mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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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 F5
Gene summary
Basic gene Info.Gene symbolF5
Gene namecoagulation factor V (proaccelerin, labile factor)
SynonymsFVL|PCCF|RPRGL1|THPH2
CytomapUCSC genome browser: 1q23
Type of geneprotein-coding
RefGenesNM_000130.4,
Descriptionactivated protein c cofactorcoagulation factor Vcoagulation factor V jinjiang A2 domainfactor V Leidenproaccelerin, labile factor
Modification date20141219
dbXrefs MIM : 612309
HGNC : HGNC
HPRD : 01964
ProteinUniProt: P12259
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_F5
BioGPS: 2153
PathwayNCI Pathway Interaction Database: F5
KEGG: F5
REACTOME: F5
Pathway Commons: F5
ContextiHOP: F5
ligand binding site mutation search in PubMed: F5
UCL Cancer Institute: F5
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_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 F5

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
S2143S2143FCOAD1
M2148Y2149CCOAD1
M2148,S2146E2147KCOAD1
M2148,S2146E2147QLUAD1
W2096D2094HLUAD1
M2148Y2149COV1
C2141G2140CSKCM1
Q2113K2115RUCEC1
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 F5
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
S2146E2147Q-1.2592037
M2148E2147Q-1.2592037
S2146E2147K-1.2338093
M2148E2147K-1.2338093
C2141G2140C-0.87822363
M2148Y2149C-0.86765074
W2096D2094H-0.86068674
Q2113K2115R-0.33400995
S2143S2143F-0.14735733
(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 F5 from PDB

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Differential gene expression and gene-gene network for F5
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 F5 and the right PPI network was created from samples without mutations in the LBS of F5. 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 F5
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0042487Venous Thrombosis174Biomarker, GeneticVariation
umls:C0040038Thromboembolism171Biomarker, GeneticVariation
umls:C0040053Thrombosis101AlteredExpression, Biomarker, GeneticVariation
umls:C1861171Thrombophilia due to Activated Protein C Resistance94Biomarker, GeneticVariation
umls:C0038454Stroke70Biomarker, GeneticVariation
umls:C1861172Venous Thromboembolism49Biomarker, GeneticVariation
umls:C0027051Myocardial Infarction48Biomarker, GeneticVariation
umls:C0000809Abortion, Habitual29AlteredExpression, GeneticVariation
umls:C0007786Brain Ischemia28Biomarker, GeneticVariation
umls:C0005779Blood Coagulation Disorders24Biomarker, GeneticVariation
umls:C0035328Retinal Vein Occlusion17Biomarker, GeneticVariation
umls:C0856761Budd-Chiari Syndrome15Biomarker, GeneticVariation
umls:C0015499Factor V Deficiency12Biomarker, GeneticVariation
umls:C2584620Thrombophilia, hereditary9Biomarker, GeneticVariation
umls:C0007785Cerebral Infarction8Biomarker, GeneticVariation
umls:C0023890Liver Cirrhosis6Biomarker, GeneticVariation
umls:C0338575Sagittal Sinus Thrombosis1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for F5
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|investigationalDB05777ART-123Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of F5 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of F5
Multiple alignments for P12259 in multiple species
LBSAA sequence# speciesSpecies
C2141IVTQGCKSLSS2Mus musculus, Bos taurus
C2141IITQGCKSLSS1Homo sapiens
M2148SLSSEMYVKSY3Homo sapiens, Mus musculus, Bos taurus
Q2113RVNAWQAKANN3Homo sapiens, Mus musculus, Bos taurus
S2143TQGCKSLSSEM3Homo sapiens, Mus musculus, Bos taurus
S2146CKSLSSEMYVK3Homo sapiens, Mus musculus, Bos taurus
W2096WWGDYWEPFRA1Homo sapiens
W2096WWGDYWEPSLA1Mus musculus
W2096WWGNYWEPFLA1Bos taurus


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