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 EPOR
Gene summary
Basic gene Info.Gene symbolEPOR
Gene nameerythropoietin receptor
SynonymsEPO-R
CytomapUCSC genome browser: 19p13.3-p13.2
Type of geneprotein-coding
RefGenesNM_000121.3,
NR_033663.1,
Description-
Modification date20141207
dbXrefs MIM : 133171
HGNC : HGNC
Ensembl : ENSG00000187266
HPRD : 00587
Vega : OTTHUMG00000182027
ProteinUniProt: P19235
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_EPOR
BioGPS: 2057
PathwayNCI Pathway Interaction Database: EPOR
KEGG: EPOR
REACTOME: EPOR
Pathway Commons: EPOR
ContextiHOP: EPOR
ligand binding site mutation search in PubMed: EPOR
UCL Cancer Institute: EPOR
Assigned class in mutLBSgeneDBA: This gene has a literature evidence and it belongs to targetable_mutLBSgenes.
References showing study about ligand binding site mutation for EPOR.1. "Yoshimura A, Zimmers T, Neumann D, Longmore G, Yoshimura Y, Lodish HF. Mutations in the Trp-Ser-X-Trp-Ser motif of the erythropoietin receptor abolish processing, ligand binding, and activation of the receptor. J Biol Chem. 1992 Jun 5;267(16):11619-25. PubMed PMID: 1317872. " 1317872
2. "Middleton SA, Johnson DL, Jin R, McMahon FJ, Collins A, Tullai J, Gruninger RH, Jolliffe LK, Mulcahy LS. Identification of a critical ligand binding determinant of the human erythropoietin receptor. Evidence for common ligand binding motifs in the cytokine receptor family. J Biol Chem. 1996 Jun 14;271(24):14045-54. PubMed PMID: 8662939. " 8662939

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0038162erythropoietin-mediated signaling pathway2163696


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Ligand binding site mutations for EPOR
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
S115D113GUCEC1
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 EPOR
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
S115D113G-0.96756721
(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 EPOR from PDB

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Differential gene expression and gene-gene network for EPOR
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 EPOR and the right PPI network was created from samples without mutations in the LBS of EPOR. 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 EPOR
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0032461Polycythemia22Biomarker, GeneticVariation
umls:C0152264Polycythemia, primary familial and congenital12Biomarker, GeneticVariation
umls:C0023440Leukemia, Erythroblastic, Acute9AlteredExpression, Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms4AlteredExpression, Biomarker
umls:C0025202Melanoma4Biomarker
umls:C0027627Neoplasm Metastasis2AlteredExpression, Biomarker
umls:C0040136Thyroid Neoplasms1AlteredExpression, Biomarker
umls:C0027626Neoplasm Invasiveness1Biomarker
umls:C0027746Nerve Degeneration1Therapeutic

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

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Pharmacological information for EPOR
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|investigationalDB00012Darbepoetin alfaBiotech
ApprovedDB00016ErythropoietinBiotech
ExperimentalDB076373,5 DIBROMOTYROSINESmall molecule
ApprovedDB08894PeginesatideSmall molecule
ApprovedDB08923Epoetin ZetaBiotech

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of EPOR go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of EPOR
Multiple alignments for P19235 in multiple species
LBSAA sequence# speciesSpecies
F117ADTSSFVPLEL3Homo sapiens, Mus musculus, Canis lupus familiaris
F229MAEPSFGGFWS2Homo sapiens, Canis lupus familiaris
F229MAEPSFSGFWS1Mus musculus
H177TPMTSHIRYEV1Homo sapiens
H177APMTTHIRYEV1Mus musculus
H177APVASLIRYEV1Canis lupus familiaris
L57CFTERLEDLVC2Homo sapiens, Canis lupus familiaris
L57CFTQRLEDLVC1Mus musculus
M174PPETPMTSHIR1Homo sapiens
M174PPGAPMTTHIR1Mus musculus
M174PPGAPVASLIR1Canis lupus familiaris
P173PPPETPMTSHI1Homo sapiens
P173PPPGAPMTTHI1Mus musculus
P173PPPGAPVASLI1Canis lupus familiaris
P227ARMAEPSFGGF2Homo sapiens, Canis lupus familiaris
P227ARMAEPSFSGF1Mus musculus
S115PTADTSSFVPL3Homo sapiens, Mus musculus, Canis lupus familiaris
S116TADTSSFVPLE3Homo sapiens, Mus musculus, Canis lupus familiaris
S176ETPMTSHIRYE1Homo sapiens
S176GAPMTTHIRYE1Mus musculus
S176GAPVASLIRYE1Canis lupus familiaris
S228RMAEPSFGGFW2Homo sapiens, Canis lupus familiaris
S228RMAEPSFSGFW1Mus musculus
T175PETPMTSHIRY1Homo sapiens
T175PGAPMTTHIRY1Mus musculus
T175PGAPVASLIRY1Canis lupus familiaris
V118DTSSFVPLELR2Homo sapiens, Canis lupus familiaris
V118DTSSFVPLELQ1Mus musculus


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