EuRBPDB

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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
15069545Comparative analysis of thymidine phosphorylase and dihydropyrimidine dehydrogenase expression in gastric and colorectal cancers.Oncol Rep2004 MayHotta T-
21111509Thymidylate synthase and dihydropyrimidine dehydrogenase expression levels are associated with response to S-1 plus carboplatin in advanced non-small cell lung cancer.Lung Cancer2011 JulTakeda Mdoi: 10.1016/j.lungcan.2010.10.022
16132996Thymidine phosphorylase, dihydropyrimidine dehydrogenase and thymidylate synthase mRNA expression in primary colorectal tumors-correlation to tumor histopathology and clinical follow-up.Int J Colorectal Dis2006 AprLassmann S-
18004243Dihydropyrimidine dehydrogenase activity correlates with fluorouracil sensitivity in breast cancer.Exp Oncol2007 SepYu Z-
27127154Increase in Gene Expression of TYMP, DPYD and HIF1A Are Associated with Response to Preoperative Chemoradiotherapy Including S-1 or UFT for Rectal Cancer.Anticancer Res2016 MaySadahiro S-
19295264[Clinical significance of intratumoral TS levels and DPD activity in breast cancer].Gan To Kagaku Ryoho2009 MarMiyashita M-
19104657Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients.PLoS One2008Gross Edoi: 10.1371/journal.pone.0004003
17699798Regulation of genes of the circadian clock in human colon cancer: reduced period-1 and dihydropyrimidine dehydrogenase transcription correlates in high-grade tumors.Cancer Res2007 Aug 15Krugluger W-
22143355Role of thymidylate synthase and dihydropyrimidine dehydrogenase mRNA in intrahepatic cholangiocarcinoma.Surg Today2012 JanMorine Ydoi: 10.1007/s00595-011-0054-z
19020767Thymidylate synthase, dihydropyrimidine dehydrogenase, orotate phosphoribosyltransferase mRNA and protein expression levels in solid tumors in large scale population analysis.Int J Mol Med2008 DecFukui Y-
14519634Thymidylate synthase and dihydropyrimidine dehydrogenase mRNA expression levels: predictors for survival in colorectal cancer patients receiving adjuvant 5-fluorouracil.Clin Cancer Res2003 Sep 15Kornmann M-
20837458Low thymidylate synthase, thymidine phosphorylase, and dihydropyrimidine dehydrogenase mRNA expression correlate with prolonged survival in resected non-small-cell lung cancer.Clin Lung Cancer2010 Sep 1Grimminger PPdoi: 10.3816/CLC.2010.n.041.
22641663Expression of dihydropyrimidine dehydrogenase, orotate phosphoribosyl transferase and thymidylate synthase in patients with primary colorectal cancer, and associations with site of first metastasis.Anticancer Res2012 JunAkagi Y-
17417073Thymidylate synthase (TYMS) and dihydropyrimidine dehydrogenase (DPYD) polymorphisms in the Korean population for prediction of 5-fluorouracil-associated toxicity.Ther Drug Monit2007 AprCho HJ-
22006578TS and DPD mRNA levels on formalin-fixed paraffin-embedded specimens as predictors for distant recurrence of rectal cancer treated with preoperative chemoradiotherapy.J Surg Oncol2012 MayTanaka Kdoi: 10.1002/jso.22123
27461651DPYD*2A/*5A/*9A and UGT1A1*6/*28 polymorphisms in Chinese colorectal cancer patients.J Cancer Res Ther2016 Apr-JunLi GYdoi: 10.4103/0973-1482.148685.
25112781Impact of the expression of thymidylate synthase and dihydropyrimidine dehydrogenase genes on survival in stage II/III gastric cancer.Gastric Cancer2015 JulSasako Mdoi: 10.1007/s10120-014-0413-8
14654904DPD activity and immunohistochemical DPD expression in human breast cancer.Oncol Rep2004 JanHoriguchi J-
16786143The relationship between survival and the expression of dihydropyrimidine dehydrogenase in patients with colorectal cancer.Oncol Rep2006 JulHotta T-
25873402MicroRNA-494 sensitizes colon cancer cells to fluorouracil through regulation of DPYD.IUBMB Life2015 MarChai Jdoi: 10.1002/iub.1361
20809970Promoter methylation and large intragenic rearrangements of DPYD are not implicated in severe toxicity to 5-fluorouracil-based chemotherapy in gastrointestinal cancer patients.BMC Cancer2010 Sep 1Savva-Bordalo Jdoi: 10.1186/1471-2407-10-470.
26372896Changes in expression levels of ERCC1, DPYD, and VEGFA mRNA after first-line chemotherapy of metastatic colorectal cancer: results of a multicenter study.Oncotarget2015 Oct 20Baba Hdoi: 10.18632/oncotarget.5227.
17612628Suppression of DPYD expression in RKO cells via DNA methylation in the regulatory region of the DPYD promoter: a potentially important epigenetic mechanism regulating DPYD expression.Biochem Cell Biol2007 JunZhang X-
16361556Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients.Clin Cancer Res2005 Dec 15Ezzeldin HH-
20819423Variants in the dihydropyrimidine dehydrogenase, methylenetetrahydrofolate reductase and thymidylate synthase genes predict early toxicity of 5-fluorouracil in colorectal cancer patients.J Int Med Res2010 May-JunKristensen MH-
14562021Both gene expression for orotate phosphoribosyltransferase and its ratio to dihydropyrimidine dehydrogenase influence outcome following fluoropyrimidine-based chemotherapy for metastatic colorectal cancer.Br J Cancer2003 Oct 20Ichikawa W-
20714877Relationship between the expression of thymidylate synthase, thymidine phosphorylase and dihydropyrimidine dehydrogenase and survival in epithelial ovarian cancer.J Huazhong Univ Sci Technolog Med Sci2010 AugWang Cdoi: 10.1007/s11596-010-0456-y
26281864Correlation between DPYD gene variation and KRAS wild type status in colorectal cancer.J Clin Pathol2016 MarKleist Bdoi: 10.1136/jclinpath-2015-202903
15999119Expression of thymidylate synthase, dihydropyrimidine dehydrogenase, thymidine phosphorylase, and orotate phosphoribosyl transferase in prostate cancer.Prostate Cancer Prostatic Dis2005Miyoshi Y-
22490566Polymorphisms of dihydropyrimidine dehydrogenase gene and clinical outcomes of gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy in Chinese population.Chin Med J (Engl)2012 MarZhang XP-
21612699[Expression of dihydropyrimidine dehydrogenase negatively correlated with the prognosis of pancreatic ductal adenocarcinoma].Zhonghua Wai Ke Za Zhi2011 Apr 1Fang Y-
11992400Thymidine kinase in epithelial ovarian cancer: relationship with the other pyrimidine pathway enzymes.Int J Cancer2002 May 20Fujiwaki R-
18619742The dihydrouracil/uracil ratio in plasma, clinical and genetic analysis for screening of dihydropyrimidine dehydrogenase deficiency in colorectal cancer patients treated with 5-fluorouracil.Pathol Biol (Paris)2009 SepBen Fredj Rdoi: 10.1016/j.patbio.2008.05.001
17203168Polymorphisms in the thymidylate synthase and dihydropyrimidine dehydrogenase genes predict response and toxicity to capecitabine-raltitrexed in colorectal cancer.Oncol Rep2007 FebSalgado J-
25066213Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk.Mol Nutr Food Res2014 OctKelemen LEdoi: 10.1002/mnfr.201400068
16820886Deficient expression of the DPD gene is caused by epigenetic modification in biliary tract cancer cells, and induces high sensitivity to 5-FU treatment.Int J Oncol2006 AugSato K-
17582310[Pro or con the phenotyping/genotyping of patients treated by 5-Fluorouracil to prevent adverse drug reactions?].Therapie2007 Mar-AprCoriat R-
12576451Combination of dihydropyrimidine dehydrogenase and thymidylate synthase gene expressions in primary tumors as predictive parameters for the efficacy of fluoropyrimidine-based chemotherapy for metastatic colorectal cancer.Clin Cancer Res2003 FebIchikawa W-
22593457Expression levels of thymidylate synthase, dihydropyrimidine dehydrogenase, and thymidine phosphorylase in patients with colorectal cancer.Anticancer Res2012 MayGoto T-
23401991[Review of methods for determination of dihydropyrimidine dehydrogenase and possible application in screening previous chemotheraphy with 5-fluorouracil].Przegl Lek2012Ostapowicz A-
18347391[Significance of pyrimidine nucleoside phosphorylase and dihydropyrimidine dehydrogenase levels to predict postoperative recurrence in primary breast cancer].Gan To Kagaku Ryoho2008 MarTamesa M-
19724871Microdissection is essential for gene expression analysis of irradiated rectal cancer tissues.Oncol Rep2009 OctInoue Y-
11895907Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype.Clin Cancer Res2002 MarJohnson MR-
20647710[Correlation between clinicopathological factors and enzymatic activity of orotate phosphoribosyl transferase (OPRT), dihydropyrimidine dehydrogenase (DPD) in esophageal cancer].Gan To Kagaku Ryoho2010 JulTakemura M-
12851836Clinical implications of dihydropyrimidine dehydrogenase (DPD) activity in 5-FU-based chemotherapy: mutations in the DPD gene, and DPD inhibitory fluoropyrimidines.Int J Clin Oncol2003 JunOmura K-
15993511The role of thymidylate synthase and dihydropyrimidine dehydrogenase in resistance to 5-fluorouracil in human lung cancer cells.Lung Cancer2005 SepOguri T-
28255193The Impact of the Expression Level of Intratumoral Dihydropyrimidine Dehydrogenase on Chemotherapy Sensitivity and Survival of Patients in Gastric Cancer: A Meta-Analysis.Dis Markers2017Zhang Cdoi: 10.1155/2017/9202676
19473056Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy.Neoplasma2009Kleibl Z-
27741011Molecular Markers for the Prediction of Minor Response to Neoadjuvant Chemoradiation in Esophageal Cancer: Results of the Prospective Cologne Esophageal Response Prediction (CERP) Study.Ann Surg2016 NovBollschweiler E-
27181275Evaluation of clinical implementation of prospective DPYD genotyping in 5-fluorouracil- or capecitabine-treated patients.Pharmacogenomics2016 MayLunenburg CAdoi: 10.2217/pgs-2016-0013
28476815Combined Analyses of hENT1, TS, and DPD Predict Outcomes of Borderline-resectable Pancreatic Cancer.Anticancer Res2017 MayYabushita Y-
27268079Epidermal growth factor signals regulate dihydropyrimidine dehydrogenase expression in EGFR-mutated non-small-cell lung cancer.BMC Cancer2016 Jun 6Tominaga Tdoi: 10.1186/s12885-016-2392-0.
29065426Dihydropyrimidine dehydrogenase pharmacogenetics for predicting fluoropyrimidine-related toxicity in the randomised, phase III adjuvant TOSCA trial in high-risk colon cancer patients.Br J Cancer2017 Oct 24Ruzzo Adoi: 10.1038/bjc.2017.289
28929491Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.Int J Cancer2018 Jan 15Henricks LMdoi: 10.1002/ijc.31065
29372689DPYD genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from Slovakia.Gen Physiol Biophys2017 DecMatakova Tdoi: 10.4149/gpb_2017046.
28024938Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.Biochim Biophys Acta Mol Basis Dis2017 Marvan Kuilenburg ABdoi: 10.1016/j.bbadis.2016.12.010
30114658Pharmacogenetic analyses of 2183 patients with advanced colorectal cancer; potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy.Eur J Cancer2018 OctMadi Adoi: 10.1016/j.ejca.2018.07.009

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr1979209415'UTRnovel0.26
ACCchr197098622Missense_MutationnovelS878N0.48
ACCchr197306235Frame_Shift_DelNAF707Lfs*40.86Dus
BLCAchr197515738Missense_MutationnovelF576L0.05
BLCAchr197193209Missense_Mutationrs200687447E828K0.17
BLCAchr197595120SilentnovelQ299Q0.12
BLCAchr197721592Missense_MutationNAD134V0.17
BLCAchr197450201Missense_MutationnovelP588L0.08
BLCAchr197306220SilentnovelP712P0.19
BLCAchr1970789493'UTRnovel0.23
BLCAchr197883312Missense_MutationnovelK34N0.38
BLCAchr197593379Missense_Mutationrs201018345A323T0.08
BLCAchr197450133Missense_MutationNAE611K0.19
BLCAchr197382450SilentnovelA639A0.5
BLCAchr197721626Missense_MutationNAG123C0.39
BLCAchr197595098Missense_MutationnovelK307E0.11
BLCAchr197595135Missense_MutationnovelF294L0.24
BLCAchr197515904Missense_MutationNAL521Q0.14
BLCAchr197573950SilentNAE383E0.38
BLCAchr197573937Missense_MutationnovelL388V0.21
BLCAchr197740410SilentnovelI101I0.37
BLCAchr197373623Nonsense_MutationNAE666*0.31Dus
BLCAchr197549698SilentnovelP462P0.21
BRCAchr197883318SilentnovelS32S0.09
BRCAchr197593356SilentNAS330S0.33
BRCAchr197720802Intronnovel0.15
BRCAchr197595046Splice_SitenovelX314_splice0.19
BRCAchr197305342Nonsense_MutationNAS739*0.3
BRCAchr197079057Silentrs757509506V999V0.1
BRCAchr197305353SilentnovelT735T0.06
BRCAchr197515870SilentnovelD532D0.07
CESCchr197515897SilentnovelL523L0.19
CESCchr197679107Missense_MutationnovelF280V0.32
CESCchr197720873Intronnovel0.43
CESCchr197079020Nonsense_Mutationrs761584058E1012*0.29
CESCchr197082389Missense_Mutationrs763862486E950K0.32
CESCchr197082414Frame_Shift_DelnovelE942Sfs*60.11
CESCchr197679118Missense_MutationnovelY276C0.44
CESCchr197193111SilentNAQ860Q0.12
CESCchr197573952Missense_MutationnovelE383K0.4
CESCchr197450142Missense_MutationnovelL608V0.61
CESCchr197720815Intronnovel0.22
CESCchr197699506SilentnovelS175S0.5
CESCchr197720855Intronnovel0.28
COADchr197234900SilentNAS798S0.15
COADchr197306235Frame_Shift_DelNAF707Lfs*40.27Dus
COADchr197679126Missense_MutationNAE273D0.12
COADchr197573950SilentNAE383E0.31
COADchr197098520Missense_MutationnovelF912C0.07
COADchr197193231Missense_MutationnovelQ820H0.28
COADchr197699457Missense_MutationnovelL192F0.3
COADchr197082458Missense_MutationnovelK927E0.25
COADchr197593379Missense_Mutationrs201018345A323T0.06
COADchr197593336Missense_MutationNAV337A0.29
COADchr197515899Frame_Shift_DelnovelL523Sfs*130.32
COADchr197573918Missense_MutationnovelR394Q0.24
COADchr197306235Frame_Shift_DelNAF707Lfs*40.34Dus
COADchr197079145Missense_MutationNAA970D0.23
COADchr197306282Missense_Mutationrs538703919R692W0.29Dus
COADchr197721543SilentnovelI150I0.14
COADchr197079055Missense_MutationnovelD1000G0.46
COADchr197306195Missense_Mutationrs145548112A721T0.39Dus
COADchr197721603SilentNAC130C0.2
COADchr197082473Splice_RegionNA0.19
COADchr197079031Missense_MutationNAT1008K0.1
COADchr197720701Intronnovel0.3
COADchr197699431Missense_MutationNAI200M0.11
COADchr197720896IntronNA0.3
COADchr197721569Missense_Mutationrs763623595L142V0.34
COADchr197305373Missense_MutationNAA729T0.34Dus
COADchr197720780Intronnovel0.07
COADchr197193169Missense_MutationNAK841I0.26
COADchr197450071Missense_MutationNAD631E0.26
COADchr197549703Missense_MutationNAL461I0.25
COADchr197883365Missense_MutationNAA17T0.36
COADchr1970789653'UTRnovel0.32
COADchr197828158Missense_MutationNAK63N0.11
COADchr197515906Missense_MutationnovelE520D0.38
COADchr197549637Missense_Mutationrs141439344V483I0.22
COADchr197573760Missense_MutationNAV447L0.32
COADchr197079073Missense_MutationNAS994N0.13
COADchr197679174Silentrs754745863C257C0.37
DLBCchr197721613Missense_MutationnovelG127E0.33
DLBCchr197720687Intronnovel0.25
DLBCchr197082448Missense_Mutationrs568169006Q930R0.4
ESCAchr197193067Splice_SitenovelX874_splice0.11
ESCAchr197595123Silentrs61758443T298T0.14
ESCAchr197306291Missense_MutationnovelE689K0.21Dus
GBMchr197382451Missense_MutationnovelA639V0.3
GBMchr1979209855'UTRnovel0.85
GBMchr197382422Missense_MutationNAD649Y0.33Dus
HNSCchr197305285Missense_MutationnovelK758R0.58
HNSCchr197515855Missense_MutationnovelM537I0.09
HNSCchr197691764Missense_Mutationrs750687600D239N0.24
HNSCchr197306222Missense_MutationnovelP712A0.18Dus
HNSCchr197193243SilentnovelC816C0.34
HNSCchr197450170SilentNAP598P0.35
HNSCchr197573789Missense_MutationnovelA437V0.14
HNSCchr197595156Missense_MutationnovelE287D0.11
HNSCchr197740468Missense_MutationnovelC82F0.18
HNSCchr197699398SilentNAY211Y0.65
HNSCchr197098492SilentnovelI921I0.24
HNSCchr197573766Missense_MutationnovelP445S0.24
HNSCchr197234926Missense_MutationnovelI790F0.58
HNSCchr197306260Missense_MutationnovelR699M0.21Dus
HNSCchr197549673Missense_MutationnovelT471S0.32
HNSCchr197740426Missense_Mutationrs771573678D96V0.21
HNSCchr197593289Missense_Mutationrs143154602R353C0.25
HNSCchr197305318Missense_MutationnovelD747V0.26
HNSCchr197306270Missense_MutationnovelR696G0.26Dus
HNSCchr197691744SilentnovelI245I0.11
HNSCchr197573778Missense_MutationnovelV441I0.28
KIRCchr197098564SilentNAL897L0.24
KIRCchr197883312Missense_MutationNAK34N0.25
KIRPchr197720861Intronrs1871849750.39
KIRPchr197593253Nonsense_MutationNAK365*0.37
LGGchr1970788843'UTRnovel0.22
LGGchr197699510Missense_MutationnovelP174H0.22
LGGchr197720893Intronnovel0.11
LGGchr197721658Missense_MutationnovelA112D0.3
LGGchr197082393Missense_MutationnovelI948M0.05
LIHCchr197699540Missense_MutationnovelK164T0.26
LIHCchr197699442Missense_MutationNAP197S0.31
LIHCchr197720690Intronnovel0.27
LIHCchr197549637Missense_Mutationrs141439344V483I0.29
LIHCchr1970788743'UTRnovel0.2
LIHCchr197515766Missense_MutationNAG567V0.25
LIHCchr197549711Missense_MutationNAR458K0.22
LIHCchr197098497Missense_MutationNAT920A0.25
LUADchr197549715Missense_MutationNAN457Y0.19
LUADchr197595075SilentNAA314A0.16
LUADchr197515892Missense_MutationNAY525C0.35
LUADchr197373623Nonsense_MutationNAE666*0.24Dus
LUADchr197721552Missense_MutationNAE147D0.22
LUADchr197515785Nonsense_MutationNAR561*0.09
LUADchr197193091Missense_MutationNAR867L0.21
LUADchr197079097Missense_MutationnovelC986S0.13
LUADchr197234869Missense_MutationnovelG809C0.14
LUADchr197593330Missense_MutationnovelG339V0.2
LUADchr197373634Missense_MutationNAA662V0.32Dus
LUADchr197699371SilentnovelQ220Q0.16
LUADchr197098632Missense_Mutationrs201035051K875Q0.38
LUADchr197515851Missense_Mutationrs142619737G539R0.18
LUADchr197193098Missense_Mutationrs773815814V865F0.22
LUADchr197549601Missense_MutationNAD495N0.18
LUADchr197593378Missense_MutationNAA323D0.2
LUADchr197593324Missense_MutationNAG341E0.19
LUADchr197549643Missense_MutationnovelD481Y0.22
LUADchr197691739Missense_MutationnovelL247R0.42
LUADchr197306285Missense_Mutationrs202212118V691L0.14Dus
LUADchr197515851Missense_Mutationrs142619737G539R0.22
LUADchr197549609Missense_Mutationrs72549304S492L0.18
LUADchr197234944Missense_MutationNAA784S0.52
LUSCchr197573865Missense_MutationnovelE412Q0.32
LUSCchr197082452Missense_MutationnovelL929V0.18
LUSCchr197082430Missense_MutationnovelG936V0.33
LUSCchr197593249Missense_Mutationrs752985272G366V0.14
LUSCchr197593250Missense_MutationNAG366S0.14
LUSCchr197699401Frame_Shift_DelnovelY211Tfs*160.06
LUSCchr197082342SilentNAD965D0.31
LUSCchr197549711Missense_MutationNAR458K0.26
LUSCchr197593223Missense_MutationNAE375K0.43
LUSCchr197082430Missense_MutationnovelG936A0.19
LUSCchr197699451Missense_MutationnovelG194C0.39
LUSCchr197193124Missense_Mutationrs752228747T856I0.4
LUSCchr197720848Intronnovel0.25
LUSCchr197549724Missense_MutationnovelI454V0.13
LUSCchr197549701SilentnovelL461L0.58
LUSCchr197306244Missense_MutationNAI704M0.32Dus
LUSCchr197573759Splice_SiteNAX447_splice0.28
LUSCchr197593379Missense_MutationNAA323P0.23
LUSCchr197699505SilentNAL176L0.23
LUSCchr197828145Missense_MutationNAG68C0.39
LUSCchr197595146Missense_MutationnovelD291H0.3
OVchr197691724Missense_MutationNAG252V0.24
OVchr197373573SilentnovelL682L0.13
OVchr197573919Silentrs140602333R394R0.18
OVchr197515773Nonsense_MutationnovelE565*0.06
OVchr197828115Nonsense_Mutationrs776692894R78*0.2
OVchr197450190Missense_Mutationrs59086055R592W0.19
OVchr197699545Splice_RegionNAV162V0.46
OVchr197549558Splice_SiteNAX508_splice0.27
OVchr197595110Missense_MutationnovelF303L0.18
OVchr197549698SilentNAP462P0.2
OVchr197549651Nonsense_MutationnovelA478delinsDSGNSI*GDAKS0.24
PAADchr197691770Missense_Mutationrs267598789P237S0.18
PAADchr197740401Missense_Mutationrs749699298I104M0.18
PAADchr197098619Missense_MutationnovelF879S0.13
PAADchr197306195Missense_Mutationrs145548112A721T0.21Dus
PAADchr1979209415'UTRnovel0.5
PRADchr197098572Missense_MutationNAI895V0.34
PRADchr197234877Missense_MutationnovelL806P0.27
READchr197883352Missense_Mutationrs80081766R21Q0.33
READchr197193091Missense_MutationNAR867L0.36
READchr197515923Missense_Mutationrs148994843V515I0.42
READchr197079006Silentrs545959800G1016G0.39
READchr197699456Missense_MutationNAL192P0.22
READchr197079025Missense_MutationNAP1010H0.16
READchr197098588SilentNAI889I0.17
READchr197079128Nonsense_MutationnovelE976*0.38
READchr197305344SilentnovelV738V0.29
READchr197515805Missense_MutationnovelA554V0.42
READchr197720876Intronnovel0.4
SARCchr197691725Missense_MutationnovelG252S0.53
SARCchr197828139Nonsense_Mutationrs141597515R70*0.27
SARCchr197082439Missense_MutationnovelG933E0.35
SARCchr197699511Missense_MutationNAP174S0.33
SARCchr197082472Splice_SitenovelX923_splice0.19
SARCchr197699420Missense_MutationNAS204F0.44
SKCMchr197082431Missense_MutationnovelG936S0.59
SKCMchr197699379Missense_MutationNAE218K0.35
SKCMchr197593357Missense_Mutationrs777560627S330L0.3
SKCMchr197699420Missense_MutationNAS204F0.29
SKCMchr197450179SilentnovelT595T0.16
SKCMchr197450180Missense_MutationnovelT595I0.17
SKCMchr1970789093'UTRnovel0.13
SKCMchr197450147Missense_MutationNAS606F0.33
SKCMchr197721648Missense_MutationNAM115I0.3
SKCMchr197515725Splice_SiteNAX580_splice0.56
SKCMchr197082392Missense_MutationNAD949N0.36
SKCMchr197699420Missense_MutationNAS204F0.31
SKCMchr197573952Missense_MutationnovelE383K0.67
SKCMchr1970789723'UTRnovel0.41
SKCMchr197721640Missense_MutationnovelS118F0.35
SKCMchr197082351Silentrs368617815T962T0.39
SKCMchr1970789513'UTRnovel0.25
SKCMchr197234910Missense_MutationNAG795E0.18
SKCMchr197082443Missense_MutationNAL932F0.15
SKCMchr197573928SilentnovelL391L0.17
SKCMchr197573968Missense_MutationNAM377I0.55
SKCMchr197691784Missense_MutationNAP232L0.24
SKCMchr197595146Missense_MutationNAD291N0.43
SKCMchr197082392Missense_MutationNAD949N0.54
SKCMchr197234901Missense_MutationnovelS798F0.23
SKCMchr197699420Missense_MutationNAS204F0.47
SKCMchr197593263Silentrs372369973I361I0.2
SKCMchr197883281Missense_MutationNAP45S0.43
SKCMchr197699420Missense_MutationNAS204F0.15
SKCMchr197573856Missense_MutationNAE415K0.38
SKCMchr197699527SilentNAI168I0.35
SKCMchr197305282Missense_Mutationrs267598786R759Q0.31
SKCMchr197373592Missense_Mutationrs575853463G676E0.34Dus
SKCMchr197573929SilentNAF390F0.36
SKCMchr1970789653'UTRnovel0.28
SKCMchr197082428Missense_Mutationrs776236081E937K0.18
SKCMchr197193140Missense_MutationNAG851R0.32
SKCMchr197573913Missense_MutationNAV396I0.22
SKCMchr197593266SilentNAF360F0.25
SKCMchr197720896IntronNA0.17
SKCMchr197098608SilentNAL883L0.36
SKCMchr197515931Missense_MutationNAG512E0.33
SKCMchr197883281Missense_MutationNAP45S0.45
SKCMchr197082344Missense_MutationNAD965N0.2
SKCMchr197234929Missense_Mutationrs267598785P789S0.41
SKCMchr197373615Missense_MutationNAN668K0.15Dus
SKCMchr1970789393'UTRnovel0.66
SKCMchr197193106Missense_MutationnovelG862E0.64
SKCMchr197193140Missense_MutationNAG851R0.48
SKCMchr197699466Missense_MutationNAK189Q0.45
SKCMchr197079013Missense_MutationnovelK1014M0.53
SKCMchr197573955Missense_MutationnovelE382K0.3
SKCMchr197699379Missense_MutationNAE218K0.49
SKCMchr197098588SilentNAI889I0.28
SKCMchr197699412Missense_Mutationrs749269410A207T0.23
SKCMchr197515747SilentNAT573T0.5
SKCMchr197082439Missense_MutationnovelG933E0.5
SKCMchr197082396Missense_MutationnovelM947I0.29
SKCMchr197515833Missense_MutationNAP545S0.17
SKCMchr197721648Missense_MutationNAM115I0.22
SKCMchr197595154Missense_MutationNAP288L0.44
SKCMchr197573814SilentnovelL429L0.46
SKCMchr197721634Missense_Mutationrs771534236N120S0.42
SKCMchr197306297Missense_MutationNAD687N0.64Dus
SKCMchr197079034Missense_MutationNAR1007K0.09
SKCMchr197515793Missense_MutationnovelS558L0.14
SKCMchr197699370Missense_MutationNAE221K0.13
SKCMchr197079020Missense_MutationNAE1012K0.29
SKCMchr197740427Missense_MutationNAD96N0.48
SKCMchr197193209Missense_Mutationrs200687447E828K0.47
SKCMchr197699420Missense_MutationNAS204F0.14
SKCMchr197450102Nonsense_MutationnovelW621*0.39
SKCMchr197740427Missense_MutationNAD96N0.36
SKCMchr197305282Missense_Mutationrs267598786R759Q0.39
SKCMchr197573842Nonsense_MutationNAW419*0.48
SKCMchr197679178Missense_MutationNAI256N0.25
SKCMchr197883356Missense_MutationNAP20S0.21
SKCMchr197515784Missense_Mutationrs201615754R561Q0.73
SKCMchr197699422SilentNAA203A0.29
SKCMchr197699527SilentNAI168I0.37
SKCMchr197234927SilentNAP789P0.34
SKCMchr197573856Missense_MutationNAE415K0.34
SKCMchr197193074Missense_MutationNAD873N0.43
SKCMchr197193111SilentNAQ860Q0.4
SKCMchr197699409Nonsense_MutationNAR208*0.52
SKCMchr197699361Missense_MutationNAG224S0.11
SKCMchr197306243Missense_MutationNAP705S0.2Dus
SKCMchr197193210Silentrs759147254I827I0.56
SKCMchr1970789123'UTRnovel0.31
SKCMchr197098547Missense_MutationNAA903V0.47
SKCMchr197699469Missense_MutationNAA188P0.18
SKCMchr197193209Missense_Mutationrs200687447E828K0.17
SKCMchr197515832Missense_MutationNAP545L0.49
SKCMchr197549687Missense_MutationnovelP466L0.34
SKCMchr197573840Missense_MutationNAN420I0.1
SKCMchr197573784Missense_MutationNAG439S0.16
SKCMchr197193105SilentNAG862G0.32
SKCMchr197082372SilentNAN955N0.18
SKCMchr197699500SilentNAP177P0.11
SKCMchr197721645SilentNAI116I0.49
SKCMchr197305282Missense_Mutationrs267598786R759Q0.5
SKCMchr197721590Missense_MutationNAL135F0.76
SKCMchr197699379Missense_MutationNAE218K0.83
SKCMchr197515734Missense_MutationNAL578F0.37
SKCMchr197593379Missense_Mutationrs201018345A323T0.33
SKCMchr197593331Missense_MutationnovelG339R0.46
SKCMchr197373593Missense_MutationNAG676R0.33Dus
SKCMchr197193224Missense_Mutationrs752388408D823N0.07
SKCMchr197373573SilentNAL682L0.15
SKCMchr197740417Missense_MutationNAS99L0.28
SKCMchr197699420Missense_MutationNAS204F0.32
SKCMchr197450194SilentNAI590I0.36
SKCMchr197691777SilentnovelF234F0.49
SKCMchr197883355Missense_MutationNAP20L0.15
SKCMchr197079020Missense_MutationNAE1012K0.16
SKCMchr197699493Missense_MutationNAE180K0.17
SKCMchr197740427Missense_MutationNAD96N0.35
SKCMchr197305267Missense_MutationnovelG764E0.11
SKCMchr197373628Missense_Mutationrs749982106A664V0.21Dus
SKCMchr1970789093'UTRnovel0.67
SKCMchr197234929Missense_Mutationrs267598785P789S0.26
SKCMchr197079012SilentNAK1014K0.8
SKCMchr197234982Missense_MutationnovelR771K0.3
SKCMchr197515833Missense_MutationNAP545S0.65
SKCMchr197573780Missense_MutationnovelS440L0.67
SKCMchr197595130Missense_Mutationrs672601284G296D0.32
SKCMchr197595131Missense_MutationnovelG296S0.32
SKCMchr197234934Missense_MutationnovelG787E0.56
SKCMchr197305282Missense_Mutationrs267598786R759Q0.28
SKCMchr197721595Missense_MutationNAS133F0.27
SKCMchr197306294Missense_MutationNAP688S0.18Dus
STADchr197306235Frame_Shift_DelNAF707Lfs*40.16Dus
STADchr197082449Nonsense_MutationnovelQ930*0.16
STADchr197699484Missense_MutationNAS183P0.28
STADchr197593288Missense_Mutationrs778601245R353H0.43
STADchr197593273Missense_Mutationrs573299212R358H0.18
STADchr197193184Missense_MutationnovelA836V0.11
STADchr197450119SilentnovelE615E0.21
STADchr197450208Missense_MutationnovelV586I0.32
STADchr197699486Frame_Shift_Insrs754785410M182Nfs*30.2
STADchr197593263Silentrs372369973I361I0.17
STADchr197306235Frame_Shift_DelNAF707Lfs*40.39Dus
STADchr197306235Frame_Shift_DelNAF707Lfs*40.38Dus
STADchr197515738Missense_MutationNAF576L0.16
STADchr197082466Missense_MutationNAV924A0.28
STADchr197373614Missense_MutationNAL669V0.26Dus
STADchr197306235Frame_Shift_DelNAF707Lfs*40.42Dus
STADchr197373568Missense_MutationNAC684Y0.11Dus
STADchr197450120Missense_MutationNAE615A0.11
STADchr197306235Frame_Shift_DelNAF707Lfs*40.15Dus
STADchr197306235Frame_Shift_DelNAF707Lfs*40.26Dus
STADchr197720923Intronnovel0.39
STADchr197305266SilentnovelG764G0.34
STADchr197593262Missense_Mutationrs752020412V362I0.14
STADchr197515943Splice_SiteNAX509_splice0.16
STADchr197098541Missense_MutationNAS905L0.08
STADchr197450207Missense_MutationNAV586G0.1
STADchr197306235Frame_Shift_DelNAF707Lfs*40.32Dus
STADchr197593225Missense_MutationNAP374H0.29
STADchr197305265Missense_MutationnovelV765M0.38
STADchr197691743Nonsense_MutationnovelE246*0.3
STADchr197573953Missense_MutationNAE382D0.37
TGCTchr197373576SilentnovelG681G0.16
THCAchr197699534Frame_Shift_InsnovelM166Tfs*110.07
THCAchr197721582Frame_Shift_DelnovelG138Vfs*290.09
THCAchr197306181SilentNAK725K0.05
THCAchr197573853Missense_MutationnovelT416A0.11
THCAchr197234928In_Frame_InsnovelP789delinsHAA0.07
THCAchr197234930Missense_MutationnovelF788L0.04
UCECchr197306235Frame_Shift_DelNAF707Lfs*40.26Dus
UCECchr197098560Nonsense_MutationNAE899*0.3
UCECchr197382402Missense_MutationNAK655N0.26Dus
UCECchr1970787753'UTRnovel0.09
UCECchr197098625Missense_MutationNAP877Q0.11
UCECchr197883286Missense_MutationNAR43I0.27
UCECchr197098497Missense_MutationNAT920A0.4
UCECchr197306248Missense_MutationnovelQ703L0.09Dus
UCECchr197515785Nonsense_MutationNAR561*0.3
UCECchr197740477Missense_MutationnovelC79Y0.36
UCECchr197828133Missense_MutationnovelA72T0.36
UCECchr197883319Missense_Mutationrs748974194S32L0.29
UCECchr197721541Missense_MutationNAN151T0.4
UCECchr197573870Missense_Mutationrs199646142R410Q0.22
UCECchr1970789753'UTRnovel0.39
UCECchr197079062Missense_Mutationrs745982505I998V0.38
UCECchr197082337Missense_MutationnovelG967D0.35
UCECchr197193093Silentrs672601274P866P0.2
UCECchr197573871Missense_Mutationrs528430685R410W0.36
UCECchr197679132SilentnovelL271L0.32
UCECchr197082379Missense_MutationNAC953Y0.47
UCECchr197720907IntronNA0.45
UCECchr197740430Missense_MutationNAL95I0.15
UCECchr197382390Splice_Regionnovel0.45
UCECchr197720927Intronrs7495424560.56
UCECchr1970787673'UTRnovel0.49
UCECchr197305321Missense_MutationNAS746Y0.42
UCECchr197573871Missense_Mutationrs528430685R410W0.45
UCECchr197699450Missense_Mutationrs751841116G194D0.37
UCECchr197305282Missense_Mutationrs267598786R759Q0.4
UCECchr197373576SilentnovelG681G0.24
UCECchr1979209625'UTRnovel0.36
UCECchr197078986Missense_Mutationrs758640823P1023L0.32
UCECchr197450156Missense_Mutationrs371258350G603E0.45
UCECchr197306206Missense_MutationNAI717S0.26Dus
UCECchr197573901Missense_MutationNAG400C0.17
UCECchr197306282Missense_Mutationrs538703919R692W0.47Dus
UCECchr197679101Nonsense_MutationNAG282*0.38
UCECchr197082400Missense_Mutationrs753950237A946V0.07
UCECchr197305365Silentrs139543981G731G0.15
UCECchr197549557Splice_Regionnovel0.2
UCECchr197593262Missense_Mutationrs752020412V362I0.31
UCECchr197549674Missense_MutationnovelQ470H0.21
UCECchr197573806Silentrs770549765A431A0.15
UCECchr197593274Missense_Mutationrs779557503R358C0.14
UCECchr197699409Nonsense_MutationNAR208*0.19
UCECchr197549609Missense_Mutationrs72549304S492L0.41
UCECchr197549595Missense_MutationnovelK497Q0.32
UCECchr197920897Missense_MutationNAS9L0.35
UCECchr197573806Silentrs770549765A431A0.31
UCECchr197079116Missense_MutationnovelP980S0.35
UCECchr197098633Splice_SitenovelX875_splice0.34
UCECchr197720681Intronnovel0.5
UCECchr197720832Intronnovel0.42
UCECchr197593289Missense_Mutationrs143154602R353C0.25
UCECchr197699408Missense_Mutationrs376073289R208Q0.29
UCECchr197306289SilentnovelE689E0.51
UCECchr197098529Missense_MutationnovelR909I0.42
UCECchr197305282Missense_Mutationrs267598786R759Q0.3
UCECchr1970788843'UTRnovel0.21
UCECchr197721566Missense_MutationnovelY143N0.1
UCECchr197382462Splice_SitenovelX636_splice0.38
UCECchr197720886Intronnovel0.23
UCECchr197306269Missense_Mutationrs778298325R696H0.35Dus
UCECchr197679174Silentrs754745863C257C0.45
UCECchr197306235Frame_Shift_DelNAF707Lfs*40.12Dus
UCECchr197079141Missense_MutationNAI971M0.46
UCECchr197082344Missense_MutationnovelD965Y0.33
UCECchr197515784Missense_Mutationrs201615754R561Q0.43
UCECchr197549638Silentrs376470184V482V0.55
UCECchr197549739Nonsense_MutationnovelE449*0.23
UCECchr197691758Missense_MutationnovelV241M0.24
UCECchr197699399Missense_Mutationrs72549307Y211C0.3
UCECchr197828153Missense_Mutationrs371587702T65M0.33
UCECchr197593343Missense_Mutationrs72549306V335M0.51
UCECchr197573948Missense_MutationnovelK384T0.31
UCECchr197593227SilentnovelV373V0.41
UCECchr197593357Missense_Mutationrs777560627S330L0.26
UCECchr197515736Missense_MutationnovelS577Y0.52
UCECchr197699409Nonsense_MutationNAR208*0.39
UCECchr197720927IntronNA0.36
UCECchr1970786853'UTRnovel0.2
UCECchr197305365Silentrs139543981G731G0.29
UCECchr197593255Missense_MutationnovelR364I0.28
UCECchr197450223Missense_MutationnovelD581Y0.16
UCECchr197549559Splice_SitenovelX508_splice0.37
UCECchr197593262Missense_Mutationrs752020412V362I0.18
UCECchr197079104Missense_Mutationrs760235888D984N0.27
UCECchr197883368Missense_MutationNAL16M0.35
UCECchr197450112Missense_MutationnovelA618T0.38
UCECchr197193115Missense_MutationnovelH859R0.52
UCECchr197720725Intronnovel0.47
UCECchr197515878Missense_MutationnovelL530M0.42
UCECchr197193165Frame_Shift_InsnovelS842Rfs*40.09
UCECchr197691797Frame_Shift_DelnovelT228Lfs*130.09
UCECchr197305352Missense_MutationnovelN736H0.24
UCECchr197515785Nonsense_MutationNAR561*0.22
UCECchr197515923Missense_Mutationrs148994843V515I0.19
UCECchr197305293SilentnovelG755G0.49
UCECchr197593382Missense_MutationnovelC322R0.47
UCECchr197450077Missense_MutationNAK629N0.37
UCECchr1979210445'Flanknovel0.4
UCECchr197306204Missense_MutationnovelV718M0.43Dus
UCECchr197515781Missense_MutationnovelR562K0.5
UCECchr197721597SilentnovelT132T0.18
UCECchr197828130Missense_MutationnovelL73F0.15
UCSchr197549586Missense_MutationnovelS500P0.44

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
BRCADEL0.27595.7821e-10
CESCDEL0.08810.01281
COADDEL0.23950.00038973
DLBCDEL0.08330.0017831
MESODEL0.42535.9874e-12
PRADDEL0.09550.0061054
SKCMDEL0.21259.7877e-07
STADDEL0.18370.0040659
TGCTAMP0.17330.088103

Survival Analysis
CancerP-value Q-value
MESO0.00018

Kaplan-Meier Survival Analysis

ACC0.0022

Kaplan-Meier Survival Analysis

SKCM0.00013

Kaplan-Meier Survival Analysis

LUSC0.019

Kaplan-Meier Survival Analysis

BRCA0.026

Kaplan-Meier Survival Analysis

PAAD0.00058

Kaplan-Meier Survival Analysis

LAML0.032

Kaplan-Meier Survival Analysis

KICH0.045

Kaplan-Meier Survival Analysis

GBM0.022

Kaplan-Meier Survival Analysis

LUAD0.032

Kaplan-Meier Survival Analysis

UVM0.011

Kaplan-Meier Survival Analysis

OV0.045

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBDs
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000188641 (Gene tree)
Gene ID
1806
Gene Symbol
DPYD
Alias
DPD
Full Name
dihydropyrimidine dehydrogenase
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Minus strand
Length
917,258 bases
Position
chr1:97,077,743-97,995,000
Accession
3012
RBP type
canonical RBP
Summary
The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
RNA binding domains(RBDs)
Protein IDDomain Pfam IDE-value Domain number Total number
ENSP00000359211DusPF01207.171.1e-0611
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000306031DPYD-2011779-ENSP00000307107173 (aa)-Q12882
ENST00000646851DPYD-205799--- (aa)--
ENST00000474241DPYD-2041036--- (aa)--
ENST00000370192DPYD-2024412XM_005270562ENSP000003592111025 (aa)XP_005270619Q12882
ENST00000460019DPYD-203551--- (aa)--
Gene Model
Click here to download ENSG00000188641's gene model file
Pathways
Pathway IDPathway NameSource
hsa00240Pyrimidine metabolismKEGG
hsa00410beta-Alanine metabolismKEGG
hsa00770Pantothenate and CoA biosynthesisKEGG
hsa00983Drug metabolism - other enzymesKEGG
hsa01100Metabolic pathwaysKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000188641Body Mass Index3.82174696255354E-517903300
ENSG00000188641Body Mass Index9.34491536301856E-517903300
ENSG00000188641Body Mass Index3.90550385800621E-517903300
ENSG00000188641Body Weight7.75007406653866E-517903300
ENSG00000188641Body Mass Index4.07827249701877E-517903300
ENSG00000188641Body Mass Index1.49787933724885E-517903300
ENSG00000188641Body Mass Index5.60146183386526E-517903300
ENSG00000188641Triglycerides5.77060579256276E-517903299
ENSG00000188641Lipids2.82665825673754E-517903299
ENSG00000188641Platelet Aggregation2.88852579640401E-517903294
ENSG00000188641Platelet Aggregation2.76089868100783E-517903294
ENSG00000188641Platelet Aggregation1.6432518722821E-517903294
ENSG00000188641Platelet Aggregation2.76296082390217E-517903294
ENSG00000188641Social Behavior5.382e-005-
ENSG00000188641Personality9.78e-005-
ENSG00000188641Personality9.78e-005-
ENSG00000188641Hypertrophy, Left Ventricular4.0790000E-005-
ENSG00000188641Hypertrophy, Left Ventricular3.5040000E-005-
ENSG00000188641Platelet Function Tests3.3800000E-006-
ENSG00000188641Platelet Function Tests6.2500000E-006-
ENSG00000188641Platelet Function Tests6.2500000E-006-
ENSG00000188641Platelet Function Tests6.2500000E-006-
ENSG00000188641Platelet Function Tests6.2500000E-006-
ENSG00000188641Platelet Function Tests1.2672500E-005-
ENSG00000188641Platelet Function Tests3.3097800E-005-
ENSG00000188641Platelet Function Tests3.7177700E-005-
ENSG00000188641Platelet Function Tests3.0147777E-006-
ENSG00000188641Platelet Count9E-621507922
ENSG00000188641Menarche2E-925231870
ENSG00000188641Schizophrenia1E-726198764
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000188641rs4394694197905893ACoronary artery disease29212778[0.018-0.05] unit increase0.034EFO_0000378
ENSG00000188641rs61789073197938540TAutism spectrum disorder or schizophrenia28540026[1.08-1.17]1.12EFO_0000692|EFO_0003756
ENSG00000188641rs4378243197930325TEducational attainment (years of education)27225129NR unit increase0.017930204EFO_0004784
ENSG00000188641rs11165924197909892AMenarche (age at onset)25231870[0.018-0.042] unit increase0.03EFO_0004703
ENSG00000188641rs76869799197368969GSchizophrenia26198764[NR]1.1764705EFO_0000692
ENSG00000188641rs36025579197337068GSchizophrenia28991256[1.03-1.07]1.0515248EFO_0000692
ENSG00000188641rs6685658197524780CHeart rate response to beta blockers (atenolol monotherapy)29478026[3.22-7.92] bpm decrease5.57EFO_0007766|EFO_0004326
ENSG00000188641rs78164635197823025TIntelligence (MTAG)29326435[0.022-0.044] unit decrease0.032896135EFO_0004337
ENSG00000188641rs78164635197823025TCognitive performance30038396[0.023-0.045] unit decrease0.034EFO_0008354
ENSG00000188641rs76586805197864883TSelf-reported math ability30038396[0.018-0.031] unit increase0.0245EFO_0004875
ENSG00000188641rs10875121197951890CEducational attainment (MTAG)30038396[0.012-0.019] unit increase0.0158EFO_0004784
ENSG00000188641rs6663751197412887ASelf-reported math ability (MTAG)30038396[0.0093-0.0195] unit increase0.0144EFO_0004875
ENSG00000188641rs76586805197864883TSelf-reported math ability (MTAG)30038396[0.019-0.031] unit increase0.025EFO_0004875
ENSG00000188641rs12047563197388977AHighest math class taken (MTAG)30038396[0.0084-0.0162] unit increase0.0123EFO_0004875
ENSG00000188641rs17378539197743554THighest math class taken (MTAG)30038396[0.0082-0.0168] unit increase0.0125EFO_0004875
ENSG00000188641rs76586805197864883THighest math class taken (MTAG)30038396[0.019-0.03] unit increase0.0248EFO_0004875
ENSG00000188641rs10747488197833919AFeeling nervous29500382z score increase5.6EFO_0009597
ENSG00000188641rs6703588197969988AFeeling nervous29500382z score decrease5.49EFO_0009597
ENSG00000188641rs11165846197354111?Platelet count21507922EFO_0004309
ENSG00000188641rs187785463197686569GBorderline personality disorder28632202[1.72-2.33]2.0263424HP_0012076
ENSG00000188641rs693680197261527?DNA methylation variation (age effect)30348214GO_0006306
ENSG00000188641rs11165867197412512?Schizophrenia29483656[1.05-1.10]1.0718113EFO_0000692
ENSG00000188641rs187951956197947157AEducational attainment (years of education)30038396[0.02-0.043] unit decrease0.0315EFO_0004784
ENSG00000188641rs10875121197951890CEducational attainment (years of education)30038396[0.014-0.021] unit increase0.0174EFO_0004784
ENSG00000188641rs4506495197938678TEducational attainment (years of education)30038396[0.014-0.021] unit increase0.0174EFO_0004784
ENSG00000188641rs6664489197953131GHeel bone mineral density30598549[0.01-0.019] unit decrease0.0145766EFO_0009270
ENSG00000188641rs75641275197861577ASleep duration30531941[0.028-0.056] SD units increase0.042EFO_0005271
ENSG00000188641rs10875121197951890?Educational attainment (years of education)30595370EFO_0004784
ENSG00000188641rs75641275197861577?Body mass index30595370EFO_0004340
ENSG00000188641rs11165924197909892?Menarche (age at onset)30595370EFO_0004703
ENSG00000188641rs12047910197134483?Morning person30595370EFO_0008328
ENSG00000188641rs28552810197299349ASmoking initiation (ever regular vs never regular) (MTAG)30643251[0.0051-0.0103] unit decrease0.00771947EFO_0006527
ENSG00000188641rs4271249197933063TGeneral risk tolerance (MTAG)30643258[0.0043-0.0091] unit increase0.0067EFO_0008579
ENSG00000188641rs360255791