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 F13A1
Gene summary
Basic gene Info.Gene symbolF13A1
Gene namecoagulation factor XIII, A1 polypeptide
SynonymsF13A
CytomapUCSC genome browser: 6p25.3-p24.3
Type of geneprotein-coding
RefGenesNM_000129.3,
DescriptionFSF, 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 date20141207
dbXrefs MIM : 134570
HGNC : HGNC
Ensembl : ENSG00000124491
HPRD : 00604
Vega : OTTHUMG00000014186
ProteinUniProt: P00488
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_F13A1
BioGPS: 2162
PathwayNCI Pathway Interaction Database: F13A1
KEGG: F13A1
REACTOME: F13A1
Pathway Commons: F13A1
ContextiHOP: F13A1
ligand binding site mutation search in PubMed: F13A1
UCL Cancer Institute: F13A1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for F13A1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D272E273KUCEC2
L440L440HBRCA1
A269A269VCOAD1
F340F340LCOAD1
D272E273KCOAD1
H460H460NLUAD1
T399S398ILUAD1
D352D352ELUAD1
W371W371GSKCM1
D272E273KSKCM1
Y215G216RSKCM1
S291P290LSKCM1
H374C375RSTAD1
D272E273KSTAD1
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

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
T399S398I0.21172651
L440L440H-1.7934686
W371W371G-1.0191137
D272E273K-0.98706433
H374C375R-0.79119949
F340F340L-0.69467269
A269A269V-0.59058655
H460H460N-0.49198584
S291P290L-0.38813505
D352D352E-0.33654708
Y215G216R-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 IDPDB titlePDB structure
1F13RECOMBINANT 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)
* Left PPI network was created from samples with mutations in the LBS of F13A1 and the right PPI network was created from samples without mutations in the LBS of F13A1. 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 F13A1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027051Myocardial Infarction18Biomarker, GeneticVariation
umls:C0015530Factor XIII Deficiency6Biomarker, GeneticVariation
umls:C0042487Venous Thrombosis5Biomarker, GeneticVariation
umls:C2750514Factor Xiii, A Subunit, Deficiency Of1Biomarker, GeneticVariation
umls:C0162820Dermatitis, Allergic Contact1Biomarker

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

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB018391,2-PropanediolSmall molecule
ExperimentalDB02340N-Acetyl-SerineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of F13A1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of F13A1
Multiple alignments for P00488 in multiple species
LBSAA sequence# speciesSpecies
A265SRVGSAMVNAK3Homo sapiens, Mus musculus, Rattus norvegicus
A269SAMVNAKDDEG3Homo sapiens, Mus musculus, Rattus norvegicus
A458VENVDATHIGK2Homo sapiens, Rattus norvegicus
A458VEAVDATHIGK1Mus musculus
C315VRYGQCWVFAG2Homo sapiens, Mus musculus
C315VRYGQCWVLAG1Rattus norvegicus
D272VNAKDDEGVLV3Homo sapiens, Mus musculus, Rattus norvegicus
D344YFSAHDNDANL2Homo sapiens, Mus musculus
D344YSSAHDNDANL1Rattus norvegicus
D346SAHDNDANLQM3Homo sapiens, Mus musculus, Rattus norvegicus
D352ANLQMDIFLEE3Homo sapiens, Mus musculus, Rattus norvegicus
D368SKLTKDSVWNY2Homo sapiens, Mus musculus
D368FKLTKDSVWNY1Rattus norvegicus
D439AEVNSDLIYIT1Homo sapiens
D439AEVNSDLVYIT1Mus musculus
D439GEVNSDLVYIT1Rattus norvegicus
E486TYKFQEGQEEE3Homo sapiens, Mus musculus, Rattus norvegicus
E491EGQEEERLALE3Homo sapiens, Mus musculus, Rattus norvegicus
F340IVTNYFSAHDN1Homo sapiens
F340VITNYFSAHDN1Mus musculus
F340VITNYSSAHDN1Rattus norvegicus
H374SVWNYHCWNEA3Homo sapiens, Mus musculus, Rattus norvegicus
H460NVDATHIGKLI2Homo sapiens, Rattus norvegicus
H460AVDATHIGKLI1Mus musculus
I353NLQMDIFLEED3Homo sapiens, Mus musculus, Rattus norvegicus
K270AMVNAKDDEGV3Homo sapiens, Mus musculus, Rattus norvegicus
L440EVNSDLVYITA2Mus musculus, Rattus norvegicus
L440EVNSDLIYITA1Homo sapiens
M351DANLQMDIFLE3Homo sapiens, Mus musculus, Rattus norvegicus
N268GSAMVNAKDDE3Homo sapiens, Mus musculus, Rattus norvegicus
N348HDNDANLQMDI3Homo sapiens, Mus musculus, Rattus norvegicus
N372KDSVWNYHCWN3Homo sapiens, Mus musculus, Rattus norvegicus
N437VFAEVNSDLIY1Homo sapiens
N437VFAEVNSDLVY1Mus musculus
N437VLGEVNSDLVY1Rattus norvegicus
Q314PVRYGQCWVFA2Homo sapiens, Mus musculus
Q314PVRYGQCWVLA1Rattus norvegicus
Q350NDANLQMDIFL3Homo sapiens, Mus musculus, Rattus norvegicus
Q401VDSTPQENSDG3Homo sapiens, Mus musculus, Rattus norvegicus
R224NDIKTRSWSYG1Homo sapiens
R224KDIKSRSWSYG1Mus musculus
R224NDIKSRSWSYG1Rattus norvegicus
S291YGIPPSAWTGS2Mus musculus, Rattus norvegicus
S291YGVPPSAWTGS1Homo sapiens
S369KLTKDSVWNYH3Homo sapiens, Mus musculus, Rattus norvegicus
S438FAEVNSDLIYI1Homo sapiens
S438FAEVNSDLVYI1Mus musculus
S438LGEVNSDLVYI1Rattus norvegicus
T366VNSKLTKDSVW1Homo sapiens
T366VSSKLTKDSVW1Mus musculus
T366VSFKLTKDSVW1Rattus norvegicus
T399QAVDSTPQENS3Homo sapiens, Mus musculus, Rattus norvegicus
T459ENVDATHIGKL2Homo sapiens, Rattus norvegicus
T459EAVDATHIGKL1Mus musculus
V370LTKDSVWNYHC3Homo sapiens, Mus musculus, Rattus norvegicus
W280VLVGSWDNVYA2Mus musculus, Rattus norvegicus
W280VLVGSWDNIYA1Homo sapiens
W316RYGQCWVFAGV2Homo sapiens, Mus musculus
W316RYGQCWVLAGV1Rattus norvegicus
W371TKDSVWNYHCW3Homo sapiens, Mus musculus, Rattus norvegicus
Y215IGVIFYGEVND1Homo sapiens
Y215IGVIFYGDFKD1Mus musculus
Y215IGGIFHGDFND1Rattus norvegicus
Y284SWDNVYAYGIP2Mus musculus, Rattus norvegicus
Y284SWDNIYAYGVP1Homo sapiens
Y373DSVWNYHCWNE3Homo sapiens, Mus musculus, Rattus norvegicus
Y442NSDLIYITAKK1Homo sapiens
Y442NSDLVYITAKQ1Mus musculus
Y442NSDLVYITAKK1Rattus norvegicus


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