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mutLBSgeneDB |
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| Gene summary for CMA1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CMA1 |
| Gene name | chymase 1, mast cell | |
| Synonyms | CYH|MCT1|chymase | |
| Cytomap | UCSC genome browser: 14q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001836.3, | |
| Description | alpha-chymasechymasechymase 1 preproprotein transcript Echymase 1 preproprotein transcript Ichymase, heartchymase, mast cellmast cell protease I | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 118938 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000092009 | ||
| HPRD : 00346 | ||
| Vega : OTTHUMG00000140181 | ||
| Protein | UniProt: P23946 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CMA1 | |
| BioGPS: 1215 | ||
| Pathway | NCI Pathway Interaction Database: CMA1 | |
| KEGG: CMA1 | ||
| REACTOME: CMA1 | ||
| Pathway Commons: CMA1 | ||
| Context | iHOP: CMA1 | |
| ligand binding site mutation search in PubMed: CMA1 | ||
| UCL Cancer Institute: CMA1 | ||
| 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:0050720 | interleukin-1 beta biosynthetic process | 1919436 |
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| Ligand binding site mutations for CMA1 |
| 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 | R221 | R221W | HNSC | 1 | E85 | T87R | KIRC | 1 | A228 | P226H | LUAD | 1 | K49 | K49E | PRAD | 1 | G201 | G201R | SKCM | 1 | H66 | H66Q | 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 CMA1 |
| 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 | E85 | T87R | -0.80288124 | R221 | R221W | -0.79273347 | A228 | P226H | -0.79271302 | H66 | H66Q | -0.65027118 | K49 | K49E | -0.61996614 | G201 | G201R | -0.041311749 |
| (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 CMA1 from PDB |
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| Differential gene expression and gene-gene network for CMA1 |
| 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 CMA1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0020538 | Hypertension | 4 | Biomarker, GeneticVariation |
| umls:C0149721 | Hypertrophy, Left Ventricular | 2 | Biomarker, GeneticVariation |
| umls:C0034069 | Pulmonary Fibrosis | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CMA1 |
| 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 | DB03149 | Phenylalanylmethane | Small molecule |  |
| Experimental | DB03297 | Benzylsulfinic Acid | Small molecule |  |
| Experimental | DB03814 | 2-(N-Morpholino)-Ethanesulfonic Acid | Small molecule |  |
| Experimental | DB04016 | 2-[3-({Methyl[1-(2-Naphthoyl)Piperidin-4-Yl]Amino}Carbonyl)-2-Naphthyl]-1-(1-Naphthyl)-2-Oxoethylphosphonic Acid | Small molecule |  |
| Experimental | DB07680 | [(1S)-1-(5-CHLORO-1-BENZOTHIEN-3-YL)-2-(2-NAPHTHYLAMINO)-2-OXOETHYL]PHOSPHONIC ACID | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CMA1 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 CMA1 |
| Multiple alignments for P23946 in multiple species |
| LBS | AA sequence | # species | Species | A198 | RKTKSAFKGDS | 2 | Homo sapiens, Canis lupus familiaris | A198 | KKMQNVYKGDS | 2 | Mus musculus, Rattus norvegicus | A228 | DAKPPAVFTRI | 2 | Homo sapiens, Canis lupus familiaris | A228 | NAKPPAVFTRI | 2 | Mus musculus, Rattus norvegicus | C51 | NYLSACSGFLI | 2 | Mus musculus, Rattus norvegicus | C51 | GPSKFCGGFLI | 1 | Homo sapiens | C51 | NHLASCGGFLI | 1 | Canis lupus familiaris | D110 | STLHHDIMLLK | 1 | Homo sapiens | D110 | NLVVHDIMLLK | 1 | Mus musculus | D110 | RLVLHDIMLLK | 1 | Rattus norvegicus | D110 | LTLRHDIMLLK | 1 | Canis lupus familiaris | E85 | NITEEEDTWQK | 1 | Homo sapiens | E85 | NKTSKEDTWQK | 1 | Mus musculus | E85 | NKTYKEDTWQK | 1 | Rattus norvegicus | E85 | NIQKKEDTWQK | 1 | Canis lupus familiaris | E92 | TWQKLEVIKQF | 2 | Homo sapiens, Canis lupus familiaris | E92 | TWQKLEVEKQF | 2 | Mus musculus, Rattus norvegicus | F199 | KTKSAFKGDSG | 2 | Homo sapiens, Canis lupus familiaris | F199 | KMQNVYKGDSG | 2 | Mus musculus, Rattus norvegicus | G201 | KSAFKGDSGGP | 2 | Homo sapiens, Canis lupus familiaris | G201 | QNVYKGDSGGP | 2 | Mus musculus, Rattus norvegicus | G220 | GIVSYGRSDAK | 1 | Homo sapiens | G220 | GIASYVHRNAK | 1 | Mus musculus | G220 | GIASYVHPNAK | 1 | Rattus norvegicus | G220 | GIVSYGQNDAK | 1 | Canis lupus familiaris | H109 | TSTLHHDIMLL | 1 | Homo sapiens | H109 | ENLVVHDIMLL | 1 | Mus musculus | H109 | KRLVLHDIMLL | 1 | Rattus norvegicus | H109 | DLTLRHDIMLL | 1 | Canis lupus familiaris | H31 | TECIPHSRPYM | 2 | Mus musculus, Rattus norvegicus | H31 | TECKPHSRPYM | 1 | Homo sapiens | H31 | TESKPHSRPYM | 1 | Canis lupus familiaris | H66 | VLTAAHCAGRS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H66 | VLTAAHCAGRF | 1 | Canis lupus familiaris | K117 | MLLKLKEKAKL | 2 | Mus musculus, Rattus norvegicus | K117 | MLLKLKEKASL | 1 | Homo sapiens | K117 | MLLKLKEKANL | 1 | Canis lupus familiaris | K200 | TKSAFKGDSGG | 2 | Homo sapiens, Canis lupus familiaris | K200 | MQNVYKGDSGG | 2 | Mus musculus, Rattus norvegicus | K49 | SNGPSKFCGGF | 1 | Homo sapiens | K49 | SENYLSACSGF | 1 | Mus musculus | K49 | SDNYLSACSGF | 1 | Rattus norvegicus | K49 | LRNHLASCGGF | 1 | Canis lupus familiaris | L107 | YNTSTLHHDIM | 1 | Homo sapiens | L107 | YDENLVVHDIM | 1 | Mus musculus | L107 | YDKRLVLHDIM | 1 | Rattus norvegicus | L107 | YDDLTLRHDIM | 1 | Canis lupus familiaris | N103 | RHPKYNTSTLH | 1 | Homo sapiens | N103 | LHPKYDENLVV | 1 | Mus musculus | N103 | IHPNYDKRLVL | 1 | Rattus norvegicus | N103 | PHPKYDDLTLR | 1 | Canis lupus familiaris | R221 | IVSYGRSDAKP | 1 | Homo sapiens | R221 | IASYVHRNAKP | 1 | Mus musculus | R221 | IASYVHPNAKP | 1 | Rattus norvegicus | R221 | IVSYGQNDAKP | 1 | Canis lupus familiaris | S197 | PRKTKSAFKGD | 2 | Homo sapiens, Canis lupus familiaris | S197 | PKKMQNVYKGD | 2 | Mus musculus, Rattus norvegicus | S203 | AFKGDSGGPLL | 2 | Homo sapiens, Canis lupus familiaris | S203 | VYKGDSGGPLL | 2 | Mus musculus, Rattus norvegicus | S218 | AQGIVSYGRSD | 1 | Homo sapiens | S218 | AQGIASYVHRN | 1 | Mus musculus | S218 | AQGIASYVHPN | 1 | Rattus norvegicus | S218 | AQGIVSYGQND | 1 | Canis lupus familiaris | S222 | VSYGRSDAKPP | 1 | Homo sapiens | S222 | ASYVHRNAKPP | 1 | Mus musculus | S222 | ASYVHPNAKPP | 1 | Rattus norvegicus | S222 | VSYGQNDAKPP | 1 | Canis lupus familiaris | T104 | HPKYNTSTLHH | 1 | Homo sapiens | T104 | HPKYDENLVVH | 1 | Mus musculus | T104 | HPNYDKRLVLH | 1 | Rattus norvegicus | T104 | HPKYDDLTLRH | 1 | Canis lupus familiaris | V217 | VAQGIVSYGRS | 1 | Homo sapiens | V217 | IAQGIASYVHR | 1 | Mus musculus | V217 | IAQGIASYVHP | 1 | Rattus norvegicus | V217 | VAQGIVSYGQN | 1 | Canis lupus familiaris | Y102 | FRHPKYNTSTL | 1 | Homo sapiens | Y102 | FLHPKYDENLV | 1 | Mus musculus | Y102 | FIHPNYDKRLV | 1 | Rattus norvegicus | Y102 | FPHPKYDDLTL | 1 | Canis lupus familiaris | Y219 | QGIVSYGRSDA | 1 | Homo sapiens | Y219 | QGIASYVHRNA | 1 | Mus musculus | Y219 | QGIASYVHPNA | 1 | Rattus norvegicus | Y219 | QGIVSYGQNDA | 1 | Canis lupus familiaris |
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