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mutLBSgeneDB |
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| Gene summary for F5 |
 Gene summary |
| Basic gene Info. | Gene symbol | F5 |
| Gene name | coagulation factor V (proaccelerin, labile factor) | |
| Synonyms | FVL|PCCF|RPRGL1|THPH2 | |
| Cytomap | UCSC genome browser: 1q23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000130.4, | |
| Description | activated protein c cofactorcoagulation factor Vcoagulation factor V jinjiang A2 domainfactor V Leidenproaccelerin, labile factor | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 612309 | |
| HGNC : HGNC | ||
| HPRD : 01964 | ||
| Protein | UniProt: P12259 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_F5 | |
| BioGPS: 2153 | ||
| Pathway | NCI Pathway Interaction Database: F5 | |
| KEGG: F5 | ||
| REACTOME: F5 | ||
| Pathway Commons: F5 | ||
| Context | iHOP: F5 | |
| ligand binding site mutation search in PubMed: F5 | ||
| UCL Cancer Institute: F5 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_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 F5 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S2143 | S2143F | COAD | 1 | M2148 | Y2149C | COAD | 1 | M2148,S2146 | E2147K | COAD | 1 | M2148,S2146 | E2147Q | LUAD | 1 | W2096 | D2094H | LUAD | 1 | M2148 | Y2149C | OV | 1 | C2141 | G2140C | SKCM | 1 | Q2113 | K2115R | 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 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 |
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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 | S2146 | E2147Q | -1.2592037 | M2148 | E2147Q | -1.2592037 | S2146 | E2147K | -1.2338093 | M2148 | E2147K | -1.2338093 | C2141 | G2140C | -0.87822363 | M2148 | Y2149C | -0.86765074 | W2096 | D2094H | -0.86068674 | Q2113 | K2115R | -0.33400995 | S2143 | S2143F | -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) |
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| Phenotype information for F5 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0042487 | Venous Thrombosis | 174 | Biomarker, GeneticVariation |
| umls:C0040038 | Thromboembolism | 171 | Biomarker, GeneticVariation |
| umls:C0040053 | Thrombosis | 101 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C1861171 | Thrombophilia due to Activated Protein C Resistance | 94 | Biomarker, GeneticVariation |
| umls:C0038454 | Stroke | 70 | Biomarker, GeneticVariation |
| umls:C1861172 | Venous Thromboembolism | 49 | Biomarker, GeneticVariation |
| umls:C0027051 | Myocardial Infarction | 48 | Biomarker, GeneticVariation |
| umls:C0000809 | Abortion, Habitual | 29 | AlteredExpression, GeneticVariation |
| umls:C0007786 | Brain Ischemia | 28 | Biomarker, GeneticVariation |
| umls:C0005779 | Blood Coagulation Disorders | 24 | Biomarker, GeneticVariation |
| umls:C0035328 | Retinal Vein Occlusion | 17 | Biomarker, GeneticVariation |
| umls:C0856761 | Budd-Chiari Syndrome | 15 | Biomarker, GeneticVariation |
| umls:C0015499 | Factor V Deficiency | 12 | Biomarker, GeneticVariation |
| umls:C2584620 | Thrombophilia, hereditary | 9 | Biomarker, GeneticVariation |
| umls:C0007785 | Cerebral Infarction | 8 | Biomarker, GeneticVariation |
| umls:C0023890 | Liver Cirrhosis | 6 | Biomarker, GeneticVariation |
| 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 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational|withdrawn | DB00055 | Drotrecogin alfa | Biotech |  |
| Approved|investigational | DB05777 | ART-123 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of F5 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 F5 |
| Multiple alignments for P12259 in multiple species |
| LBS | AA sequence | # species | Species | C2141 | IVTQGCKSLSS | 2 | Mus musculus, Bos taurus | C2141 | IITQGCKSLSS | 1 | Homo sapiens | M2148 | SLSSEMYVKSY | 3 | Homo sapiens, Mus musculus, Bos taurus | Q2113 | RVNAWQAKANN | 3 | Homo sapiens, Mus musculus, Bos taurus | S2143 | TQGCKSLSSEM | 3 | Homo sapiens, Mus musculus, Bos taurus | S2146 | CKSLSSEMYVK | 3 | Homo sapiens, Mus musculus, Bos taurus | W2096 | WWGDYWEPFRA | 1 | Homo sapiens | W2096 | WWGDYWEPSLA | 1 | Mus musculus | W2096 | WWGNYWEPFLA | 1 | Bos taurus |
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