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ERCC5 Gene

protein-coding   GIFtS: 68
GCID: GC13P103497

Excision Repair Cross-Complementation Group 5

(Previous names: xeroderma pigmentosum, complementation group G, excision...)
(Previous symbols: ERCM2, XPGC)
  See 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 51 2     COFS32 5
ERCM21 2 3     Cockayne Syndrome1
XPGC1 2 3     UVDR2
XPG2 3 5     DNA Repair Protein Complementing XP-G Cells2
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 51 2
     XPG-Complementing Protein2
Xeroderma Pigmentosum, Complementation Group G1 2     EC 3.1.-.-3
DNA Excision Repair Protein ERCC-52 3     Xeroderma Pigmentosum Group G-Complementing Protein3

External Ids:    HGNC: 34371   Entrez Gene: 20732   Ensembl: ENSG000001348997   OMIM: 1335305   UniProtKB: P287153   

Export aliases for ERCC5 gene to outside databases

Previous GC identifers: GC13P101858 GC13P097885 GC13P102334 GC13P101196 GC13P102296 GC13P084090 GC13P103459


(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 ERCC5 Gene:
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair
following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase
II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum
complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder
characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following
UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects,
mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring
upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for ERCC5 Gene:
ERCC5 (excision repair cross-complementation group 5) is a protein-coding gene. Diseases associated with ERCC5 include ercc5-related xeroderma pigmentosum, and xanthogranulomatous pyelonephritis. GO annotations related to this gene include protein homodimerization activity and protein N-terminus binding. An important paralog of this gene is BIVM-ERCC5.

UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715
Function: Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the
3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes
oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in
transcription by RNA polymerase II, and perhaps in other processes too

Gene Wiki entry for ERCC5 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:
NC_000013.11  NC_018924.2  NT_009952.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERCC5 gene promoter:
         Nkx3-1   C/EBPbeta   Nkx3-1 v4   p53   Nkx3-1 v1   HNF-1A   AREB6   Nkx3-1 v2   HNF-1   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidERCC5 promoter sequence
   Search Chromatin IP Primers for ERCC5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERCC5


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

Entrez Gene cytogenetic band: 13q33   Ensembl cytogenetic band:  13q33.1   HGNC cytogenetic band: 13q22-q34

ERCC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERCC5 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P103497:  view genomic region     (about GC identifiers)

Start:
103,497,194 bp from pter      End:
103,528,351 bp from pter
Size:
31,158 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715 (See protein sequence)
Recommended Name: DNA repair protein complementing XP-G cells  
Size: 1186 amino acids; 133108 Da
Cofactor: Binds 2 magnesium ions per subunit. They probably participate in the reaction catalyzed by the enzyme.
May bind an additional third magnesium ion after substrate binding (By similarity)
Subunit: Interacts with PCNA
Secondary accessions: A6NGT4 Q5JUS4 Q5JUS5 Q7Z2V3 Q8IZL6 Q8N1B7 Q9HD59 Q9HD60
Alternative splicing: 3 isoforms:  P28715-1   P28715-2   P28715-3   (No experimental confirmation available. Includes a cryptic exon found in intron 6)

Explore the universe of human proteins at neXtProt for ERCC5: NX_P28715

Explore proteomics data for ERCC5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys172, Lys293, Lys298, Lys313, Lys433
  • Modification sites at PhosphoSitePlus

  • See ERCC5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000114.2  
    ENSEMBL proteins: 
     ENSP00000347978   ENSP00000436083   ENSP00000365121   ENSP00000442117  
    Reactome Protein details: P28715

    ERCC5 Human Recombinant Protein Products:

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    Novus Biologicals ERCC5 Lysates
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    Browse Proteins at Cloud-Clone Corp.

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    ERCC5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR006084 XPG/Rad2
     IPR006086 XPG-I_dom
     IPR006085 XPG_DNA_repair_N
     IPR001044 XPG/Rad2_eukaryotes
     IPR019974 XPG_CS

    Graphical View of Domain Structure for InterPro Entry P28715

    ProtoNet protein and cluster: P28715

    3 Blocks protein domains:
    IPB001044 Xeroderma pigmentosum group G protein signature
    IPB006084 Xeroderma pigmentosum group G/yeast RAD superfamily signature
    IPB008918 Helix-hairpin-helix motif


    UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715
    Similarity: Belongs to the XPG/RAD2 endonuclease family. XPG subfamily


    ERCC5 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERCC5_HUMAN, P28715
    Function: Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the
    3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes
    oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in
    transcription by RNA polymerase II, and perhaps in other processes too

         Genatlas biochemistry entry for ERCC5:
    excision repair cross-complementing rodent repair defect in CHO cells,complementation group 5,yeast RAD2 homolog
    (see XPG),deleted in metastatic prostate carcinomas

         Enzyme Number (IUBMB): EC 3.1.-.-1

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000405bubble DNA binding IDA16246722
    GO:0003677DNA binding ----
    GO:0003690double-stranded DNA binding IDA12644470
    GO:0003697single-stranded DNA binding IDA12644470
    GO:0003824catalytic activity ----
         
    ERCC5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ERCC5:
     Increased cell death HMECs cel 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ercc5):
     digestive/alimentary  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging 

    ERCC5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ERCC5: Ercc5tm3Shm Ercc5tm1Shm Ercc5tm2Shm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERCC5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ERCC5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERCC5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERCC5

    miRNA
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    miRTarBase miRNAs that target ERCC5:
    hsa-mir-124-3p (MIRT022203)

    Block miRNA regulation of human, mouse, rat ERCC5 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ERCC5:
    hsa-miR-590-3p hsa-miR-664
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ERCC5
    Predesigned siRNA for gene silencing in human, mouse, rat ERCC5

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ERCC5

    Clone
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    OriGene clones in human, mouse for ERCC5 (see all 7)
    OriGene ORF clones in mouse, rat for ERCC5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ERCC5 (NM_000123)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERCC5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC5

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ERCC5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC5


    (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
    ERCC5_HUMAN, P28715: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005675colocalizes with holo TFIIH complex IDA11259578
    GO:0005730NOT nucleolus IDA--
    GO:0016591colocalizes with DNA-directed RNA polymerase II, holoenzyme IDA16246722

    ERCC5 for ontologies           About GeneDecksing


    (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 ERCC5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Formation of incision complex in GG-NER0.62
    Nucleotide excision repair0.69
    Nucleotide Excision Repair Pathway0.48
    Dual incision reaction in GG-NER0.62
    2DNA 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
    3Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ERCC5
        DNA Repair Mechanisms
    Nucleotide Excision Repair Pathway

    4 Reactome Pathways for ERCC5
        Formation of transcription-coupled NER (TC-NER) repair complex
    Dual incision reaction in TC-NER
    Formation of incision complex in GG-NER
    Dual incision reaction in GG-NER


    1 Kegg Pathway  (Kegg details for ERCC5):
        Nucleotide excision repair


    ERCC5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC5: 
              Cancer PathwayFinder in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ERCC5

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

    Selected Interacting proteins for ERCC5 (P287152, 3 ENSP000003479784) via UniProtKB, MINT, STRING, and/or I2D (see all 213)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GTF2H4Q927593, ENSP000002598954I2D: score=2 STRING: ENSP00000259895
    ENSG00000221974Q927593I2D: score=2 
    ENSG00000226384Q927593I2D: score=2 
    ENSG00000233149Q927593I2D: score=2 
    ENSG00000234370Q927593I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0000737DNA catabolic process, endonucleolytic IDA12644470
    GO:0006281DNA repair TAS--
    GO:0006283transcription-coupled nucleotide-excision repair TAS--
    GO:0006289nucleotide-excision repair TAS--

    ERCC5 for ontologies           About GeneDecksing



    (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 ERCC5

    8 Novoseek inferred chemical compound relationships for ERCC5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thymine glycol 77.2 11 10766805 (2), 9927729 (2), 11554293 (1)
    irofulven 67.3 3 15328203 (3)
    ecteinascidin 743 57.1 4 11479630 (2), 15328203 (1)
    cisplatin 29.7 2 15328203 (1), 16849332 (1)
    phosphodiester 25.2 2 9188507 (1)
    oligonucleotide 0 1 8090225 (1)
    atp 0 3 9618470 (1), 11141066 (1), 16246722 (1)
    histidine 0 2 10517877 (1), 11228268 (1)



    ERCC5 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ERCC5 gene: 
    NM_000123.3  

    Unigene Cluster for ERCC5:

    Excision repair cross-complementing rodent repair deficiency, complementation group 5
    Hs.258429  [show with all ESTs]
    Unigene Representative Sequence: NM_001204425
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355739(uc001vpu.2 uc010tjb.2 uc001vpw.3 uc010tjc.1 uc010tjd.1)
    ENST00000472151 ENST00000375958 ENST00000375954 ENST00000481099 ENST00000472247
    ENST00000535557
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate ERCC5:
    hsa-miR-590-3p hsa-miR-664
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ERCC5 (NM_000123)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ERCC5
      QuantiFast Probe-based Assays in human, mouse, rat ERCC5

    Additional mRNA sequence: 

    AF462447.1 AK294708.1 AK299758.1 BC031522.2 BX647399.1 D16305.1 L20046.1 X69978.1 

    11 DOTS entries:

    DT.117699  DT.100684017  DT.40284853  DT.92431332  DT.117701  DT.86843311  DT.120788615  DT.95335234 
    DT.95374634  DT.100711460  DT.91698693 

    9 AceView cDNA sequences:

    BQ067419 AW404132 AA708780 BQ707436 AA708523 AW574626 BF908784 AA161242 
    AA521132 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ERCC5 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                          -     -                       -                       -                             -                                       
    SP2:                    -           -                                                                                                                     
    SP3:                                                        -                                                                                             
    SP4:                                                                                                                                                      
    SP5:                          -     -                                                                                                                     


    ECgene alternative splicing isoforms for ERCC5

    (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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    ERCC5 expression in normal human tissues (normalized intensities)      ERCC5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGTGGATTT
    ERCC5 Expression
    About this image


    ERCC5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Brain (Nervous System)
             Cerebral Cortex
    ERCC5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERCC5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.258429
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC5: 
              Cancer PathwayFinder in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ERCC5
    OriGene qSTAR qPCR primer pairs in human, mouse for ERCC5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERCC5
    QuantiTect SYBR Green Assays in human, mouse, rat ERCC5
    QuantiFast Probe-based Assays in human, mouse, rat ERCC5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC5

    (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 animals and fungi.

    Orthologs for ERCC5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ercc51 , 5 excision repair cross-complementing rodent repair deficiency, more1, 5 75.71(n)1
    70.06(a)1
      1 (23.55 cM)5
    225921  NM_011729.21  NP_035859.21 
     441478475 
    chicken
    (Gallus gallus)
    Aves ERCC51 excision repair cross-complementing rodent repair deficiency, more 64.14(n)
    60.62(a)
      428019  NM_001034823.1  NP_001029995.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    56(a)
    1 → many
    3(101065875-101099416)
    African clawed frog
    (Xenopus laevis)
    Amphibia XPGC2 XP-G related factor 75.14(n)    X69977.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ercc56
    excision repair cross-complementing rodent repair ...
    47(a)
    1 → many
    1(348782-368977) ENSDARG00000023678
    fruit fly
    (Drosophila melanogaster)
    Insecta mus2013 base-excision repair single-stranded
    DNA specific more
    41(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea gen-16
    xpg-16
    Protein XPG-1 (xpg-1) mRNA, complete cds
    27(a)
    24(a)
    many ↔ many
    many ↔ many
    III(6245924-6248234) WBGene00020442
    I(6558700-6562392) WBGene00019004
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD26
    Single-stranded DNA endonuclease, cleaves single-s...
    23(a)
    1 → many
    VII(1007671-1010766) YGR258C


    ENSEMBL Gene Tree for ERCC5 (if available)
    TreeFam Gene Tree for ERCC5 (if available)

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

    TryGeneCards Plus
    Paralogs for ERCC5 gene
    BIVM-ERCC52  
    1 SIMAP similar gene for ERCC5 using alignment to 3 protein entries:     ERCC5_HUMAN (see all proteins):
    BIVM-ERCC5

    ERCC5 for paralogs           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ERCC5 (see all 925)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0170974
    Xeroderma pigmentosum complementation group G (XP-G)4--see VAR_0170972 L P mis40--------
    VAR_0077334
    Xeroderma pigmentosum complementation group G (XP-G)4--see VAR_0077332 A V mis40--------
    VAR_0152804
    Xeroderma pigmentosum complementation group G (XP-G)4--see VAR_0152802 P H mis40--------
    rs289294961,2,4
    Xeroderma pigmentosum complementation group G (XP-G)4--see VAR_0170962 mis40--------
    rs1214345721,2
    Cpathogenic184441661(+) ACATCC/TGAAGG 2 R * stg10--------
    rs1214345761,2
    Cpathogenic184448237(+) TAACCA/GCCATG 2 T A mis10--------
    rs359001941,2
    C--84102210(+) GTGAA-/TT    
       
    /TTTC
    TTTCT
    1 -- int10--------
    rs350552501,2
    C--84102213(+) AATTT-/A/AC  
     TT
    /CTTA
    CTTTT
    1 -- int11CSA 2
    rs678100821,2
    C--84102215(+) ATTTC-/CTTA  
            
    TTTTA
    1 -- int10--------
    rs2008653721,2
    --84102215(+) TTTCT-/TACTTTAA 1 -- cds10--------
    rs106235101,2
    C--84102216(+) TTCTT-/ACTT  
            
    TTAAT
    1 -- int10--------
    rs1418649631,2
    C--84108710(+) TCAAC-/CACACA
            
    CACAC
    1 -- int10--------
    rs349785461,2
    C--84108711(+) CAACC-/CA    
       
    /CACA
    ACACA
    1 -- int10--------
    rs106310071,2
    C--84114042(+) ACTTCTCTTC/
            
    ACACA
    1 -- int11Minor allele frequency- -:0.00NA 2
    rs1153494361,2
    F--84423973(+) TTACAT/CATGGA 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1143837661,2
    C,F--84424061(+) GTGAAC/TCATCT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs801513441,2
    C,F--84424116(+) GAGCAC/TGGTGG 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1906178071,2
    --84424117(+) AGCACA/GGTGGC 1 -- us2k10--------
    rs37594971,2
    C,F--84424261(+) TACTCG/AGGAGG 1 -- us2k18Minor allele frequency- A:0.25NA WA EA 252
    rs1832305991,2
    --84424292(+) GAGCCA/TGAGAG 1 -- us2k10--------
    rs21469881,2
    C,A--84424340(+) TCTAGC/TCTGGG 1 -- us2k15Minor allele frequency- T:0.25NA WA EA 362
    rs1392893931,2
    --84424357(+) AGTGAG/TACCCT 1 -- us2k10--------
    rs20942581,2
    C,F,O,A,H--84424443(-) AGCAGG/ACAATT 1 -- us2k123Minor allele frequency- A:0.24NA NS EA WA 2480
    rs1500156421,2
    --84424598(+) TATGCC/TCTGAT 1 -- us2k10--------
    rs1477006271,2
    --84424642(+) ACTTCA/GGGGAT 1 -- us2k10--------
    rs1879174831,2
    --84424916(+) AGCCCC/TAGGAA 1 -- us2k10--------
    rs20160731,2
    C,F,A,H--84425095(+) AGGCTA/GCATAC 1 -- us2k1 ese329Minor allele frequency- G:0.31NS EA NA WA CSA 2769
    rs1932633961,2
    --84425143(+) ATATGC/TATCTA 1 -- us2k10--------
    rs1446587561,2
    C--84425220(+) TGACTC/TTTCCC 1 -- us2k10--------
    rs1476403611,2
    --84425336(+) GGCATA/CCACCT 1 -- us2k10--------
    rs1422752971,2
    --84425367(+) TAAAAC/TAACAC 1 -- us2k10--------
    rs1146398901,2
    F--84425406(+) GCGCAA/GAGGTA 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs9432451,2
    C,F,H--84425445(-) TGGGAG/ACTATT 1 -- us2k1 ese326Minor allele frequency- A:0.04NS MN EA NA WA CSA 2257
    rs13236971,2
    C,F,A--84425533(+) TACTTG/CAGAGG 1 -- us2k1 ese313Minor allele frequency- C:0.34EA NA NS MN WA CSA 818
    rs41502461,2
    C,F--84425582(+) TTCCAG/AGCTGC 1 -- us2k1 ese34Minor allele frequency- A:0.03NS NA WA EA 362
    rs1157329651,2
    C,F--84425583(+) TCCAGG/ACTGCA 1 -- us2k11Minor allele frequency- A:0.07WA 118
    rs1824565381,2
    --84425588(+) GCTGCA/GGTGAG 1 -- us2k10--------
    rs41502471,2
    C,F,A--84425601(+) AAGAAT/CGCGCC 1 -- us2k1 ese32Minor allele frequency- C:0.10NS NA 236
    rs1879272471,2
    C--84425635(+) GCGTGA/GGACCC 1 -- us2k10--------
    rs1926499041,2
    C--84425717(+) GCCTTC/GAGGAT 1 -- us2k10--------
    rs1431087491,2
    --84425735(+) TGACGA/GAAGCA 1 -- us2k10--------
    rs561112501,2
    C,F--84425755(+) CAAGGA/C/TATCAC 1 -- us2k12WA EA 238
    rs169606191,2
    C,F--84425855(+) TATTAG/CACGGA 1 -- us2k1 ese34Minor allele frequency- C:0.02NA WA 260
    rs741096901,2
    C,F--84425861(+) ACGGAA/CACCGA 1 -- us2k12Minor allele frequency- C:0.12WA 120
    rs41502481,2
    C,F,H--84425864(+) GAAACC/AGAGCG 1 -- us2k17Minor allele frequency- A:0.03NS EA CSA WA 471
    rs7514021,2
    C,F,O,A,H--84425882(-) ACCCAC/TGAAAA 1 -- ut51 ese333Minor allele frequency- T:0.29EA NA MN NS WA CSA 3202
    rs22961471,2
    C,F,O,A,H--84426059(+) GGACCT/CGTCTT 1 -- ut5134Minor allele frequency- C:0.22EA NA NS MN CSA WA 5104
    rs767523001,2
    C,F--84426101(+) GTGTTG/CCAGCC 1 -- ut511Minor allele frequency- C:0.02NA 120
    rs1511992061,2
    --84426121(+) CCGCTG/TTAATG 1 -- ut510--------
    rs32187361,2
    C,F,H--84426227(+) TCCTAG/AGCGGC 1 -- ut51 ese39Minor allele frequency- A:0.02NA NS EA 882
    rs22961481,2
    C,F,O,H--84426229(+) CTAGGC/TGGCGG 1 -- ut51 ese312Minor allele frequency- T:0.06EA NA NS CSA WA 2500
    rs1842742631,2
    --84426238(+) GGTGCA/TGTCCG 1 -- ut510--------
    rs2012401431,2
    --84426354(+) GTCAGC/TCCCGA 2 S syn10--------
    rs342913971,2
    C,F--84426356(+) CAGCCC/TCGAAG 2 P L mis13Minor allele frequency- T:0.00NA EU 5369
    rs2004640301,2
    --84426363(+) GAAGCA/GCTGGA 2 A syn10--------
    rs1890514671,2
    --84426561(+) GTATCC/TCCGGG 1 -- int10--------
    rs41502511,2
    C,F,H--84426590(+) CCTCCG/ATATAC 1 -- int113Minor allele frequency- A:0.01NS EA CSA WA 1379
    rs1923113831,2
    --84426664(+) ACTTCC/TGTAAT 1 -- int10--------
    rs1503200321,2
    --84426709(+) AATGCA/GATGTA 1 -- int10--------
    rs1845594571,2
    C--84426731(+) AATAGC/TTGTTA 1 -- int10--------
    rs1901910561,2
    C--84426751(+) TTAAAA/TTTTTT 1 -- int10--------
    rs1428677551,2
    C--84426777(+) TATGT-/TTTA  
            
    TTTAT
    1 -- int10--------
    rs41502521,2
    F--84426791(+) TATTTATTT/-  
            
    TTTTC
    1 -- int11Minor allele frequency- -:0.03NS 178
    rs1824840281,2
    --84426804(+) TCGCAA/TATATT 1 -- int10--------
    rs1159203421,2
    C,F--84427019(+) AGAAAT/CTGCCT 1 -- int11Minor allele frequency- C:0.01WA 118
    rs73269221,2
    C,F,H--84427042(+) TTTAGC/TGCGAT 1 -- int116Minor allele frequency- T:0.01NS EA NA WA CSA 794
    rs73254961,2
    C,F,A--84427101(+) GAGAGA/CAGAGT 1 -- int112Minor allele frequency- C:0.31NA WA CSA EA 375
    rs1858295291,2
    --84427110(+) GTAGAC/TTTCGA 1 -- int10--------
    rs73257081,2
    C,F,A,H--84427175(+) GTGGAC/GAGGTG 1 -- int115Minor allele frequency- G:0.34NS EA NA WA CSA 926
    rs1379629431,2
    --84427199(+) TTAAAC/TTGACT 1 -- int10--------
    rs1896001551,2
    --84427222(+) TTGTTC/TCTGTA 1 -- int10--------
    rs1811236521,2
    --84427299(+) CTTTTA/GAAATT 1 -- int10--------
    rs116187231,2
    C,F,A,H--84427324(+) TGTTAT/CGTAGT 1 -- int112Minor allele frequency- C:0.36NS EA NA CSA WA 730
    rs352235211,2
    C,F--84427332(+) TTTTTT/-TTTTG 1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs116197491,2
    C,F,A,H--84427384(+) ACCTTA/GCACCA 1 -- int116Minor allele frequency- G:0.34NS EA NA WA CSA 794
    rs169606321,2
    C,F,H--84427399(+) CCTAAA/GTGGGG 1 -- int19Minor allele frequency- G:0.09NA NS EA 752
    rs73278321,2
    C,F--84427584(+) AAGTTT/CTAAAA 1 -- int14Minor allele frequency- C:0.40WA CSA 124
    rs1856606731,2
    --84427605(+) TTATCA/GTTTTT 1 -- int10--------
    rs1904683411,2
    --84427632(+) TTAAAC/TAAATC 1 -- int10--------
    rs1827448961,2
    --84427706(+) ATTTTC/TGTTTT 1 -- int10--------
    rs1423519371,2
    --84427740(+) TAGAGA/CACATG 1 -- int10--------
    rs73269431,2
    C,F,A,H--84427771(+) TGTTGG/CTTAGT 1 -- int116Minor allele frequency- C:0.48NA WA CSA EA 515
    rs1165348281,2
    C,F--84427865(+) ATTTAG/AATCAT 1 -- int11Minor allele frequency- A:0.03WA 118
    rs785556581,2
    C,F--84427920(+) CCAGGC/ATCAGT 1 -- int11Minor allele frequency- A:0.07NA 120
    rs1869843991,2
    --84428054(+) TGGACA/GTGGTG 1 -- int10--------
    rs95188541,2
    C,F,H--84428068(+) TGCACC/GTTTGG 1 -- int114Minor allele frequency- G:0.34NS EA NA WA CSA 782
    rs1177880601,2
    F--84428073(+) CTTTGG/TTCCCA 1 -- int11Minor allele frequency- T:0.03EA 120
    rs1173072451,2
    F--84428140(+) ATGAGC/TCGTGT 1 -- int11Minor allele frequency- T:0.01NA 120
    rs64917141,2
    C,F,A,H--84428142(+) GAGCCG/ATGTTC 1 -- int110Minor allele frequency- A:0.19NS EA NA WA CSA 546
    rs2004620851,2
    C--84428205(+) GTCATA/GACAAC 1 -- int10--------
    rs41502531,2
    C,F,A,H--84428487(+) CAGAAT/GTAAGT 1 -- int117Minor allele frequency- G:0.49NS NA WA CSA EA 691
    rs7685021,2
    H--84428512(+) TTATAG/TATTTT 1 -- int14Minor allele frequency- T:0.00NS EA 412
    rs19988761,2
    C,F,A,H--84428730(-) TATACG/ACAAAA 1 -- int112Minor allele frequency- A:0.24NS EA NA WA 916
    rs128553891,2
    H--84428743(+) AACTTA/CCTGAA 1 -- int14Minor allele frequency- C:0.00NS EA 416
    rs1137915771,2
    F--84428837(+) AGGTCG/ATCTAA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs41502541,2
    C,F,H--84428892(+) CCTAGC/GTGAGA 1 -- int17Minor allele frequency- G:0.05NS EA WA 710
    rs19988751,2
    C,F,O,A--84428905(-) AGGTAG/ATGCCA 1 -- int117Minor allele frequency- A:0.49NA NS WA CSA EA 691
    rs19988741,2
    C,F,A,H--84428943(-) GTAGGA/TCTTCT 1 -- int117Minor allele frequency- T:0.48NS EA NA WA CSA 961
    rs1841846711,2
    --84428990(+) GTTTAA/GTAATC 1 -- int10--------
    rs1174271421,2
    F--84429056(+) CTGATC/ATGAAA 1 -- int11Minor allele frequency- A:0.01EA 120
    rs412816721,2
    C,F--84429125(+) ATCCTA/GTGTAA 1 -- int11Minor allele frequency- G:0.01NA 120
    rs1169209501,2
    F--84429234(+) GATGTA/GTCTTT 1 -- int11Minor allele frequency- G:0.02EA 120
    rs1446078211,2
    C--84429336(+) TTCTTA/CACATG 1 -- int10--------
    rs1875262411,2
    --84429360(+) TCCTTA/TAATCA 1 -- int10--------
    rs1928071021,2
    C--84429390(+) TGGCCA/GTATCA 1 -- int10--------
    rs1826345751,2
    C--84429510(+) GCCTGA/GCCCAT 1 -- int10--------
    rs113029621,2
    F--84429616(+) CCTACA/TTTTTT 1 -- int13Minor allele frequency- T:0.12NA 140
    rs759825041,2
    C--84429616(+) CCTAC-/ATTTTT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1389943931,2
    C--84429628(+) TTTATA/GTTAGT 1 -- int10--------
    rs47714361,2
    C,F,A,H--84429707(+) GTGTAT/GAAGAG 1 -- int1105Minor allele frequency- G:0.33NS EA NA PA EU CA WA 6542
    rs1494352021,2
    C--84429730(+) GGAGTC/GCAGTG 1 -- int10--------
    rs1870070661,2
    --84429771(+) ACAGGC/GTGGGT 1 -- int10--------
    rs73289511,2
    C,F,H--84429891(+) AACGTG/TATAGG 1 -- int18Minor allele frequency- T:0.20NS EA WA CSA 542
    rs95859991,2
    C--84429893(+) CGTGAC/TAGGTG 1 -- int10--------
    rs1447720871,2
    --84429912(+) AATGTG/TCTTTT 1 -- int10--------
    rs1133950351,2
    C--84429921(+) TTCCTG/ATGTTA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs676508331,2
    C--84429971(+) CTCTGT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs114507901,2
    C--84429980(+) TTTTT-/T/TC  
            
    CTTTT
    1 -- int1 trp31NA 2
    rs1997212461,2
    C--84429980(+) TTTTTC/TCTTTT 1 -- int10--------
    rs671172571,2
    C--84429981(+) TTTTC-/T/TC  
            
    TTTTT
    1 -- int10--------
    rs73336841,2
    C,F,H--84430019(+) tgttaC/Ggcagg 1 -- int116Minor allele frequency- G:0.17NS EA NA WA CSA 1642
    rs1151058111,2
    F--84430027(+) AGGCTC/AGAGTG 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1844145471,2
    --84430037(+) GCAGTA/GGCGTG 1 -- int10--------
    rs1903108311,2
    --84430112(+) CACACA/GCCACC 1 -- int10--------
    rs21043011,2
    C,F--84430240(+) TTACAA/TGTGTG 1 -- int13Minor allele frequency- T:0.39WA 122
    rs18871191,2
    C,F,A,H--84430301(-) AAGACC/ATCCTC 1 -- int114Minor allele frequency- A:0.00NS EA NA WA CSA 552
    rs128705411,2
    C,F--84430326(+) aggggA/Gcccct 1 -- int1 trp34Minor allele frequency- G:0.13NA 126
    rs746483341,2
    C--84430364(+) CTAGGC/TGGAGA 1 -- int10--------
    rs1408655041,2
    C--84430486(+) GAGGCC/TAGATC 1 -- int10--------
    rs1445709661,2
    --84430506(+) TTCCTA/GGACCA 1 -- int10--------
    rs20937541,2
    C,F,H--84430530(+) TAGATA/TGTATC 1 -- int113Minor allele frequency- T:0.15NS EA NA WA CSA 1364
    rs1474591531,2
    --84430636(+) AGACCC/TGGTAA 1 -- int10--------
    rs1930769111,2
    C--84430693(+) GGGACA/GTTCAC 1 -- int10--------
    rs1858050621,2
    --84430701(+) CACTGA/TGATGG 1 -- int10--------
    rs95549011,2
    C,F,A,H--84430709(+) tggggA/Gcatga 1 -- int112Minor allele frequency- G:0.48NS EA NA CSA WA 784
    rs1145439011,2
    F--84430792(+) AGAGAC/TGTCAT 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1891693411,2
    --84430803(+) CTGGGC/TTCTCT 1 -- int10--------
    rs110694981,2
    C,F,H--84431009(+) GCGGTG/ATCACT 1 -- int130Minor allele frequency- A:0.32NS EA NA WA CSA 2798
    rs41502551,2
    C,F,H--84431127(+) ACATAA/CTATCT 1 -- int15Minor allele frequency- C:0.01NS EA 592
    rs1810044011,2
    --84431330(+) TCTGCC/TATAAT 1 -- int10--------
    rs1836489361,2
    C--84431356(+) GAGACA/GGAGTC 1 -- int10--------
    rs1883649291,2
    --84431395(+) GGCGCA/GATCTC 1 -- int10--------
    rs41502581,2
    C,F,A,H--84431478(+) aggtgT/Cgcacc 1 -- int16Minor allele frequency- C:0.47NS NA WA 180
    rs41502591,2
    C,F--84431551(+) GGTCTC/TGATCT 1 -- int11Minor allele frequency- T:0.02NS 170
    rs1812469471,2
    --84431717(+) AAATAA/GCTCTC 1 -- int10--------
    rs41502601,2
    C,F,A,H--84431749(+) TCTGAG/AGATCA 1 -- int119Minor allele frequency- A:0.36NS EA NA WA CSA 1073
    rs1866863901,2
    --84431936(+) TTTGTA/GTGATT 1 -- int10--------
    rs782009731,2
    --84431938(+) TGTATG/TATTTT 1 -- int10--------
    rs41502611,2
    C,F,H--84431958(+) TATGTG/AAATAG 1 -- int15Minor allele frequency- A:0.01NS EA 548
    rs1464407981,2
    --84431990(+) AAGTTA/CACTGA 1 -- int10--------
    rs1919868851,2
    --84431997(+) CTGACC/TTTAGG 1 -- int10--------
    rs41502621,2
    C,F,H--84432001(+) CTTTAG/TGTAGA 1 -- int16Minor allele frequency- T:0.05NS EA WA 668
    rs415489121,2
    C,F--84432019(+) AGAGCT/CAAATG 1 -- int11Minor allele frequency- C:0.02NA 120
    rs41502631,2
    C,F,H--84432032(+) TTTCAA/GTTTTA 1 -- int126Minor allele frequency- G:0.16NS NA EA WA CSA 2564
    rs41502641,2
    C,F,H--84432069(+) TCAACG/CTTTGG 1 -- int15Minor allele frequency- C:0.00NS EA 556
    rs1876318411,2
    C--84432122(+) GAAAAA/GTCCCG 1 -- int10--------
    rs1996191631,2
    C--84432126(+) AATCCC/TGGAGT 1 -- int10--------
    rs1409175451,2
    C,F--84432201(+) GGATCG/ACCATG 2 /H /R mis11Minor allele frequency- A:0.00NA 4550
    rs10477681,2
    C,F,A,H--84432205(+) CGCCAC/TGGGAA 2 H syn148Minor allele frequency- T:0.44NA MN NS EA WA CSA EU 10086
    rs20209151,2
    C,F,H--84432338(+) TAAGTG/ATCGTA 1 -- int112Minor allele frequency- A:0.04NA NS EA WA CSA EU 2117
    rs2017358431,2
    C--84432365(+) TCAAAG/TAATTT 1 -- int10--------
    rs1400416821,2
    C--84432449(+) TTTTG-/ACACATA 1 -- int10--------
    rs1445781191,2
    --84432469(+) CATCTA/GCTTTT 1 -- int10--------
    rs1910645421,2
    --84432848(+) TGCTGC/TTTTAT 1 -- int10--------
    rs1820924561,2
    --84432892(+) AAGGCC/TGGGGG 1 -- int10--------
    rs1385381001,2
    --84432998(+) GACAGC/GACCCA 1 -- int10--------
    rs1401234541,2
    C--84433099(+) AGGATA/GAAAGT 1 -- int10--------
    rs1504784571,2
    --84433278(+) TTATCA/CGATAT 1 -- int10--------
    rs41502671,2
    C,F,H--84433359(+) TTAGAA/GTTTCT 1 -- int17Minor allele frequency- G:0.05NS EA WA 684
    rs745404021,2
    C,F--84433427(+) ATAAAA/GAGCAA 1 -- int11Minor allele frequency- G:0.01NA 120
    rs1449690301,2
    C--84433611(+) GGAAA-/CTCTGGG 1 -- int10--------
    rs1868690801,2
    --84433647(+) AAGATA/GTACAC 1 -- int10--------
    rs558690421,2
    C--84433980(+) CCTGCA/GATTCT 1 -- int10--------
    rs41502681,2
    C--84434025(+) TAGAGAG/-TGAAA 1 -- int11Minor allele frequency- -:0.01NS 176
    rs560103131,2
    C--84434070(+) TTGGAA/GTTGTG 1 -- int10--------
    rs1834189201,2
    --84434086(+) TCTCCA/GTTCTG 1 -- int10--------
    rs41502691,2
    H--84434090(+) CGTTCT/CGTGAG 1 -- int15Minor allele frequency- C:0.00NS EA 592
    rs1882972781,2
    --84434115(+) ATGAGA/GAAAAA 1 -- int10--------
    rs41502701,2
    C,F,H--84434126(+) AAGCTG/ATCGTG 1 -- int119Minor allele frequency- A:0.02NS EA NA WA 1482
    rs1932031751,2
    --84434192(+) GCCCCA/GCCAAG 1 -- int10--------
    rs15357291,2
    C,F,A,H--84434196(+) CGCCAC/AGGTTC 1 -- int121Minor allele frequency- A:0.01EA NA NS WA CSA 907
    rs1855222951,2
    C--84434302(+) TCTGTC/TTAAAG 1 -- int10--------
    rs1888980601,2
    C--84434356(+) AAGTTC/TGAAGA 2 R * stg10--------
    rs41403901,2
    C,F,H--84434373(+) GACCTC/GTATGT 2 L syn1 ese330Minor allele frequency- G:0.03NS MN NA EA WA EU 7845
    rs49870631,2,,4
    C,F--84434377(+) TCTATG/ATTTTG 2 /I /V mis113Minor allele frequency- A:0.01MN NA NS EA WA 5494
    rs1472999301,2
    --84434482(+) GATGTA/GTTATC 1 -- int10--------
    rs1925086511,2
    --84434603(+) TGGTGA/TTTCAT 1 -- int10--------
    rs41502721,2
    H--84434700(+) ACTTTG/ACTTAC 1 -- int15Minor allele frequency- A:0.00NS EA 588
    rs41502731,2
    C,F,H--84434736(+) ATCCAA/GTATGG 1 -- int119Minor allele frequency- G:0.01NS EA NA WA CSA 967
    rs41502741,2
    C,F,A,H--84434798(+) AAATCC/TAGCAG 1 -- int121Minor allele frequency- T:0.49NS EA NA WA CSA 2516
    rs41502751,2
    C,F,H--84434815(+) TGCACG/ATCTTA 1 -- int18Minor allele frequency- A:0.04NS EA NA WA 822
    rs1835270751,2
    --84434861(+) CACTGC/TCCCGC 1 -- int10--------
    rs41502761,2
    C,F,A,H--84434916(+) ACTCCT/ACTTCC 1 -- int1 trp323Minor allele frequency- A:0.47NS EA NA WA CSA 1388
    rs1882855051,2
    --84434943(+) TGGTTG/TGTGGT 1 -- int10--------
    rs1811097691,2
    --84435007(+) CCCCTC/GTCCTT 1 -- int10--------
    rs1390960141,2
    --84435181(+) AATAGC/TTCCTC 1 -- int10--------
    rs1850662111,2
    --84435277(+) AGCTTC/TTCCTT 1 -- int10--------
    rs1899447011,2
    --84435308(+) TTTTTG/TGAGAT 1 -- int10--------
    rs1431236951,2
    --84435319(+) GGAGTC/TTCTGT 1 -- int10--------
    rs773747751,2
    C--84435335(+) AGACTA/GGAGTG 1 -- int10--------
    rs41502771,2
    C,F--84435409(+) AGCCTC/ACGGAG 1 -- int12Minor allele frequency- A:0.02NS NA 172
    rs41502781,2
    C,F--84435440(+) TGCCAC/TCACAC 1 -- int15Minor allele frequency- T:0.08NS NA WA CSA 178
    rs1428381921,2
    --84435476(+) AGAGAC/TGAGGT 1 -- int10--------
    rs1507978161,2
    --84435590(+) GCTTAG/TCTTCT 1 -- int10--------
    rs41502791,2
    C,F,A,H--84435705(+) ATGGTC/TATACA 1 -- int135Minor allele frequency- T:0.48NS EA NA WA CSA 2762
    rs1816264921,2
    C--84435729(+) GCCTGC/GAACAC 1 -- int10--------
    rs1867628161,2
    --84435748(+) ATGAAC/TCTTCC 1 -- int10--------
    rs41502801,2
    C,F,H--84435755(+) TTCCCG/ACTCCC 1 -- int16Minor allele frequency- A:0.05NS EA WA 706
    rs1149079411,2
    F--84435767(+) ACAACT/GACACT 1 -- int11Minor allele frequency- G:0.01WA 118
    rs41502811,2
    C,F,H--84435782(+) AATTCG/ATGGCT 1 -- int115Minor allele frequency- A:0.15NS NA EA WA CSA 864
    rs2006450981,2
    --84436056(+) AAAATC/GATAGA 1 -- int10--------
    rs1909102241,2
    C--84436064(+) AGATAC/TCGTAA 1 -- int10--------
    rs3715664201,2
    C--84436066(+) ATATCC/GTAAAA 1 -- int10--------
    rs597310861,2
    C--84436121(+) GCAAGA/GAAGAA 2 E G mis10--------
    rs1428845921,2
    C--84436131(+) ATGAAT/CCAAAA 2 /N syn11Minor allele frequency- C:0.00NA 4524
    rs58063271,2
    C--84436334(+) ACGTG-/TATATAT 1 -- int10--------
    rs360880071,2
    C--84436335(+) TATAT-/AT/TA 
            
    GGAAT
    1 -- int13NA CSA 6
    rs1392027731,2
    --84436360(+) TTGCCA/GTTATG 1 -- int10--------
    rs1852634891,2
    --84436388(+) AACAAA/GCTATT 1 -- int10--------
    rs1440774811,2
    --84436436(+) TTACAC/TAGAAA 1 -- int10--------
    rs1899724681,2
    --84436551(+) TATATA/GTGTAT 1 -- int10--------
    rs41502821,2
    C,F,A,H--84436617(+) TCTGTC/TGCTGT 1 -- int124Minor allele frequency- T:0.34NS EA NA WA CSA 2520
    rs1829976351,2
    --84436618(+) CTGTCA/GCTGTG 1 -- int10--------
    rs1884374151,2
    --84436623(+) GCTGTA/GTAACT 1 -- int10--------
    rs41502831,2
    H--84436654(+) GTTATC/TGTCAT 1 -- int15Minor allele frequency- T:0.00NS EA 590
    rs41502841,2
    C,F,H--84436719(+) CTTGTG/ATAGAT 1 -- int15Minor allele frequency- A:0.01NS EA 594
    rs41502851,2
    C,F,H--84436764(+) CGAGGC/TTTCCT 1 -- int116Minor allele frequency- T:0.01NS EA NA WA CSA 968
    rs41502871,2
    C,F--84436819(+) CATGCG/AGCCAG 1 -- int12Minor allele frequency- A:0.03NS NA 298
    rs41502881,2
    C,F--84436854(+) CTCCAC/TGTGGC 1 -- int12Minor allele frequency- T:0.06NS WA 298
    rs41502901,2
    C,F,A,H--84436866(+) TGGGCA/TTTTTC 1 -- int116Minor allele frequency- T:0.48NS EA NA WA CSA 969
    rs1912226671,2
    --84437259(+) GAGGTA/GCTGTG 1 -- int10--------
    rs1834765801,2
    --84437302(+) TAAGAC/TCATGG 1 -- int10--------
    rs1408764821,2
    --84437330(+) ACCTGC/TGTTTC 1 -- int10--------
    rs41502911,2
    C,F,H--84437355(+) TGTTCA/TCTAGC 1 -- int16Minor allele frequency- T:0.04NS EA NA 710
    rs1874544031,2
    --84437425(+) TGATAC/TCAATG 1 -- int10--------
    rs1432480861,2
    --84437436(+) CCTTCC/GTGATG 1 -- int10--------
    rs1924294341,2
    --84437456(+) GGAGCA/GTTAGT 1 -- int10--------
    rs41502921,2
    C,F,H--84437459(+) GCATTA/CGTGAG 1 -- int16Minor allele frequency- C:0.01NS EA WA 708
    rs41502931,2
    C,F--84437500(+) CAGGTC/GTGTCC 1 -- int12Minor allele frequency- G:0.02NS WA 282
    rs1455318251,2
    C--84437655(+) ATGTCC/TTCTGT 1 -- int10--------
    rs603122751,2
    --84437884(+) TCTATC/TAAATA 1 -- int10--------
    rs1434697631,2
    C--84437907(+) CACGTC/TCTGTT 1 -- int10--------
    rs1481541941,2
    --84437967(+) TTGTTC/TATTTA 1 -- int10--------
    rs1147013651,2
    C,F--84438037(+) TTATCC/TGATCT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs415570141,2
    C--84438178(+) CAGATG/TATATG 1 -- int10--------
    rs3721229171,2
    C--84438313(+) CTTTAC/TAGGAA 1 -- int10--------
    rs41502951,2,,4
    C,H--84438329(+) CTTTCA/GTAATC 2 H R mis1 ese37Minor allele frequency- G:0.00NS EA NA 594
    rs1413697321,2
    C--84438379(+) TGCCCC/GCTGAA 2 P A mis11Minor allele frequency- G:0.00NA 4550
    rs562557991,2
    C,F--84438427(+) CCAAGC/TGCAGA 2 R C mis11Minor allele frequency- T:0.00NA 4548
    rs1468337511,2
    C,F--84438428(+) CAAGCG/ACAGAA 2 /H /R mis11Minor allele frequency- A:0.00NA 4548
    rs1407305251,2
    C--84438453(+) GCAATG/ACCAGA 2 /I /M mis11Minor allele frequency- A:0.00NA 4536
    rs41502971,2
    C,F,H--84438574(+) CAGTAA/CACAGC 1 -- int16Minor allele frequency- C:0.02NS EA WA 712
    rs37368651,2
    C,F,A,H--84438587(+) TTCTAC/TATCTC 1 -- int122Minor allele frequency- T:0.28EA NS NA WA CSA 2549
    rs1466894961,2
    --84438615(+) GTATAC/TTTATA 1 -- int10--------
    rs1866413121,2
    --84438649(+) TCTAAC/GAAGTT 1 -- int10--------
    rs73216481,2
    C,F,H--84438688(+) CTTTTC/TTCCTG 1 -- int1 trp318Minor allele frequency- T:0.01NS EA NA WA CSA 804
    rs1914401841,2
    --84438780(+) TTCAGC/TGTCTA 1 -- int10--------
    rs41502981,2
    C,F,H--84438902(+) TAGTCA/CTATAG 1 -- int18Minor allele frequency- C:0.11NS EA WA CSA 716
    rs41502991,2
    C,F,A,H--84438992(+) TTGGCC/TCTCCA 1 -- int116Minor allele frequency- T:0.42NS NA WA CSA EA 676
    rs735739441,2
    C,F--84439027(+) AGTGCG/AAATGG 1 -- int12Minor allele frequency- A:0.03WA 120
    rs39183321,2
    C,F,A,H--84439119(-) AGACAC/TATTTG 1 -- int117Minor allele frequency- T:0.47NA NS EA WA CSA 1590
    rs41503001,2
    C,F,H--84439163(+) TTACTA/GTTGAT 1 -- int115Minor allele frequency- G:0.11NS EA WA CSA 1388
    rs1843781111,2
    C--84439179(+) CCTGTC/GTTAGT 1 -- int10--------
    rs41503011,2
    C,F,H--84439273(+) AGAATC/AGAAAT 1 -- int118Minor allele frequency- A:0.12NS EA NA WA CSA 1884
    rs1896564851,2
    --84439450(+) GTGCAC/GAGAAG 1 -- int10--------
    rs41503021,2
    H--84439689(+) CAACCA/GTGAAG 1 -- int15Minor allele frequency- G:0.00NS EA 598
    rs41503031,2
    C,F,H--84439784(+) ATGTTG/AGGCCT 1 -- int17Minor allele frequency- A:0.03NS EA WA 716
    rs750145851,2
    --84439838(+) AGTGAC/TGGTAG 1 -- int10--------
    rs41503051,2
    C,F,H--84439863(+) AGTAAT/CAATCA 1 -- int16Minor allele frequency- C:0.01NS EA WA 714
    rs1851358551,2
    --84439894(+) ACTCAC/TGGTTT 1 -- int10--------
    rs41503061,2
    C,F--84439969(+) AACAAT/CTCATA 1 -- int113Minor allele frequency- C:0.32NS NA WA CSA EA 551
    rs41503071,2
    C,F--84439972(+) AATTCA/GTAAGT 1 -- int11Minor allele frequency- G:0.01NS 176
    rs1892156121,2
    --84439993(+) ACACCA/GTTCTG 1 -- int10--------
    rs41503081,2
    C,F,H--84440023(+) ACACCC/GTCCTG 1 -- int16Minor allele frequency- G:0.02NS EA WA 708
    rs1495509311,2
    C--84440119(+) TGTCGC/TGGTGA 1 -- int10--------
    rs1442401551,2
    --84440145(+) CGATAC/TTGCAG 1 -- int10--------
    rs13236981,2
    C,F,A,H--84440195(+) cacaaT/Cagtgc 1 -- int119Minor allele frequency- C:0.41NS EA NA WA CSA 1618
    rs1818631681,2
    --84440203(+) TGCAAC/GAGTAT 1 -- int10--------
    rs1865971621,2
    C--84440435(+) TCAGCA/C/GTGTGA 1 -- int10--------
    rs1882606851,2
    --84440497(+) GAAGAA/GAAACA 1 -- int10--------
    rs73330131,2
    C,H--84440550(+) caggcG/Atcctc 1 -- int114Minor allele frequency- A:0.00NA WA CSA EA 377
    rs1807162711,2
    --84440561(+) TGGGGG/TTCTTG 1 -- int10--------
    rs1859685311,2
    --84440574(+) ACATAC/TCCCAA 1 -- int10--------
    rs13236991,2
    C,H--84440618(+) caattA/Gtagta 1 -- int114Minor allele frequency- G:0.01NA WA CSA EA 380
    rs1127170201,2
    F--84440769(+) ATGAGG/TTATTA 1 -- int12Minor allele frequency- T:0.12CSA WA 120
    rs1913178881,2
    --84440921(+) CTACAG/TTCTAG 1 -- int10--------
    rs1830710081,2
    --84440965(+) ACTGCC/TATGCA 1 -- int10--------
    rs1857780601,2
    --84440970(+) TATGCA/GTTACA 1 -- int10--------
    rs73391331,2
    C,H--84441049(+) TTGAGA/GGGAAG 1 -- int17Minor allele frequency- G:0.08NA WA CSA 13
    rs118394371,2
    C,F,H--84441058(+) agtctC/Tgctct 1 -- int11Minor allele frequency- T:0.33NA 6
    rs1906784271,2
    --84441114(+) ACCTCG/TGCCTC 1 -- int10--------
    rs64917151,2
    C,H--84441268(+) CGGTGA/GTCCAC 1 -- int110Minor allele frequency- G:0.00NA WA CSA 21
    rs2020678241,2
    --84441275(+) CCACC-/CATCT 
            
    CGGCC
    1 -- int10--------
    rs556761591,2
    C--84441513(+) ATATAA/GAACAG 1 -- int10--------
    rs2017775031,2
    C--84441581(+) CAAAGC/GCTTGC 2 A G mis10--------
    rs1504739971,2
    F--84441599(+) GAACTA/GTCTGA 2 Y C mis11Minor allele frequency- G:0.00NA 4548
    rs10477691,2,,4
    C,F,H--84441634(+) AGGAAA/GTGAAT 2 M V mis120Minor allele frequency- G:0.03NS MN EA NA EU 7819
    rs41503131,2,,4
    C,F,H--84441641(+) GAATCA/GGCAAC 2 Q R mis141Minor allele frequency- G:0.03NS MN NA EA WA EU 9225
    rs617498961,2
    C,F--84441662(+) CATCCG/AAAGGC 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 5875
    rs1832027561,2
    C--84441683(+) TGAAGA/GGGGCT 2 E G mis10--------
    rs1875643821,2
    C--84441685(+) AAGGGG/TGCTTT 2 G C mis10--------
    rs415457211,