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mutLBSgeneDB |
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| Gene summary for PRPS1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PRPS1 |
| Gene name | phosphoribosyl pyrophosphate synthetase 1 | |
| Synonyms | ARTS|CMTX5|DFN2|DFNX1|PPRibP|PRS-I|PRSI | |
| Cytomap | UCSC genome browser: Xq22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001204402.1, NM_002764.3, | |
| Description | dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)deafness 2, perceptive, congenitaldeafness, X-linked 2, perceptive, congenitalphosphoribosyl pyrophosphate synthase Iribose-phosphate diphosphokinase 1ribose-phosphate pyrophosphokinase 1 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 311850 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000147224 | ||
| HPRD : 02413 | ||
| Vega : OTTHUMG00000022167 | ||
| Protein | UniProt: P60891 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PRPS1 | |
| BioGPS: 5631 | ||
| Pathway | NCI Pathway Interaction Database: PRPS1 | |
| KEGG: PRPS1 | ||
| REACTOME: PRPS1 | ||
| Pathway Commons: PRPS1 | ||
| Context | iHOP: PRPS1 | |
| ligand binding site mutation search in PubMed: PRPS1 | ||
| UCL Cancer Institute: PRPS1 | ||
| 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 |
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| Ligand binding site mutations for PRPS1 |
| 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 | R96 | A95V | KIRC | 1 | K102 | S103N | SKCM | 1 | D101 | D101Y | UCEC | 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 PRPS1 |
| 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 | K102 | S103N | -1.072272 | R96 | A95V | -0.71179315 | D101 | D101Y | -0.58536491 |
| (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 PRPS1 from PDB |
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| Differential gene expression and gene-gene network for PRPS1 |
| 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 PRPS1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0796028 | Arts syndrome | 1 | Biomarker, GeneticVariation |
| umls:C1839566 | Optic atrophy polyneuropathy deafness | 1 | Biomarker, GeneticVariation |
| umls:C0043094 | Weight Gain | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PRPS1 |
| 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 PRPS1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SO4 | SULFATE | 2hcr | A | D101 K102 | AMP | AMP | 2hcr | A | R96 | AMP | AMP | 2hcr | B | R96 D101 |
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| Conservation information for LBS of PRPS1 |
| Multiple alignments for P60891 in multiple species |
| LBS | AA sequence | # species | Species | D101 | RQDKKDKSRAP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D101 | RADRKTQGRES | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | D101 | RADRKSQGRES | 1 | Oryza sativa subsp. japonica | H130 | ITMDLHASQIQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H130 | LACDLHSGQSM | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | H130 | LVCDLHSSQAM | 1 | Oryza sativa subsp. japonica | H304 | AIRRTHNGESV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H304 | TIWRVHDDSSV | 2 | Arabidopsis thaliana, Arabidopsis thaliana | H304 | TIWRVHDDCSV | 1 | Oryza sativa subsp. japonica | H304 | TIWRVHDDCSG | 1 | Arabidopsis thaliana | K102 | QDKKDKSRAPI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K102 | ADRKTQGRESI | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | K102 | ADRKSQGRESI | 1 | Oryza sativa subsp. japonica | K99 | YARQDKKDKSR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K99 | YARADRKTQGR | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | K99 | YARADRKSQGR | 1 | Oryza sativa subsp. japonica | N144 | DIPVDNLYAEP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N144 | DIPVDHVYGQP | 2 | Oryza sativa subsp. japonica, Arabidopsis thaliana | N144 | DIPVDHVYCQP | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Q135 | HASQIQGFFDI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q135 | HSGQSMGYFDI | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | Q135 | HSSQAMGYFDI | 1 | Oryza sativa subsp. japonica | Q97 | FPYARQDKKDK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q97 | FGYARADRKTQ | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | Q97 | FGYARADRKSQ | 1 | Oryza sativa subsp. japonica | R96 | CFPYARQDKKD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R96 | YFGYARADRKT | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | R96 | YFGYARADRKS | 1 | Oryza sativa subsp. japonica | S132 | MDLHASQIQGF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S132 | CDLHSGQSMGY | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | S132 | CDLHSSQAMGY | 1 | Oryza sativa subsp. japonica | Y146 | PVDNLYAEPAV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y146 | PVDHVYGQPVI | 2 | Oryza sativa subsp. japonica, Arabidopsis thaliana | Y146 | PVDHVYCQPVI | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Y54 | RGEDVYIVQSG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y54 | RGCDVFLVQPT | 3 | Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | Y54 | RGCDVYLVQPT | 1 | Arabidopsis thaliana |
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