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 MMP14
Gene summary
Basic gene Info.Gene symbolMMP14
Gene namematrix metallopeptidase 14 (membrane-inserted)
SynonymsMMP-14|MMP-X1|MT-MMP|MT-MMP 1|MT1-MMP|MT1MMP|MTMMP1|WNCHRS
CytomapUCSC genome browser: 14q11.2
Type of geneprotein-coding
RefGenesNM_004995.3,
Descriptionmatrix metalloproteinase-14membrane type 1 metalloproteasemembrane-type-1 matrix metalloproteinase
Modification date20141207
dbXrefs MIM : 600754
HGNC : HGNC
Ensembl : ENSG00000157227
HPRD : 02856
Vega : OTTHUMG00000028704
ProteinUniProt: P50281
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MMP14
BioGPS: 4323
PathwayNCI Pathway Interaction Database: MMP14
KEGG: MMP14
REACTOME: MMP14
Pathway Commons: MMP14
ContextiHOP: MMP14
ligand binding site mutation search in PubMed: MMP14
UCL Cancer Institute: MMP14
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
GO:0006508proteolysis15863497
GO:0030307positive regulation of cell growth22065321
GO:0030335positive regulation of cell migration22065321


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Ligand binding site mutations for MMP14
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G206G206CLUSC1
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 MMP14
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
G206G206C-0.76486005
(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 MMP14 from PDB

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Differential gene expression and gene-gene network for MMP14
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 MMP14 and the right PPI network was created from samples without mutations in the LBS of MMP14. 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 MMP14
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0001418Adenocarcinoma6Biomarker
umls:C0014859Esophageal Neoplasms4Biomarker
umls:C0162871Aortic Aneurysm, Abdominal3Biomarker
umls:C0024117Pulmonary Disease, Chronic Obstructive2Biomarker, GeneticVariation
umls:C0432289Winchester syndrome1GeneticVariation

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

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Pharmacological information for MMP14
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|investigationalDB00786MarimastatSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MMP14 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)1bqqMG206
CACALCIUM(2+)1buvMG206


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Conservation information for LBS of MMP14
Multiple alignments for P50281 in multiple species
LBSAA sequence# speciesSpecies
D176HEKQADIMIFF2Homo sapiens, Bos taurus
D176HEKQADIMILF2Mus musculus, Rattus norvegicus
D188EGFHGDSTPFD4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D193DSTPFDGEGGF4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D212PNIGGDTHFDS4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D216GDTHFDSAEPW4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
E195TPFDGEGGFLA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
E219HFDSAEPWTVR2Homo sapiens, Bos taurus
E219HFDSAEPWTVQ2Mus musculus, Rattus norvegicus
F198DGEGGFLAHAY4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G194STPFDGEGGFL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G196PFDGEGGFLAH4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G206HAYFPGPNIGG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G210PGPNIGGDTHF4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H186FAEGFHGDSTP4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H201GGFLAHAYFPG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H214IGGDTHFDSAE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H239FLVAVHELGHA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H243VHELGHALGLE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H249ALGLEHSNDPS3Bos taurus, Mus musculus, Rattus norvegicus
H249ALGLEHSSDPS1Homo sapiens
I209FPGPNIGGDTH4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L199GEGGFLAHAYF4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
N208YFPGPNIGGDT4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus


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