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mutLBSgeneDB |
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| Gene summary for F8 |
 Gene summary |
| Basic gene Info. | Gene symbol | F8 |
| Gene name | coagulation factor VIII, procoagulant component | |
| Synonyms | AHF|DXS1253E|F8B|F8C|FVIII|HEMA | |
| Cytomap | UCSC genome browser: Xq28 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000132.3, NM_019863.2, | |
| Description | antihemophilic factorcoagulation factor VIIIcoagulation factor VIIIcfactor VIII F8B | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 300841 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000185010 | ||
| HPRD : 02384 | ||
| Vega : OTTHUMG00000022688 | ||
| Protein | UniProt: P00451 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_F8 | |
| BioGPS: 2157 | ||
| Pathway | NCI Pathway Interaction Database: F8 | |
| KEGG: F8 | ||
| REACTOME: F8 | ||
| Pathway Commons: F8 | ||
| Context | iHOP: F8 | |
| ligand binding site mutation search in PubMed: F8 | ||
| UCL Cancer Institute: F8 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for F8 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K126 | W125C | HNSC | 1 | S128 | S128F | LUAD | 1 | T2260 | K2258R | LUAD | 1 | W2332,H2334 | V2333E | LUAD | 1 | H334 | Q335K | SKCM | 1 | K2277 | E2278A | STAD | 1 | K126 | W125C | UCEC | 1 | S554 | S553C | UCEC | 1 | I2021,C2019 | L2020F | UCEC | 1 |
| 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | H2334 | V2333E | -1.5527755 | W2332 | V2333E | -1.5527755 | K126 | W125C | -1.4445807 | I2021 | L2020F | -1.2690854 | C2019 | L2020F | -1.2690854 | T2260 | K2258R | -0.8598485 | H334 | Q335K | -0.78800321 | S554 | S553C | -0.71842372 | K2277 | E2278A | -0.70577017 | S128 | S128F | -0.072423228 |
| (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 |
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| 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) |
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| Phenotype information for F8 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0019069 | Hemophilia A | 189 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C1366370 | HEMOPHILIA A | 59 | Biomarker, GeneticVariation |
| umls:C0042487 | Venous Thrombosis | 7 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0398623 | Thrombophilia | 3 | Biomarker, GeneticVariation |
| umls:C0004364 | Autoimmune Diseases | 2 | Biomarker |
| umls:C0272325 | Factor 8 deficiency, acquired | 1 | Therapeutic |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational|withdrawn | DB00055 | Drotrecogin alfa | Biotech |  |
| Approved | DB00100 | Coagulation Factor IX | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of F8 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of F8 |
| Multiple alignments for P00451 in multiple species |
| LBS | AA sequence | # species | Species | A127 | VSYWKASEGAE | 2 | Homo sapiens, Canis lupus familiaris | A127 | VSYWKASEGDE | 1 | Mus musculus | A131 | KASEGAEYDDQ | 1 | Homo sapiens | A131 | KASEGDEYEDQ | 1 | Mus musculus | A131 | KASEGAEYEDQ | 1 | Canis lupus familiaris | C2019 | IWRVECLIGEH | 2 | Homo sapiens, Mus musculus | C2019 | IWRIECLIGEH | 1 | Canis lupus familiaris | C329 | QFLLFCHISSH | 2 | Homo sapiens, Mus musculus | C329 | QFLLFCHIPSH | 1 | Canis lupus familiaris | D135 | GAEYDDQTSQR | 1 | Homo sapiens | D135 | GDEYEDQTSQM | 1 | Mus musculus | D135 | GAEYEDQTSQK | 1 | Canis lupus familiaris | D144 | QREKEDDKVFP | 1 | Homo sapiens | D144 | QMEKEDDKVFP | 1 | Mus musculus | D144 | QKEKEDDNVIP | 1 | Canis lupus familiaris | D145 | REKEDDKVFPG | 1 | Homo sapiens | D145 | MEKEDDKVFPG | 1 | Mus musculus | D145 | KEKEDDNVIPG | 1 | Canis lupus familiaris | D561 | VNMERDLASGL | 1 | Homo sapiens | D561 | INPERDLASGL | 1 | Mus musculus | D561 | INLERDLASGL | 1 | Canis lupus familiaris | E129 | YWKASEGAEYD | 1 | Homo sapiens | E129 | YWKASEGDEYE | 1 | Mus musculus | E129 | YWKASEGAEYE | 1 | Canis lupus familiaris | E141 | QTSQREKEDDK | 1 | Homo sapiens | E141 | QTSQMEKEDDK | 1 | Mus musculus | E141 | QTSQKEKEDDN | 1 | Canis lupus familiaris | E559 | SFVNMERDLAS | 1 | Homo sapiens | E559 | SFINPERDLAS | 1 | Mus musculus | E559 | SFINLERDLAS | 1 | Canis lupus familiaris | F555 | RYYSSFVNMER | 1 | Homo sapiens | F555 | RYYSSFINPER | 1 | Mus musculus | F555 | RYYSSFINLER | 1 | Canis lupus familiaris | H1973 | SNENIHSIHFS | 2 | Homo sapiens, Canis lupus familiaris | H1973 | NNENIQSIHFS | 1 | Mus musculus | H2024 | CLIGEHLQAGM | 2 | Mus musculus, Canis lupus familiaris | H2024 | CLIGEHLHAGM | 1 | Homo sapiens | H2334 | PQSWVHQIALR | 1 | Homo sapiens | H2334 | PQIWEHQIALR | 1 | Mus musculus | H2334 | PQSWAHHIALR | 1 | Canis lupus familiaris | H286 | TTPEVHSIFLE | 2 | Homo sapiens, Canis lupus familiaris | H286 | TTPEIHSIFLE | 1 | Mus musculus | H334 | CHISSHQHDGM | 1 | Homo sapiens | H334 | CHISSHKHDGM | 1 | Mus musculus | H334 | CHIPSHQHDGM | 1 | Canis lupus familiaris | I2021 | RVECLIGEHLH | 1 | Homo sapiens | I2021 | RVECLIGEHLQ | 1 | Mus musculus | I2021 | RIECLIGEHLQ | 1 | Canis lupus familiaris | I331 | LLFCHISSHQH | 1 | Homo sapiens | I331 | LLFCHISSHKH | 1 | Mus musculus | I331 | LLFCHIPSHQH | 1 | Canis lupus familiaris | K126 | GVSYWKASEGA | 2 | Homo sapiens, Canis lupus familiaris | K126 | GVSYWKASEGD | 1 | Mus musculus | K142 | TSQREKEDDKV | 1 | Homo sapiens | K142 | TSQMEKEDDKV | 1 | Mus musculus | K142 | TSQKEKEDDNV | 1 | Canis lupus familiaris | K2277 | TSMYVKEFLIS | 1 | Homo sapiens | K2277 | TSMFVKEFLIS | 1 | Mus musculus | K2277 | ISMYVKEFLIS | 1 | Canis lupus familiaris | L562 | NMERDLASGLI | 1 | Homo sapiens | L562 | NPERDLASGLI | 1 | Mus musculus | L562 | NLERDLASGLI | 1 | Canis lupus familiaris | M339 | HQHDGMEAYVK | 2 | Homo sapiens, Canis lupus familiaris | M339 | HKHDGMEAYVK | 1 | Mus musculus | M558 | SSFVNMERDLA | 1 | Homo sapiens | M558 | SSFINPERDLA | 1 | Mus musculus | M558 | SSFINLERDLA | 1 | Canis lupus familiaris | N2191 | MGCDLNSCSMP | 1 | Homo sapiens | N2191 | MGCDLNSCSIP | 1 | Mus musculus | N2191 | LGCDFNSCSMP | 1 | Canis lupus familiaris | N557 | YSSFVNMERDL | 1 | Homo sapiens | N557 | YSSFINPERDL | 1 | Mus musculus | N557 | YSSFINLERDL | 1 | Canis lupus familiaris | Q2241 | NAWRPQVNNPK | 1 | Homo sapiens | Q2241 | NAWRPQVNDPK | 1 | Mus musculus | Q2241 | NAWRPQANNPK | 1 | Canis lupus familiaris | Q2330 | LRIHPQSWVHQ | 1 | Homo sapiens | Q2330 | LRIHPQIWEHQ | 1 | Mus musculus | Q2330 | VRLHPQSWAHH | 1 | Canis lupus familiaris | R560 | FVNMERDLASG | 1 | Homo sapiens | R560 | FINPERDLASG | 1 | Mus musculus | R560 | FINLERDLASG | 1 | Canis lupus familiaris | S128 | SYWKASEGAEY | 2 | Homo sapiens, Canis lupus familiaris | S128 | SYWKASEGDEY | 1 | Mus musculus | S2194 | DLNSCSMPLGM | 1 | Homo sapiens | S2194 | DLNSCSIPLGM | 1 | Mus musculus | S2194 | DFNSCSMPLGM | 1 | Canis lupus familiaris | S2331 | RIHPQSWVHQI | 1 | Homo sapiens | S2331 | RIHPQIWEHQI | 1 | Mus musculus | S2331 | RLHPQSWAHHI | 1 | Canis lupus familiaris | S287 | TPEVHSIFLEG | 2 | Homo sapiens, Canis lupus familiaris | S287 | TPEIHSIFLEG | 1 | Mus musculus | S554 | TRYYSSFVNME | 1 | Homo sapiens | S554 | TRYYSSFINPE | 1 | Mus musculus | S554 | TRYYSSFINLE | 1 | Canis lupus familiaris | T137 | EYDDQTSQREK | 1 | Homo sapiens | T137 | EYEDQTSQMEK | 1 | Mus musculus | T137 | EYEDQTSQKEK | 1 | Canis lupus familiaris | T2260 | KTMKVTGVTTQ | 1 | Homo sapiens | T2260 | KTMKVTGIITQ | 1 | Mus musculus | T2260 | KTMKVTGITTQ | 1 | Canis lupus familiaris | W2332 | IHPQSWVHQIA | 1 | Homo sapiens | W2332 | IHPQIWEHQIA | 1 | Mus musculus | W2332 | LHPQSWAHHIA | 1 | Canis lupus familiaris | Y2214 | ITASSYFTNMF | 2 | Homo sapiens, Mus musculus | Y2214 | ITASSYLSSML | 1 | Canis lupus familiaris |
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