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mutLBSgeneDB |
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| Gene summary for CTSB |
 Gene summary |
| Basic gene Info. | Gene symbol | CTSB |
| Gene name | cathepsin B | |
| Synonyms | APPS|CPSB | |
| Cytomap | UCSC genome browser: 8p22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001908.3, NM_147780.2,NM_147781.2,NM_147782.2,NM_147783.2, | |
| Description | APP secretaseamyloid precursor protein secretasecathepsin B1cysteine protease | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 116810 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000164733 | ||
| HPRD : 00287 | ||
| Vega : OTTHUMG00000090799 | ||
| Protein | UniProt: P07858 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CTSB | |
| BioGPS: 1508 | ||
| Pathway | NCI Pathway Interaction Database: CTSB | |
| KEGG: CTSB | ||
| REACTOME: CTSB | ||
| Pathway Commons: CTSB | ||
| Context | iHOP: CTSB | |
| ligand binding site mutation search in PubMed: CTSB | ||
| UCL Cancer Institute: CTSB | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006508 | proteolysis | 7890620 | GO:0030574 | collagen catabolic process | 22952693 | GO:0051603 | proteolysis involved in cellular protein catabolic process | 22952693 |
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| Ligand binding site mutations for CTSB |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A279 | A279T | BRCA | 1 | A279 | R281S | COAD | 1 | C105 | C105R | COAD | 1 | E324 | E322K | COAD | 1 | H190 | V191I | COAD | 1 | A279 | R281H | KIRC | 1 | C198 | C198W | SKCM | 1 | A252 | A252V | UCEC | 1 |
| 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 CTSB |
| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | C105 | C105R | 0.12875105 | E324 | E322K | -0.91385145 | H190 | V191I | -0.79853244 | C198 | C198W | -0.70258507 | A252 | A252V | -0.58039685 | A279 | R281S | -0.5422737 | A279 | R281H | -0.53395939 | A279 | A279T | -0.10752581 |
| (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 CTSB from PDB |
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| Differential gene expression and gene-gene network for CTSB |
| 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) |
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| Phenotype information for CTSB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017636 | Glioblastoma | 8 | AlteredExpression, Biomarker |
| umls:C0007134 | Carcinoma, Renal Cell | 3 | Biomarker |
| umls:C0027626 | Neoplasm Invasiveness | 2 | Biomarker |
| umls:C0242656 | Disease Progression | 1 | Biomarker |
| umls:C0026848 | Muscular Diseases | 1 | Biomarker |
| umls:C0027540 | Necrosis | 1 | Biomarker |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| umls:C0033687 | Proteinuria | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CTSB |
| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB02108 | 2-Aminoethanimidic Acid | Small molecule |  |
| Experimental | DB02148 | 3-Amino-4-Oxybenzyl-2-Butanone | Small molecule |  |
| Experimental | DB02685 | 3-Methylphenylalanine | Small molecule |  |
| Experimental | DB02855 | N-(3-Propylcarbamoyloxirane-2-Carbonyl)-Isoleucyl-Proline | Small molecule |  |
| Experimental | DB03329 | 2-Pyridinethiol | Small molecule |  |
| Experimental | DB03588 | Diphenylacetic Acid | Small molecule |  |
| Experimental | DB04126 | N-[1-Hydroxycarboxyethyl-Carbonyl]Leucylamino-2-Methyl-Butane | Small molecule |  |
| Experimental | DB04579 | N-{[(2S,3S)-3-(ETHOXYCARBONYL)OXIRAN-2-YL]CARBONYL}- | Small molecule |  |
| Experimental | DB07160 | N-{[(2S,3S)-3-(ETHOXYCARBONYL)OXIRAN-2-YL]CARBONYL}-L-ISOLEUCINE | Small molecule |  |
| Experimental | DB07219 | BENZYL N-({(2S,3S)-3-[(PROPYLAMINO)CARBONYL]OXIRAN-2-YL}CARBONYL)-L-ISOLEUCYL-L-PROLINATE | Small molecule |  |
| Experimental | DB07223 | METHYL N-({(2S,3S)-3-[(PROPYLAMINO)CARBONYL]OXIRAN-2-YL}CARBONYL)-L-ISOLEUCYL-L-PROLINATE | Small molecule |  |
| Experimental | DB07224 | N-{[(2S,3S)-3-(ETHOXYCARBONYL)OXIRAN-2-YL]CARBONYL}-L-ISOLEUCYL-L-ALANINE | Small molecule |  |
| Experimental | DB07225 | N-{[(2S,3S)-3-(ETHOXYCARBONYL)OXIRAN-2-YL]CARBONYL}-L-ISOLEUCYL-L-ISOLEUCINE | Small molecule |  |
| Experimental | DB07231 | N-({(2S,3S)-3-[(BENZYLAMINO)CARBONYL]OXIRAN-2-YL}CARBONYL)-L-ISOLEUCYL-L-PROLINE | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CTSB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of CTSB |
| Multiple alignments for P07858 in multiple species |
| LBS | AA sequence | # species | Species | A252 | GPVEGAFSVYS | 2 | Homo sapiens, Bos taurus | A252 | GPVEGAFTVFS | 1 | Mus musculus | A279 | MMGGHAIRILG | 2 | Homo sapiens, Mus musculus | A279 | IMGGHAIRILG | 1 | Bos taurus | C105 | RDQGSCGSCWA | 3 | Homo sapiens, Mus musculus, Bos taurus | C108 | GSCGSCWAFGA | 3 | Homo sapiens, Mus musculus, Bos taurus | C198 | GSRPPCTGEGD | 3 | Homo sapiens, Mus musculus, Bos taurus | D148 | GSMCGDGCNGG | 1 | Homo sapiens | D148 | GIQCGDGCNGG | 1 | Mus musculus | D148 | GGECGDGCNGG | 1 | Bos taurus | E201 | PPCTGEGDTPK | 2 | Homo sapiens, Bos taurus | E201 | PPCTGEGDTPR | 1 | Mus musculus | E324 | CGIESEVVAGI | 1 | Homo sapiens | E324 | CGIESEIVAGI | 1 | Mus musculus | E324 | CGIESEIVAGM | 1 | Bos taurus | G103 | EIRDQGSCGSC | 2 | Homo sapiens, Bos taurus | G103 | QIRDQGSCGSC | 1 | Mus musculus | G106 | DQGSCGSCWAF | 3 | Homo sapiens, Mus musculus, Bos taurus | G152 | GDGCNGGYPAE | 1 | Homo sapiens | G152 | GDGCNGGYPSG | 1 | Mus musculus | G152 | GDGCNGGFPSG | 1 | Bos taurus | G153 | DGCNGGYPAEA | 1 | Homo sapiens | G153 | DGCNGGYPSGA | 1 | Mus musculus | G153 | DGCNGGFPSGA | 1 | Bos taurus | G200 | RPPCTGEGDTP | 3 | Homo sapiens, Mus musculus, Bos taurus | G277 | GEMMGGHAIRI | 1 | Homo sapiens | G277 | GDMMGGHAIRI | 1 | Mus musculus | G277 | GEIMGGHAIRI | 1 | Bos taurus | H189 | IPPCEHHVNGS | 3 | Homo sapiens, Mus musculus, Bos taurus | H190 | PPCEHHVNGSR | 3 | Homo sapiens, Mus musculus, Bos taurus | H278 | EMMGGHAIRIL | 1 | Homo sapiens | H278 | DMMGGHAIRIL | 1 | Mus musculus | H278 | EIMGGHAIRIL | 1 | Bos taurus | N151 | CGDGCNGGYPA | 1 | Homo sapiens | N151 | CGDGCNGGYPS | 1 | Mus musculus | N151 | CGDGCNGGFPS | 1 | Bos taurus | P155 | CNGGYPAEAWN | 1 | Homo sapiens | P155 | CNGGYPSGAWS | 1 | Mus musculus | P155 | CNGGFPSGAWN | 1 | Bos taurus | Q102 | KEIRDQGSCGS | 2 | Homo sapiens, Bos taurus | Q102 | GQIRDQGSCGS | 1 | Mus musculus | S104 | IRDQGSCGSCW | 3 | Homo sapiens, Mus musculus, Bos taurus | S107 | QGSCGSCWAFG | 3 | Homo sapiens, Mus musculus, Bos taurus | T199 | SRPPCTGEGDT | 3 | Homo sapiens, Mus musculus, Bos taurus | V255 | EGAFSVYSDFL | 2 | Homo sapiens, Bos taurus | V255 | EGAFTVFSDFL | 1 | Mus musculus | W109 | SCGSCWAFGAV | 3 | Homo sapiens, Mus musculus, Bos taurus | W300 | LVANSWNTDWG | 1 | Homo sapiens | W300 | LAANSWNLDWG | 1 | Mus musculus | W300 | LVGNSWNTDWG | 1 | Bos taurus | Y154 | GCNGGYPAEAW | 1 | Homo sapiens | Y154 | GCNGGYPSGAW | 1 | Mus musculus | Y154 | GCNGGFPSGAW | 1 | Bos taurus |
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