mutLBSgeneDB

mutLBSgeneDB
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 EPS8L1
Gene summary
Basic gene Info.Gene symbolEPS8L1
Gene nameEPS8-like 1
SynonymsDRC3|EPS8R1
CytomapUCSC genome browser: 19q13.42
Type of geneprotein-coding
RefGenesNM_017729.3,
NM_133180.2,NM_139204.1,
DescriptionEPS8-like protein 1EPS8-related protein 1epidermal growth factor receptor kinase substrate 8-like protein 1epidermal growth factor receptor pathway substrate 8-related protein 1
Modification date20141207
dbXrefs MIM : 614987
HGNC : HGNC
Ensembl : ENSG00000131037
HPRD : 13276
Vega : OTTHUMG00000180513
ProteinUniProt: Q8TE68
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_EPS8L1
BioGPS: 54869
PathwayNCI Pathway Interaction Database: EPS8L1
KEGG: EPS8L1
REACTOME: EPS8L1
Pathway Commons: EPS8L1
ContextiHOP: EPS8L1
ligand binding site mutation search in PubMed: EPS8L1
UCL Cancer Institute: EPS8L1
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:0007266Rho protein signal transduction14565974
GO:0032321positive regulation of Rho GTPase activity14565974
GO:0032855positive regulation of Rac GTPase activity14565974
GO:0035023regulation of Rho protein signal transduction14565974


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Ligand binding site mutations for EPS8L1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G525G525EGBM1
N493R492HLUAD1
R512R512HSTAD1
G525Q523HSTAD1
N493R492CUCEC1
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 EPS8L1
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
R512R512H-1.4526962
N493R492H-0.99876001
G525G525E-0.82138116
N493R492C-0.69145032
G525Q523H-0.58670772
(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 EPS8L1 from PDB

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Differential gene expression and gene-gene network for EPS8L1
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 EPS8L1 and the right PPI network was created from samples without mutations in the LBS of EPS8L1. 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 EPS8L1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for EPS8L1
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 EPS8L1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (PRO,PRO,VAL,PRO,ASN,PRO,ASP,TYR,GLU,PRO,ILE,ARG)2rolAN493 R512 G525


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Conservation information for LBS of EPS8L1
Multiple alignments for Q8TE68 in multiple species
LBSAA sequence# speciesSpecies


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