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mutLBSgeneDB |
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| Gene summary for PRTFDC1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PRTFDC1 |
| Gene name | phosphoribosyl transferase domain containing 1 | |
| Synonyms | HHGP | |
| Cytomap | UCSC genome browser: 10p12.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001282786.1, NM_020200.6, | |
| Description | phosphoribosyltransferase domain-containing protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610751 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000099256 | ||
| HPRD : 17917 | ||
| Vega : OTTHUMG00000017829 | ||
| Protein | UniProt: Q9NRG1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PRTFDC1 | |
| BioGPS: 56952 | ||
| Pathway | NCI Pathway Interaction Database: PRTFDC1 | |
| KEGG: PRTFDC1 | ||
| REACTOME: PRTFDC1 | ||
| Pathway Commons: PRTFDC1 | ||
| Context | iHOP: PRTFDC1 | |
| ligand binding site mutation search in PubMed: PRTFDC1 | ||
| UCL Cancer Institute: PRTFDC1 | ||
| 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:0006178 | guanine salvage | 21054786 | GO:0046038 | GMP catabolic process | 21054786 |
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| Ligand binding site mutations for PRTFDC1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D142 | D142A | KIRC | 1 | G145 | G145E | SKCM | 1 | R148 | R148M | 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 PRTFDC1 |
| 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 | D142 | D142A | -0.78265652 | R148 | R148M | -0.58945085 | G145 | G145E | -0.20405085 |
| (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 PRTFDC1 from PDB |
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| Differential gene expression and gene-gene network for PRTFDC1 |
| 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 PRTFDC1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007137 | Carcinoma, Squamous Cell | 1 | Biomarker |
| umls:C0026640 | Mouth Neoplasms | 1 | Biomarker |
| umls:C0919267 | Ovarian Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PRTFDC1 |
| 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 PRTFDC1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 2jbh | A | D142 | CA | CALCIUM(2+) | 2jbh | B | D142 | 5GP | GMP RESIDUE | 2jbh | A | D142 G145 R148 | 5GP | GMP RESIDUE | 2jbh | B | D142 G145 R148 |
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| Conservation information for LBS of PRTFDC1 |
| Multiple alignments for Q9NRG1 in multiple species |
| LBS | AA sequence | # species | Species |
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