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 CTSA
Gene summary
Basic gene Info.Gene symbolCTSA
Gene namecathepsin A
SynonymsGLB2|GSL|NGBE|PPCA|PPGB
CytomapUCSC genome browser: 20q13.1
Type of geneprotein-coding
RefGenesNM_000308.2,
NM_001127695.1,NM_001167594.1,
Descriptionbeta-galactosidase 2beta-galactosidase protective proteincarboxypeptidase Ccarboxypeptidase Lcarboxypeptidase Y-like kininasecarboxypeptidase-Ldeamidaselysosomal carboxypeptidase Alysosomal protective proteinprotective protein cathepsin Aurinary
Modification date20141207
dbXrefs MIM : 613111
HGNC : HGNC
Ensembl : ENSG00000064601
HPRD : 02020
Vega : OTTHUMG00000033078
ProteinUniProt: P10619
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CTSA
BioGPS: 5476
PathwayNCI Pathway Interaction Database: CTSA
KEGG: CTSA
REACTOME: CTSA
Pathway Commons: CTSA
ContextiHOP: CTSA
ligand binding site mutation search in PubMed: CTSA
UCL Cancer Institute: CTSA
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


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Ligand binding site mutations for CTSA

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
M458M458ILUAD1
Y179Y179DLUSC1
H457A455TUCEC1
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 CTSA
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
Y179Y179D-0.88101091
H457A455T-0.43358481
M458M458I-0.054399993
(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 CTSA from PDB

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Differential gene expression and gene-gene network for CTSA
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 CTSA and the right PPI network was created from samples without mutations in the LBS of CTSA. 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 CTSA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0268233Neuraminidase deficiency with beta-galactosidase deficiency24Biomarker, GeneticVariation

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

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Pharmacological information for CTSA
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

Gene-centered ligand-gene interaction network

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


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Conservation information for LBS of CTSA
Multiple alignments for P10619 in multiple species
LBSAA sequence# speciesSpecies


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