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ERCC8 Gene

protein-coding   GIFtS: 64
GCID: GC05M060169

Excision Repair Cross-Complementation Group 8

(Previous names: Cockayne syndrome 1 (classical), excision repair cross-complementing...)
(Previous symbol: CKN1)
  See ERCC8-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Excision Repair Cross-Complementation Group 81 2     UVSS22 5
CKN11 2 3 5     Cockayne Syndrome 1 (Classical)1
CSA2 3 5     Cockayne Syndrome WD-Repeat Protein CSA2
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 81 2
     DNA Excision Repair Protein ERCC-82
Cockayne Syndrome WD Repeat Protein CSA2 3     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Several transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Mar 2014)

GeneCards Summary for ERCC8 Gene:
ERCC8 (excision repair cross-complementation group 8) is a protein-coding gene. Diseases associated with ERCC8 include cockayne syndrome, and uv-sensitive syndrome 2. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   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 plasmidERCC8 promoter sequence
   Search Chromatin IP Primers for ERCC8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ERCC8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000073.1  NP_001007234.1  NP_001007235.1  NP_001277214.1  

    ENSEMBL proteins: 
     ENSP00000370510   ENSP00000265038   ENSP00000408344   ENSP00000400110   ENSP00000441732  
    Reactome Protein details: Q13216

    ERCC8 Human Recombinant Protein Products:

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


    Find genes that share domains with ERCC8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003678NOT DNA helicase activity IDA8999876
    GO:0004842contributes to ubiquitin-protein ligase activity IDA12732143
    GO:0005515protein binding IPI10944529
    GO:0008094NOT DNA-dependent ATPase activity IDA8999876
    GO:0032403protein complex binding IDA16916636
         
    Find genes that share ontologies with ERCC8           About GenesLikeMe


    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/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  nervous system  tumorigenesis  vision/eye 

    Find genes that share phenotypes with ERCC8           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ercc8tm1Jhjh for ERCC8

       genOway: Develop your customized and physiologically relevant rodent model for ERCC8

    miRNA
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    miRTarBase miRNAs that target ERCC8:
    hsa-mir-521 (MIRT005022), hsa-mir-26b-5p (MIRT029207)

    Block miRNA regulation of human, mouse, rat ERCC8 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ERCC8:
    hsa-miR-561 hsa-miR-1183 hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidERCC8 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERCC8_HUMAN, Q13216: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000109nucleotide-excision repair complex IDA12732143
    GO:0005634nucleus IDA11782547
    GO:0005654nucleoplasm TAS--
    GO:0016363nuclear matrix IDA11782547
    GO:0031464Cul4A-RING ubiquitin ligase complex IDA12732143

    Find genes that share ontologies with ERCC8           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ERCC8 About    
    See pathways by source

    SuperPathContained pathways About
    1DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    Dual incision reaction in TC-NER0.65
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    Formation of transcription-coupled NER (TC-NER) repair complex0.65
    2Global Genomic NER (GG-NER)
    Nucleotide excision repair0.69
    3Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35


    Find genes that share SuperPaths with ERCC8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ERCC8
        DNA Repair Mechanisms
    Nucleotide Excision Repair Pathway

    2 Reactome Pathways for ERCC8
        Formation of transcription-coupled NER (TC-NER) repair complex
    Dual incision reaction in TC-NER


    2 Kegg Pathways  (Kegg details for ERCC8):
        Nucleotide excision repair
    Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC8: 

              DNA Repair in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ERCC8

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

    Selected Interacting proteins for ERCC8 (Q132161, 2, 3 ENSP000002650384) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8253264 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253264 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253264 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253264 I2D: score=2 
    ENSG00000228875P678702, 3MINT-8253264 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA12732143
    GO:0006281DNA repair TAS--
    GO:0006283transcription-coupled nucleotide-excision repair TAS--
    GO:0006289nucleotide-excision repair TAS--
    GO:0006974cellular response to DNA damage stimulus IDA11782547

    Find genes that share ontologies with ERCC8           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ERCC8 gene (4 alternative transcripts): 
    NM_000082.3  NM_001007233.2  NM_001007234.2  NM_001290285.1  

    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
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidERCC8 3' UTR sequence
    Inhib. RNA
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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 

    Selected AceView cDNA sequences (see all 85):

    CR536563 BM833676 CK904716 BM835908 AA160339 AW418819 AI570815 AK022657 
    AW469891 AI373342 N79609 BQ014661 CB242410 NM_024994 CA314910 AA129369 
    AU125283 AK056931 AL712255 BG387575 AL691658 AI078139 BQ645232 AA868882 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ERCC8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATGCTGTA
    ERCC8 Expression
    About this image

    ERCC8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERCC8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435237
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC8: 
              DNA Repair in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC8

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ERCC8 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ercc81 , 5 excision repaiross-complementing rodent repair deficiency, more1, 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_424742.4  XP_424742.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    79(a)
    67(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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G197501 AT1G19750 52.87(n)
    40.39(a)
      838564  NM_101831.3  NP_173405.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g08579001 Os01g0857900 54.93(n)
    44.8(a)
      4324761  NM_001051392.1  NP_001044857.2 


    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)
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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ERCC8 (see all 1501)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2818752251,2,,4
    CCockayne syndrome A (CSA)4 untested160113384(-) TACAGA/GTAATC 2 D G mis10--------
    rs1214343261,2,,4
    CCockayne syndrome A (CSA)4 pathogenic160117508(-) CAACAC/GCAAGG 2 P A mis10--------
    rs1214343251,2,,4
    CCockayne syndrome A (CSA)4 pathogenic160119856(-) GGTAGC/TAGGTT 2 A V mis10--------
    rs1432671821,2
    C--57135107(+) GGCTA-/TCAG  
            
    CTCAG
    1 -- int10--------
    rs757144811,2
    C--57135112(+) AGCAGA/C/TGGAGG 1 -- int11NA 2
    rs772304761,2
    C--57135114(-) GCCTCC/TGCTGC 1 -- int13Minor allele frequency- T:0.00NA 6
    rs757920781,2
    F--57135224(-) AGTAGG/AGGCAG 1 -- int12Minor allele frequency- A:0.50NA 4
    rs105501731,2
    C--57136927(+) GGAAa-/ACacaca 1 -- int10--------
    rs716066471,2
    C--57138432(+) TTCTC-/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs720542151,2
    C--57140023(+) TATGT-/TAATATA 1 -- int10--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ERCC8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673115CNV Deletion23128226
    dgv6077n71CNV Loss21882294
    nsv520871CNV Loss19592680
    nsv881721CNV Loss21882294
    nsv881719CNV Loss21882294
    nsv462200CNV Loss19166990
    nsv881720CNV Loss21882294
    dgv6076n71CNV Loss21882294
    nsv462199CNV Gain19166990

    Human Gene Mutation Database (HGMD): ERCC8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ERCC8
    DNA2.0 Custom Variant and Variant Library Synthesis for ERCC8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609412   
    OMIM disorders: 216400  614621  
    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

  • 8 diseases for ERCC8:    
    About MalaCards
    cockayne syndrome    uv-sensitive syndrome 2    cockayne syndrome type i    uv-sensitive syndrome 1
    ercc8-related cockayne syndrome    cockayne syndrome type ii    keratosis follicularis    xeroderma pigmentosum, group c

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

    Find genes that share disorders with ERCC8           About GenesLikeMe

    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)
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    PubMed articles for ERCC8 gene, integrated from 10 sources (see all 71):
    (articles sorted by number of sources associating them with ERCC8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (J. Hum. Genet. 2005)
    2. 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. (Cell 1995)
    3. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
    4. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. (PubMed id 19894250)1, 2 Laugel V.... Dollfus H. (Hum. Mutat. 2010)
    5. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    6. High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. (PubMed id 21108394)1, 4 Khayat M....Shalev S.A. (Am. J. Med. Genet. A 2010)
    7. 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. (Am. J. Hematol. 2010)
    8. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)
    9. 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. (amp 2008)
    10. 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. (Genes Dev. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 1161 HGNC: 3439 AceView: CKN1 Ensembl:ENSG00000049167 euGenes: HUgn1161
    ECgene: ERCC8 Kegg: 1161 H-InvDB: ERCC8

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    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 geneshttp://www.xpmutations.org/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ERCC8[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ckn1/

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ERCC8 gene:
    Search GeneIP for patents involving ERCC8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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