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 CMA1
Gene summary
Basic gene Info.Gene symbolCMA1
Gene namechymase 1, mast cell
CytomapUCSC genome browser: 14q11.2
Type of geneprotein-coding
Descriptionalpha-chymasechymasechymase 1 preproprotein transcript Echymase 1 preproprotein transcript Ichymase, heartchymase, mast cellmast cell protease I
Modification date20141207
dbXrefs MIM : 118938
Ensembl : ENSG00000092009
HPRD : 00346
Vega : OTTHUMG00000140181
ProteinUniProt: P23946
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CMA1
BioGPS: 1215
PathwayNCI Pathway Interaction Database: CMA1
Pathway Commons: CMA1
ContextiHOP: CMA1
ligand binding site mutation search in PubMed: CMA1
UCL Cancer Institute: CMA1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0050720interleukin-1 beta biosynthetic process1919436

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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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
(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

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)
* Left PPI network was created from samples with mutations in the LBS of CMA1 and the right PPI network was created from samples without mutations in the LBS of CMA1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CMA1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0020538Hypertension4Biomarker, GeneticVariation
umls:C0149721Hypertrophy, Left Ventricular2Biomarker, GeneticVariation
umls:C0034069Pulmonary Fibrosis2Biomarker

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

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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB03149PhenylalanylmethaneSmall molecule
ExperimentalDB03297Benzylsulfinic AcidSmall molecule
ExperimentalDB038142-(N-Morpholino)-Ethanesulfonic AcidSmall molecule
ExperimentalDB040162-[3-({Methyl[1-(2-Naphthoyl)Piperidin-4-Yl]Amino}Carbonyl)-2-Naphthyl]-1-(1-Naphthyl)-2-Oxoethylphosphonic AcidSmall molecule
ExperimentalDB07680[(1S)-1-(5-CHLORO-1-BENZOTHIEN-3-YL)-2-(2-NAPHTHYLAMINO)-2-OXOETHYL]PHOSPHONIC ACIDSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CMA1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of CMA1
Multiple alignments for P23946 in multiple species
LBSAA sequence# speciesSpecies
A198RKTKSAFKGDS2Homo sapiens, Canis lupus familiaris
A198KKMQNVYKGDS2Mus musculus, Rattus norvegicus
A228DAKPPAVFTRI2Homo sapiens, Canis lupus familiaris
A228NAKPPAVFTRI2Mus musculus, Rattus norvegicus
C51NYLSACSGFLI2Mus musculus, Rattus norvegicus
C51GPSKFCGGFLI1Homo sapiens
C51NHLASCGGFLI1Canis lupus familiaris
D110STLHHDIMLLK1Homo sapiens
D110NLVVHDIMLLK1Mus musculus
D110RLVLHDIMLLK1Rattus norvegicus
D110LTLRHDIMLLK1Canis lupus familiaris
E85NITEEEDTWQK1Homo sapiens
E85NKTSKEDTWQK1Mus musculus
E85NKTYKEDTWQK1Rattus norvegicus
E85NIQKKEDTWQK1Canis lupus familiaris
E92TWQKLEVIKQF2Homo sapiens, Canis lupus familiaris
E92TWQKLEVEKQF2Mus musculus, Rattus norvegicus
F199KTKSAFKGDSG2Homo sapiens, Canis lupus familiaris
F199KMQNVYKGDSG2Mus musculus, Rattus norvegicus
G201KSAFKGDSGGP2Homo sapiens, Canis lupus familiaris
G201QNVYKGDSGGP2Mus musculus, Rattus norvegicus
G220GIVSYGRSDAK1Homo sapiens
G220GIASYVHRNAK1Mus musculus
G220GIASYVHPNAK1Rattus norvegicus
G220GIVSYGQNDAK1Canis lupus familiaris
H109TSTLHHDIMLL1Homo sapiens
H109ENLVVHDIMLL1Mus musculus
H109KRLVLHDIMLL1Rattus norvegicus
H109DLTLRHDIMLL1Canis lupus familiaris
H31TECIPHSRPYM2Mus musculus, Rattus norvegicus
H31TECKPHSRPYM1Homo sapiens
H31TESKPHSRPYM1Canis lupus familiaris
H66VLTAAHCAGRS3Homo sapiens, Mus musculus, Rattus norvegicus
H66VLTAAHCAGRF1Canis lupus familiaris
K117MLLKLKEKAKL2Mus musculus, Rattus norvegicus
K117MLLKLKEKASL1Homo sapiens
K117MLLKLKEKANL1Canis lupus familiaris
K200TKSAFKGDSGG2Homo sapiens, Canis lupus familiaris
K200MQNVYKGDSGG2Mus musculus, Rattus norvegicus
K49SNGPSKFCGGF1Homo sapiens
K49SENYLSACSGF1Mus musculus
K49SDNYLSACSGF1Rattus norvegicus
K49LRNHLASCGGF1Canis lupus familiaris
L107YNTSTLHHDIM1Homo sapiens
L107YDENLVVHDIM1Mus musculus
L107YDKRLVLHDIM1Rattus norvegicus
L107YDDLTLRHDIM1Canis lupus familiaris
N103RHPKYNTSTLH1Homo sapiens
N103LHPKYDENLVV1Mus musculus
N103IHPNYDKRLVL1Rattus norvegicus
N103PHPKYDDLTLR1Canis lupus familiaris
R221IVSYGRSDAKP1Homo sapiens
R221IASYVHRNAKP1Mus musculus
R221IASYVHPNAKP1Rattus norvegicus
R221IVSYGQNDAKP1Canis lupus familiaris
S197PRKTKSAFKGD2Homo sapiens, Canis lupus familiaris
S197PKKMQNVYKGD2Mus musculus, Rattus norvegicus
S203AFKGDSGGPLL2Homo sapiens, Canis lupus familiaris
S203VYKGDSGGPLL2Mus musculus, Rattus norvegicus
S218AQGIVSYGRSD1Homo sapiens
S218AQGIASYVHRN1Mus musculus
S218AQGIASYVHPN1Rattus norvegicus
S218AQGIVSYGQND1Canis lupus familiaris
S222VSYGRSDAKPP1Homo sapiens
S222ASYVHRNAKPP1Mus musculus
S222ASYVHPNAKPP1Rattus norvegicus
S222VSYGQNDAKPP1Canis lupus familiaris
T104HPKYNTSTLHH1Homo sapiens
T104HPKYDENLVVH1Mus musculus
T104HPNYDKRLVLH1Rattus norvegicus
T104HPKYDDLTLRH1Canis lupus familiaris
V217VAQGIVSYGRS1Homo sapiens
V217IAQGIASYVHR1Mus musculus
V217IAQGIASYVHP1Rattus norvegicus
V217VAQGIVSYGQN1Canis lupus familiaris
Y102FRHPKYNTSTL1Homo sapiens
Y102FLHPKYDENLV1Mus musculus
Y102FIHPNYDKRLV1Rattus norvegicus
Y102FPHPKYDDLTL1Canis lupus familiaris
Y219QGIVSYGRSDA1Homo sapiens
Y219QGIASYVHRNA1Mus musculus
Y219QGIASYVHPNA1Rattus norvegicus
Y219QGIVSYGQNDA1Canis lupus familiaris

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