Property Summary

NCBI Gene PubMed Count 17
Grant Count 20
R01 Count 15
Funding $1,446,833.82
PubMed Score 63.25
PubTator Score 214.89

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
nephrosclerosis -2.282 0.020
adrenocortical adenoma -1.483 0.001
adrenocortical carcinoma -1.784 0.000
ovarian cancer -2.900 0.000
chronic rhinosinusitis -1.655 0.026

Gene RIF (9)

PMID Text
26771602 Two unrelated pediatric DPYS deficiency cases are being described as compound heterozygotes for a novel intronic mutation c.1443+5G>A in intron 8 and a previously described missense mutation c.1001A>G (p.Q334R) in exon 6.
25193387 Stepwise Cox regression modelling suggested that the methylation of genes HSPB1, CCND2 and DPYS contributed objective prognostic information to Gleason score and PSA with respect to prostate cancer-related death.
20797317 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20362666 The p.S379R and p.L7V mutations were likely to cause structural destabilization and protein misfolding. Four mutations were identified in multiple unrelated DHP patients, indicating that DHP deficiency may be more common than anticipated.
19649633 Results indicate that missense and nonsense variants in DPYS are infrequent, however, the development of serious primarily gastrointestinal toxicity could be influenced by non-coding DPYS sequence variants c.-1T>C and IVS1-58T>C.
19649633 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18075467 Observational study of gene-disease association. (HuGE Navigator)
18075467 data presented in this study offers evidence for the possible genetic regulation of the DPYS gene and its possible influence on uracil catabolic pathway
17383919 clinical, biochemical & genetic findings of two newly identified patients with a complete DHP deficiency; both patients were compound heterozygous for the missense mutation 1078T>C (W360R) in exon 6 and a novel missense mutation 1235G>T (R412M) in exon 7

AA Sequence

MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGIDTHTHM      1 - 70
QFPFMGSRSIDDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCDYSLHVAVTWWSD     71 - 140
QVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFSRCKEIGAIAQVHAENGDLIAEGAKKMLALG    141 - 210
ITGPEGHELCRPEAVEAEATLRAITIASAVNCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTD    211 - 280
GTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDLTTTGTDNCTFNTCQKALGKDDFTKIPNGVN    281 - 350
GVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAKIFNLYPRKGRIAVGSDADIVIWDPKGTRTISAKTHH    351 - 420
QAVNFNIFEGMVCHGVPLVTISRGKVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRIKQRDRTCTPTPVER    421 - 490
APYKGEVATLKSRVTKEDATAGTRKQAHP                                             491 - 519
//

Text Mined References (18)

PMID Year Title
26771602 2016 Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.
25193387 2014 DNA methylation gene-based models indicating independent poor outcome in prostate cancer.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
20797317 2010 Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT.
20362666 Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
19649633 2010 Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18216719 2008 Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism.
18075467 2007 Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism.
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