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 CTSL
Gene summary
Basic gene Info.Gene symbolCTSL
Gene namecathepsin L
SynonymsCATL|CTSL1|MEP
CytomapUCSC genome browser: 9q21.33
Type of geneprotein-coding
RefGenesNM_001257971.1,
NM_001257972.1,NM_001257973.1,NM_001912.4,NM_145918.2,
Descriptioncathepsin L1major excreted protein
Modification date20141207
dbXrefs MIM : 116880
HGNC : HGNC
Ensembl : ENSG00000135047
HPRD : 00293
Vega : OTTHUMG00000020149
ProteinUniProt: P07711
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CTSL
BioGPS: 1514
PathwayNCI Pathway Interaction Database: CTSL
KEGG: CTSL
REACTOME: CTSL
Pathway Commons: CTSL
ContextiHOP: CTSL
ligand binding site mutation search in PubMed: CTSL
UCL Cancer Institute: CTSL
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
GO:0006508proteolysis21326229
GO:0030574collagen catabolic process22952693
GO:0051603proteolysis involved in cellular protein catabolic process22952693


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Ligand binding site mutations for CTSL

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
L182L182PCOAD1
F258F258LCOAD1
Y185A186PLUAD1
W306G307SLUSC1
S137S137YUCEC1
M183M183IUCEC1
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 CTSL
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
L182L182P-1.1410658
W306G307S-1.0588643
Y185A186P-0.87278702
F258F258L-0.81898902
S137S137Y-0.61693655
M183M183I-0.077516459
(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 CTSL from PDB

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Differential gene expression and gene-gene network for CTSL
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 CTSL and the right PPI network was created from samples without mutations in the LBS of CTSL. 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 CTSL
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0025286Meningioma2AlteredExpression, Biomarker
umls:C0033687Proteinuria1Biomarker
umls:C2825055Recurrence1Biomarker
umls:C0038356Stomach Neoplasms1Biomarker

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

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Pharmacological information for CTSL
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
ExperimentalDB03661Cysteinesulfonic AcidSmall molecule
ExperimentalDB07477BIPHENYL-4-YL-ACETALDEHYDESmall molecule

Gene-centered ligand-gene interaction network

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


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Conservation information for LBS of CTSL
Multiple alignments for P07711 in multiple species
LBSAA sequence# speciesSpecies
A248QPVSVAIDAGS2Arabidopsis thaliana, Arabidopsis thaliana
A248GPISVAIDAGH1Homo sapiens
A248QPVSVAIDAGG1Arabidopsis thaliana
A251SVAIDAGSSDF2Arabidopsis thaliana, Arabidopsis thaliana
A251SVAIDAGHESF1Homo sapiens
A251SVAIDAGGSDF1Arabidopsis thaliana
A327CGIASAASYPT1Homo sapiens
A327CGIAMEASYPL1Arabidopsis thaliana
A327CGIAMEASYPT1Arabidopsis thaliana
A327CGIAMEASYPI1Arabidopsis thaliana
C135KNQGQCGSCWA2Homo sapiens, Arabidopsis thaliana
C135KNQQDCGSCWA1Arabidopsis thaliana
C135KNQGKCGSCWA1Arabidopsis thaliana
C138GQCGSCWAFSA1Homo sapiens
C138GQCGSCWAFST1Arabidopsis thaliana
C138QDCGSCWAFST1Arabidopsis thaliana
C138GKCGSCWAFST1Arabidopsis thaliana
C178QGNEGCNGGLM1Homo sapiens
C178Q-NQGCNGGLM1Arabidopsis thaliana
C178E-NQGCAGGLM1Arabidopsis thaliana
C178Q-NEGCNGGLM1Arabidopsis thaliana
D184NGGLMDYAFQY1Homo sapiens
D184NGGLMDLAFEF1Arabidopsis thaliana
D184AGGLMEPAFEF1Arabidopsis thaliana
D184NGGLMEIAFEF1Arabidopsis thaliana
D227DTGFVDIPKQ-1Homo sapiens
D227IDGHEDVPKNS1Arabidopsis thaliana
D227IDGHEHVPEND1Arabidopsis thaliana
D227IDGHEDVPEND1Arabidopsis thaliana
D275SSEDMDHGVLV1Homo sapiens
D275GTE-LNHGVAV1Arabidopsis thaliana
D275GTQ-LNHGVVI1Arabidopsis thaliana
D275GTE-LNHGVAA1Arabidopsis thaliana
E176GPQGNEGCNGG1Homo sapiens
E176TNQ-NQGCNGG1Arabidopsis thaliana
E176TEE-NQGCAGG1Arabidopsis thaliana
E176TKQ-NEGCNGG1Arabidopsis thaliana
E254IDAGHESFLFY1Homo sapiens
E254IDAGGSDFQFY1Arabidopsis thaliana
E254IDAGSSDFQLY1Arabidopsis thaliana
E254IDAGSSDFQFY1Arabidopsis thaliana
F258HESFLFYKEGI1Homo sapiens
F258GSDFQFYSEGV1Arabidopsis thaliana
F258SSDFQLYSEGV1Arabidopsis thaliana
F258SSDFQFYSEGV1Arabidopsis thaliana
G133PVKNQGQCGSC2Homo sapiens, Arabidopsis thaliana
G133EVKNQQDCGSC1Arabidopsis thaliana
G133EIKNQGKCGSC1Arabidopsis thaliana
G136NQGQCGSCWAF2Homo sapiens, Arabidopsis thaliana
G136NQQDCGSCWAF1Arabidopsis thaliana
G136NQGKCGSCWAF1Arabidopsis thaliana
G174CSGPQGNEGCN1Homo sapiens
G174CDTNQ-NQGCN1Arabidopsis thaliana
G174CDTEE-NQGCA1Arabidopsis thaliana
G174CDTKQ-NEGCN1Arabidopsis thaliana
G180NEGCNGGLMDY1Homo sapiens
G180NQGCNGGLMDL1Arabidopsis thaliana
G180NQGCAGGLMEP1Arabidopsis thaliana
G180NEGCNGGLMEI1Arabidopsis thaliana
G181EGCNGGLMDYA1Homo sapiens
G181QGCNGGLMDLA1Arabidopsis thaliana
G181QGCAGGLMEPA1Arabidopsis thaliana
G181EGCNGGLMEIA1Arabidopsis thaliana
G252VAIDAGSSDFQ2Arabidopsis thaliana, Arabidopsis thaliana
G252VAIDAGHESFL1Homo sapiens
G252VAIDAGGSDFQ1Arabidopsis thaliana
G277EDMDHGVLVVG1Homo sapiens
G277E-LNHGVAVVG1Arabidopsis thaliana
G277Q-LNHGVVIVG1Arabidopsis thaliana
G277E-LNHGVAAVG1Arabidopsis thaliana
H253AIDAGHESFLF1Homo sapiens
H253AIDAGGSDFQF1Arabidopsis thaliana
H253AIDAGSSDFQL1Arabidopsis thaliana
H253AIDAGSSDFQF1Arabidopsis thaliana
H276SEDMDHGVLVV1Homo sapiens
H276TE-LNHGVAVV1Arabidopsis thaliana
H276TQ-LNHGVVIV1Arabidopsis thaliana
H276TE-LNHGVAAV1Arabidopsis thaliana
L182GCNGGLMDYAF1Homo sapiens
L182GCNGGLMDLAF1Arabidopsis thaliana
L182GCAGGLMEPAF1Arabidopsis thaliana
L182GCNGGLMEIAF1Arabidopsis thaliana
L257GHESFLFYKEG1Homo sapiens
L257GGSDFQFYSEG1Arabidopsis thaliana
L257GSSDFQLYSEG1Arabidopsis thaliana
L257GSSDFQFYSEG1Arabidopsis thaliana
M183CNGGLMDYAFQ1Homo sapiens
M183CNGGLMDLAFE1Arabidopsis thaliana
M183CAGGLMEPAFE1Arabidopsis thaliana
M183CNGGLMEIAFE1Arabidopsis thaliana
M274CGTE-LNHGVA2Arabidopsis thaliana, Arabidopsis thaliana
M274CSSEDMDHGVL1Homo sapiens
M274CGTQ-LNHGVV1Arabidopsis thaliana
N131VTPVKNQGQCG2Homo sapiens, Arabidopsis thaliana
N131VTEVKNQQDCG1Arabidopsis thaliana
N131VTEIKNQGKCG1Arabidopsis thaliana
N179GNEGCNGGLMD1Homo sapiens
N179-NQGCNGGLMD1Arabidopsis thaliana
N179-NQGCAGGLME1Arabidopsis thaliana
N179-NEGCNGGLME1Arabidopsis thaliana
Q132TPVKNQGQCGS2Homo sapiens, Arabidopsis thaliana
Q132TEVKNQQDCGS1Arabidopsis thaliana
Q132TEIKNQGKCGS1Arabidopsis thaliana
Q134VKNQGQCGSCW2Homo sapiens, Arabidopsis thaliana
Q134VKNQQDCGSCW1Arabidopsis thaliana
Q134IKNQGKCGSCW1Arabidopsis thaliana
S137QGQCGSCWAFS2Homo sapiens, Arabidopsis thaliana
S137QQDCGSCWAFS1Arabidopsis thaliana
S137QGKCGSCWAFS1Arabidopsis thaliana
S329IASAASYPTV-1Homo sapiens
S329IAMEASYPLKN1Arabidopsis thaliana
S329IAMEASYPTKL1Arabidopsis thaliana
S329IAMEASYPIKL1Arabidopsis thaliana
W139QCGSCWAFSAT1Homo sapiens
W139QCGSCWAFSTV1Arabidopsis thaliana
W139DCGSCWAFSTV1Arabidopsis thaliana
W139KCGSCWAFSTV1Arabidopsis thaliana
W302LVKNSWGEEWG1Homo sapiens
W302IVKNSWGEEWG1Arabidopsis thaliana
W302IVRNSWGPEWG1Arabidopsis thaliana
W302IVRNSWGAEWG1Arabidopsis thaliana
W306SWGEEWGMGGY1Homo sapiens
W306SWGEEWGEKGY1Arabidopsis thaliana
W306SWGPEWGEGGY1Arabidopsis thaliana
W306SWGAEWGEGGY1Arabidopsis thaliana
Y185GGLMDYAFQYV1Homo sapiens
Y185GGLMDLAFEFI1Arabidopsis thaliana
Y185GGLMEPAFEFI1Arabidopsis thaliana
Y185GGLMEIAFEFI1Arabidopsis thaliana


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