mutLBSgeneDB |
Gene summary for PROS1 |
Gene summary |
Basic gene Info. | Gene symbol | PROS1 |
Gene name | protein S (alpha) | |
Synonyms | PROS|PS21|PS22|PS23|PS24|PS25|PSA|THPH5|THPH6 | |
Cytomap | UCSC genome browser: 3q11.2 | |
Type of gene | protein-coding | |
RefGenes | NM_000313.3, | |
Description | protein Savitamin K-dependent plasma protein Svitamin K-dependent protein S | |
Modification date | 20141207 | |
dbXrefs | MIM : 176880 | |
HGNC : HGNC | ||
Ensembl : ENSG00000184500 | ||
HPRD : 01473 | ||
Vega : OTTHUMG00000150354 | ||
Protein | UniProt: P07225 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PROS1 | |
BioGPS: 5627 | ||
Pathway | NCI Pathway Interaction Database: PROS1 | |
KEGG: PROS1 | ||
REACTOME: PROS1 | ||
Pathway Commons: PROS1 | ||
Context | iHOP: PROS1 | |
ligand binding site mutation search in PubMed: PROS1 | ||
UCL Cancer Institute: PROS1 | ||
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 PROS1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | D243 | D243Y | COAD | 1 | D201 | D201Y | LUAD | 1 | E204 | C205F | LUSC | 1 | D243 | C241W | STAD | 1 | D201 | K200I | THCA | 1 | I244,E246 | D245Y | 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 PROS1 |
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 |
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 | D201 | K200I | -1.0529049 | E204 | C205F | -0.92893362 | I244 | D245Y | -0.72270382 | E246 | D245Y | -0.72270382 | D243 | C241W | -0.55869993 | D243 | D243Y | -0.35003941 | D201 | D201Y | -0.031274374 |
(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 PROS1 from PDB |
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Differential gene expression and gene-gene network for PROS1 |
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 PROS1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0600433 | Activated Protein C Resistance | 4 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0040053 | Thrombosis | 4 | Biomarker, GeneticVariation |
umls:C0040038 | Thromboembolism | 2 | Biomarker |
umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
umls:C0338575 | Sagittal Sinus Thrombosis | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for PROS1 |
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. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Approved|investigational|withdrawn | DB00055 | Drotrecogin alfa | Biotech | |
Approved|nutraceutical | DB00170 | Menadione | Small molecule | |
Approved | DB00464 | Sodium Tetradecyl Sulfate | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of PROS1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of PROS1 |
Multiple alignments for P07225 in multiple species |
LBS | AA sequence | # species | Species | D201 | KKDCKDVDECS | 2 | Homo sapiens, Macaca mulatta | D201 | KKDCKDLDECA | 1 | Mus musculus | D201 | KKDCKDVDECV | 1 | Bos taurus | D203 | DCKDVDECSLK | 2 | Homo sapiens, Macaca mulatta | D203 | DCKDLDECALK | 1 | Mus musculus | D203 | DCKDVDECVLK | 1 | Bos taurus | D243 | SKSCEDIDECS | 1 | Homo sapiens | D243 | SKSCKDVDECS | 1 | Mus musculus | D243 | SKSCDDVDECA | 1 | Bos taurus | D243 | SKSCEDVDECS | 1 | Macaca mulatta | E204 | CKDVDECSLKP | 2 | Homo sapiens, Macaca mulatta | E204 | CKDLDECALKP | 1 | Mus musculus | E204 | CKDVDECVLKP | 1 | Bos taurus | E246 | CEDIDECSENM | 1 | Homo sapiens | E246 | CKDVDECSENM | 1 | Mus musculus | E246 | CDDVDECAENL | 1 | Bos taurus | E246 | CEDVDECSENM | 1 | Macaca mulatta | G261 | CVNYPGGYTCY | 2 | Homo sapiens, Macaca mulatta | G261 | CVNFPGGYSCY | 1 | Mus musculus | G261 | CVNYPGGYSCY | 1 | Bos taurus | I220 | AVCKNIPGDFE | 4 | Homo sapiens, Mus musculus, Bos taurus, Macaca mulatta | I244 | KSCEDIDECSE | 1 | Homo sapiens | I244 | KSCKDVDECSE | 1 | Mus musculus | I244 | KSCDDVDECAE | 1 | Bos taurus | I244 | KSCEDVDECSE | 1 | Macaca mulatta | N219 | TAVCKNIPGDF | 4 | Homo sapiens, Mus musculus, Bos taurus, Macaca mulatta | N258 | AQLCVNYPGGY | 3 | Homo sapiens, Bos taurus, Macaca mulatta | N258 | AQLCVNFPGGY | 1 | Mus musculus | P221 | VCKNIPGDFEC | 4 | Homo sapiens, Mus musculus, Bos taurus, Macaca mulatta | P260 | LCVNYPGGYTC | 2 | Homo sapiens, Macaca mulatta | P260 | LCVNFPGGYSC | 1 | Mus musculus | P260 | LCVNYPGGYSC | 1 | Bos taurus | V202 | KDCKDVDECSL | 2 | Homo sapiens, Macaca mulatta | V202 | KDCKDLDECAL | 1 | Mus musculus | V202 | KDCKDVDECVL | 1 | Bos taurus | Y259 | QLCVNYPGGYT | 2 | Homo sapiens, Macaca mulatta | Y259 | QLCVNFPGGYS | 1 | Mus musculus | Y259 | QLCVNYPGGYS | 1 | Bos taurus |
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