mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for PROS1
Gene summary
Basic gene Info.Gene symbolPROS1
Gene nameprotein S (alpha)
SynonymsPROS|PS21|PS22|PS23|PS24|PS25|PSA|THPH5|THPH6
CytomapUCSC genome browser: 3q11.2
Type of geneprotein-coding
RefGenesNM_000313.3,
Descriptionprotein Savitamin K-dependent plasma protein Svitamin K-dependent protein S
Modification date20141207
dbXrefs MIM : 176880
HGNC : HGNC
Ensembl : ENSG00000184500
HPRD : 01473
Vega : OTTHUMG00000150354
ProteinUniProt: P07225
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PROS1
BioGPS: 5627
PathwayNCI Pathway Interaction Database: PROS1
KEGG: PROS1
REACTOME: PROS1
Pathway Commons: PROS1
ContextiHOP: PROS1
ligand binding site mutation search in PubMed: PROS1
UCL Cancer Institute: PROS1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for PROS1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D243D243YCOAD1
D201D201YLUAD1
E204C205FLUSC1
D243C241WSTAD1
D201K200ITHCA1
I244,E246D245YUCEC1
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.
LBSAAchange of nsSNVRelative stability change
D201K200I-1.0529049
E204C205F-0.92893362
I244D245Y-0.72270382
E246D245Y-0.72270382
D243C241W-0.55869993
D243D243Y-0.35003941
D201D201Y-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)
* Left PPI network was created from samples with mutations in the LBS of PROS1 and the right PPI network was created from samples without mutations in the LBS of PROS1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for PROS1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0600433Activated Protein C Resistance4AlteredExpression, Biomarker, GeneticVariation
umls:C0040053Thrombosis4Biomarker, GeneticVariation
umls:C0040038Thromboembolism2Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker
umls:C0338575Sagittal Sinus Thrombosis1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype 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 statusDrugBank IDNameTypeDrug structure
Approved|investigational|withdrawnDB00055Drotrecogin alfaBiotech
Approved|nutraceuticalDB00170MenadioneSmall molecule
ApprovedDB00464Sodium Tetradecyl SulfateSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PROS1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of PROS1
Multiple alignments for P07225 in multiple species
LBSAA sequence# speciesSpecies
D201KKDCKDVDECS2Homo sapiens, Macaca mulatta
D201KKDCKDLDECA1Mus musculus
D201KKDCKDVDECV1Bos taurus
D203DCKDVDECSLK2Homo sapiens, Macaca mulatta
D203DCKDLDECALK1Mus musculus
D203DCKDVDECVLK1Bos taurus
D243SKSCEDIDECS1Homo sapiens
D243SKSCKDVDECS1Mus musculus
D243SKSCDDVDECA1Bos taurus
D243SKSCEDVDECS1Macaca mulatta
E204CKDVDECSLKP2Homo sapiens, Macaca mulatta
E204CKDLDECALKP1Mus musculus
E204CKDVDECVLKP1Bos taurus
E246CEDIDECSENM1Homo sapiens
E246CKDVDECSENM1Mus musculus
E246CDDVDECAENL1Bos taurus
E246CEDVDECSENM1Macaca mulatta
G261CVNYPGGYTCY2Homo sapiens, Macaca mulatta
G261CVNFPGGYSCY1Mus musculus
G261CVNYPGGYSCY1Bos taurus
I220AVCKNIPGDFE4Homo sapiens, Mus musculus, Bos taurus, Macaca mulatta
I244KSCEDIDECSE1Homo sapiens
I244KSCKDVDECSE1Mus musculus
I244KSCDDVDECAE1Bos taurus
I244KSCEDVDECSE1Macaca mulatta
N219TAVCKNIPGDF4Homo sapiens, Mus musculus, Bos taurus, Macaca mulatta
N258AQLCVNYPGGY3Homo sapiens, Bos taurus, Macaca mulatta
N258AQLCVNFPGGY1Mus musculus
P221VCKNIPGDFEC4Homo sapiens, Mus musculus, Bos taurus, Macaca mulatta
P260LCVNYPGGYTC2Homo sapiens, Macaca mulatta
P260LCVNFPGGYSC1Mus musculus
P260LCVNYPGGYSC1Bos taurus
V202KDCKDVDECSL2Homo sapiens, Macaca mulatta
V202KDCKDLDECAL1Mus musculus
V202KDCKDVDECVL1Bos taurus
Y259QLCVNYPGGYT2Homo sapiens, Macaca mulatta
Y259QLCVNFPGGYS1Mus musculus
Y259QLCVNYPGGYS1Bos taurus


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