mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us
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 EPRS
Gene summary
Basic gene Info.Gene symbolEPRS
Gene nameglutamyl-prolyl-tRNA synthetase
SynonymsEARS|GLUPRORS|PARS|QARS|QPRS
CytomapUCSC genome browser: 1q41
Type of geneprotein-coding
RefGenesNM_004446.2,
Descriptionbifunctional aminoacyl-tRNA synthetasebifunctional glutamate/proline--tRNA ligasecell proliferation-inducing gene 32 proteinglutamate tRNA ligaseglutamatyl-prolyl-tRNA synthetaseglutaminyl-tRNA synthetaseproliferation-inducing gene 32 proteinprolif
Modification date20141207
dbXrefs MIM : 138295
HGNC : HGNC
Ensembl : ENSG00000136628
HPRD : 00703
Vega : OTTHUMG00000037433
ProteinUniProt: P07814
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_EPRS
BioGPS: 2058
PathwayNCI Pathway Interaction Database: EPRS
KEGG: EPRS
REACTOME: EPRS
Pathway Commons: EPRS
ContextiHOP: EPRS
ligand binding site mutation search in PubMed: EPRS
UCL Cancer Institute: EPRS
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
GO:0017148negative regulation of translation23071094
GO:0071346cellular response to interferon-gamma15479637


Top
Ligand binding site mutations for EPRS

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
S1272N1271HCOAD1
R1152V1151LLUAD1
E1123V1125LLUAD1
R1278R1278LLUSC1
G1239G1239ALUSC1
T1164R1165CUCEC1
P1120R1119CUCEC1
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.


Top
Protein structure related information for EPRS
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
P1120R1119C-0.81132958
S1272N1271H-0.67065634
T1164R1165C-0.66939618
R1152V1151L-0.65559474
E1123V1125L-0.53706343
R1278R1278L-0.44637017
G1239G1239A-0.22637395
(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 EPRS from PDB

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


Top

Top
Phenotype information for EPRS
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Top
Pharmacological information for EPRS
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
NutraceuticalDB00142L-Glutamic AcidSmall molecule
Approved|nutraceuticalDB00172L-ProlineSmall molecule
ExperimentalDB02510'5'-O-(N-(L-Prolyl)-Sulfamoyl)AdenosineSmall molecule
ExperimentalDB026845'-O-(N-(L-Cysteinyl)-Sulfamoyl)AdenosineSmall molecule
ExperimentalDB03376'5'-O-(N-(L-Alanyl)-Sulfamoyl)AdenosineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of EPRS go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
HFGHALOFUGINONE7-BROMO-6-CHLORO-3-{3-[(2R,3S)-3-HYDROXYPIPERIDIN-2- YL]-2-OXOPROPYL}QUINAZOLIN-4(3H)-ONE4hvcAP1120 E1123 R1152
HFGHALOFUGINONE7-BROMO-6-CHLORO-3-{3-[(2R,3S)-3-HYDROXYPIPERIDIN-2- YL]-2-OXOPROPYL}QUINAZOLIN-4(3H)-ONE4hvcBP1120 E1123 R1152
ANPAMP-PNP4hvcAR1152 T1164 G1239 R1278
ANPAMP-PNP4hvcBR1152 T1164 R1278


Top
Conservation information for LBS of EPRS
Multiple alignments for P07814 in multiple species
LBSAA sequence# speciesSpecies
C1448-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C1448VQIPFCGEIDC1Homo sapiens
C1448AQIPFCGEIDC1Mus musculus
C1453-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C1453CGEIDCEDWIK2Homo sapiens, Mus musculus
E1100-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E1100ADFAPEVAWVT1Homo sapiens
E1100EDFAPEVAWVT1Mus musculus
E1123-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E1123IRPTSETVMYP2Homo sapiens, Mus musculus
E1154-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E1154NVVRWEFKHPQ2Homo sapiens, Mus musculus
E1171-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E1171EFLWQEGHSAF2Homo sapiens, Mus musculus
F1097-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F1097THVADFAPEVA1Homo sapiens
F1097NHIEDFAPEVA1Mus musculus
F1161-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F1161KHPQPFLRTRE2Homo sapiens, Mus musculus
F1167-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F1167LRTREFLWQEG2Homo sapiens, Mus musculus
F1216-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F1216TEKEKFAGGDY2Homo sapiens, Mus musculus
G1239-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G1239RAIQGGTSHHL1Homo sapiens
G1239RAIQGATSHHL1Mus musculus
G1274-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G1274YQNSWGLTTRT1Homo sapiens
G1274YQCSWGLTTRT1Mus musculus
H1093-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H1093EKEKTHVADFA1Homo sapiens
H1093EKEKNHIEDFA1Mus musculus
H1173-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H1173LWQEGHSAFAT2Homo sapiens, Mus musculus
H1242-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H1242QGGTSHHLGQN1Homo sapiens
H1242QGATSHHLGQN1Mus musculus
L1162-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L1162HPQPFLRTREF2Homo sapiens, Mus musculus
P1120-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P1120PIAIRPTSETV2Homo sapiens, Mus musculus
Q1237-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q1237SGRAIQGGTSH1Homo sapiens
Q1237SGRAIQGATSH1Mus musculus
R1152-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R1152WCNVVRWEFKH2Homo sapiens, Mus musculus
R1163-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R1163PQPFLRTREFL2Homo sapiens, Mus musculus
R1278-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R1278WGLTTRTIGVM2Homo sapiens, Mus musculus
S1272-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S1272FAYQNSWGLTT1Homo sapiens
S1272FAYQCSWGLTT1Mus musculus
T1121-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T1121IAIRPTSETVM2Homo sapiens, Mus musculus
T1164-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T1164QPFLRTREFLW2Homo sapiens, Mus musculus
T1240-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T1240AIQGGTSHHLG1Homo sapiens
T1240AIQGATSHHLG1Mus musculus
T1276-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T1276NSWGLTTRTIG1Homo sapiens
T1276CSWGLTTRTIG1Mus musculus
V1101-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V1101DFAPEVAWVTR2Homo sapiens, Mus musculus
W1169-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W1169TREFLWQEGHS2Homo sapiens, Mus musculus
W1273-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W1273AYQNSWGLTTR1Homo sapiens
W1273AYQCSWGLTTR1Mus musculus


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas