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 F8
Gene summary
Basic gene Info.Gene symbolF8
Gene namecoagulation factor VIII, procoagulant component
CytomapUCSC genome browser: Xq28
Type of geneprotein-coding
Descriptionantihemophilic factorcoagulation factor VIIIcoagulation factor VIIIcfactor VIII F8B
Modification date20141222
dbXrefs MIM : 300841
Ensembl : ENSG00000185010
HPRD : 02384
Vega : OTTHUMG00000022688
ProteinUniProt: P00451
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_F8
BioGPS: 2157
PathwayNCI Pathway Interaction Database: F8
Pathway Commons: F8
ContextiHOP: F8
ligand binding site mutation search in PubMed: F8
UCL Cancer Institute: F8
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for F8

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for F8
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 F8 from PDB

Differential gene expression and gene-gene network for F8
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 F8 and the right PPI network was created from samples without mutations in the LBS of F8. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for F8
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0019069Hemophilia A189AlteredExpression, Biomarker, GeneticVariation
umls:C1366370HEMOPHILIA A59Biomarker, GeneticVariation
umls:C0042487Venous Thrombosis7AlteredExpression, Biomarker, GeneticVariation
umls:C0398623Thrombophilia3Biomarker, GeneticVariation
umls:C0004364Autoimmune Diseases2Biomarker
umls:C0272325Factor 8 deficiency, acquired1Therapeutic

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

Pharmacological information for F8
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|investigational|withdrawnDB00055Drotrecogin alfaBiotech
ApprovedDB00100Coagulation Factor IXBiotech

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of F8 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of F8
Multiple alignments for P00451 in multiple species
LBSAA sequence# speciesSpecies
A127VSYWKASEGAE2Homo sapiens, Canis lupus familiaris
A127VSYWKASEGDE1Mus musculus
A131KASEGAEYDDQ1Homo sapiens
A131KASEGDEYEDQ1Mus musculus
A131KASEGAEYEDQ1Canis lupus familiaris
C2019IWRVECLIGEH2Homo sapiens, Mus musculus
C2019IWRIECLIGEH1Canis lupus familiaris
C329QFLLFCHISSH2Homo sapiens, Mus musculus
C329QFLLFCHIPSH1Canis lupus familiaris
D135GAEYDDQTSQR1Homo sapiens
D135GDEYEDQTSQM1Mus musculus
D135GAEYEDQTSQK1Canis lupus familiaris
D144QREKEDDKVFP1Homo sapiens
D144QMEKEDDKVFP1Mus musculus
D144QKEKEDDNVIP1Canis lupus familiaris
D145REKEDDKVFPG1Homo sapiens
D145MEKEDDKVFPG1Mus musculus
D145KEKEDDNVIPG1Canis lupus familiaris
D561VNMERDLASGL1Homo sapiens
D561INPERDLASGL1Mus musculus
D561INLERDLASGL1Canis lupus familiaris
E129YWKASEGAEYD1Homo sapiens
E129YWKASEGDEYE1Mus musculus
E129YWKASEGAEYE1Canis lupus familiaris
E141QTSQREKEDDK1Homo sapiens
E141QTSQMEKEDDK1Mus musculus
E141QTSQKEKEDDN1Canis lupus familiaris
E559SFVNMERDLAS1Homo sapiens
E559SFINPERDLAS1Mus musculus
E559SFINLERDLAS1Canis lupus familiaris
F555RYYSSFVNMER1Homo sapiens
F555RYYSSFINPER1Mus musculus
F555RYYSSFINLER1Canis lupus familiaris
H1973SNENIHSIHFS2Homo sapiens, Canis lupus familiaris
H1973NNENIQSIHFS1Mus musculus
H2024CLIGEHLQAGM2Mus musculus, Canis lupus familiaris
H2024CLIGEHLHAGM1Homo sapiens
H2334PQSWVHQIALR1Homo sapiens
H2334PQIWEHQIALR1Mus musculus
H2334PQSWAHHIALR1Canis lupus familiaris
H286TTPEVHSIFLE2Homo sapiens, Canis lupus familiaris
H286TTPEIHSIFLE1Mus musculus
H334CHISSHQHDGM1Homo sapiens
H334CHISSHKHDGM1Mus musculus
H334CHIPSHQHDGM1Canis lupus familiaris
I2021RVECLIGEHLH1Homo sapiens
I2021RVECLIGEHLQ1Mus musculus
I2021RIECLIGEHLQ1Canis lupus familiaris
I331LLFCHISSHQH1Homo sapiens
I331LLFCHISSHKH1Mus musculus
I331LLFCHIPSHQH1Canis lupus familiaris
K126GVSYWKASEGA2Homo sapiens, Canis lupus familiaris
K126GVSYWKASEGD1Mus musculus
K142TSQREKEDDKV1Homo sapiens
K142TSQMEKEDDKV1Mus musculus
K142TSQKEKEDDNV1Canis lupus familiaris
K2277TSMYVKEFLIS1Homo sapiens
K2277TSMFVKEFLIS1Mus musculus
K2277ISMYVKEFLIS1Canis lupus familiaris
L562NMERDLASGLI1Homo sapiens
L562NPERDLASGLI1Mus musculus
L562NLERDLASGLI1Canis lupus familiaris
M339HQHDGMEAYVK2Homo sapiens, Canis lupus familiaris
M339HKHDGMEAYVK1Mus musculus
M558SSFVNMERDLA1Homo sapiens
M558SSFINPERDLA1Mus musculus
M558SSFINLERDLA1Canis lupus familiaris
N2191MGCDLNSCSMP1Homo sapiens
N2191MGCDLNSCSIP1Mus musculus
N2191LGCDFNSCSMP1Canis lupus familiaris
N557YSSFVNMERDL1Homo sapiens
N557YSSFINPERDL1Mus musculus
N557YSSFINLERDL1Canis lupus familiaris
Q2241NAWRPQVNNPK1Homo sapiens
Q2241NAWRPQVNDPK1Mus musculus
Q2241NAWRPQANNPK1Canis lupus familiaris
Q2330LRIHPQSWVHQ1Homo sapiens
Q2330LRIHPQIWEHQ1Mus musculus
Q2330VRLHPQSWAHH1Canis lupus familiaris
R560FVNMERDLASG1Homo sapiens
R560FINPERDLASG1Mus musculus
R560FINLERDLASG1Canis lupus familiaris
S128SYWKASEGAEY2Homo sapiens, Canis lupus familiaris
S128SYWKASEGDEY1Mus musculus
S2194DLNSCSMPLGM1Homo sapiens
S2194DLNSCSIPLGM1Mus musculus
S2194DFNSCSMPLGM1Canis lupus familiaris
S2331RIHPQSWVHQI1Homo sapiens
S2331RIHPQIWEHQI1Mus musculus
S2331RLHPQSWAHHI1Canis lupus familiaris
S287TPEVHSIFLEG2Homo sapiens, Canis lupus familiaris
S287TPEIHSIFLEG1Mus musculus
S554TRYYSSFVNME1Homo sapiens
S554TRYYSSFINPE1Mus musculus
S554TRYYSSFINLE1Canis lupus familiaris
T137EYDDQTSQREK1Homo sapiens
T137EYEDQTSQMEK1Mus musculus
T137EYEDQTSQKEK1Canis lupus familiaris
T2260KTMKVTGVTTQ1Homo sapiens
T2260KTMKVTGIITQ1Mus musculus
T2260KTMKVTGITTQ1Canis lupus familiaris
W2332IHPQSWVHQIA1Homo sapiens
W2332IHPQIWEHQIA1Mus musculus
W2332LHPQSWAHHIA1Canis lupus familiaris
Y2214ITASSYFTNMF2Homo sapiens, Mus musculus
Y2214ITASSYLSSML1Canis lupus familiaris

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