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 CTSK
Gene summary
Basic gene Info.Gene symbolCTSK
Gene namecathepsin K
SynonymsCTS02|CTSO|CTSO1|CTSO2|PKND|PYCD
CytomapUCSC genome browser: 1q21
Type of geneprotein-coding
RefGenesNM_000396.3,
Descriptioncathepsin Ocathepsin O1cathepsin O2cathepsin X
Modification date20141222
dbXrefs MIM : 601105
HGNC : HGNC
Ensembl : ENSG00000143387
HPRD : 03064
Vega : OTTHUMG00000035008
ProteinUniProt: P43235
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CTSK
BioGPS: 1513
PathwayNCI Pathway Interaction Database: CTSK
KEGG: CTSK
REACTOME: CTSK
Pathway Commons: CTSK
ContextiHOP: CTSK
ligand binding site mutation search in PubMed: CTSK
UCL Cancer Institute: CTSK
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:0030574collagen catabolic process22952693
GO:0051603proteolysis involved in cellular protein catabolic process22952693


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Ligand binding site mutations for CTSK

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G178G178VLUAD1
Y181Y181HSKCM1
K123K123NUCEC1
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 CTSK
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
G178G178V0.13779751
Y181Y181H-0.99793102
K123K123N-0.95710279
(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 CTSK from PDB

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Differential gene expression and gene-gene network for CTSK
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 CTSK and the right PPI network was created from samples without mutations in the LBS of CTSK. 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 CTSK
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0238402Pycnodysostosis29Biomarker, GeneticVariation

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

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Pharmacological information for CTSK
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
ExperimentalDB01858[1-(4-Fluorobenzyl)Cyclobutyl]Methyl (1s)-1-[Oxo(1h-Pyrazol-5-Ylamino)Acetyl]PentylcarbamateSmall molecule
ExperimentalDB028693-amino-5-phenylpentaneSmall molecule
ExperimentalDB034051-[N[(Phenylmethoxy)Carbonyl]-L-Leucyl-4-[[N/N-[(Phenylmethoxy)Carbonyl]-/Nl-Leucyl]Amino]-3-Pyrrolidinone/NSmall molecule
ExperimentalDB03456N2-[(benzyloxy)carbonyl]-n1-[(3S)-1-cyanopyrrolidin-3-yl]-l-leucinamideSmall molecule
ExperimentalDB03642Benzofuran-2-Carboxylic Acid {(S)-3-Methyl-1-[3-Oxo-1-(Pyridin-2-Ylsulfonyl)Azepan-4-Ylcarbamoyl]Butyl}AmideSmall molecule
ExperimentalDB038911,5-Bis(N-Benzyloxycarbonyl-L-Leucinyl)CarbohydrazideSmall molecule
ExperimentalDB04234N2-({[(4-Bromophenyl)Methyl]Oxy}Carbonyl)-N1-[(1s)-1-Formylpentyl]-L-LeucinamideSmall molecule
ExperimentalDB042441-[2-(3-Biphenyl)-4-Methylvaleryl)]Amino-3-(2-Pyridylsulfonyl)Amino-2-PropanoneSmall molecule
ExperimentalDB04523Tert-Butyl(1s)-1-Cyclohexyl-2-OxoethylcarbamateSmall molecule
InvestigationalDB05736MIV-701Small molecule
ExperimentalDB075631-{7-cyclohexyl-6-[4-(4-methylpiperazin-1-yl)benzyl]-7H-pyrrolo[2,3-d]pyrimidin-2-yl}methanamineSmall molecule
ExperimentalDB07592(1R)-2-METHYL-1-(PHENYLMETHYL)PROPYL[(1S)-1-FORMYLPENTYL]CARBAMATESmall molecule
ExperimentalDB075931-(PHENYLMETHYL)CYCLOPENTYL[(1S)-1-FORMYLPENTYL]CARBAMATESmall molecule
ExperimentalDB079656-(cyclohexylamino)-9-[2-(4-methylpiperazin-1-yl)-ethyl]-9H-purine-2-carbonitrileSmall molecule
ExperimentalDB079679-CYCLOPENTYL-6-[2-(3-IMIDAZOL-1-YL-PROPOXY)-PHENYLAMINO]-9H-PURINE-2-CARBONITRILESmall molecule
ExperimentalDB08270N-(2-AMINOETHYL)-N~2~-{(1S)-1-[4'-(AMINOSULFONYL)BIPHENYL-4-YL]-2,2,2-TRIFLUOROETHYL}-L-LEUCINAMIDESmall molecule
ExperimentalDB08287(1R,2R)-N-(2-AMINOETHYL)-2-{[(4-METHOXYPHENYL)SULFONYL]METHYL}CYCLOHEXANECARBOXAMIDESmall molecule
ExperimentalDB08594TERT-BUTYL 2-CYANO-2-METHYLHYDRAZINECARBOXYLATESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CTSK go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FSP[1-(4-FLUOROBENZYL)CYCLOBUTYL]METHYL (1S)-1-[OXO(1H-PYRAZOL-5-YLAMINO)ACETYL]PENTYLCARBAMATE1tu6AG178 Y181
FSP[1-(4-FLUOROBENZYL)CYCLOBUTYL]METHYL (1S)-1-[OXO(1H-PYRAZOL-5-YLAMINO)ACETYL]PENTYLCARBAMATE1tu6BG178 Y181


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Conservation information for LBS of CTSK
Multiple alignments for P43235 in multiple species
LBSAA sequence# speciesSpecies
A115EWEGRVPDSID2Mus musculus, Rattus norvegicus
A115DWEGRAPDSVD2Macaca mulatta, Bos taurus
A115EWEGRAPDSVD1Homo sapiens
A115DWESRAPDSVD1Canis lupus familiaris
A248GPVSVAIDASL2Homo sapiens, Macaca mulatta
A248GPISVAIDASL2Canis lupus familiaris, Bos taurus
A248GPISVSIDASL1Mus musculus
A248GPVSVSIDASL1Rattus norvegicus
A251SVAIDASLTSF4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
A251SVSIDASLASF1Mus musculus
A251SVSIDASLTSF1Rattus norvegicus
A277DNLNHAVLAVG4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
A277DNVNHAVLVVG2Mus musculus, Rattus norvegicus
C136KNQGQCGSCWA6Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Canis lupus familiaris, Bos taurus
C139GQCGSCWAFSS6Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Canis lupus familiaris, Bos taurus
C177SENDGCGGGYM4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
C177TENYGCGGGYM1Mus musculus
C177SENYGCGGGYM1Rattus norvegicus
D120APDSVDYRKKG4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
D120VPDSIDYRKKG2Mus musculus, Rattus norvegicus
D175CVSENDGCGGG4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
D175CVTENYGCGGG1Mus musculus
D175CVSENYGCGGG1Rattus norvegicus
E173VDCVSENDGCG4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
E173VDCVTENYGCG1Mus musculus
E173VDCVSENYGCG1Rattus norvegicus
G134PVKNQGQCGSC6Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Canis lupus familiaris, Bos taurus
G137NQGQCGSCWAF6Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Canis lupus familiaris, Bos taurus
G178ENDGCGGGYMT4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
G178ENYGCGGGYMT2Mus musculus, Rattus norvegicus
G179NDGCGGGYMTN4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
G179NYGCGGGYMTT2Mus musculus, Rattus norvegicus
G180DGCGGGYMTNA4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
G180YGCGGGYMTTA2Mus musculus, Rattus norvegicus
G205AYPYVGQDESC3Mus musculus, Rattus norvegicus, Canis lupus familiaris
G205AYPYVGQEESC2Homo sapiens, Macaca mulatta
G205AYPYVGQDENC1Bos taurus
G262QFYSKGVYYDE3Homo sapiens, Macaca mulatta, Canis lupus familiaris
G262QFYSRGVYYDE2Mus musculus, Rattus norvegicus
G262QFYRKGVYYDE1Bos taurus
G284LAVGYGIQKGN4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
G284LVVGYGTQKGS1Mus musculus
G284LVVGYGTQKGN1Rattus norvegicus
H276SDNLNHAVLAV4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
H276RDNVNHAVLVV2Mus musculus, Rattus norvegicus
I285AVGYGIQKGNK4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
I285VVGYGTQKGSK1Mus musculus
I285VVGYGTQKGNK1Rattus norvegicus
K123SVDYRKKGYVT4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
K123SIDYRKKGYVT2Mus musculus, Rattus norvegicus
K124VDYRKKGYVTP4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
K124IDYRKKGYVTP2Mus musculus, Rattus norvegicus
K233PEGNEKALKRA4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
K233PVGNEKALKRA2Mus musculus, Rattus norvegicus
K236NEKALKRAVAR6Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Canis lupus familiaris, Bos taurus
K287GYGIQKGNKHW4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
K287GYGTQKGSKHW1Mus musculus
K287GYGTQKGNKYW1Rattus norvegicus
K290IQKGNKHWIIK4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
K290TQKGSKHWIIK1Mus musculus
K290TQKGNKYWIIK1Rattus norvegicus
K305ENWGNKGYILM4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
K305ESWGNKGYALL1Mus musculus
K305ESWGNKGYVLL1Rattus norvegicus
L274CNSDNLNHAVL4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
L274CDRDNVNHAVL2Mus musculus, Rattus norvegicus
L309NKGYILMARNK4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
L309NKGYALLARNK1Mus musculus
L309NKGYVLLARNK1Rattus norvegicus
L323CGIANLASFPK4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
L323CGITNMASFPK1Mus musculus
L323CGITNLASFPK1Rattus norvegicus
M182CGGGYMTNAFQ4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
M182CGGGYMTTAFQ2Mus musculus, Rattus norvegicus
N132VTPVKNQGQCG6Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Canis lupus familiaris, Bos taurus
N174DCVSENDGCGG4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
N174DCVTENYGCGG1Mus musculus
N174DCVSENYGCGG1Rattus norvegicus
N184GGYMTNAFQYV4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
N184GGYMTTAFQYV2Mus musculus, Rattus norvegicus
N275NSDNLNHAVLA4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
N275DRDNVNHAVLV2Mus musculus, Rattus norvegicus
N304GENWGNKGYIL4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
N304GESWGNKGYAL1Mus musculus
N304GESWGNKGYVL1Rattus norvegicus
N313ILMARNKNNAC4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
N313ALLARNKNNAC1Mus musculus
N313VLLARNKNNAC1Rattus norvegicus
P116WEGRAPDSVDY3Homo sapiens, Macaca mulatta, Bos taurus
P116WEGRVPDSIDY2Mus musculus, Rattus norvegicus
P116WESRAPDSVDY1Canis lupus familiaris
Q133TPVKNQGQCGS6Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Canis lupus familiaris, Bos taurus
Q135VKNQGQCGSCW6Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Canis lupus familiaris, Bos taurus
Q187MTNAFQYVQKN4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
Q187MTTAFQYVQQN2Mus musculus, Rattus norvegicus
Q257SLTSFQFYSKG3Homo sapiens, Macaca mulatta, Canis lupus familiaris
Q257SLASFQFYSRG1Mus musculus
Q257SLTSFQFYSRG1Rattus norvegicus
Q257SLTSFQFYRKG1Bos taurus
Q286VGYGIQKGNKH4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
Q286VGYGTQKGSKH1Mus musculus
Q286VGYGTQKGNKY1Rattus norvegicus
R122DSVDYRKKGYV4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
R122DSIDYRKKGYV2Mus musculus, Rattus norvegicus
R237EKALKRAVARV6Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Canis lupus familiaris, Bos taurus
R241KRAVARVGPVS3Homo sapiens, Rattus norvegicus, Macaca mulatta
R241KRAVARVGPIS3Mus musculus, Canis lupus familiaris, Bos taurus
R312YILMARNKNNA4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
R312YALLARNKNNA1Mus musculus
R312YVLLARNKNNA1Rattus norvegicus
S138QGQCGSCWAFS6Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Canis lupus familiaris, Bos taurus
S172LVDCVSENDGC4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
S172LVDCVTENYGC1Mus musculus
S172LVDCVSENYGC1Rattus norvegicus
S252VAIDASLTSFQ4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
S252VSIDASLASFQ1Mus musculus
S252VSIDASLTSFQ1Rattus norvegicus
V119RAPDSVDYRKK4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
V119RVPDSIDYRKK2Mus musculus, Rattus norvegicus
V204DAYPYVGQDES3Mus musculus, Rattus norvegicus, Canis lupus familiaris
V204DAYPYVGQEES2Homo sapiens, Macaca mulatta
V204DAYPYVGQDEN1Bos taurus
W140QCGSCWAFSSV4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
W140QCGSCWAFSSA2Mus musculus, Rattus norvegicus
W298IIKNSWGENWG4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
W298IIKNSWGESWG2Mus musculus, Rattus norvegicus
W302SWGENWGNKGY4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
W302SWGESWGNKGY2Mus musculus, Rattus norvegicus
Y181GCGGGYMTNAF4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
Y181GCGGGYMTTAF2Mus musculus, Rattus norvegicus
Y283VLAVGYGIQKG4Homo sapiens, Macaca mulatta, Canis lupus familiaris, Bos taurus
Y283VLVVGYGTQKG2Mus musculus, Rattus norvegicus


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