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 F11
Gene summary
Basic gene Info.Gene symbolF11
Gene namecoagulation factor XI
SynonymsFXI
CytomapUCSC genome browser: 4q35
Type of geneprotein-coding
RefGenesNM_000128.3,
NM_019559.2,
DescriptionPTAplasma thromboplastin antecedent
Modification date20141207
dbXrefs MIM : 264900
HGNC : HGNC
HPRD : 07524
ProteinUniProt: P03951
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_F11
BioGPS: 2160
PathwayNCI Pathway Interaction Database: F11
KEGG: F11
REACTOME: F11
Pathway Commons: F11
ContextiHOP: F11
ligand binding site mutation search in PubMed: F11
UCL Cancer Institute: F11
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
GO:0031639plasminogen activation89876
GO:0051919positive regulation of fibrinolysis89876


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Ligand binding site mutations for F11

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
T593G591SBLCA1
K582H583LLUAD1
Y521W519SLUAD1
P502S503CLUSC1
T593G591SSKCM1
R497R497LSKCM1
Y608T609ISKCM1
E476G478VSTAD1
F461S459YUCEC1
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 F11
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
P502S503C-1.3254277
Y521W519S-1.1513368
F461S459Y-0.81240244
T593G591S-0.79714153
R497R497L-0.66269801
E476G478V-0.48308863
Y608T609I-0.42732014
K582H583L-0.012472123
(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 F11 from PDB

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Differential gene expression and gene-gene network for F11
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 F11 and the right PPI network was created from samples without mutations in the LBS of F11. 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 F11
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0015523Factor XI Deficiency35Biomarker, GeneticVariation
umls:C0020538Hypertension1Biomarker

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

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Pharmacological information for F11
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
ApprovedDB00100Coagulation Factor IXBiotech
ExperimentalDB070223-HYDROXYPROPYL 3-[({7-[AMINO(IMINO)METHYL]-1-NAPHTHYL}AMINO)CARBONYL]BENZENESULFONATESmall molecule
ExperimentalDB07023(1R)-2-{[AMINO(IMINO)METHYL]AMINO}-1-{4-[(4R)-4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL]PHENYL}ETHYL NICOTINATESmall molecule
ExperimentalDB07071(R)-1-(4-(4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL)PHENETHYL)GUANIDINESmall molecule
ExperimentalDB070746-CARBAMIMIDOYL-4-(3-HYDROXY-2-METHYL-BENZOYLAMINO)-NAPHTHALENE-2-CARBOXYLIC ACID METHYL ESTERSmall molecule
ExperimentalDB07077(R)-1-(4-(4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL)PHENYL)GUANIDINESmall molecule
ExperimentalDB07212N-(7-CARBAMIMIDOYL-NAPHTHALEN-1-YL)-3-HYDROXY-2-METHYL-BENZAMIDESmall molecule
ExperimentalDB072994-METHYL-PENTANOIC ACID {1-[4-GUANIDINO-1-(THIAZOLE-2-CARBONYL)-BUTYLCARBAMOYL]-2-METHYL-PROPYL}-AMIDESmall molecule
ExperimentalDB07887(R)-1-(4-(4-(HYDROXYMETHYL)-1,3,2-DIOXABOROLAN-2-YL)BENZYL)GUANIDINESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of F11 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
O58{4-[(N-{3-[5-CHLORO-2-(1H-TETRAZOL-1-YL)PHENYL]PROPANOYL}-L-PHENYLALANYL)AMINO]PHENYL}ACETICACID3sorAY521 T593 Y608
O61N-[(2S)-1-({2-[5-CHLORO-2-(1H-TETRAZOL-1-YL)PHENYL]ETHYL}AMINO)-1-OXO-3-PHENYLPROPAN-2-YL]-3-OXO-3,4-DIHYDRO-2H-1,4-BENZOTHIAZINE-7-CARBOXAMIDE3sosAY521 T593 Y608


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Conservation information for LBS of F11
Multiple alignments for P03951 in multiple species
LBSAA sequence# speciesSpecies
A475DQYKMAESGYD1Homo sapiens
A475DQYTTAESGYD1Mus musculus
A475DQYEKAESGYD1Bos taurus
A570EGGKDACKGDS2Homo sapiens, Bos taurus
A570EGGKDTCKGDS1Mus musculus
C416TQRHLCGGSII1Homo sapiens
C416SQGHLCGGSII1Mus musculus
C416TQRHLCGGAII1Bos taurus
C432LTAAHCFYGVE1Homo sapiens
C432LTAAHCFSGIE1Mus musculus
C432LTAAHCFNEVK1Bos taurus
C500SQRPICLPSKG1Homo sapiens
C500FQRPICLPSKG1Mus musculus
C500SQWPICLPSKG1Bos taurus
C571GGKDACKGDSG2Homo sapiens, Bos taurus
C571GGKDTCKGDSG1Mus musculus
C599SWGEGCAQRER1Homo sapiens
C599SWGEGCGQKER1Mus musculus
C599SWGEGCGQRER1Bos taurus
D569REGGKDACKGD2Homo sapiens, Bos taurus
D569KEGGKDTCKGD1Mus musculus
D574DACKGDSGGPL2Homo sapiens, Bos taurus
D574DTCKGDSGGPL1Mus musculus
E476QYKMAESGYDI1Homo sapiens
E476QYTTAESGYDI1Mus musculus
E476QYEKAESGYDI1Bos taurus
E597ITSWGEGCAQR1Homo sapiens
E597ITSWGEGCGQK1Mus musculus
E597ITSWGEGCGQR1Bos taurus
F461EDTSFFGVQEI2Homo sapiens, Bos taurus
F461EGTAFFRVQEM1Mus musculus
G573KDACKGDSGGP2Homo sapiens, Bos taurus
G573KDTCKGDSGGP1Mus musculus
G596GITSWGEGCGQ2Mus musculus, Bos taurus
G596GITSWGEGCAQ1Homo sapiens
G598TSWGEGCAQRE1Homo sapiens
G598TSWGEGCGQKE1Mus musculus
G598TSWGEGCGQRE1Bos taurus
G606QRERPGVYTNV1Homo sapiens
G606QKERPGVYTNV1Mus musculus
G606QRERPGVYSNV1Bos taurus
H414SPTQRHLCGGS1Homo sapiens
H414--SQGHLCGGS1Mus musculus
H414SPTQRHLCGGA1Bos taurus
H431ILTAAHCFYGV1Homo sapiens
H431ILTAAHCFSGI1Mus musculus
H431ILTAAHCFNEV1Bos taurus
H552KRYRGHKITHK1Homo sapiens
H552TRYRRHKITNK1Mus musculus
H552AGYREHRITSK1Bos taurus
I421CGGSIIGNQWI2Homo sapiens, Mus musculus
I421CGGAIIGNQWI1Bos taurus
I499DSQRPICLPSK1Homo sapiens
I499DFQRPICLPSK1Mus musculus
I499DSQWPICLPSK1Bos taurus
I528KLRDKIQNTLQ2Homo sapiens, Bos taurus
I528ALRGEVQSTLQ1Mus musculus
K572GKDACKGDSGG2Homo sapiens, Bos taurus
K572GKDTCKGDSGG1Mus musculus
K582GPLSCKHNEVW2Homo sapiens, Bos taurus
K582GPLSCKYNGVW1Mus musculus
L415PTQRHLCGGSI1Homo sapiens
L415-SQGHLCGGSI1Mus musculus
L415PTQRHLCGGAI1Bos taurus
L501QRPICLPSKGD2Homo sapiens, Mus musculus
L501QWPICLPSKGD1Bos taurus
L524WGYRKLRDKIQ2Homo sapiens, Bos taurus
L524WGYTALRGEVQ1Mus musculus
L619YVDWILEKTQA1Homo sapiens
L619YVDWILEKTQT1Mus musculus
L619YVDWILEKTQG1Bos taurus
N423GSIIGNQWILT2Homo sapiens, Mus musculus
N423GAIIGNQWILT1Bos taurus
N530RDKIQNTLQKA2Homo sapiens, Bos taurus
N530RGEVQSTLQKA1Mus musculus
P498TDSQRPICLPS1Homo sapiens
P498TDFQRPICLPS1Mus musculus
P498TDSQWPICLPS1Bos taurus
P502RPICLPSKGDR2Homo sapiens, Mus musculus
P502WPICLPSKGDR1Bos taurus
Q424SIIGNQWILTA2Homo sapiens, Mus musculus
Q424AIIGNQWILTA1Bos taurus
Q464SFFGVQEIIIH2Homo sapiens, Bos taurus
Q464AFFRVQEMIIH1Mus musculus
Q623ILEKTQAV1Homo sapiens
Q623ILEKTQTV1Mus musculus
Q623ILEKTQGP1Bos taurus
R413TSPTQRHLCGG2Homo sapiens, Bos taurus
R413---SQGHLCGG1Mus musculus
R497YTDSQRPICLP1Homo sapiens
R497YTDFQRPICLP1Mus musculus
R497YTDSQWPICLP1Bos taurus
S575ACKGDSGGPLS2Homo sapiens, Bos taurus
S575TCKGDSGGPLS1Mus musculus
S594LVGITSWGEGC3Homo sapiens, Mus musculus, Bos taurus
T593HLVGITSWGEG3Homo sapiens, Mus musculus, Bos taurus
T622WILEKTQAV1Homo sapiens
T622WILEKTQTV1Mus musculus
T622WILEKTQGP1Bos taurus
V586CKHNEVWHLVG2Homo sapiens, Bos taurus
V586CKYNGVWHLVG1Mus musculus
V607RERPGVYTNVV1Homo sapiens
V607KERPGVYTNVA1Mus musculus
V607RERPGVYSNVV1Bos taurus
V615NVVEYVDWILE2Homo sapiens, Bos taurus
V615NVAKYVDWILE1Mus musculus
W587KHNEVWHLVGI2Homo sapiens, Bos taurus
W587KYNGVWHLVGI1Mus musculus
W595VGITSWGEGCG2Mus musculus, Bos taurus
W595VGITSWGEGCA1Homo sapiens
Y434AAHCFYGVESP1Homo sapiens
Y434AAHCFSGIETP1Mus musculus
Y434AAHCFNEVKSP1Bos taurus
Y472IIHDQYKMAES1Homo sapiens
Y472IIHDQYTTAES1Mus musculus
Y472IIHDQYEKAES1Bos taurus
Y521VTGWGYRKLRD2Homo sapiens, Bos taurus
Y521VTGWGYTALRG1Mus musculus
Y608ERPGVYTNVVE1Homo sapiens
Y608ERPGVYTNVAK1Mus musculus
Y608ERPGVYSNVVE1Bos taurus


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