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 ETV1
Gene summary
Basic gene Info.Gene symbolETV1
Gene nameets variant 1
CytomapUCSC genome browser: 7p21.3
Type of geneprotein-coding
DescriptionETS translocation variant 1ets variant gene 1ets-related protein 81
Modification date20141207
dbXrefs MIM : 600541
Ensembl : ENSG00000006468
HPRD : 02765
Vega : OTTHUMG00000152403
ProteinUniProt: P50549
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ETV1
BioGPS: 2115
PathwayNCI Pathway Interaction Database: ETV1
Pathway Commons: ETV1
ContextiHOP: ETV1
ligand binding site mutation search in PubMed: ETV1
UCL Cancer Institute: ETV1
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 promoter12750007

Ligand binding site mutations for ETV1
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 ETV1
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 ETV1 from PDB

Differential gene expression and gene-gene network for ETV1
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 ETV1 and the right PPI network was created from samples without mutations in the LBS of ETV1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ETV1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0033578Prostatic Neoplasms9AlteredExpression, Biomarker, GeneticVariation

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

Pharmacological information for ETV1
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 ETV1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids4b06AA383 M384 K388
NUCNucleic Acids4bncAA383 M384 K388
NUCNucleic Acids4b06AY410
NUCNucleic Acids4bncAY410

Conservation information for LBS of ETV1
Multiple alignments for P50549 in multiple species
LBSAA sequence# speciesSpecies
A383QKNRPAMNYDK3Homo sapiens, Mus musculus, Bos taurus
D23Homo sapiens, Mus musculus, Bos taurus
K379RWGIQKNRPAM3Homo sapiens, Mus musculus, Bos taurus
K388AMNYDKLSRSL3Homo sapiens, Mus musculus, Bos taurus
K404KGIMQKVAGER3Homo sapiens, Mus musculus, Bos taurus
L337RGSLQLWQFLV3Homo sapiens, Mus musculus, Bos taurus
M384KNRPAMNYDKL3Homo sapiens, Mus musculus, Bos taurus
Q336RRGSLQLWQFL3Homo sapiens, Mus musculus, Bos taurus
R381GIQKNRPAMNY3Homo sapiens, Mus musculus, Bos taurus
R391YDKLSRSLRYY3Homo sapiens, Mus musculus, Bos taurus
R394LSRSLRYYYEK3Homo sapiens, Mus musculus, Bos taurus
R409KVAGERYVYKF3Homo sapiens, Mus musculus, Bos taurus
S392DKLSRSLRYYY3Homo sapiens, Mus musculus, Bos taurus
W375EVARRWGIQKN3Homo sapiens, Mus musculus, Bos taurus
Y395SRSLRYYYEKG3Homo sapiens, Mus musculus, Bos taurus
Y396RSLRYYYEKGI3Homo sapiens, Mus musculus, Bos taurus
Y397SLRYYYEKGIM3Homo sapiens, Mus musculus, Bos taurus
Y410VAGERYVYKFV3Homo sapiens, Mus musculus, Bos taurus

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