss	21882294
nsv881719	CNV	Loss	21882294
nsv462200	CNV	Loss	19166990
nsv881720	CNV	Loss	21882294
dgv6076n71	CNV	Loss	21882294
nsv462199	CNV	Gain	19166990

Human Gene Mutation Database (HGMD): ERCC8

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 609412
OMIM disorders: 216400
UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216

Cockayne syndrome A (CSA) [MIM:216400]: A rare disorder characterized by cutaneous sensitivity to

sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy

and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration

resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome

type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less

common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne

syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients

with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and

have no significant increase in skin cancer. Note=The disease is caused by mutations affecting the gene

represented in this entry

UV-sensitive syndrome 2 (UVSS2) [MIM:614621]: An autosomal recessive disorder characterized by cutaneous

photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. Note=The disease

is caused by mutations affecting the gene represented in this entry

19 diseases for ERCC8: About MalaCards

cockayne syndrome ercc8-related cockayne syndrome uv sensitive syndrome xeroderma pigmentosum, group c

xeroderma pigmentosum pigmentary retinopathy dwarfism skin cancer

microcephaly chronic myeloid leukemia meningioma multiple sclerosis

myeloid leukemia mental retardation hypoxia prostate cancer

leukemia prostatitis breast cancer

1 disease from the University of Copenhagen DISEASES database for ERCC8:

Cockayne syndrome

ERCC8 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

5 Novoseek inferred disease relationships for ERCC8 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
group a cockayne syndrome	98.4	8	19309286 (2), 17981804 (1), 11782547 (1), 15744458 (1) (see all 6)
cockayne syndrome	95.4	10	8811173 (1), 15211661 (1), 17055654 (1), 18668526 (1) (see all 10)
xeroderma pigmentosum	78	4	11782547 (1), 12665480 (1), 11104904 (1)
genetic disorder	47.6	2	8811173 (1), 19329487 (1)
neurodegenerative diseases	38.2	1	17055654 (1)

GeneTests: ERCC8
GeneReviews: ERCC8
Genetic Association Database (GAD): ERCC8
Human Genome Epidemiology (HuGE) Navigator: ERCC8 (7 documents)

Export disorders for ERCC8 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ERCC8 gene, integrated from 9 sources (see all 66):
(articles sorted by number of sources associating them with ERCC8)

Utopia: connect your pdf to the dynamic
world of online information

Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (PubMed id 15744458)^{1, 2, 9} Ridley A.J.... Jones C.J. (2005)
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. (PubMed id 7664335)^{1, 2, 9} Henning K.A.... Friedberg E.C. (1995)
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. (PubMed id 19894250)^{1, 2} Laugel V....Dollfus H. (2010)
Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)^{1, 4} Briggs F.B....Barcellos L.F. (2010)
High carriers frequency of an apparently ancient foun der mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome amon g Christian Arabs in Northern Israel. (PubMed id 21108394)^{1, 4} Khayat M....Shalev S.A. (2010)
XPC genetic polymorphisms correlate with the response to imatinib treatment in patients with chronic phase chronic myeloid leukemia. (PubMed id 20575039)^{1, 4} Guillem V.M....HernA!ndez-Boluda J.C. (2010)
Comprehensive screen of genetic variation in DNA repa ir pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)^{1, 4} Monsees G.M....Han J. (2010)
Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)^{1, 4} Michiels S....Benhamou S. (2009)
Association between common genetic variation in Cockayne syndrome A and B genes and nucleotide excision repair capacity among smokers. (PubMed id 18708399)^{1, 4} Leng S....Belinsky S.A. (2008)
CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome. (PubMed id 16751180)^{1, 2} Groisman R....Nakatani Y. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1161	HGNC: 3439	AceView: CKN1	Ensembl:ENSG00000049167	euGenes: HUgn1161
ECgene: ERCC8	Kegg: 1161	H-InvDB: ERCC8

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ERCC8	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ERCC8	Genetics and Cytogenetics in Oncology and Haematology
Allelic variations of the XP genes	http://www.xpmutations.org/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ERCC8
NIEHS-SNPs	http://egp.gs.washington.edu/data/ckn1/

Intellectual Property for ERCC8 gene
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Patent Information for ERCC8 gene:
Search GeneIP for patents involving ERCC8

GeneCards and IP:
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