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 ETV4
Gene summary
Basic gene Info.Gene symbolETV4
Gene nameets variant 4
CytomapUCSC genome browser: 17q21
Type of geneprotein-coding
DescriptionETS translocation variant 4EWS protein/E1A enhancer binding protein chimeraadenovirus E1A enhancer-binding proteinets variant gene 4 (E1A enhancer-binding protein, E1AF)polyomavirus enhancer activator 3 homolog
Modification date20141207
dbXrefs MIM : 600711
Ensembl : ENSG00000175832
HPRD : 02833
Vega : OTTHUMG00000180884
ProteinUniProt: P43268
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ETV4
BioGPS: 2118
PathwayNCI Pathway Interaction Database: ETV4
Pathway Commons: ETV4
ContextiHOP: ETV4
ligand binding site mutation search in PubMed: ETV4
UCL Cancer Institute: ETV4
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0045944positive regulation of transcription from RNA polymerase II promoter24983502

Ligand binding site mutations for ETV4
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
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.

Protein structure related information for ETV4
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
(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 ETV4 from PDB

Differential gene expression and gene-gene network for ETV4
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 ETV4 and the right PPI network was created from samples without mutations in the LBS of ETV4. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ETV4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1458155Breast Neoplasms9AlteredExpression, Biomarker
umls:C0033578Prostatic Neoplasms4AlteredExpression, Biomarker

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

Pharmacological information for ETV4
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ETV4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids4uuvAR397
NUCNucleic Acids4uuvDR397
NUCNucleic Acids4uuvGR397
NUCNucleic Acids4uuvJR397
NUCNucleic Acids4uuvMR397
NUCNucleic Acids4uuvPR397
NUCNucleic Acids4uuvSR397
NUCNucleic Acids4uuvVR397
NUCNucleic Acids4uuvAW381 R397
NUCNucleic Acids4uuvDW381 R397
NUCNucleic Acids4uuvGW381 R397
NUCNucleic Acids4uuvJW381 R397
NUCNucleic Acids4uuvMW381 R397
NUCNucleic Acids4uuvPW381 R397
NUCNucleic Acids4uuvSW381 R397
NUCNucleic Acids4uuvVW381 R397

Conservation information for LBS of ETV4
Multiple alignments for P43268 in multiple species
LBSAA sequence# speciesSpecies

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