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TCGA tumor abbreviations
  • ACCAdrenocortical carcinoma
  • BLCABladder Urothelial Carcinoma
  • BRCABreast invasive carcinoma
  • CESCCervical squamous cell carcinoma and endocervical adenocarcinoma
  • CHOLCholangio carcinoma
  • COADColon adenocarcinoma
  • DLBCLymphoid Neoplasm Diffuse Large B-cell Lymphoma
  • ESCAEsophageal carcinoma
  • GBMGlioblastoma multiforme
  • HNSCHead and Neck squamous cell carcinoma
  • KICHKidney Chromophobe
  • KIRCKidney renal clear cell carcinoma
  • KIRPKidney renal papillary cell carcinoma
  • LAMLAcute Myeloid Leukemia
  • LGGBrain Lower Grade Glioma
  • LIHCLiver hepatocellular carcinoma
  • LUADLung adenocarcinoma
  • LUSCLung squamous cell carcinoma
  • MESOMesothelioma
  • OVOvarian serous cystadenocarcinoma
  • PAADPancreatic adenocarcinoma
  • PCPGPheochromocytoma and Paraganglioma
  • PRADProstate adenocarcinoma
  • READRectum adenocarcinoma
  • SARCSarcoma
  • SKCMSkin Cutaneous Melanoma
  • STADStomach adenocarcinoma
  • TGCTThyroid carcinoma
  • THCAThyroid carcinoma
  • THYMThymoma
  • UCECUterine Corpus Endometrial Carcinoma
  • UCSUterine Carcinosarcoma
  • UVMUveal Melanoma

Note: Click here to get the extension of tumor abbreviations.


  • Cancer Related Information
  • Basic Information

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
19242824Impact of nucleotide excision repair ERCC2 and base excision repair APEX1 genes polymorphism and its association with recurrence after adjuvant BCG immunotherapy in bladder cancer patients of North India.Med Oncol2010 JunGangawar Rdoi: 10.1007/s12032-009-9187-y
20351547Association between polymorphisms of ERCC1 and XPD and clinical response to platinum-based chemotherapy in advanced non-small cell lung cancer.Am J Clin Oncol2010 OctLi Fdoi: 10.1097/COC.0b013e3181b9cedc.
26918371Roles of XRCC1/XPD/ERCC1 Polymorphisms in Predicting Prognosis of Hepatocellular Carcinoma in Patients Receiving Transcatheter Arterial Chemoembolization.Genet Test Mol Biomarkers2016 AprWang XCdoi: 10.1089/gtmb.2015.0267
22116596Impact of XPD gene polymorphism on risk of prostate cancer on north Indian population.Mol Cell Biochem2012 MarSobti RCdoi: 10.1007/s11010-011-1152-3
12451985Nucleotide excision repair protein levels vis-à-vis anticancer drug resistance in 60 human tumor cell lines.Ai Zheng2002 MarChen ZP-
27069143Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotypes to Colorectal Cancer Risk in Taiwan.Anticancer Res2016 AprChang WS-
23028604Impact of two common xeroderma pigmentosum group D (XPD) gene polymorphisms on risk of prostate cancer.PLoS One2012Mi Ydoi: 10.1371/journal.pone.0044756
20649433Oxidative stress, Helicobacter pylori, and OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms in a Turkish population with colorectal carcinoma.Genet Test Mol Biomarkers2010 AugEngin ABdoi: 10.1089/gtmb.2009.0195.
19895736[Correlation of XPD gene with susceptibility to gastric cancer].Ai Zheng2009 NovZhang CZ-
20111903Associations between XPD polymorphisms and risk of breast cancer: a meta-analysis.Breast Cancer Res Treat2010 AugJiang Zdoi: 10.1007/s10549-010-0751-0
25715450[DNA repair XRCC1, XPD genes polymorphism as associated with the development of bladde r cancer and renal cell carcinoma].Genetika2014 AprAkhmadishina LZ-
24556168Association between ERCC2 Lys751Gln polymorphism and lung cancer risk: a meta-analysis involving 23,370 subjects.Twin Res Hum Genet2014 AprTan Xdoi: 10.1017/thg.2014.4
21643959Impact of DNA repair genes polymorphism (XPD and XRCC1) on the risk of breast cancer in Egyptian female patients.Mol Biol Rep2012 FebHussien YMdoi: 10.1007/s11033-011-0935-7
15298945XPD polymorphism and risk of subsequent cancer in individuals with nonmelanoma skin cancer.Cancer Epidemiol Biomarkers Prev2004 AugBrewster AM-
26659720Increased expression of ERCC2 gene in head and neck cancer is associated with aggressive tumors: a systematic review and case-control study.Int J Biol Markers2016 Feb 28Zafeer Mdoi: 10.5301/jbm.5000186.
25537147Polymorphisms in DNA repair genes and breast cancer risk in Russian population: a case-control study.Clin Exp Med2016 FebShadrina ASdoi: 10.1007/s10238-014-0329-y
17687452Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire.Environ Health Perspect2007 AugApplebaum KM-
23680703A genetic variant in ERCC2 is associated with gastric cancer prognosis in a Chinese population.Mutagenesis2013 JulChu Hdoi: 10.1093/mutage/get023
28489582Association between the ERCC2 Asp312Asn polymorphism and risk of cancer.Oncotarget2017 Jul 18Xiao Fdoi: 10.18632/oncotarget.17290.
30462913THE STUDY OF POLYMORPHISMS OF XPD GENE A751C IN LUNG CANCER PATIENTS WITH DIFFERENT CLINICAL AND MORPHOLOGICAL CHARACTERISTICS OF TUMOR.Vopr Onkol2016Dmitrieva AI-
21390502DNA repair enzyme polymorphisms and oxidative stress in a Turkish population with gastric carcinoma.Mol Biol Rep2011 NovEngin ABdoi: 10.1007/s11033-011-0690-9
18415712Polymorphisms of the XRCC1 and XPD genes and breast cancer risk: a case-control study.Pathol Oncol Res2008 JunKipikasová Ldoi: 10.1007/s12253-008-9034-z
20677654[The association of XPD G312A polymorphism with lung cancer risk: a meta-analysis].Zhongguo Fei Ai Za Zhi2010 MayMei Cdoi: 10.3779/j.issn.1009-3419.2010.05.27.
23973729Genetic polymorphisms of xeroderma pigmentosum group D gene Asp312Asn and Lys751Gln and susceptibility to prostate cancer: a systematic review and meta-analysis.Gene2013 Nov 10Ma Qdoi: 10.1016/j.gene.2013.08.053
21890746Effects of ERCC2 Lys751Gln (A35931C) and CCND1 (G870A) polymorphism on outcome of advanced-stage squamous cell carcinoma of the head and neck are treatment dependent.Cancer Epidemiol Biomarkers Prev2011 NovZhong Sdoi: 10.1158/1055-9965.EPI-11-0520
16054878Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal.DNA Repair (Amst)2005 Sep 28Clarkson SG-
22179996Association between XPD Lys751Gln polymorphism and risk of head and neck cancer: a meta-analysis.Genet Mol Res2011 Nov 22Yuan Hdoi: 10.4238/2011.November.22.6.
24347488Xeroderma pigmentosum complementation group D (XPD) gene polymorphisms contribute to bladder cancer risk: a meta-analysis.Tumour Biol2014 AprLi SXdoi: 10.1007/s13277-013-1519-z
23977265Predictive value of XPD polymorphisms on platinum-based chemotherapy in non-small cell lung cancer: a systematic review and meta-analysis.PLoS One2013 Aug 19Qiu Mdoi: 10.1371/journal.pone.0072251
18347182Correlation of CDA, ERCC1, and XPD polymorphisms with response and survival in gemcitabine/cisplatin-treated advanced non-small cell lung cancer patients.Clin Cancer Res2008 Mar 15Tibaldi Cdoi: 10.1158/1078-0432.CCR-07-1364.
19458053Association of XPD polymorphisms with severe toxicity in non-small cell lung cancer patients in a Chinese population.Clin Cancer Res2009 Jun 1Wu Wdoi: 10.1158/1078-0432.CCR-08-2715
21751184SNP-SNP interactions between DNA repair genes were associated with breast cancer risk in a Korean population.Cancer2012 Feb 1Han Wdoi: 10.1002/cncr.26220
24933002Common variants of xeroderma pigmentosum genes and prostate cancer risk.Gene2014 Aug 10Mirecka Adoi: 10.1016/j.gene.2014.06.026
24402573Single nucleotide polymorphisms (SNPs) of ERCC2, hOGG1, and XRCC1 DNA repair genes and the risk of triple-negative breast cancer in Polish women.Tumour Biol2014 AprSmolarz Bdoi: 10.1007/s13277-013-1461-0
20204500XPD Lys751Gln polymorphism and breast cancer susceptibility: a meta-analysis involving 28,709 subjects.Breast Cancer Res Treat2010 NovQiu LXdoi: 10.1007/s10549-010-0813-3
25722380Effect of BRCA1 and XPG mutations on treatment response to trabectedin and pegylated liposomal doxorubicin in patients with advanced ovarian cancer: exploratory analysis of the phase 3 OVA-301 study.Ann Oncol2015 MayMonk BJdoi: 10.1093/annonc/mdv071
17009404Xeroderma pigmentosum group D 751 polymorphism as a predictive factor in resected gastric cancer treated with chemo-radiotherapy.World J Gastroenterol2006 Oct 7Zarate RN-
25469049Xeroderma pigmentosum group D polymorphisms and esophageal cancer susceptibility: a meta-analysis based on case-control studies.World J Gastroenterol2014 Nov 28Yang Rdoi: 10.3748/wjg.v20.i44.16765.
17363013XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer.Mutat Res2007 Jun 1Hansen RD-
19109787Polymorphisms of DNA repair genes: ADPRT, XRCC1, and XPD and cancer risk in genetic epidemiology.Methods Mol Biol2009Jiang Jdoi: 10.1007/978-1-59745-416-2_16.
24504678Complex association between ERCC2 gene polymorphisms, gender, smoking and the susceptibility to bladder cancer: a meta-analysis.Tumour Biol2014 JunWu Ydoi: 10.1007/s13277-014-1682-x
18559563Detecting pathway-based gene-gene and gene-environment interactions in pancreatic cancer.Cancer Epidemiol Biomarkers Prev2008 JunDuell EJdoi: 10.1158/1055-9965.EPI-07-2797.
24157118Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and different stages of carcinomas.Chirurgia (Bucur)2013 Sep-OctProcopciuc LM-
21129812Assessment of XPD Lys751Gln and XRCC1 T-77C polymorphisms in advanced non-small-cell lung cancer patients treated with platinum-based chemotherapy.Lung Cancer2011 JulLiu Ldoi: 10.1016/j.lungcan.2010.11.004
15754315Association of polymorphisms in the cyclin D1 and XPD genes and susceptibility to cancers of the upper aero-digestive tract.Mol Carcinog2005 AprBuch S-
21075476No evidence of an association of ERCC1 and ERCC2 polymorphisms with clinical outcomes of platinum-based chemotherapies in non-small cell lung cancer: a meta-analysis.Lung Cancer2011 JunYin Mdoi: 10.1016/j.lungcan.2010.10.011
26782397Genetic variability of ERCC1 and ERCC2 influences treatment outcomes in gastric cancer.Genet Mol Res2015 Dec 21Yu WHdoi: 10.4238/2015.December.21.25.
24338713The association between the ERCC1/2 polymorphisms and the clinical outcomes of the platinum-based chemotherapy in non-small cell lung cancer (NSCLC): a systematic review and meta-analysis.Tumour Biol2014 AprYang Ydoi: 10.1007/s13277-013-1493-5
21601580HapMap-based study of a region encompassing ERCC1 and ERCC2 related to lung cancer susceptibility in a Chinese population.Mutat Res2011 Aug 1Yin Jdoi: 10.1016/j.mrfmmm.2011.05.003
20981556ERCC2 Lys751Gln and Asp312Asn polymorphisms and gastric cancer risk: a meta-analysis.J Cancer Res Clin Oncol2011 JunChen Bdoi: 10.1007/s00432-010-0956-y
20514470Genetic polymorphisms in the DNA repair genes XPD and XRCC1, p53 gene mutations and bladder cancer risk.Oncol Rep2010 JulGao W-
16458430The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk.Cancer Lett2007 Jan 8Jiao L-
25596702Prognostic value of ERCC1, ERCC2, XRCC1, and TP53 single nucleotide polymorphisms in patients with early-stage non-small cell lung cancer.Tumour Biol2015 JunGeredeli Cdoi: 10.1007/s13277-015-3066-2
25113251Association between the XPD/ERCC2 Lys751Gln polymorphism and risk of cancer: evidence from 224 case-control studies.Tumour Biol2014 NovWu KGdoi: 10.1007/s13277-014-2379-x
20842450Effects of selected genetic polymorphisms in xeroderma pigmentosum complementary group D on gastric cancer.Mol Biol Rep2011 MarChen Zdoi: 10.1007/s11033-010-0258-0
27173253Genetic variability of ERCC1 and ERCC2 genes involved in the nucleotide excision repair pathway influences the treatment outcome of gastric cancer.Genet Mol Res2016 Apr 26Zheng DLdoi: 10.4238/gmr.15027384.
23996617Predictive value of ERCC1, ERCC2, and XRCC1 overexpression for stage III colorectal cancer patients receiving FOLFOX-4 adjuvant chemotherapy.J Surg Oncol2013 DecHuang MYdoi: 10.1002/jso.23422
18081788Protein expression levels of excision repair cross-complementation group 1 and xeroderma pigmentosum D correlate with response to platinum-based chemotherapy in the patients with advanced epithelial ovarian cancer.Int J Gynecol Cancer2008 Sep-OctLin K-
19669592XPD Lys(751)Gln and Asp (312)Asn polymorphisms and bladder cancer risk: a meta-analysis.Mol Biol Rep2010 JanLi Cdoi: 10.1007/s11033-009-9693-1
24083550Polymorphism of ERCC2 Asp312Asn with lung cancer risk: evidence from 20,101 subjects.Genet Test Mol Biomarkers2014 JanTan Xdoi: 10.1089/gtmb.2013.0296
18365755Bladder cancer, GSTs, NAT1, NAT2, SULT1A1, XRCC1, XRCC3, XPD genetic polymorphisms and coffee consumption: a case-control study.Eur J Epidemiol2008Covolo Ldoi: 10.1007/s10654-008-9238-2.
21278243ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis.Clin Cancer Res2011 Mar 15Yin Mdoi: 10.1158/1078-0432.CCR-10-2169
21667112XPD Lys751Gln polymorphism and esophageal cancer susceptibility: a meta-analysis of case-control studies.Mol Biol Rep2012 MarDing DPdoi: 10.1007/s11033-011-1005-x
16835333Polymorphisms in the two helicases ERCC2/XPD and ERCC3/XPB of the transcription factor IIH complex and risk of lung cancer: a case-control analysis in a Chinese population.Cancer Epidemiol Biomarkers Prev2006 JulHu Z-
18349268DNA repair gene XPD polymorphisms and cancer risk: a meta-analysis based on 56 case-control studies.Cancer Epidemiol Biomarkers Prev2008 MarWang Fdoi: 10.1158/1055-9965.EPI-07-2507.
19561388Common polymorphisms in the XPD and hOGG1 genes are not associated with the risk of colorectal cancer in a Polish population.Tohoku J Exp Med2009 JulSliwinski T-
25089939Polymorphism of DNA repair genes OGG1, XRCC1, XPD and ERCC6 in bladder cancer in Belarus.Biomarkers2014 SepRamaniuk VPdoi: 10.3109/1354750X.2014.943291
24023723ERCC1 and ERCC2 variants predict survival in gastric cancer patients.PLoS One2013 Sep 2Li Ydoi: 10.1371/journal.pone.0071994
11751380A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer.Cancer Res2001 Dec 15Park DJ-
23534729XPD Lys751Gln and Asp312Asn polymorphisms and gastric cancer susceptibility: a meta-analysis of case-control studies.Asian Pac J Cancer Prev2013Yin QH-
20571908MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck cancer susceptibility: a case control study.Mol Biol Rep2011 FebSliwinski Tdoi: 10.1007/s11033-010-0224-x
26617899Association of NER pathway gene polymorphisms with susceptibility to laryngeal cancer in a Chinese population.Int J Clin Exp Pathol2015 Sep 1Sun Y-
25812040Single nucleotide polymorphisms in the DNA repair genes in HPV-positive cervical cancer.Eur J Cancer Prev2016 MayBajpai Ddoi: 10.1097/CEJ.0000000000000159.
21614524Association of ERCC2/XPD polymorphisms and interaction with tobacco smoking in lung cancer susceptibility: a systemic review and meta-analysis.Mol Biol Rep2012 JanFeng Zdoi: 10.1007/s11033-011-0710-9
20627704ERCC2 Lys751Gln polymorphism is associated with lung cancer among Caucasians.Eur J Cancer2010 SepZhang Jdoi: 10.1016/j.ejca.2010.05.008
17913280Polymorphisms in nucleotide excision repair genes, smoking and intake of fruit and vegetables in relation to lung cancer.Lung Cancer2008 FebRaaschou-Nielsen O-
20127278The association between ERCC2 Asp312Asn polymorphism and breast cancer risk: a meta-analysis involving 22,766 subjects.Breast Cancer Res Treat2010 AugYao Ldoi: 10.1007/s10549-010-0754-x
21404106A phase II trial of erlotinib in combination with gemcitabine and capecitabine in previously untreated metastatic/recurrent pancreatic cancer: combined analysis with translational research.Invest New Drugs2012 JunOh DYdoi: 10.1007/s10637-011-9651-3
25308691Association between genetic polymorphisms in XPD and XRCC1 genes and risks of non-small cell lung cancer in East Chinese Han population.Clin Respir J2016 MayDu Ydoi: 10.1111/crj.12218
21793320Significant association of XPD Asp312Asn polymorphism with breast cancer in Taiwanese patients.Chin J Physiol2010 Apr 30Wang HC-
26253951Use a survival model to correlate single-nucleotide polymorphisms of DNA repair genes with radiation dose-response in patients with non-small cell lung cancer.Radiother Oncol2015 OctJin JYdoi: 10.1016/j.radonc.2015.07.024
15679883Polymorphisms of the XRCC1, XRCC3, & XPD genes, and colorectal cancer risk: a case-control study in Taiwan.BMC Cancer2005 Jan 28Yeh CC-
26985954Association between ERCC1 and ERCC2 polymorphisms and breast cancer risk in a Chinese population.Genet Mol Res2016 Mar 11Zhao Rdoi: 10.4238/gmr.15017263.
19846926Significant association of XPD codon 312 single nucleotide polymorphism with bladder cancer susceptibility in Taiwan.Anticancer Res2009 OctChang CH-
23028453The effect of XPD/ERCC2 polymorphisms on gastric cancer risk among different ethnicities: a systematic review and meta-analysis.PLoS One2012Xue Hdoi: 10.1371/journal.pone.0043431
19429237DNA repair genotype interacts with arsenic exposure to increase bladder cancer risk.Toxicol Lett2009 May 22Andrew ASdoi: 10.1016/j.toxlet.2009.01.013
18778871Stratification for smoking in case-cohort studies of genetic polymorphisms and lung cancer.Lung Cancer2009 MarSorensen Mdoi: 10.1016/j.lungcan.2008.06.016
26124006Association between polymorphisms of BAG-1 and XPD and chemotherapy sensitivity in advanced non-small-cell lung cancer patients treated with vinorelbine combined cisplatin regimen.Tumour Biol2015 DecLi Pdoi: 10.1007/s13277-015-3672-z
22479369Effect of polymorphisms in XPD on clinical outcomes of platinum-based chemotherapy for Chinese non-small cell lung cancer patients.PLoS One2012Wu Wdoi: 10.1371/journal.pone.0033200
25117088Polymorphisms in the DNA repair gene ERCC2/XPD and breast cancer risk: a HapMap-based case-control study among Han Women in a Chinese less-developed area.Genet Test Mol Biomarkers2014 OctWang Tdoi: 10.1089/gtmb.2014.0028
24535265The association between the Lys751Gln polymorphism in the XPD gene and the risk of bladder cancer.Mol Biol Rep2014Xiong Tdoi: 10.1007/s11033-014-3121-x
20229274Polymorphisms in DNA repair genes XRCC1, XRCC3 and XPD, and colorectal cancer risk: a case-control study in an Indian population.J Cancer Res Clin Oncol2010 OctWang Jdoi: 10.1007/s00432-010-0809-8
24716840MnSOD rs4880 and XPD rs13181 polymorphisms predict the survival of breast cancer patients treated with adjuvant tamoxifen.Acta Oncol2014 JunTengstrom Mdoi: 10.3109/0284186X.2014.892210
26349749The R156R ERCC2 polymorphism as a risk factor of endometrial cancer.Tumour Biol2016 FebMichalska MMdoi: 10.1007/s13277-015-4040-8
20651612ERCC2/XPD Lys751Gln and Asp312Asn gene polymorphism and lung cancer risk: a meta-analysis involving 22 case-control studies.J Thorac Oncol2010 SepZhan Pdoi: 10.1097/JTO.0b013e3181e7fe2a.
18085999Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patients: relationships with treatment outcome.Pharmacogenomics2007 DecLe Morvan V-
17693188Polymorphisms of the DNA gene XPD and risk of bladder cancer in a Southeastern Chinese population.Cancer Genet Cytogenet2007 AugShao J-
21541661Lack of association between XPD Lys751Gln and Asp312Asn polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies.Int J Colorectal Dis2011 OctZhang Ydoi: 10.1007/s00384-011-1222-8
22994779GSTP1, ERCC1 and ERCC2 polymorphisms, expression and clinical outcome of oxaliplatin-based adjuvant chemotherapy in colorectal cancer in Chinese population.Asian Pac J Cancer Prev2012Li HY-
18459458XPD Lys751Gln polymorphism analysis in women with sporadic breast cancer.Pol J Pathol2007Romanowicz-Makowska H-
17504986Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer.Clin Cancer Res2007 May 15Giachino DF-
27051038Association between ERCC1 and ERCC2 gene polymorphisms and susceptibility to pancreatic cancer.Genet Mol Res2016 Mar 31He MGdoi: 10.4238/gmr.15017879.
22536360Associations between XPD Asp312Asn polymorphism and risk of head and neck cancer: a meta-analysis based on 7,122 subjects.PLoS One2012Hu YYdoi: 10.1371/journal.pone.0035220
12435843ERCC2/XPD gene polymorphisms and cancer risk.Mutagenesis2002 NovBenhamou S-
24140460HapMap-based study identifies risk sub-region on chromosome 19q13.3 in relation to lung cancer among Chinese.Cancer Epidemiol2013 DecYin Jdoi: 10.1016/j.canep.2013.09.016
11891028Lys751Gln polymorphism in the DNA repair gene XPD and risk of primary lung cancer.Lung Cancer2002 AprPark JY-
22890093Polymorphisms in XPD and hOGG1 and prostate cancer risk: a meta-analysis.Urol Int2012Zhu Sdoi: 10.1159/000339603
18454848DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk.Mol Cancer2008 May 2Bernard-Gallon Ddoi: 10.1186/1476-4598-7-36.
25391773Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population.Mol Biol Rep2015 MarPaszkowska-Szczur Kdoi: 10.1007/s11033-014-3824-z
26125734Relationship between DNA repair gene XPD751 single-nucleotide polymorphisms and prognosis of colorectal cancer.Genet Mol Res2015 May 22Dong Ydoi: 10.4238/2015.May.22.8.
18044339[Polymorphism Lys751Gln of XPD gene and breast cancer risk in women].Pol Merkur Lekarski2007 AugRomanowicz-Makowska H-
12151350DNA repair gene XRCC1 and XPD polymorphisms and risk of lung cancer in a Chinese population.Carcinogenesis2002 AugChen S-
22579466No evidence of association between the synonymous polymorphisms in XRCC1 and ERCC2 and breast cancer susceptibility among nonsmoking Chinese.Gene2012 Jul 15Yin Jdoi: 10.1016/j.gene.2012.04.072
19041121Influence of XPD and APE1 DNA repair gene polymorphism on bladder cancer susceptibility in north India.Urology2009 MarGangwar Rdoi: 10.1016/j.urology.2008.09.043
26191265Genetic variability of genes in NER pathway influences the treatment outcome of gastric cancer.Int J Clin Exp Pathol2015 May 1Xue MH-
23317245Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population.Asian Pac J Cancer Prev2012Gan Y-
18534129Genetic polymorphisms in the DNA repair enzyme ERCC2 and breast tumour risk in a Chinese population.J Int Med Res2008 May-JunLi J-
17498557A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but not the variant allele of Asp312Asn is associated with risk of lung cancer in a northeastern Chinese population.Cancer Genet Cytogenet2007 MayYin J-
24101192XPD Asp312Asn and Lys751Gln polymorphisms and breast cancer susceptibility: a meta-analysis.Tumour Biol2014 MarYan Ydoi: 10.1007/s13277-013-1256-3
19914098DNA repair gene polymorphisms and prostate cancer risk in South Australia--results of a pilot study.Urol Oncol2011 Nov-DecDhillon VSdoi: 10.1016/j.urolonc.2009.08.013
12692111Polymorphisms in the DNA repair genes XRCC1 and ERCC2, smoking, and lung cancer risk.Cancer Epidemiol Biomarkers Prev2003 AprZhou W-
24362511Meta-analysis on the association of nucleotide excision repair gene XPD A751C variant and cancer susceptibility among Indian population.Mol Biol Rep2014 FebMandal RKdoi: 10.1007/s11033-013-2910-y
11960912The XPD variant alleles are associated with increased aromatic DNA adduct level and lung cancer risk.Carcinogenesis2002 AprHou SM-
26898429Single nucleotide polymorphisms in DNA repair genes and the risk of laryngeal cancer: A meta-analysis.Biomed Pharmacother2016 MarLi Fdoi: 10.1016/j.biopha.2015.12.019
25520091The XPD Lys751Gln polymorphism has predictive value in colorectal cancer patients receiving oxaliplatin-based chemotherapy: a systemic review and meta-analysis.Asian Pac J Cancer Prev2014Qian YY-
25542228Genetic polymorphisms of DNA repair pathways influence the response to chemotherapy and overall survival of gastric cancer.Tumour Biol2015 AprZhou Jdoi: 10.1007/s13277-014-2936-3
24652592XPD Lys751Gln polymorphism is not associated with oral cancer risk: evidence from a meta-analysis.Tumour Biol2014 JulCui Jdoi: 10.1007/s13277-014-1835-y
19724896Proteins and single nucleotide polymorphisms involved in apoptosis, growth control, and DNA repair predict cisplatin sensitivity in head and neck cancer cell lines.Int J Mol Med2009 OctFarnebo L-
17695467Association of XPD polymorphisms with prostate cancer in Taiwanese patients.Anticancer Res2007 Jul-AugBau DT-
23771356Genetic polymorphisms of xeroderma pigmentosum group D and prostate cancer risk: a meta-analysis.J Cancer Res Ther2013 Apr-JunZhu Hdoi: 10.4103/0973-1482.113345.
25835182An association of selected ERCC2 and ERCC5 genes polymorphisms, the level of oxidative DNA damage and its repair efficiency with a risk of colorectal cancer in Polish population.Cancer Biomark2015Kabzinski Jdoi: 10.3233/CBM-150488.
24390613Association of single nucleotide polymorphisms in ERCC2 gene and their haplotypes with esophageal squamous cell carcinoma.Tumour Biol2014 MayZhang Ydoi: 10.1007/s13277-013-1553-x
20354818The association between XPD Asp312Asn polymorphism and lung cancer risk: a meta-analysis including 16,949 subjects.Med Oncol2011 SepZhang Jdoi: 10.1007/s12032-010-9501-8
16319991Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer.Breast Cancer Res Treat2006 JanBrewster AM-
23044807Association of XRCC1, XRCC3, and XPD genetic polymorphism with an increased risk of hepatocellular carcinoma because of the hepatitis B and C virus.Eur J Gastroenterol Hepatol2013 FebGulnaz Adoi: 10.1097/MEG.0b013e328359a775.
21627375Lack of any relationship between chemotherapy toxicity in non-small cell lung cancer cases and polymorphisms in XRCC1 codon 399 or XPD codon 751.Asian Pac J Cancer Prev2011Li Y-
24716924Interaction of XRCC1 and XPD gene polymorphisms with lifestyle and environmental factors regarding susceptibility to lung cancer in a high incidence population in North East India.Asian Pac J Cancer Prev2014Saikia BJ-
20863780Association of DNA repair gene XRCC1 and XPD polymorphisms with genetic susceptibility to gastric cancer in a Chinese population.Cancer Epidemiol2011 AprYuan Tdoi: 10.1016/j.canep.2010.08.008
23740134Role of XRCC3, XRCC1 and XPD single-nucleotide polymorphisms in survival outcomes following adjuvant chemotherapy in early stage breast cancer patients.Clin Transl Oncol2014 FebCastro Edoi: 10.1007/s12094-013-1055-8
15886521Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer.Exp Mol Med2005 Apr 30Lee SA-
24531312Association of ERCC1 and ERCC2 polymorphisms with colorectal cancer risk in a Chinese population.Sci Rep2014 Feb 17Ni Mdoi: 10.1038/srep04112.
22644997XPD Asp312Asn polymorphism is a risk factor for prostate cancer.J Cancer Res Clin Oncol2012 OctLiao SG-
15090466Reduced DNA repair of benzo[a]pyrene diol epoxide-induced adducts and common XPD polymorphisms in breast cancer patients.Carcinogenesis2004 SepShi Q-
24845027Comprehensive assessment of the association between XPD rs13181 polymorphism and lung cancer risk.Tumour Biol2014 AugWu HYdoi: 10.1007/s13277-014-1948-3
19466538The polymorphism of DNA repair gene ERCC2/XPD Arg156Arg and susceptibility to breast cancer in a Chinese population.Biochem Genet2009 AugYin Jdoi: 10.1007/s10528-009-9246-2
21726821Chemotherapy-induced neutropenia does not correlate with DNA repair gene polymorphisms and treatment efficacy in advanced non-small-cell lung cancer patients.Clin Lung Cancer2011 JulIranzo Vdoi: 10.1016/j.cllc.2011.03.023
24443924Association of XPD Lys751Gln polymorphism with head and neck cancer susceptibility: evidence from 11,443 subjects.Diagn Pathol2014 Jan 20Lin Hdoi: 10.1186/1746-1596-9-15.
23390054Prognostic factors in gemcitabine-cisplatin polychemotherapy regimens in pancreatic cancer: XPD-Lys751Gln polymorphism strikes back.Int J Cancer2013 Aug 15Avan Adoi: 10.1002/ijc.28078
18267032ERCC2 2251A>C genetic polymorphism was highly correlated with early relapse in high-risk stage II and stage III colorectal cancer patients: a preliminary study.BMC Cancer2008 Feb 12Huang MYdoi: 10.1186/1471-2407-8-50.
26254397Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotype to Gastric Cancer Risk in Taiwan.Anticancer Res2015 SepJi HX-
20070155DNA repair gene X-ray repair cross-complementing group 1 and xeroderma pigmentosum group D polymorphisms and risk of prostate cancer: a study from North India.DNA Cell Biol2010 AprMandal RKdoi: 10.1089/dna.2009.0956.
12740916Sequence variations in the DNA repair gene XPD and risk of lung cancer in a Chinese population.Int J Cancer2003 Jul 10Liang G-
21178723ERCC2/XPD polymorphisms and lung cancer risk.J Thorac Oncol2011 JanChristiani DCdoi: 10.1097/JTO.0b013e318200e058.
27819744Correlation between gene polymorphisms of CYP1A1, GSTP1, ERCC2, XRCC1, and XRCC3 and susceptibility to lung cancer.Genet Mol Res2016 Nov 3Liu HXdoi: 10.4238/gmr15048813.
19492231XPD polymorphisms, cigarette smoking, and bladder cancer risk: a meta-analysis.J Toxicol Environ Health A2009Wang Mdoi: 10.1080/15287390902841029.
27504877Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.PLoS Genet2016 Aug 9Rump Adoi: 10.1371/journal.pgen.1006248
28230823Polymorphism of DNA repair gene XPD Lys751Gln and chromosome aberrations in lymphocytes of thyroid cancer patients exposed to ionizing radiation due to the Chornobyl accident.Exp Oncol2016 DecShkarupa VM-
27888704Association of R156R single nucleotide polymorphism of the ERCC2 gene with the susceptibility to ovarian cancer.Eur J Obstet Gynecol Reprod Biol2017 JanRomanowicz Hdoi: 10.1016/j.ejogrb.2016.11.012
27607585Exploratory analysis of ERCC2 DNA methylation in survival among pediatric medulloblastoma patients.Cancer Epidemiol2016 OctBanfield Edoi: 10.1016/j.canep.2016.08.020
27111033Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors.Nat Genet2016 JunKim Jdoi: 10.1038/ng.3557
27908619Correlation of DNA Repair Gene Polymorphisms With Clinical Outcome in Patients With Locally Advanced Non-Small-Cell Lung Cancer Receiving Induction Chemotherapy Followed by Surgery.Clin Lung Cancer2017 MarSantarpia Mdoi: 10.1016/j.cllc.2016.08.007
27863412Associations between XRCC2 rs3218536 and ERCC2 rs13181 polymorphisms and ovarian cancer.Oncotarget2016 Dec 27Zhang Wdoi: 10.18632/oncotarget.13361.
27588464Predictive value of XPG rs2296147T>C polymorphism on clinical outcomes of cancer patients.Oncotarget2016 Oct 4Wang Ydoi: 10.18632/oncotarget.11664.
28223548Association between ERCC2 Lys751Gln polymorphism and the risk of pancreatic cancer, especially among Asians: evidence from a meta-analysis.Oncotarget2017 Jul 25Wu Ydoi: 10.18632/oncotarget.15394.
29544444Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study.BMC Cancer2018 Mar 15Hardi Hdoi: 10.1186/s12885-018-4214-z.
30194171Studies of Correlations Between Single Nucleotide Polymorphisms of DNA Repair Genes and Endometrial Cancer in Polish Women.Anticancer Res2018 SepSmolarz Bdoi: 10.21873/anticanres.12846.
30225185DNA Repair Gene XRCC1 and XPD Polymorphisms and Gastric Cancer Risk: A Case-Control Study Outcome from Kashmir, India.Anal Cell Pathol (Amst)2018 Aug 26Nissar Bdoi: 10.1155/2018/3806514
30535472miR1385p modulates the expression of excision repair crosscomplementing proteins ERCC1 and ERCC4, and regulates the sensitivity of gastric cancer cells to cisplatin.Oncol Rep2019 FebNing Jdoi: 10.3892/or.2018.6907
29669843The association of polymorphisms in nucleotide excision repair genes with ovarian cancer susceptibility.Biosci Rep2018 Jun 21Zhao Zdoi: 10.1042/BSR20180114
30581498Predictive Value of Two Polymorphisms of ERCC2, rs13181 and rs1799793, in Clinical Outcomes of Chemotherapy in Gastric Cancer Patients: A Meta-Analysis.Dis Markers2018 Nov 19Li Mdoi: 10.1155/2018/3947626
28707579The Involvement of ERCC2/XPD and ERCC6/CSB Wild Type Alleles in Protection Against Aging and Cancer.Curr Aging Sci2018Savina NVdoi: 10.2174/1874609810666170707101548.
29572009Combined effect of ERCC1 and ERCC2 polymorphisms on overall survival in non-squamous non-small-cell lung cancer patients treated with first-line pemetrexed/platinum.Lung Cancer2018 AprLiao WYdoi: 10.1016/j.lungcan.2018.01.011

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
BLCAchr1945353098Missense_MutationnovelE606Q0.35
BLCAchr1945352577Missense_MutationNAH659Y0.25
BLCAchr1945361540SilentnovelV407V0.12
BLCAchr1945369122Missense_MutationNAS44L0.2ResIII
BLCAchr1945352776SilentnovelP624P0.09
BLCAchr1945364429Missense_MutationNAN238S0.17
BLCAchr1945357523Missense_MutationnovelA443V0.55
BLCAchr1945368638Missense_MutationnovelH118Y0.53ResIII
BLCAchr19453514233'UTRnovel0.46
BLCAchr1945364313Missense_MutationnovelS246Y0.09
BLCAchr1945357298Missense_MutationNAT484M0.36
BLCAchr1945357581Intronnovel0.26
BLCAchr1945368961Missense_MutationnovelY72C0.35ResIII
BLCAchr19453515813'UTRnovel0.42
BLCAchr1945364885SilentNAL183L0.48
BLCAchr1945364079Missense_MutationNAR286W0.37
BLCAchr1945357709Intronnovel0.14
BLCAchr1945364512Missense_MutationnovelH210Q0.53
BLCAchr1945370312Intronnovel0.25
BLCAchr1945352529Missense_MutationNAG675S0.45
BLCAchr1945353098Missense_MutationnovelE606Q0.5
BLCAchr1945370280Intronnovel0.18
BLCAchr1945368961Missense_MutationnovelY72C0.2ResIII
BLCAchr1945353094Missense_MutationNAG607A0.3
BLCAchr1945364516Missense_MutationNAY209C0.25
BLCAchr1945364429Missense_MutationNAN238S0.22
BLCAchr1945370197Missense_MutationNAY14C0.11
BLCAchr1945370281Intronnovel0.21
BLCAchr1945368734Missense_MutationNAE86Q0.44ResIII
BLCAchr1945364429Missense_MutationNAN238S0.38
BLCAchr1945357659SilentNAP426P0.18
BLCAchr1945357478Missense_MutationnovelS458C0.13
BLCAchr1945368961Missense_MutationnovelY72C0.21ResIII
BLCAchr1945369122Missense_MutationNAS44L0.19ResIII
BLCAchr1945370197Missense_MutationNAY14C0.17
BLCAchr1945364429Missense_MutationNAN238S0.34
BLCAchr1945364429Missense_MutationNAN238S0.36
BLCAchr1945364429Missense_MutationNAN238S0.62
BLCAchr1945364313Missense_MutationnovelS246F0.46
BLCAchr1945364429Missense_MutationNAN238S0.68
BLCAchr1945368937Missense_MutationnovelI80T0.4ResIII
BLCAchr1945368734Missense_MutationNAE86Q0.22ResIII
BLCAchr1945354735Missense_MutationnovelE554Q0.45
BLCAchr1945358870Intronnovel0.29
BLCAchr1945368955Missense_MutationNAS74L0.31ResIII
BLCAchr1945369122Missense_MutationNAS44L0.29ResIII
BLCAchr1945370197Missense_MutationNAY14C0.31
BLCAchr1945355723Silentrs758510144I495I0.27
BLCAchr1945351640Missense_MutationNAQ758E0.12
BLCAchr1945364429Missense_MutationNAN238S0.27
BLCAchr1945364429Missense_MutationNAN238S0.48
BRCAchr19453514143'UTRnovel0.36
BRCAchr1945364872Missense_MutationNAQ187R0.38
BRCAchr1945357279SilentNAL490L0.14
BRCAchr1945358693Intronnovel0.46
BRCAchr1945370348Intronnovel0.44
BRCAchr19453516093'UTRnovel0.15
BRCAchr1945370228Missense_MutationnovelN4D0.2
BRCAchr1945370229SilentnovelL3L0.2
BRCAchr1945353241Splice_Siters760834687X586_splice0.29
CESCchr1945361573SilentnovelP396P0.37
CESCchr1945361853Intronnovel0.48
CESCchr19453516143'UTRnovel0.41
CESCchr1945364119Missense_MutationNAR272S0.57
CESCchr1945357519SilentnovelI444I0.09
CESCchr1945370305Intronnovel0.97
CESCchr1945358758Intronnovel0.43
CESCchr19453514883'UTRnovel0.33
CESCchr1945364086SilentnovelD283D0.5
CHOLchr1945352529Missense_MutationnovelG675C0.48
CHOLchr1945361926Intronnovel0.5
COADchr1945353133Missense_MutationNAA594D0.22
COADchr1945370168In_Frame_DelNAS23del0.35ResIII
COADchr1945357671Silentrs142702501D422D0.31
COADchr1945370520IntronNA0.24
COADchr1945355718Missense_Mutationrs757432268R497H0.3
COADchr1945364489Missense_MutationNAA218V0.26
COADchr1945352226Missense_MutationNAA725T0.4
COADchr1945361594Silentrs765430756T389T0.09
COADchr1945368727Missense_Mutationrs777095373R88Q0.27ResIII
COADchr1945352631Missense_Mutationrs769085031R641W0.24
COADchr1945357365Missense_MutationnovelS462P0.22
COADchr1945361598Missense_MutationNAI388T0.33
COADchr1945355676Missense_Mutationrs772572683R511Q0.38
COADchr1945358873IntronNA0.38
COADchr1945357650SilentNAA429A0.56
ESCAchr1945357529Missense_Mutationrs760834335S441L0.29
GBMchr1945364254SilentnovelL266L0.22
GBMchr1945364879Missense_Mutationrs139884931R185W0.35
GBMchr1945370160SilentNAR26R0.3
GBMchr1945357591Intronnovel0.13
GBMchr1945361776Intronnovel0.38
HNSCchr19453514473'UTRnovel0.36
HNSCchr1945352243Missense_Mutationrs533062241Y719C0.33
HNSCchr19453705625'UTRnovel0.22
HNSCchr1945352206Splice_Regionnovel0.44
HNSCchr1945368955Nonsense_MutationnovelS74*0.28ResIII
HNSCchr1945357311Missense_Mutationrs757100147T480A0.3
HNSCchr1945352751Missense_MutationnovelL633F0.49
HNSCchr1945357665SilentnovelR424R0.09
HNSCchr1945364451Missense_Mutationrs200895828V231M0.15
KIRCchr1945354733SilentnovelE554E0.16
KIRPchr1945353106Missense_Mutationrs745695024K603T0.39
KIRPchr1945370511Intronnovel0.39
KIRPchr1945364104Silentrs547544775D277D0.19
KIRPchr1945365057SilentNAH154H0.48
LAMLchr1945365129Silentrs757159764V130V0.16
LGGchr1945354843Missense_Mutationrs778075234R518W0.24
LGGchr1945352796Missense_MutationNAV618I0.34
LIHCchr1945357299Missense_MutationNAT484A0.4
LIHCchr1945357752Intronnovel0.33
LIHCchr1945370358Intronnovel0.26
LIHCchr1945357371Missense_MutationnovelT460A0.29
LIHCchr1945363890Missense_MutationnovelR324P0.5
LIHCchr1945352795Missense_MutationNAV618G0.29
LUADchr1945354794Missense_MutationNAG534D0.59
LUADchr1945352515Frame_Shift_DelnovelF679Cfs*940.06
LUADchr1945370266Intronnovel0.33
LUADchr1945364328Missense_MutationNAN241I0.55
LUADchr1945357498Missense_MutationNAF451L0.38
LUADchr1945364246Missense_MutationnovelK268N0.31
LUSCchr1945364882Missense_MutationnovelG184W0.21
LUSCchr1945361612SilentNAL383L0.33
LUSCchr1945352268Missense_Mutationrs763610846D711N0.29
LUSCchr1945364835Splice_Regionnovel0.22
LUSCchr1945358922Intronnovel0.18
LUSCchr19453514473'UTRnovel0.35
LUSCchr1945355674Missense_MutationnovelE512K0.18
LUSCchr1945353299SilentNAL567L0.07
LUSCchr1945364878Missense_MutationnovelR185L0.22
LUSCchr1945368965Missense_MutationnovelI71V0.06ResIII
LUSCchr1945353098Missense_MutationnovelE606K0.16
OVchr1945368719Frame_Shift_InsnovelL91Ifs*100.16ResIII
OVchr1945354762Missense_MutationnovelM545L0.09
OVchr19453513793'UTRrs3731696400.31
OVchr19453516183'UTRnovel0.17
OVchr1945368651Missense_MutationnovelK113N0.11ResIII
PAADchr1945364244Missense_MutationNAT269M0.14
PAADchr1945357671Silentrs142702501D422D0.09
PAADchr1945358746Intronnovel0.21
PAADchr1945364446SilentnovelV232V0.14
PRADchr1945353097Missense_MutationnovelE606G0.33
PRADchr1945355677Missense_MutationNAR511W0.26
PRADchr1945364443Silentrs141816180F233F0.18
PRADchr1945354801Missense_MutationNAP532S0.33
SKCMchr1945352344Silentrs777919686A685A0.27
SKCMchr1945365100Missense_MutationnovelS140F0.53ResIII
SKCMchr1945364476SilentNAS222S0.16
SKCMchr1945352316Missense_Mutationrs201392911R695C0.32
SKCMchr1945364448Missense_MutationnovelV232F0.29
SKCMchr1945353260SilentNAA580A0.37
SKCMchr1945352298Missense_MutationNAL701F0.41
SKCMchr1945364904SilentNAN176N0.42
SKCMchr1945364279SilentnovelD257D0.07
SKCMchr1945361654Intronnovel0.51
SKCMchr1945352572Silentrs775910108A660A0.13
SKCMchr1945361528Silentrs754028681A411A0.43
SKCMchr1945354736Nonsense_MutationNAY553*0.17
SKCMchr19453514063'UTRnovel0.55
SKCMchr1945357342SilentNAK469K0.32
SKCMchr1945364862SilentnovelC190C0.17
STADchr1945364085Missense_MutationnovelE284K0.36
STADchr1945352757Missense_Mutationrs144511865R631C0.11
STADchr1945355677Missense_MutationNAR511W0.09
STADchr1945364918Missense_Mutationrs559154781A172T0.31
STADchr1945352782Silentrs16979773G622G0.18
STADchr1945352647Splice_Regionrs145835916A635A0.42
STADchr1945365052Missense_Mutationrs201294521R156Q0.65ResIII
STADchr1945361617Missense_MutationNAL382M0.21
STADchr1945357533Missense_Mutationrs768677952A440T0.17
STADchr1945364057Missense_MutationNAR293Q0.2
STADchr1945368627Splice_Regionrs7677790020.63
STADchr1945364326Missense_MutationNAV242I0.23
STADchr1945353262Missense_Mutationrs751318902A580T0.42
STADchr1945352628Frame_Shift_DelnovelD642Tfs*670.48
STADchr19453514463'UTRnovel0.23
STADchr1945364091Missense_Mutationrs375415853R282W0.33
THCAchr1945361732Intronnovel0.15
THYMchr1945361790Intronnovel0.21
UCECchr19453513803'UTRrs7507283450.46
UCECchr1945352590Silentrs762985501F654F0.35
UCECchr1945354842Missense_MutationnovelR518Q0.1
UCECchr1945354766SilentnovelQ543Q0.08
UCECchr1945358758Intronnovel0.38
UCECchr1945357868Intronnovel0.07
UCECchr1945357510SilentNAV447V0.11
UCECchr1945363832SilentnovelR343R0.67
UCECchr1945358685Intronnovel0.48
UCECchr1945358781Intronnovel0.43
UCECchr19453514933'UTRrs1499431750.55
UCECchr1945357590Intronnovel0.41
UCECchr1945368681Silentrs371383715P103P0.55
UCECchr1945352782Silentrs16979773G622G0.5
UCECchr1945357789Intronnovel0.6
UCECchr1945361529Missense_MutationnovelA411V0.34
UCECchr1945352292Missense_MutationnovelD703Y0.44
UCECchr19453515613'UTRrs5656500290.44
UCECchr1945364879Missense_Mutationrs139884931R185W0.38
UCECchr1945363756Missense_MutationnovelR369C0.71
UCECchr1945352322SilentnovelL693L0.31
UCECchr1945358853Intronnovel0.37
UCECchr1945361766Intronnovel0.44
UCECchr1945353089Missense_MutationnovelD609N0.2
UCECchr1945357320Missense_MutationnovelT477A0.19
UCECchr1945352570Missense_MutationnovelA661V0.29
UCECchr1945355675SilentnovelR511R0.44
UCECchr1945365117SilentnovelC134C0.33
UCECchr1945368731Missense_MutationnovelL87I0.19ResIII
UCECchr1945369118SilentNAG45G0.44
UCECchr1945352529Missense_MutationNAG675S0.05
UCECchr1945357303SilentnovelT482T0.24
UCECchr1945354727Splice_RegionNA0.28
UCECchr19453515163'UTRnovel0.43
UCECchr1945352235Missense_Mutationrs121913026R722W0.19
UCECchr1945352630Missense_Mutationrs747476170R641Q0.43
UCECchr1945357543Missense_MutationnovelS436R0.16
UCECchr1945369116Missense_MutationnovelT46I0.24ResIII
UCECchr1945352604Missense_MutationnovelD650N0.31
UCECchr1945363884Missense_MutationNAA326V0.4
UCECchr1945364251Nonsense_MutationnovelQ267*0.39
UCECchr1945352352Missense_Mutationrs41556519R683W0.37
UCECchr1945361566Missense_MutationnovelL399I0.16
UVMchr1945352647Splice_Regionrs145835916A635A0.22

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
CESCDEL0.07120.027508
KIRPDEL0.04170.054726
READDEL0.06670.23023
STADDEL0.11560.1243
TGCTDEL0.28670.0046229
UCSDEL0.19640.12448

Survival Analysis
CancerP-value Q-value
SARC0.00011

Kaplan-Meier Survival Analysis

MESO0.0058

Kaplan-Meier Survival Analysis

ACC0.0091

Kaplan-Meier Survival Analysis

UCS0.0019

Kaplan-Meier Survival Analysis

HNSC0.049

Kaplan-Meier Survival Analysis

SKCM0.0038

Kaplan-Meier Survival Analysis

LUSC0.0091

Kaplan-Meier Survival Analysis

KIRP0.00086

Kaplan-Meier Survival Analysis

PAAD0.00059

Kaplan-Meier Survival Analysis

LAML0.008

Kaplan-Meier Survival Analysis

UCEC0.011

Kaplan-Meier Survival Analysis

LIHC0.00012

Kaplan-Meier Survival Analysis

DLBC0.044

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBDs
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000104884 (Gene tree)
Gene ID
2068
Gene Symbol
ERCC2
Alias
MAG|EM9|MGC102762|MGC126218|MGC126219|TFIIH|XPD
Full Name
ERCC excision repair 2, TFIIH core complex helicase subunit
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Minus strand
Length
21,082 bases
Position
chr19:45,349,837-45,370,918
Accession
3434
RBP type
canonical RBP
Summary
The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
RNA binding domains(RBDs)
Protein IDDomain Pfam IDE-value Domain number Total number
ENSP00000375808ResIIIPF04851.152.1e-0711

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
19818408Improved methods for expression and purification of Saccharomyces cerevisiae TFIIF and TFIIH; identification of a functional Escherichia coli promoter and internal translation initiation within the N-terminal coding region of the TFIIF TFG1 subunit.Protein Expr Purif2010 AprYang Cdoi: 10.1016/j.pep.2009.09.021
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000586131ERCC2-2061015-ENSP00000464887292 (aa)-K7EIT8
ENST00000587376ERCC2-210823-ENSP00000465593202 (aa)-K7EKF3
ENST00000586737ERCC2-208481--- (aa)--
ENST00000391945ERCC2-2044122XM_011526611ENSP00000375809760 (aa)XP_011524913P18074
ENST00000391944ERCC2-2032334-ENSP00000375808682 (aa)-E7EVE9
ENST00000588652ERCC2-2112405--- (aa)--
ENST00000391941ERCC2-2012871-ENSP00000375805706 (aa)-A8MX75
ENST00000586856ERCC2-209690-ENSP00000466998109 (aa)-K7ENL1
ENST00000391942ERCC2-2021488--- (aa)--
ENST00000646507ERCC2-2133119--- (aa)--
ENST00000485403ERCC2-2051538-ENSP00000431229405 (aa)-P18074
ENST00000591309ERCC2-212557-ENSP00000465207127 (aa)-B4E0F6
ENST00000586441ERCC2-207682--- (aa)--
Gene Model
Click here to download ENSG00000104884's gene model file
Pathways
Pathway IDPathway NameSource
hsa03022Basal transcription factorsKEGG
hsa03420Nucleotide excision repairKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000104884Lung Neoplasms9E-723108145
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000104884rs131811945351661CLung Cancer (DNA repair capacity)23108145EFO_0001071
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000104884's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000104884ERCC29784.163ENSAPOG00000000375ercc29984.163Acanthochromis_polyacanthus
ENSG00000104884ERCC29984.389ENSACIG00000008002ercc29984.389Amphilophus_citrinellus
ENSG00000104884ERCC29782.733ENSAOCG00000016153ercc29982.733Amphiprion_ocellaris
ENSG00000104884ERCC29782.733ENSAPEG00000016712ercc29982.733Amphiprion_percula
ENSG00000104884ERCC29984.141ENSATEG00000005268ercc29984.141Anabas_testudineus
ENSG00000104884ERCC210099.413ENSANAG00000022694ERCC210099.413Aotus_nancymaae
ENSG00000104884ERCC29784.766ENSACLG00000017573ercc29984.766Astatotilapia_calliptera
ENSG00000104884ERCC29784.639ENSAMXG00000009052ercc29984.639Astyanax_mexicanus
ENSG00000104884ERCC210099.413ENSCJAG00000012716ERCC210099.413Callithrix_jacchus
ENSG00000104884ERCC29037.931ENSCJAG00000001292BRIP17837.931Callithrix_jacchus
ENSG00000104884ERCC29999.005ENSCAFG00020011390ERCC29998.971Canis_lupus_dingo
ENSG00000104884ERCC28734.677ENSCAFG00020001919-5034.677Canis_lupus_dingo
ENSG00000104884ERCC29290.722ENSTSYG00000026723ERCC29989.899Carlito_syrichta
ENSG00000104884ERCC29999.502ENSCCAG00000019831ERCC29999.160Cebus_capucinus
ENSG00000104884ERCC29139.655ENSCATG00000041725BRIP15639.655Cercocebus_atys
ENSG00000104884ERCC29139.655ENSCSAG00000005928BRIP15539.655Chlorocebus_sabaeus
ENSG00000104884ERCC27130.605ENSCSAVG00000002028-7730.605Ciona_savignyi
ENSG00000104884ERCC29139.655ENSCANG00000032026BRIP15539.655Colobus_angolensis_palliatus
ENSG00000104884ERCC210099.853ENSCANG00000040683ERCC210099.853Colobus_angolensis_palliatus
ENSG00000104884ERCC29779.970ENSCSEG00000006041ercc29981.731Cynoglossus_semilaevis
ENSG00000104884ERCC29999.005ENSEASG00005013856ERCC29997.479Equus_asinus_asinus
ENSG00000104884ERCC29883.609ENSELUG00000018055ercc210083.654Esox_lucius
ENSG00000104884ERCC210098.827ENSFCAG00000002679ERCC210098.827Felis_catus
ENSG00000104884ERCC29984.118ENSFHEG00000000072ercc29984.118Fundulus_heteroclitus
ENSG00000104884ERCC29887.097ENSGAGG00000009493ERCC210084.050Gopherus_agassizii
ENSG00000104884ERCC210099.853ENSGGOG00000015842ERCC210099.853Gorilla_gorilla
ENSG00000104884ERCC29783.958ENSHBUG00000002187ercc29983.958Haplochromis_burtoni
ENSG00000104884ERCC29983.113ENSLBEG00000010573ercc29283.235Labrus_bergylta
ENSG00000104884ERCC210099.853ENSMFAG00000037898ERCC210099.853Macaca_fascicularis
ENSG00000104884ERCC29139.655ENSMFAG00000044136BRIP15539.655Macaca_fascicularis
ENSG00000104884ERCC210099.853ENSMMUG00000014419ERCC210099.853Macaca_mulatta
ENSG00000104884ERCC29139.655ENSMMUG00000009027BRIP15639.655Macaca_mulatta
ENSG00000104884ERCC210099.853ENSMNEG00000042641ERCC210099.853Macaca_nemestrina
ENSG00000104884ERCC29139.655ENSMNEG00000040728BRIP16939.655Macaca_nemestrina
ENSG00000104884ERCC29139.655ENSMLEG00000037601BRIP15539.655Mandrillus_leucophaeus
ENSG00000104884ERCC29999.853ENSMLEG00000043492ERCC29999.853Mandrillus_leucophaeus
ENSG00000104884ERCC29984.242ENSMAMG00000016724ercc29984.242Mastacembelus_armatus
ENSG00000104884ERCC29784.789ENSMZEG00005024441ercc29984.789Maylandia_zebra
ENSG00000104884ERCC210098.827ENSMICG00000000635ERCC210098.827Microcebus_murinus
ENSG00000104884ERCC29981.591ENSMMOG00000005162ercc29984.874Mola_mola
ENSG00000104884ERCC29983.211ENSMALG00000005990ercc29983.211Monopterus_albus
ENSG00000104884ERCC29998.010MGP_CAROLIEiJ_G0029287Ercc29997.944Mus_caroli
ENSG00000104884ERCC29998.010ENSMUSG00000030400Ercc29997.944Mus_musculus
ENSG00000104884ERCC29998.010MGP_PahariEiJ_G0021147Ercc29997.944Mus_pahari
ENSG00000104884ERCC29998.010MGP_SPRETEiJ_G0030371Ercc29997.797Mus_spretus
ENSG00000104884ERCC210099.853ENSPPAG00000044005ERCC210099.853Pan_paniscus
ENSG00000104884ERCC29894.355ENSPPRG00000000507ERCC29997.479Panthera_pardus
ENSG00000104884ERCC210099.853ENSPTRG00000011149ERCC210099.853Pan_troglodytes
ENSG00000104884ERCC29999.853ENSPANG00000032195ERCC29999.853Papio_anubis
ENSG00000104884ERCC29139.655ENSPANG00000022169BRIP15539.655Papio_anubis
ENSG00000104884ERCC29979.589ENSPKIG00000006883ercc29881.818Paramormyrops_kingsleyae
ENSG00000104884ERCC29783.584ENSPMGG00000000223ercc29985.577Periophthalmus_magnuspinnatus
ENSG00000104884ERCC29984.141ENSPLAG00000002626ercc29984.265Poecilia_latipinna
ENSG00000104884ERCC29984.141ENSPMEG00000002858ercc29984.265Poecilia_mexicana
ENSG00000104884ERCC29980.597ENSPREG00000019280ercc29981.667Poecilia_reticulata
ENSG00000104884ERCC29784.084ENSPNYG00000022007ercc29984.084Pundamilia_nyererei
ENSG00000104884ERCC29883.910ENSPNAG00000010434ercc210085.577Pygocentrus_nattereri
ENSG00000104884ERCC29139.655ENSRBIG00000024082BRIP15639.655Rhinopithecus_bieti
ENSG00000104884ERCC210099.853ENSRROG00000040423ERCC210099.853Rhinopithecus_roxellana
ENSG00000104884ERCC29999.502ENSSBOG00000030257ERCC29999.412Saimiri_boliviensis_boliviensis
ENSG00000104884ERCC29978.325ENSSMAG00000019720ercc29982.524Scophthalmus_maximus
ENSG00000104884ERCC29783.584ENSSDUG00000002397ercc29983.654Seriola_dumerili
ENSG00000104884ERCC29783.434ENSSLDG00000020353ercc29983.654Seriola_lalandi_dorsalis
ENSG00000104884ERCC29984.389ENSSPAG00000002074ercc29984.874Stegastes_partitus
ENSG00000104884ERCC29983.947ENSTRUG00000007303ercc29983.947Takifugu_rubripes
ENSG00000104884ERCC29998.507ENSUAMG00000019562ERCC29998.382Ursus_americanus
ENSG00000104884ERCC29981.095ENSXMAG00000003922ercc29981.667Xiphophorus_maculatus
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000019regulation of mitotic recombination21873635.IBAProcess
GO:0000439transcription factor TFIIH core complex-IEAComponent
GO:0000717nucleotide-excision repair, DNA duplex unwinding21873635.IBAProcess
GO:0000717nucleotide-excision repair, DNA duplex unwinding-TASProcess
GO:0001666response to hypoxia-IEAProcess
GO:0001701in utero embryonic development-IEAProcess
GO:0003684damaged DNA binding21873635.IBAFunction
GO:0004003ATP-dependent DNA helicase activity21873635.IBAFunction
GO:0004672protein kinase activity9852112.IDAFunction
GO:0005515protein binding7663514.8652557.11445587.16669699.20797633.23585563.23891004.25416956.27193682.28178521.IPIFunction
GO:0005524ATP binding-IEAFunction
GO:0005634nucleus21873635.IBAComponent
GO:0005634nucleus20797633.23585563.IDAComponent
GO:0005654nucleoplasm-IDAComponent
GO:0005654nucleoplasm-TASComponent
GO:0005669transcription factor TFIID complex27193682.IDAComponent
GO:0005675transcription factor TFIIH holo complex9852112.IDAComponent
GO:0005675transcription factor TFIIH holo complex7663514.TASComponent
GO:0005737cytoplasm20797633.23585563.IDAComponent
GO:0005819spindle20797633.IDAComponent
GO:0005829cytosol-IDAComponent
GO:0006283transcription-coupled nucleotide-excision repair8663148.IDAProcess
GO:0006283transcription-coupled nucleotide-excision repair-TASProcess
GO:0006289nucleotide-excision repair2835663.IGIProcess
GO:0006289nucleotide-excision repair2184031.NASProcess
GO:0006293nucleotide-excision repair, preincision complex stabilization-TASProcess
GO:0006294nucleotide-excision repair, preincision complex assembly-TASProcess
GO:0006295nucleotide-excision repair, DNA incision, 3'-to lesion-TASProcess
GO:0006296nucleotide-excision repair, DNA incision, 5'-to lesion-TASProcess
GO:0006361transcription initiation from RNA polymerase I promoter-TASProcess
GO:0006362transcription elongation from RNA polymerase I promoter-TASProcess
GO:0006363termination of RNA polymerase I transcription-TASProcess
GO:0006366transcription by RNA polymerase II21873635.IBAProcess
GO:0006366transcription by RNA polymerase II9852112.IDAProcess
GO:0006366transcription by RNA polymerase II8663148.TASProcess
GO:0006367transcription initiation from RNA polymerase II promoter-TASProcess
GO:0006368transcription elongation from RNA polymerase II promoter-TASProcess
GO:00063707-methylguanosine mRNA capping-TASProcess
GO:0006468protein phosphorylation-IEAProcess
GO:0006915apoptotic process8675009.IMPProcess
GO:0006979response to oxidative stress21873635.IBAProcess
GO:0006979response to oxidative stress17614221.IMPProcess
GO:0007059chromosome segregation20797633.IMPProcess
GO:0007568aging-IEAProcess
GO:0008022protein C-terminus binding10801852.IPIFunction
GO:0008094DNA-dependent ATPase activity9852112.IDAFunction
GO:0008094DNA-dependent ATPase activity8663148.TASFunction
GO:0008283cell proliferation-IEAProcess
GO:0008353RNA polymerase II CTD heptapeptide repeat kinase activity21873635.IBAFunction
GO:0008353RNA polymerase II CTD heptapeptide repeat kinase activity9852112.IDAFunction
GO:0009411response to UV21873635.IBAProcess
GO:0009650UV protection2835663.IGIProcess
GO:0009791post-embryonic development-IEAProcess
GO:0016032viral process-IEAProcess
GO:0021510spinal cord development-IEAProcess
GO:0030198extracellular matrix organization-IEAProcess
GO:0030282bone mineralization-IEAProcess
GO:0030674protein binding, bridging11445587.IPIFunction
GO:0032289central nervous system myelin formation-IEAProcess
GO:0033683nucleotide-excision repair, DNA incision21873635.IBAProcess
GO:0033683nucleotide-excision repair, DNA incision8692841.IMPProcess
GO:0033683nucleotide-excision repair, DNA incision-TASProcess
GO:0035264multicellular organism growth-IEAProcess
GO:0035315hair cell differentiation11335038.IMPProcess
GO:0040016embryonic cleavage-IEAProcess
GO:00431395'-3' DNA helicase activity8663148.11445587.IDAFunction
GO:0043141ATP-dependent 5'-3' DNA helicase activity21873635.IBAFunction
GO:0043249erythrocyte maturation-IEAProcess
GO:0043388positive regulation of DNA binding-IEAProcess
GO:0045893positive regulation of transcription, DNA-templated21873635.IBAProcess
GO:0045893positive regulation of transcription, DNA-templated8692842.IDAProcess
GO:0045944positive regulation of transcription by RNA polymerase II8692841.IDAProcess
GO:0045951positive regulation of mitotic recombination21873635.IBAProcess
GO:0046872metal ion binding-IEAFunction
GO:0047485protein N-terminus binding8652557.IPIFunction
GO:0048568embryonic organ development-IEAProcess
GO:0048820hair follicle maturation-IEAProcess
GO:00515394 iron, 4 sulfur cluster binding-IEAFunction
GO:0060218hematopoietic stem cell differentiation-IEAProcess
GO:0070516CAK-ERCC2 complex8692842.11445587.IDAComponent
GO:0070911global genome nucleotide-excision repair-TASProcess
GO:0071817MMXD complex20797633.IDAComponent
GO:1901990regulation of mitotic cell cycle phase transition17088560.IMPProcess
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