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 ETS1
Gene summary
Basic gene Info.Gene symbolETS1
Gene namev-ets avian erythroblastosis virus E26 oncogene homolog 1
SynonymsETS-1|EWSR2|p54
CytomapUCSC genome browser: 11q23.3
Type of geneprotein-coding
RefGenesNM_001143820.1,
NM_001162422.1,NM_005238.3,
DescriptionAvian erythroblastosis virus E26 (v-ets) oncogene homolog-1protein C-ets-1v-ets avian erythroblastosis virus E2 oncogene homolog 1
Modification date20141222
dbXrefs MIM : 164720
HGNC : HGNC
Ensembl : ENSG00000134954
HPRD : 01260
Vega : OTTHUMG00000165799
ProteinUniProt: P14921
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ETS1
BioGPS: 2113
PathwayNCI Pathway Interaction Database: ETS1
KEGG: ETS1
REACTOME: ETS1
Pathway Commons: ETS1
ContextiHOP: ETS1
ligand binding site mutation search in PubMed: ETS1
UCL Cancer Institute: ETS1
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:0006366transcription from RNA polymerase II promoter7753825
GO:0030578PML body organization11909962
GO:0042981regulation of apoptotic process9266972
GO:0045648positive regulation of erythrocyte differentiation8620536
GO:0045786negative regulation of cell cycle9266972
GO:0045893positive regulation of transcription, DNA-templated10698492
GO:0045944positive regulation of transcription from RNA polymerase II promoter15247905
GO:0046677response to antibiotic9266972


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Ligand binding site mutations for ETS1
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
R409R409HBRCA1
K399K399ISKCM1
R391R391HTHCA1
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 ETS1
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
R409R409H-0.98129974
K399K399I-0.58026579
R391R391H-0.39401143
(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 ETS1 from PDB

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Differential gene expression and gene-gene network for ETS1
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 ETS1 and the right PPI network was created from samples without mutations in the LBS of ETS1. 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 ETS1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0024141Lupus Erythematosus, Systemic14Biomarker, GeneticVariation
umls:C0007570Celiac Disease1Biomarker, GeneticVariation
umls:C0035126Reperfusion Injury1Biomarker

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

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Pharmacological information for ETS1
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 ETS1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids3wttHK399
NUCNucleic Acids3wtuHK399
NUCNucleic Acids3wtwCK399
NUCNucleic Acids3mfkBR391
NUCNucleic Acids3mfkBR391
NUCNucleic Acids4l0yBR391
NUCNucleic Acids4l0zBR391
NUCNucleic Acids4l18BR391
NUCNucleic Acids4l18FR391
NUCNucleic Acids3wtsCR391
NUCNucleic Acids3wtsHR391
NUCNucleic Acids3wttCR391
NUCNucleic Acids3wtuCR391
NUCNucleic Acids3wtvCR391
NUCNucleic Acids2nnyAR391 K399
NUCNucleic Acids2nnyBR391 K399
NUCNucleic Acids3mfkAR391 K399
NUCNucleic Acids3ri4AR391 K399
NUCNucleic Acids3ri4DR391 K399
NUCNucleic Acids4lg0BR391 K399
NUCNucleic Acids3wtxCR391 K399
NUCNucleic Acids3wtxHR391 K399
NUCNucleic Acids3wtyCR391 K399
NUCNucleic Acids3wtyHR391 K399
NUCNucleic Acids3wtvHR391 K399
NUCNucleic Acids3wtwHR391 K399
NUCNucleic Acids3wu1BR391 K399
NUCNucleic Acids2nnyAR391 R409
NUCNucleic Acids2nnyBR391 R409
NUCNucleic Acids3mfkAR391 R409
NUCNucleic Acids3ri4AR391 R409
NUCNucleic Acids3ri4DR391 R409
NUCNucleic Acids4l0yBR391 R409
NUCNucleic Acids4l0zBR391 R409
NUCNucleic Acids4l18BR391 R409
NUCNucleic Acids4l18FR391 R409
NUCNucleic Acids4lg0BR391 R409
NUCNucleic Acids3wtsCR391 R409
NUCNucleic Acids3wtsHR391 R409
NUCNucleic Acids3wttCR391 R409
NUCNucleic Acids3wttHR391 R409
NUCNucleic Acids3wtuCR391 R409
NUCNucleic Acids3wtuHR391 R409
NUCNucleic Acids3wtxCR391 R409
NUCNucleic Acids3wtxHR391 R409
NUCNucleic Acids3wtyCR391 R409
NUCNucleic Acids3wtyHR391 R409
NUCNucleic Acids3wtvCR391 R409
NUCNucleic Acids3wtvHR391 R409
NUCNucleic Acids3wtwCR391 R409
NUCNucleic Acids3wtwHR391 R409
NUCNucleic Acids3wu1BR391 R409


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Conservation information for LBS of ETS1
Multiple alignments for P14921 in multiple species
LBSAA sequence# speciesSpecies
D398LRYYYDKNIIH4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
E387PKMNYEKLSRG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G333GYTGSGPIQLW4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G392EKLSRGLRYYY4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K379RWGKRKNKPKM4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K381GKRKNKPKMNY4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K383RKNKPKMNYEK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K388KMNYEKLSRGL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K399RYYYDKNIIHK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K404KNIIHKTAGKR4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K408HKTAGKRYVYR4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
L337SGPIQLWQFLL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
M384KNKPKMNYEKL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
P334YTGSGPIQLWQ4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Q336GSGPIQLWQFL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R391YEKLSRGLRYY4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R394LSRGLRYYYDK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R409KTAGKRYVYRF4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
S390NYEKLSRGLRY4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
W375EVARRWGKRKN4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Y386KPKMNYEKLSR4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Y395SRGLRYYYDKN4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Y396RGLRYYYDKNI4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Y397GLRYYYDKNII4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Y410TAGKRYVYRFV4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus


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