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1807 DPYS

1807

DPYS

dihydropyrimidinase

protein-coding

Homo sapiens

基因描述

Type Description
Definition dihydropyrimidinase

研究结论

Date Results Publications
2020-03-21 10:37:00 This study defines dihydropyrimidines as potentially cytotoxic metabolites that may offer an opportunity for therapeutic-targeting of dihydropyrimidinase activity in solid tumors. 31853544
2018-09-01 12:12:00 4 newly identified DHP deficient patients presented with strongly elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine and a highly variable clinical presentation, ranging from asymptomatic to infantile spasm and reduced white matter and brain atrophy. Analysis of the DHP gene (DPYS) showed the presence of 8 variants including 4 novel/rare missense variants and one novel deletion. 29054612
2016-10-22 11:58:00 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. 26771602
2015-06-06 13:46:00 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. 25193387
2010-09-15 22:06:00 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) 20797317

名称对应

Type IDs
Synonymous DHP, DHPase
Gene
UniProtKB-ID: DPYS_HUMAN
UniprotKB: Q14117
UniParc: UPI000012986F
EMBL: D78011, BC034395, AB004678
Ensembl: ENSG00000147647
KO: hsa:1807
Nucleutide sequences
EMBL-CDS: BAA33067.1, AAH34395.1, BAA11189.1
Ensembl_TRS: ENST00000351513
Protein sequencees
Ensembl_PRO: ENSP00000276651
RefSeq: XP_016868656.1, XP_024302855.1, XP_005250875.1, NP_001376.1, XP_011515205.1, XP_006716581.1
Others
UniRef100: UniRef100_Q14117
UniRef90: UniRef90_Q14117
UniRef50: UniRef50_Q14117
UniGene: Hs.443161
CCDS: CCDS6302.1

全选

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