mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 ENO3
Gene summary
Basic gene Info.Gene symbolENO3
Gene nameenolase 3 (beta, muscle)
SynonymsGSD13|MSE
CytomapUCSC genome browser: 17p13.2
Type of geneprotein-coding
RefGenesNM_001193503.1,
NM_001976.4,NM_053013.3,
Description2-phospho-D-glycerate hydrolyasebeta-enolasemuscle-specific enolaseskeletal muscle enolase
Modification date20141207
dbXrefs MIM : 131370
HGNC : HGNC
Ensembl : ENSG00000108515
HPRD : 11746
Vega : OTTHUMG00000099394
ProteinUniProt: P13929
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ENO3
BioGPS: 2027
PathwayNCI Pathway Interaction Database: ENO3
KEGG: ENO3
REACTOME: ENO3
Pathway Commons: ENO3
ContextiHOP: ENO3
ligand binding site mutation search in PubMed: ENO3
UCL Cancer Institute: ENO3
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 ENO3

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D245G243SUCEC1
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 ENO3
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
D245G243S-1.2758852
(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 ENO3 from PDB

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Differential gene expression and gene-gene network for ENO3
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 ENO3 and the right PPI network was created from samples without mutations in the LBS of ENO3. 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 ENO3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2752027Glycogen Storage Disease XIII1Biomarker, GeneticVariation
umls:C0023895Liver Diseases1Biomarker

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

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Pharmacological information for ENO3
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
ExperimentalDB01819PhosphoenolpyruvateSmall molecule
ExperimentalDB027262-Phosphoglycolic AcidSmall molecule
ExperimentalDB034652-Phospho-D-Glyceric AcidSmall molecule
ExperimentalDB03645Phosphonoacetohydroxamic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ENO3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MGMAGNESIUM(2+)2xsxAD245
MGMAGNESIUM(2+)2xsxBD245


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Conservation information for LBS of ENO3
Multiple alignments for P13929 in multiple species
LBSAA sequence# speciesSpecies
D245VVIGMDVAASE4Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus
D318IQIVGDDLTVT4Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus
E293PVVSIEDPFDQ4Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus


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