mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us
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 F9
Gene summary
Basic gene Info.Gene symbolF9
Gene namecoagulation factor IX
SynonymsFIX|HEMB|P19|PTC|THPH8
CytomapUCSC genome browser: Xq27.1-q27.2
Type of geneprotein-coding
RefGenesNM_000133.3,
DescriptionChristmas factorF9 p22FIX F9factor 9factor IX F9plasma thromboplastic componentplasma thromboplastin component
Modification date20141219
dbXrefs MIM : 300746
HGNC : HGNC
Ensembl : ENSG00000101981
HPRD : 02385
Vega : OTTHUMG00000022536
ProteinUniProt: P00740
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_F9
BioGPS: 2158
PathwayNCI Pathway Interaction Database: F9
KEGG: F9
REACTOME: F9
Pathway Commons: F9
ContextiHOP: F9
ligand binding site mutation search in PubMed: F9
UCL Cancer Institute: F9
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


Top
Ligand binding site mutations for F9

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D110K109RCOAD3
D110K109ECOAD1
R358G357VCOAD1
E281G280SGBM1
E281A279TGBM1
E281G280CHNSC1
N283I284FHNSC1
S411,G409D410ELUAD1
S411S411RLUAD1
H361G363RLUAD1
D110K109NOV1
T386T386ISTAD1
T386,F388K387RSTAD1
N113N113SUCEC1
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.


Top
Protein structure related information for F9
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
R358G357V0.13116548
D110K109N-1.4129135
T386T386I-1.0046439
D110K109E-0.98023104
D110K109R-0.95362221
N283I284F-0.87379515
N113N113S-0.86361352
T386K387R-0.73605398
F388K387R-0.73605398
E281G280S-0.72178181
S411D410E-0.63444318
G409D410E-0.63444318
E281G280C-0.4441431
S411S411R-0.3538041
E281A279T-0.15556913
H361G363R-0.089388476
(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 F9 from PDB
PDB IDPDB titlePDB structure
1CFINMR STRUCTURE OF CALCIUM ION-BOUND GAMMA-CARBOXY-GLUTAMIC ACID-RICH DOMAIN OF FACTOR IX

Top
Differential gene expression and gene-gene network for F9
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 F9 and the right PPI network was created from samples without mutations in the LBS of F9. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for F9
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0008533Hemophilia B291AlteredExpression, Biomarker, GeneticVariation
umls:C0019069Hemophilia A79Biomarker, GeneticVariation
umls:C0040053Thrombosis1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
213664A279TPathogenicGermlineGeneReviews:NBK1495
MedGen:C0008533
OMIM:306900
Orphanet:ORPHA98879
SNOMED CT:41788008

Top
Pharmacological information for F9
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|investigationalDB00025Antihemophilic Factor (Recombinant)Biotech
Approved|nutraceuticalDB00170MenadioneSmall molecule
InvestigationalDB05131TTP889Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of F9 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


Top
Conservation information for LBS of F9
Multiple alignments for P00740 in multiple species
LBSAA sequence# speciesSpecies
C407GGRDSCQGDSG2Homo sapiens, Pan troglodytes
C407GGKDSCEGDSG2Mus musculus, Rattus norvegicus
C407GGKDTCGGDSG1Gallus gallus
C407GGKDSCQGDSG1Canis lupus familiaris
C435SWGEECAMKGK5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
C435SWGEECAKPGK1Gallus gallus
D110GGSCKDDINSY2Homo sapiens, Pan troglodytes
D110GAVCKDGVSSY1Gallus gallus
D110GGICKDDISSY1Mus musculus
D110GGICKDDINSY1Rattus norvegicus
D110DGVCKDDINSY1Canis lupus familiaris
D111GSCKDDINSYE2Homo sapiens, Pan troglodytes
D111AVCKDGVSSYE1Gallus gallus
D111GICKDDISSYE1Mus musculus
D111GICKDDINSYE1Rattus norvegicus
D111GVCKDDINSYE1Canis lupus familiaris
D405HEGGRDSCQGD2Homo sapiens, Pan troglodytes
D405REGGKDSCEGD2Mus musculus, Rattus norvegicus
D405TAGGKDTCGGD1Gallus gallus
D405HEGGKDSCQGD1Canis lupus familiaris
D93WKQYVDGDQCE5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
D93WKIYIDGDQCN1Gallus gallus
E281TVVAGEHNIEE2Homo sapiens, Pan troglodytes
E281TAVAGEYNTKE1Gallus gallus
E281EVVAGEYNIDK1Mus musculus
E281EVVAGEHNIDE1Rattus norvegicus
E281TIVAGEHNTEK1Canis lupus familiaris
E286EHNIEETEHTE2Homo sapiens, Pan troglodytes
E286EYNTKEDDHTE1Gallus gallus
E286EYNIDKKEDTE1Mus musculus
E286EHNIDEKEDTE1Rattus norvegicus
E286EHNTEKREHTE1Canis lupus familiaris
E288NIEETEHTEQK2Homo sapiens, Pan troglodytes
E288NTKEDDHTEQR1Gallus gallus
E288NIDKKEDTEQR1Mus musculus
E288NIDEKEDTEQR1Rattus norvegicus
E288NTEKREHTEQK1Canis lupus familiaris
E291ETEHTEQKRNV2Homo sapiens, Pan troglodytes
E291EDDHTEQRRQV1Gallus gallus
E291KKEDTEQRRNV1Mus musculus
E291EKEDTEQRRNV1Rattus norvegicus
E291KREHTEQKRNV1Canis lupus familiaris
E433IISWGEECAMK5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
E433VTSWGEECAKP1Gallus gallus
E434ISWGEECAMKG5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
E434TSWGEECAKPG1Gallus gallus
E98DGDQCESNPCL5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
E98DGDQCNSNPCK1Gallus gallus
F388LRSTKFTIYNN3Homo sapiens, Pan troglodytes, Canis lupus familiaris
F388LKSTSTTILHS1Gallus gallus
F388LRSTTFTIYNN1Mus musculus
F388LRSTKFSIYNN1Rattus norvegicus
G409RDSCQGDSGGP2Homo sapiens, Pan troglodytes
G409KDSCEGDSGGP2Mus musculus, Rattus norvegicus
G409KDTCGGDSGGP1Gallus gallus
G409KDSCQGDSGGP1Canis lupus familiaris
G432GIISWGEECAM5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
G432GVTSWGEECAK1Gallus gallus
G442MKGKYGIYTKV5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
G442KPGKYGIYTKV1Gallus gallus
G94KQYVDGDQCES5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
G94KIYIDGDQCNS1Gallus gallus
H267IVTAAHCLKPG2Mus musculus, Rattus norvegicus
H267IVTAAHCVETG1Homo sapiens
H267VVTAAHCLEPG1Gallus gallus
H267IVTAAHCVDTG1Pan troglodytes
H267VVTAAHCIEPD1Canis lupus familiaris
H361WGRVFHKGRSA2Homo sapiens, Pan troglodytes
H361WGKVFNKGRQA2Mus musculus, Rattus norvegicus
H361WGSMLYRGRSA1Gallus gallus
H361WGRVFNKGRSA1Canis lupus familiaris
I112SCKDDINSYEC2Homo sapiens, Pan troglodytes
I112VCKDGVSSYEC1Gallus gallus
I112ICKDDISSYEC1Mus musculus
I112ICKDDINSYEC1Rattus norvegicus
I112VCKDDINSYEC1Canis lupus familiaris
I429FLTGIISWGEE5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
I429FLTGVTSWGEE1Gallus gallus
I443KGKYGIYTKVS5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
I443PGKYGIYTKVA1Gallus gallus
K311NAAINKYNHDI2Homo sapiens, Pan troglodytes
K311NATINKYSHDI2Mus musculus, Rattus norvegicus
K311NRTRNKHHNDI1Gallus gallus
K311NATINKYNHDI1Canis lupus familiaris
K440CAMKGKYGIYT5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
K440CAKPGKYGIYT1Gallus gallus
N113CKDDINSYECW4Homo sapiens, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
N113CKDGVSSYECM1Gallus gallus
N113CKDDISSYECW1Mus musculus
N283VAGEHNIEETE2Homo sapiens, Pan troglodytes
N283VAGEYNTKEDD1Gallus gallus
N283VAGEYNIDKKE1Mus musculus
N283VAGEHNIDEKE1Rattus norvegicus
N283VAGEHNTEKRE1Canis lupus familiaris
N310YNAAINKYNHD2Homo sapiens, Pan troglodytes
N310YNATINKYSHD2Mus musculus, Rattus norvegicus
N310YNRTRNKHHND1Gallus gallus
N310YNATINKYNHD1Canis lupus familiaris
Q408GRDSCQGDSGG2Homo sapiens, Pan troglodytes
Q408GKDSCEGDSGG2Mus musculus, Rattus norvegicus
Q408GKDTCGGDSGG1Gallus gallus
Q408GKDSCQGDSGG1Canis lupus familiaris
Q96YVDGDQCESNP5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
Q96YIDGDQCNSNP1Gallus gallus
R358VSGWGRVFHKG2Homo sapiens, Pan troglodytes
R358VSGWGKVFNKG2Mus musculus, Rattus norvegicus
R358VSGWGSMLYRG1Gallus gallus
R358VSGWGRVFNKG1Canis lupus familiaris
S385ATCLRSTKFTI3Homo sapiens, Pan troglodytes, Canis lupus familiaris
S385VTCLKSTSTTI1Gallus gallus
S385ATCLRSTTFTI1Mus musculus
S385ATCLRSTKFSI1Rattus norvegicus
S406EGGRDSCQGDS2Homo sapiens, Pan troglodytes
S406EGGKDSCEGDS2Mus musculus, Rattus norvegicus
S406AGGKDTCGGDS1Gallus gallus
S406EGGKDSCQGDS1Canis lupus familiaris
S411SCQGDSGGPHV3Homo sapiens, Pan troglodytes, Canis lupus familiaris
S411SCEGDSGGPHV2Mus musculus, Rattus norvegicus
S411TCGGDSGGPYT1Gallus gallus
S430LTGIISWGEEC5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
S430LTGVTSWGEEC1Gallus gallus
S99GDQCESNPCLN5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
S99GDQCNSNPCKN1Gallus gallus
T287HNIEETEHTEQ2Homo sapiens, Pan troglodytes
T287YNTKEDDHTEQ1Gallus gallus
T287YNIDKKEDTEQ1Mus musculus
T287HNIDEKEDTEQ1Rattus norvegicus
T287HNTEKREHTEQ1Canis lupus familiaris
T386TCLRSTKFTIY3Homo sapiens, Pan troglodytes, Canis lupus familiaris
T386TCLKSTSTTIL1Gallus gallus
T386TCLRSTTFTIY1Mus musculus
T386TCLRSTKFSIY1Rattus norvegicus
W431TGIISWGEECA5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
W431TGVTSWGEECA1Gallus gallus
Y312AAINKYNHDIA2Homo sapiens, Pan troglodytes
Y312ATINKYSHDIA2Mus musculus, Rattus norvegicus
Y312RTRNKHHNDIA1Gallus gallus
Y312ATINKYNHDIA1Canis lupus familiaris
Y441AMKGKYGIYTK5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris
Y441AKPGKYGIYTK1Gallus gallus


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas