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mutLBSgeneDB |
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| Gene summary for F13A1 |
 Gene summary |
| Basic gene Info. | Gene symbol | F13A1 |
| Gene name | coagulation factor XIII, A1 polypeptide | |
| Synonyms | F13A | |
| Cytomap | UCSC genome browser: 6p25.3-p24.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000129.3, | |
| Description | FSF, A subunitTGasebA525O21.1 (coagulation factor XIII, A1 polypeptide)coagulation factor XIII A chaincoagulation factor XIII, A polypeptidecoagulation factor XIIIafactor XIIIafibrin stabilizing factor, A subunitfibrinoligaseprotein-glutamine gam | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 134570 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000124491 | ||
| HPRD : 00604 | ||
| Vega : OTTHUMG00000014186 | ||
| Protein | UniProt: P00488 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_F13A1 | |
| BioGPS: 2162 | ||
| Pathway | NCI Pathway Interaction Database: F13A1 | |
| KEGG: F13A1 | ||
| REACTOME: F13A1 | ||
| Pathway Commons: F13A1 | ||
| Context | iHOP: F13A1 | |
| ligand binding site mutation search in PubMed: F13A1 | ||
| UCL Cancer Institute: F13A1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to 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 F13A1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D272 | E273K | UCEC | 2 | L440 | L440H | BRCA | 1 | A269 | A269V | COAD | 1 | F340 | F340L | COAD | 1 | D272 | E273K | COAD | 1 | H460 | H460N | LUAD | 1 | T399 | S398I | LUAD | 1 | D352 | D352E | LUAD | 1 | W371 | W371G | SKCM | 1 | D272 | E273K | SKCM | 1 | Y215 | G216R | SKCM | 1 | S291 | P290L | SKCM | 1 | H374 | C375R | STAD | 1 | D272 | E273K | STAD | 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 F13A1 |
| 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 | T399 | S398I | 0.21172651 | L440 | L440H | -1.7934686 | W371 | W371G | -1.0191137 | D272 | E273K | -0.98706433 | H374 | C375R | -0.79119949 | F340 | F340L | -0.69467269 | A269 | A269V | -0.59058655 | H460 | H460N | -0.49198584 | S291 | P290L | -0.38813505 | D352 | D352E | -0.33654708 | Y215 | G216R | -0.19272955 |
| (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 F13A1 from PDB |
| PDB ID | PDB title | PDB structure | 1F13 | RECOMBINANT HUMAN CELLULAR COAGULATION FACTOR XIII |  |
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| Differential gene expression and gene-gene network for F13A1 |
| 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 F13A1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027051 | Myocardial Infarction | 18 | Biomarker, GeneticVariation |
| umls:C0015530 | Factor XIII Deficiency | 6 | Biomarker, GeneticVariation |
| umls:C0042487 | Venous Thrombosis | 5 | Biomarker, GeneticVariation |
| umls:C2750514 | Factor Xiii, A Subunit, Deficiency Of | 1 | Biomarker, GeneticVariation |
| umls:C0162820 | Dermatitis, Allergic Contact | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for F13A1 |
| 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 |
| Experimental | DB01839 | 1,2-Propanediol | Small molecule |  |
| Experimental | DB02340 | N-Acetyl-Serine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of F13A1 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 F13A1 |
| Multiple alignments for P00488 in multiple species |
| LBS | AA sequence | # species | Species | A265 | SRVGSAMVNAK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A269 | SAMVNAKDDEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A458 | VENVDATHIGK | 2 | Homo sapiens, Rattus norvegicus | A458 | VEAVDATHIGK | 1 | Mus musculus | C315 | VRYGQCWVFAG | 2 | Homo sapiens, Mus musculus | C315 | VRYGQCWVLAG | 1 | Rattus norvegicus | D272 | VNAKDDEGVLV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D344 | YFSAHDNDANL | 2 | Homo sapiens, Mus musculus | D344 | YSSAHDNDANL | 1 | Rattus norvegicus | D346 | SAHDNDANLQM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D352 | ANLQMDIFLEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D368 | SKLTKDSVWNY | 2 | Homo sapiens, Mus musculus | D368 | FKLTKDSVWNY | 1 | Rattus norvegicus | D439 | AEVNSDLIYIT | 1 | Homo sapiens | D439 | AEVNSDLVYIT | 1 | Mus musculus | D439 | GEVNSDLVYIT | 1 | Rattus norvegicus | E486 | TYKFQEGQEEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E491 | EGQEEERLALE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F340 | IVTNYFSAHDN | 1 | Homo sapiens | F340 | VITNYFSAHDN | 1 | Mus musculus | F340 | VITNYSSAHDN | 1 | Rattus norvegicus | H374 | SVWNYHCWNEA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H460 | NVDATHIGKLI | 2 | Homo sapiens, Rattus norvegicus | H460 | AVDATHIGKLI | 1 | Mus musculus | I353 | NLQMDIFLEED | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K270 | AMVNAKDDEGV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L440 | EVNSDLVYITA | 2 | Mus musculus, Rattus norvegicus | L440 | EVNSDLIYITA | 1 | Homo sapiens | M351 | DANLQMDIFLE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N268 | GSAMVNAKDDE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N348 | HDNDANLQMDI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N372 | KDSVWNYHCWN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N437 | VFAEVNSDLIY | 1 | Homo sapiens | N437 | VFAEVNSDLVY | 1 | Mus musculus | N437 | VLGEVNSDLVY | 1 | Rattus norvegicus | Q314 | PVRYGQCWVFA | 2 | Homo sapiens, Mus musculus | Q314 | PVRYGQCWVLA | 1 | Rattus norvegicus | Q350 | NDANLQMDIFL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q401 | VDSTPQENSDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R224 | NDIKTRSWSYG | 1 | Homo sapiens | R224 | KDIKSRSWSYG | 1 | Mus musculus | R224 | NDIKSRSWSYG | 1 | Rattus norvegicus | S291 | YGIPPSAWTGS | 2 | Mus musculus, Rattus norvegicus | S291 | YGVPPSAWTGS | 1 | Homo sapiens | S369 | KLTKDSVWNYH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S438 | FAEVNSDLIYI | 1 | Homo sapiens | S438 | FAEVNSDLVYI | 1 | Mus musculus | S438 | LGEVNSDLVYI | 1 | Rattus norvegicus | T366 | VNSKLTKDSVW | 1 | Homo sapiens | T366 | VSSKLTKDSVW | 1 | Mus musculus | T366 | VSFKLTKDSVW | 1 | Rattus norvegicus | T399 | QAVDSTPQENS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T459 | ENVDATHIGKL | 2 | Homo sapiens, Rattus norvegicus | T459 | EAVDATHIGKL | 1 | Mus musculus | V370 | LTKDSVWNYHC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W280 | VLVGSWDNVYA | 2 | Mus musculus, Rattus norvegicus | W280 | VLVGSWDNIYA | 1 | Homo sapiens | W316 | RYGQCWVFAGV | 2 | Homo sapiens, Mus musculus | W316 | RYGQCWVLAGV | 1 | Rattus norvegicus | W371 | TKDSVWNYHCW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y215 | IGVIFYGEVND | 1 | Homo sapiens | Y215 | IGVIFYGDFKD | 1 | Mus musculus | Y215 | IGGIFHGDFND | 1 | Rattus norvegicus | Y284 | SWDNVYAYGIP | 2 | Mus musculus, Rattus norvegicus | Y284 | SWDNIYAYGVP | 1 | Homo sapiens | Y373 | DSVWNYHCWNE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y442 | NSDLIYITAKK | 1 | Homo sapiens | Y442 | NSDLVYITAKQ | 1 | Mus musculus | Y442 | NSDLVYITAKK | 1 | Rattus norvegicus |
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