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 CTSE
Gene summary
Basic gene Info.Gene symbolCTSE
Gene namecathepsin E
CytomapUCSC genome browser: 1q31
Type of geneprotein-coding
Descriptionerythrocyte membrane aspartic proteinaseslow-moving proteinase
Modification date20141207
dbXrefs MIM : 116890
Ensembl : ENSG00000196188
HPRD : 00294
Vega : OTTHUMG00000036121
ProteinUniProt: P14091
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CTSE
BioGPS: 1510
PathwayNCI Pathway Interaction Database: CTSE
Pathway Commons: CTSE
ContextiHOP: CTSE
ligand binding site mutation search in PubMed: CTSE
UCL Cancer Institute: CTSE
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II8765029

Ligand binding site mutations for CTSE

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 CTSE
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 CTSE from PDB

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


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

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

Pharmacological information for CTSE
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 CTSE go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of CTSE
Multiple alignments for P14091 in multiple species
LBSAA sequence# speciesSpecies
D216AQNLVALPMFS2Mus musculus, Rattus norvegicus
D216AQNLVDLPMFS1Homo sapiens
D242TFGGYDPSHFS2Mus musculus, Rattus norvegicus
D242IFGGYDHSHFS1Homo sapiens
E161FATQVEGLTVV1Homo sapiens
E161----VEGLTVD1Mus musculus
E161----VEGLTVE1Rattus norvegicus
E235GGSGSELTFGG2Mus musculus, Rattus norvegicus
E235GGAGSELIFGG1Homo sapiens
F238GSELTFGGYDP2Mus musculus, Rattus norvegicus
F238GSELIFGGYDH1Homo sapiens
F79LDMEYFGTISI2Homo sapiens, Mus musculus
F79LDMEYFGTVSI1Rattus norvegicus
F95NFTVIFDTGSS3Homo sapiens, Mus musculus, Rattus norvegicus
G231SDPQGGSGSEL2Mus musculus, Rattus norvegicus
G231SNPEGGAGSEL1Homo sapiens
G240ELTFGGYDPSH2Mus musculus, Rattus norvegicus
G240ELIFGGYDHSH1Homo sapiens
I237SGSELTFGGYD2Mus musculus, Rattus norvegicus
I237AGSELIFGGYD1Homo sapiens
L163TQVEGLTVVGQ1Homo sapiens
L163--VEGLTVDGQ1Mus musculus
L163--VEGLTVEGQ1Rattus norvegicus
L236GSGSELTFGGY2Mus musculus, Rattus norvegicus
L236GAGSELIFGGY1Homo sapiens
S234QGGSGSELTFG2Mus musculus, Rattus norvegicus
S234EGGAGSELIFG1Homo sapiens
V160-----VEGLTV2Mus musculus, Rattus norvegicus
V160AFATQVEGLTV1Homo sapiens
Y78YLDMEYFGTIS2Homo sapiens, Mus musculus
Y78YLDMEYFGTVS1Rattus norvegicus

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