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 FGA
Gene summary
Basic gene Info.Gene symbolFGA
Gene namefibrinogen alpha chain
SynonymsFib2
CytomapUCSC genome browser: 4q28
Type of geneprotein-coding
RefGenesNM_000508.3,
NM_021871.2,
Descriptionfibrinogen, A alpha polypeptide
Modification date20141207
dbXrefs MIM : 134820
HGNC : HGNC
Ensembl : ENSG00000171560
HPRD : 00619
Vega : OTTHUMG00000150330
ProteinUniProt: P02671
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FGA
BioGPS: 2243
PathwayNCI Pathway Interaction Database: FGA
KEGG: FGA
REACTOME: FGA
Pathway Commons: FGA
ContextiHOP: FGA
ligand binding site mutation search in PubMed: FGA
UCL Cancer Institute: FGA
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
GO:0007160cell-matrix adhesion10903502
GO:0034116positive regulation of heterotypic cell-cell adhesion8100742
GO:0043623cellular protein complex assembly8910396
GO:0045907positive regulation of vasoconstriction15739255
GO:0045921positive regulation of exocytosis19193866
GO:0050714positive regulation of protein secretion19193866
GO:0051258protein polymerization12706644
GO:0051592response to calcium ion6777381
GO:0070374positive regulation of ERK1 and ERK2 cascade10903502
GO:0070527platelet aggregation6281794
GO:0090277positive regulation of peptide hormone secretion19193866
GO:1902042negative regulation of extrinsic apoptotic signaling pathway via death domain receptors10903502
GO:2000352negative regulation of endothelial cell apoptotic process10903502


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Ligand binding site mutations for FGA

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D791D789EOV1
D791,D793A792TSKCM1
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 FGA
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
D793A792T-1.2816097
D791A792T-1.2816097
D791D789E-0.2997526
(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 FGA from PDB

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Differential gene expression and gene-gene network for FGA
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 FGA and the right PPI network was created from samples without mutations in the LBS of FGA. 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 FGA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0019250Afibrinogenemia congenital12Biomarker, GeneticVariation
umls:C0040053Thrombosis5Biomarker, GeneticVariation
umls:C0001733Afibrinogenemia5Biomarker, GeneticVariation
umls:C1861172Venous Thromboembolism4Biomarker, GeneticVariation
umls:C0034065Pulmonary Embolism2Biomarker
umls:C0740340Amyloidosis, Familial2Biomarker
umls:C0022658Kidney Diseases2Biomarker
umls:C1260903Dysfibrinogenemia2GeneticVariation
umls:C0268389Amyloidosis, familial visceral1Biomarker, GeneticVariation
umls:C0008370Cholestasis1Biomarker
umls:C0860207Drug-Induced Liver Injury1Biomarker
umls:C3658338Drug-Related Side Effects and Adverse Reactions1Biomarker
umls:C0026640Mouth Neoplasms1Biomarker
umls:C0029456Osteoporosis1Biomarker
umls:C0398623Thrombophilia1Biomarker

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

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Pharmacological information for FGA
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
ApprovedDB00009AlteplaseBiotech
ApprovedDB00015ReteplaseBiotech
ApprovedDB00029AnistreplaseBiotech
ApprovedDB00031TenecteplaseBiotech
ApprovedDB00364SucralfateSmall molecule
InvestigationalDB04919AlfimepraseBiotech
InvestigationalDB05099AncrodSmall molecule
InvestigationalDB05675EP-2104RBiotech

Gene-centered ligand-gene interaction network

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


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Conservation information for LBS of FGA
Multiple alignments for P02671 in multiple species
LBSAA sequence# speciesSpecies


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