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 CTSV
Gene summary
Basic gene Info.Gene symbolCTSV
Gene namecathepsin V
SynonymsCATL2|CTSL2|CTSU
CytomapUCSC genome browser: 9q22.2
Type of geneprotein-coding
RefGenesNM_001201575.1,
NM_001333.3,
Descriptioncathepsin L2cathepsin L2, preproproteincathepsin U
Modification date20141207
dbXrefs MIM : 603308
HGNC : HGNC
Ensembl : ENSG00000136943
HPRD : 04495
ProteinUniProt: O60911
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CTSV
BioGPS: 1515
PathwayNCI Pathway Interaction Database: CTSV
KEGG: CTSV
REACTOME: CTSV
Pathway Commons: CTSV
ContextiHOP: CTSV
ligand binding site mutation search in PubMed: CTSV
UCL Cancer Institute: CTSV
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 CTSV

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G180G180ABRCA1
W303S302RCOAD1
G181G181VLUAD1
A249V248ILUSC1
A249S247FSKCM1
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 CTSV
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
W303S302R-0.95839588
G181G181V-0.77954194
A249V248I-0.63915689
A249S247F-0.52853525
G180G180A-0.33673198
(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 CTSV from PDB

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Differential gene expression and gene-gene network for CTSV
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 CTSV and the right PPI network was created from samples without mutations in the LBS of CTSV. 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 CTSV
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 CTSV
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
ExperimentalDB028693-amino-5-phenylpentaneSmall molecule
ExperimentalDB044514-Methylpiperazin-1-Yl Carbonyl GroupSmall molecule

Gene-centered ligand-gene interaction network

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


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Conservation information for LBS of CTSV
Multiple alignments for O60911 in multiple species
LBSAA sequence# speciesSpecies
A249GPISVAMDASH2Mus musculus, Rattus norvegicus
A249GPISVAIDAGH2Canis lupus familiaris, Bos taurus
A249GPISVAMDAGH1Homo sapiens
A249QPISVMISAAN1Arabidopsis thaliana
A249QPVSVAIEASS1Arabidopsis thaliana
A249QPISIAIEAGG1Arabidopsis thaliana
A249QPVSVAIDAGG1Oryza sativa subsp. japonica
A249QPVSVAIEAGG1Oryza sativa subsp. japonica
A249GPVSVAIDASH1Drosophila melanogaster
C138GQCGSCWAFSA6Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
C138KQCGSCWAFSA1Homo sapiens
C138GECGSCWAFAA1Arabidopsis thaliana
C138GNCGSCWAFSA1Arabidopsis thaliana
C138GGCGSCWAFST1Arabidopsis thaliana
C138GHCGSCWAFSS1Drosophila melanogaster
C178QGNQGCNGGLM3Mus musculus, Rattus norvegicus, Bos taurus
C178QGNQGCNGGFM1Homo sapiens
C178NDNFGCAGGGA1Arabidopsis thaliana
C178FVNAGCDGGIM1Arabidopsis thaliana
C178Y-NEGCNGGLM1Arabidopsis thaliana
C178GQNSGCNGGIM1Oryza sativa subsp. japonica
C178GQNSGCNGGLM1Oryza sativa subsp. japonica
C178YGNNGCNGGLM1Drosophila melanogaster
C178QGNEGCNGGLM1Canis lupus familiaris
D276SSKDLDHGVLV3Rattus norvegicus, Canis lupus familiaris, Bos taurus
D276SSKNLDHGVLV1Homo sapiens
D276SNLWGDHNVLI1Arabidopsis thaliana
D276GI-SLDHGVVV1Arabidopsis thaliana
D276GT-QLDHGVVA1Arabidopsis thaliana
D276GT-NLDHGVVA1Oryza sativa subsp. japonica
D276GT-SLDHGVVA1Oryza sativa subsp. japonica
D276DAQNLDHGVLV1Drosophila melanogaster
D276SSKNLDHGVLL1Mus musculus
F182GCNGGLMDNAF3Drosophila melanogaster, Canis lupus familiaris, Bos taurus
F182GCNGGLMDFAF2Mus musculus, Rattus norvegicus
F182GCNGGFMARAF1Homo sapiens
F182GCAGGGAVWAF1Arabidopsis thaliana
F182GCDGGIMNYAF1Arabidopsis thaliana
F182GCNGGLMDYAF1Arabidopsis thaliana
F182GCNGGIMDDAF1Oryza sativa subsp. japonica
F182GCNGGLMDDAF1Oryza sativa subsp. japonica
G136NQGQCGSCWAF6Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
G136NQKQCGSCWAF1Homo sapiens
G136RQGECGSCWAF1Arabidopsis thaliana
G136DQGNCGSCWAF1Arabidopsis thaliana
G136DQGGCGSCWAF1Arabidopsis thaliana
G136DQGHCGSCWAF1Drosophila melanogaster
G180NQGCNGGLMDF2Mus musculus, Rattus norvegicus
G180NQGCNGGFMAR1Homo sapiens
G180NFGCAGGGAVW1Arabidopsis thaliana
G180NAGCDGGIMNY1Arabidopsis thaliana
G180NEGCNGGLMDY1Arabidopsis thaliana
G180NSGCNGGIMDD1Oryza sativa subsp. japonica
G180NSGCNGGLMDD1Oryza sativa subsp. japonica
G180NNGCNGGLMDN1Drosophila melanogaster
G180NEGCNGGLMDN1Canis lupus familiaris
G180NQGCNGGLMDN1Bos taurus
G181QGCNGGLMDFA2Mus musculus, Rattus norvegicus
G181QGCNGGFMARA1Homo sapiens
G181FGCAGGGAVWA1Arabidopsis thaliana
G181AGCDGGIMNYA1Arabidopsis thaliana
G181EGCNGGLMDYA1Arabidopsis thaliana
G181SGCNGGIMDDA1Oryza sativa subsp. japonica
G181SGCNGGLMDDA1Oryza sativa subsp. japonica
G181NGCNGGLMDNA1Drosophila melanogaster
G181EGCNGGLMDNA1Canis lupus familiaris
G181QGCNGGLMDNA1Bos taurus
H277SKDLDHGVLVV3Rattus norvegicus, Canis lupus familiaris, Bos taurus
H277SKNLDHGVLVV1Homo sapiens
H277NLWGDHNVLIV1Arabidopsis thaliana
H277I-SLDHGVVVV1Arabidopsis thaliana
H277T-QLDHGVVAV1Arabidopsis thaliana
H277T-NLDHGVVAV1Oryza sativa subsp. japonica
H277T-SLDHGVVAV1Oryza sativa subsp. japonica
H277AQNLDHGVLVV1Drosophila melanogaster
H277SKNLDHGVLLV1Mus musculus
L275CSSKDLDHGVL3Rattus norvegicus, Canis lupus familiaris, Bos taurus
L275CSSKNLDHGVL2Homo sapiens, Mus musculus
L275CSNLWGDHNVL1Arabidopsis thaliana
L275CGI-SLDHGVV1Arabidopsis thaliana
L275CGT-QLDHGVV1Arabidopsis thaliana
L275CGT-NLDHGVV1Oryza sativa subsp. japonica
L275CGT-SLDHGVV1Oryza sativa subsp. japonica
L275CDAQNLDHGVL1Drosophila melanogaster
N179GNQGCNGGLMD3Mus musculus, Rattus norvegicus, Bos taurus
N179GNQGCNGGFMA1Homo sapiens
N179DNFGCAGGGAV1Arabidopsis thaliana
N179VNAGCDGGIMN1Arabidopsis thaliana
N179-NEGCNGGLMD1Arabidopsis thaliana
N179QNSGCNGGIMD1Oryza sativa subsp. japonica
N179QNSGCNGGLMD1Oryza sativa subsp. japonica
N179GNNGCNGGLMD1Drosophila melanogaster
N179GNEGCNGGLMD1Canis lupus familiaris
Q132TPVKNQGQCGS4Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
Q132APVKNQGQCGS2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
Q132TPVKNQKQCGS1Homo sapiens
Q132PRVKRQGECGS1Arabidopsis thaliana
Q132VSVKDQGNCGS1Arabidopsis thaliana
Q132AEVKDQGGCGS1Arabidopsis thaliana
Q132TAVKDQGHCGS1Drosophila melanogaster
Q176RPQGNQGCNGG1Homo sapiens
Q176RGNDNFGCAGG1Arabidopsis thaliana
Q176RGFVNAGCDGG1Arabidopsis thaliana
Q176TSY-NEGCNGG1Arabidopsis thaliana
Q176RNGQNSGCNGG1Oryza sativa subsp. japonica
Q176TNGQNSGCNGG1Oryza sativa subsp. japonica
Q176TKYGNNGCNGG1Drosophila melanogaster
Q176HAQGNQGCNGG1Mus musculus
Q176HDQGNQGCNGG1Rattus norvegicus
Q176RAQGNEGCNGG1Canis lupus familiaris
Q176RAQGNQGCNGG1Bos taurus
W139QCGSCWAFSAT3Homo sapiens, Canis lupus familiaris, Bos taurus
W139QCGSCWAFSAV2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
W139QCGSCWAFSAS2Mus musculus, Rattus norvegicus
W139ECGSCWAFAAT1Arabidopsis thaliana
W139NCGSCWAFSAV1Arabidopsis thaliana
W139GCGSCWAFSTI1Arabidopsis thaliana
W139HCGSCWAFSST1Drosophila melanogaster
W303IVKNSWGPEWG2Canis lupus familiaris, Bos taurus
W303LVKNSWGPEWG1Homo sapiens
W303LIRNSWGPEWG1Arabidopsis thaliana
W303IIRNSWGLNWG1Arabidopsis thaliana
W303IVRNSWGKSWG1Arabidopsis thaliana
W303TVRNSWGPDWG1Oryza sativa subsp. japonica
W303IVRNSWGPKWG1Oryza sativa subsp. japonica
W303LVKNSWGTTWG1Drosophila melanogaster
W303LVKNSWGSEWG1Mus musculus
W303LVKNSWGKEWG1Rattus norvegicus


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