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mutLBSgeneDB |
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| Gene summary for CTSC |
 Gene summary |
| Basic gene Info. | Gene symbol | CTSC |
| Gene name | cathepsin C | |
| Synonyms | CPPI|DPP-I|DPP1|DPPI|HMS|JP|JPD|PALS|PDON1|PLS | |
| Cytomap | UCSC genome browser: 11q14.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001114173.1, NM_001814.4,NM_148170.3, | |
| Description | cathepsin Jdipeptidyl peptidase 1dipeptidyl peptidase Idipeptidyl transferasedipeptidyl-peptidase I | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 602365 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000109861 | ||
| HPRD : 03841 | ||
| Vega : OTTHUMG00000167290 | ||
| Protein | UniProt: P53634 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CTSC | |
| BioGPS: 1075 | ||
| Pathway | NCI Pathway Interaction Database: CTSC | |
| KEGG: CTSC | ||
| REACTOME: CTSC | ||
| Pathway Commons: CTSC | ||
| Context | iHOP: CTSC | |
| ligand binding site mutation search in PubMed: CTSC | ||
| UCL Cancer Institute: CTSC | ||
| 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 | 8811434 |
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| Ligand binding site mutations for CTSC |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Q252 | Q252E | LUSC | 1 | N404 | N404K | SKCM | 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 CTSC |
| 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 | N404 | N404K | -0.84812364 | Q252 | Q252E | -0.30338679 |
| (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 CTSC from PDB |
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| Differential gene expression and gene-gene network for CTSC |
| 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 CTSC |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0030360 | Papillon-Lefevre Disease | 47 | Biomarker, GeneticVariation |
| umls:C0031106 | Aggressive Periodontitis | 8 | Biomarker, GeneticVariation |
| umls:C1855627 | Keratosis palmoplantaris with periodontopathia and onychogryposis | 5 | Biomarker, GeneticVariation |
| umls:C0031090 | Periodontal Diseases | 5 | Biomarker, GeneticVariation |
| umls:C0162820 | Dermatitis, Allergic Contact | 1 | Biomarker |
| umls:C0242656 | Disease Progression | 1 | Biomarker |
| umls:C0151744 | Myocardial Ischemia | 1 | Biomarker |
| umls:C0038356 | Stomach Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CTSC |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CTSC 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 CTSC |
| Multiple alignments for P53634 in multiple species |
| LBS | AA sequence | # species | Species | A373 | GPMAVAFEVYD | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | A373 | GPMAVAFEVHD | 2 | Mus musculus, Rattus norvegicus | A406 | ELTNHAVLLVG | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | C258 | ESCGSCYSFAS | 2 | Mus musculus, Rattus norvegicus | C258 | ASCGSCYSFAS | 1 | Homo sapiens | C258 | ASCGSCYAFAS | 1 | Canis lupus familiaris | C258 | GSCGSCYSFAS | 1 | Bos taurus | D25 | GAVRCDTPANC | 1 | Homo sapiens | D25 | CTVRSDTPANC | 1 | Mus musculus | D25 | CTVSSDTPANC | 1 | Rattus norvegicus | D25 | -----DTPANC | 1 | Canis lupus familiaris | D25 | GSVRGDTPANC | 1 | Bos taurus | E299 | YAQGCEGGFPY | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | E299 | YAQGCDGGFPY | 2 | Mus musculus, Rattus norvegicus | F302 | GCEGGFPYLIA | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | F302 | GCDGGFPYLIA | 2 | Mus musculus, Rattus norvegicus | G256 | NQESCGSCYSF | 2 | Mus musculus, Rattus norvegicus | G256 | NQASCGSCYSF | 1 | Homo sapiens | G256 | NQASCGSCYAF | 1 | Canis lupus familiaris | G256 | NQGSCGSCYSF | 1 | Bos taurus | G300 | AQGCEGGFPYL | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | G300 | AQGCDGGFPYL | 2 | Mus musculus, Rattus norvegicus | G301 | QGCEGGFPYLI | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | G301 | QGCDGGFPYLI | 2 | Mus musculus, Rattus norvegicus | H405 | FELTNHAVLLV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | N404 | PFELTNHAVLL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | P27 | VRCDTPANCTY | 1 | Homo sapiens | P27 | VRSDTPANCTY | 1 | Mus musculus | P27 | VSSDTPANCTY | 1 | Rattus norvegicus | P27 | ---DTPANCTH | 1 | Canis lupus familiaris | P27 | VRGDTPANCTY | 1 | Bos taurus | P303 | CEGGFPYLIAG | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | P303 | CDGGFPYLIAG | 2 | Mus musculus, Rattus norvegicus | Q252 | SPVRNQASCGS | 2 | Homo sapiens, Canis lupus familiaris | Q252 | SPVRNQESCGS | 2 | Mus musculus, Rattus norvegicus | Q252 | TPVRNQGSCGS | 1 | Bos taurus | S257 | QESCGSCYSFA | 2 | Mus musculus, Rattus norvegicus | S257 | QASCGSCYSFA | 1 | Homo sapiens | S257 | QASCGSCYAFA | 1 | Canis lupus familiaris | S257 | QGSCGSCYSFA | 1 | Bos taurus | T26 | AVRCDTPANCT | 1 | Homo sapiens | T26 | TVRSDTPANCT | 1 | Mus musculus | T26 | TVSSDTPANCT | 1 | Rattus norvegicus | T26 | ----DTPANCT | 1 | Canis lupus familiaris | T26 | SVRGDTPANCT | 1 | Bos taurus | T403 | NPFELTNHAVL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | Y259 | SCGSCYSFASM | 3 | Homo sapiens, Mus musculus, Bos taurus | Y259 | SCGSCYSFASL | 1 | Rattus norvegicus | Y259 | SCGSCYAFAST | 1 | Canis lupus familiaris | Y88 | HFTIIYNQGFE | 3 | Homo sapiens, Canis lupus familiaris, Bos taurus | Y88 | HFTLIYNQGFE | 1 | Mus musculus | Y88 | YFTLIYNQGFE | 1 | Rattus norvegicus |
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