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mutLBSgeneDB |
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| Gene summary for DPYS |
 Gene summary |
| Basic gene Info. | Gene symbol | DPYS |
| Gene name | dihydropyrimidinase | |
| Synonyms | DHP|DHPase | |
| Cytomap | UCSC genome browser: 8q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001385.2, | |
| Description | dihydropyrimidine amidohydrolasehydantoinase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 613326 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000147647 | ||
| HPRD : 01960 | ||
| Vega : OTTHUMG00000164891 | ||
| Protein | UniProt: Q14117 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DPYS | |
| BioGPS: 1807 | ||
| Pathway | NCI Pathway Interaction Database: DPYS | |
| KEGG: DPYS | ||
| REACTOME: DPYS | ||
| Pathway Commons: DPYS | ||
| Context | iHOP: DPYS | |
| ligand binding site mutation search in PubMed: DPYS | ||
| UCL Cancer Institute: DPYS | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006208 | pyrimidine nucleobase catabolic process | 9718352 | GO:0006212 | uracil catabolic process | 10410956 |
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| Ligand binding site mutations for DPYS |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H192 | V191A | COAD | 1 | H192 | Q190H | COAD | 1 | K159 | K159N | COAD | 1 | H248 | M250I | SKCM | 1 | D326 | G324E | SKCM | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for DPYS |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | K159 | K159N | -1.4941453 | H192 | V191A | -0.92354985 | H248 | M250I | -0.88920274 | H192 | Q190H | -0.69615078 | D326 | G324E | -0.38672481 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for DPYS from PDB |
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| Differential gene expression and gene-gene network for DPYS |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for DPYS |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0342803 | Dihydropyrimidinase Deficiency | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DPYS |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of DPYS go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2vr2 | A | K159 D326 | ZN | ZINC(2+) | 2vr2 | A | K159 H192 H248 |
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| Conservation information for LBS of DPYS |
| Multiple alignments for Q14117 in multiple species |
| LBS | AA sequence | # species | Species | D326 | TTTGSDNCTFN | 2 | Mus musculus, Rattus norvegicus | D326 | TTTGTDNCTFN | 1 | Homo sapiens | D326 | QLVGTDHCTFN | 1 | Arabidopsis thaliana | D326 | HLTGTDNCTYD | 1 | Caenorhabditis elegans | D326 | HLTATDNCTFD | 1 | Caenorhabditis elegans | H192 | AIAQVHAENGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H192 | ALAMVHAENGD | 1 | Arabidopsis thaliana | H192 | ALARVHCENGS | 1 | Caenorhabditis elegans | H192 | ALARVHAENGS | 1 | Caenorhabditis elegans | H248 | PLYIVHVMSKS | 2 | Homo sapiens, Rattus norvegicus | H248 | PLYVVHVMSVD | 1 | Arabidopsis thaliana | H248 | PLYVVHVMSKS | 1 | Mus musculus | H248 | PVYIVHVMTKG | 1 | Caenorhabditis elegans | H248 | PLYVVHVMSKG | 1 | Caenorhabditis elegans | H67 | GGIDTHTHMQF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H67 | GGIDPHTHLAM | 1 | Arabidopsis thaliana | H67 | GGIDPHTHMQM | 1 | Caenorhabditis elegans | H67 | GGIDPHTHMQL | 1 | Caenorhabditis elegans | H69 | IDTHTHMQFPF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H69 | IDPHTHLAMEF | 1 | Arabidopsis thaliana | H69 | IDPHTHMQMPY | 1 | Caenorhabditis elegans | H69 | IDPHTHMQLPF | 1 | Caenorhabditis elegans | K159 | GVNSFKMFMAY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K159 | GINSFKFFLAY | 2 | Arabidopsis thaliana, Caenorhabditis elegans | K159 | GVNSFKFYMAY | 1 | Caenorhabditis elegans |
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