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mutLBSgeneDB |
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| Gene summary for CTRC |
 Gene summary |
| Basic gene Info. | Gene symbol | CTRC |
| Gene name | chymotrypsin C (caldecrin) | |
| Synonyms | CLCR|ELA4 | |
| Cytomap | UCSC genome browser: 1p36.21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_007272.2, | |
| Description | caldecrinchymotrypsin-Celastase 4elastase IVserum calcium decreasing factor | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601405 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000162438 | ||
| HPRD : 03242 | ||
| Vega : OTTHUMG00000002255 | ||
| Protein | UniProt: Q99895 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CTRC | |
| BioGPS: 11330 | ||
| Pathway | NCI Pathway Interaction Database: CTRC | |
| KEGG: CTRC | ||
| REACTOME: CTRC | ||
| Pathway Commons: CTRC | ||
| Context | iHOP: CTRC | |
| ligand binding site mutation search in PubMed: CTRC | ||
| UCL Cancer Institute: CTRC | ||
| 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 |
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| Ligand binding site mutations for CTRC |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C141 | P143S | KIRC | 1 | S228 | G227D | 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 CTRC |
| 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 | C141 | P143S | -0.82109145 | S228 | G227D | -0.74089146 |
| (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 CTRC from PDB |
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| Differential gene expression and gene-gene network for CTRC |
| 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 CTRC |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0149521 | Pancreatitis, Chronic | 14 | Biomarker, GeneticVariation |
| umls:C0238339 | Hereditary pancreatitis | 6 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CTRC |
| 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 CTRC 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 CTRC |
| Multiple alignments for Q99895 in multiple species |
| LBS | AA sequence | # species | Species | C141 | TIQVACLPEKD | 1 | Homo sapiens | C141 | TIQVACIPEQD | 1 | Mus musculus | C141 | TIQVACIPEEG | 1 | Rattus norvegicus | C141 | TIQVACLPEEG | 1 | Bos taurus | D135 | HVELSDTIQVA | 1 | Homo sapiens | D135 | PVELSDTIQVA | 1 | Mus musculus | D135 | PVELSNTIQVA | 1 | Rattus norvegicus | D135 | TVELSDTIQVA | 1 | Bos taurus | P42 | VPNSWPWQVSL | 2 | Mus musculus, Rattus norvegicus | P42 | RPHSWPWQISL | 1 | Homo sapiens | P42 | IPHSWPWQISL | 1 | Bos taurus | Q175 | AEVLQQGLQPI | 2 | Mus musculus, Rattus norvegicus | Q175 | ADKLQQGLQPV | 1 | Homo sapiens | Q175 | AAELQQGLQPV | 1 | Bos taurus | R37 | GGEDAVPNSWP | 2 | Mus musculus, Rattus norvegicus | R37 | GGEDARPHSWP | 1 | Homo sapiens | R37 | GGEDAIPHSWP | 1 | Bos taurus | S228 | QLENGSWEVFG | 1 | Homo sapiens | S228 | PVEDGLWQVHG | 1 | Mus musculus | S228 | QAEDGSWQVHG | 1 | Rattus norvegicus | S228 | QAENGNWDVRG | 1 | Bos taurus | S40 | DAVPNSWPWQV | 2 | Mus musculus, Rattus norvegicus | S40 | DARPHSWPWQI | 1 | Homo sapiens | S40 | DAIPHSWPWQI | 1 | Bos taurus | V139 | SDTIQVACLPE | 2 | Homo sapiens, Bos taurus | V139 | SDTIQVACIPE | 1 | Mus musculus | V139 | SNTIQVACIPE | 1 | Rattus norvegicus | W229 | LENGSWEVFGI | 1 | Homo sapiens | W229 | VEDGLWQVHGI | 1 | Mus musculus | W229 | AEDGSWQVHGI | 1 | Rattus norvegicus | W229 | AENGNWDVRGI | 1 | Bos taurus | W41 | AVPNSWPWQVS | 2 | Mus musculus, Rattus norvegicus | W41 | ARPHSWPWQIS | 1 | Homo sapiens | W41 | AIPHSWPWQIS | 1 | Bos taurus | W43 | PHSWPWQISLQ | 2 | Homo sapiens, Bos taurus | W43 | PNSWPWQVSLQ | 2 | Mus musculus, Rattus norvegicus | Y156 | KDYPCYVTGWG | 1 | Homo sapiens | Y156 | GDYPCYVTGWG | 1 | Mus musculus | Y156 | QDYPCYVTGWG | 1 | Rattus norvegicus | Y156 | QDYPCFVTGWG | 1 | Bos taurus |
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