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 FGB
Gene summary
Basic gene Info.Gene symbolFGB
Gene namefibrinogen beta chain
SynonymsHEL-S-78p
CytomapUCSC genome browser: 4q28
Type of geneprotein-coding
RefGenesNM_001184741.1,
NM_005141.4,
Descriptionepididymis secretory sperm binding protein Li 78pfibrinogen, B beta polypeptide
Modification date20141222
dbXrefs MIM : 134830
HGNC : HGNC
HPRD : 00620
ProteinUniProt: P02675
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FGB
BioGPS: 2244
PathwayNCI Pathway Interaction Database: FGB
KEGG: FGB
REACTOME: FGB
Pathway Commons: FGB
ContextiHOP: FGB
ligand binding site mutation search in PubMed: FGB
UCL Cancer Institute: FGB
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 FGB

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
T398A398TKIRC1
D291G290ELUAD1
L390G391ELUAD1
D413G413EOV1
Y408M409ISKCM1
D413,D411K412RSKCM1
D413,D411K412NUCEC1
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 FGB
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
(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 FGB from PDB

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Differential gene expression and gene-gene network for FGB
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 FGB and the right PPI network was created from samples without mutations in the LBS of FGB. 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 FGB
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0019250Afibrinogenemia congenital6Biomarker, GeneticVariation
umls:C0029456Osteoporosis1Biomarker
umls:C0030567Parkinson Disease1Biomarker

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

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Pharmacological information for FGB
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
ApprovedDB00364SucralfateSmall molecule
InvestigationalDB04919AlfimepraseBiotech

Gene-centered ligand-gene interaction network

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


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Conservation information for LBS of FGB
Multiple alignments for P02675 in multiple species
LBSAA sequence# speciesSpecies
C437WWYNRCHAANP4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
D291QDGSVDFGRKW3Homo sapiens, Mus musculus, Rattus norvegicus
D291QDGSVNFGRAW1Gallus gallus
D411STYDRDNDGWL2Homo sapiens, Gallus gallus
D411STYDRDNDGWV2Mus musculus, Rattus norvegicus
D413YDRDNDGWVTT2Mus musculus, Rattus norvegicus
D413YDRDNDGWLTS1Homo sapiens
D413YDRDNDGWLTT1Gallus gallus
D428QCSKEDGGGWW4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
D462SKHGTDDGVVW2Mus musculus, Rattus norvegicus
D462AKHGTDDGVVW1Homo sapiens
D462AKHGTDDGIVW1Gallus gallus
E393SQLVGENRTMT2Mus musculus, Rattus norvegicus
E393SQLMGENRTMT1Homo sapiens
E393SQLYGENRTMT1Gallus gallus
E427KQCSKEDGGGW4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G293GSVDFGRKWDP3Homo sapiens, Mus musculus, Rattus norvegicus
G293GSVNFGRAWDE1Gallus gallus
H438WYNRCHAANPN4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K422TTDPRKQCSKE3Gallus gallus, Mus musculus, Rattus norvegicus
K422TSDPRKQCSKE1Homo sapiens
L390DGASQLMGENR1Homo sapiens
L390EGASQLYGENR1Gallus gallus
L390DGASQLVGENR1Mus musculus
L390EGASQLVGENR1Rattus norvegicus
L416DNDGWVTTDPR2Mus musculus, Rattus norvegicus
L416DNDGWLTSDPR1Homo sapiens
L416DNDGWLTTDPR1Gallus gallus
M397GENRTMTIHNG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
M468DGVVWMNWKGS3Homo sapiens, Mus musculus, Rattus norvegicus
M468DGIVWMNWKGS1Gallus gallus
N394QLVGENRTMTI2Mus musculus, Rattus norvegicus
N394QLMGENRTMTI1Homo sapiens
N394QLYGENRTMTI1Gallus gallus
R294SVDFGRKWDPY3Homo sapiens, Mus musculus, Rattus norvegicus
R294SVNFGRAWDEY1Gallus gallus
R436GWWYNRCHAAN4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
T398ENRTMTIHNGM4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
T417NDGWVTTDPRK2Mus musculus, Rattus norvegicus
T417NDGWLTSDPRK1Homo sapiens
T417NDGWLTTDPRK1Gallus gallus
T461MSKHGTDDGVV2Mus musculus, Rattus norvegicus
T461MAKHGTDDGVV1Homo sapiens
T461MAKHGTDDGIV1Gallus gallus
W415RDNDGWVTTDP2Mus musculus, Rattus norvegicus
W415RDNDGWLTSDP1Homo sapiens
W415RDNDGWLTTDP1Gallus gallus
W474NWKGSWYSMRR2Mus musculus, Rattus norvegicus
W474NWKGSWYSMRK1Homo sapiens
W474NWKGSWYSMKK1Gallus gallus
Y408MFFSTYDRDND3Homo sapiens, Mus musculus, Rattus norvegicus
Y408MYFSTYDRDND1Gallus gallus


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