mutLBSgeneDB

mutLBSgeneDB
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 TNNC1
Gene summary
Basic gene Info.Gene symbolTNNC1
Gene nametroponin C type 1 (slow)
SynonymsCMD1Z|CMH13|TN-C|TNC|TNNC
CytomapUCSC genome browser: 3p21.1
Type of geneprotein-coding
RefGenesNM_003280.2,
Descriptioncardiac troponin Cslow twitch skeletal/cardiac muscle troponin Ctroponin C, slow skeletal and cardiac musclestroponin C1, slow
Modification date20141219
dbXrefs MIM : 191040
HGNC : HGNC
Ensembl : ENSG00000114854
HPRD : 08930
Vega : OTTHUMG00000158572
ProteinUniProt: P63316
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TNNC1
BioGPS: 7134
PathwayNCI Pathway Interaction Database: TNNC1
KEGG: TNNC1
REACTOME: TNNC1
Pathway Commons: TNNC1
ContextiHOP: TNNC1
ligand binding site mutation search in PubMed: TNNC1
UCL Cancer Institute: TNNC1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006937regulation of muscle contraction18092822


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Ligand binding site mutations for TNNC1
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
D149D149NCOAD1
R147R147CCOAD1
R147R147CLUSC1
G140G140ESKCM1
F24,I26D25NSKCM1
D109,Y111G110VSTAD1
R147R147HSTAD1
D88D88NUCEC1
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 TNNC1
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
R147R147H-1.4886279
R147R147C-1.2420113
D149D149N-1.154586
Y111G110V-0.96827678
D109G110V-0.96827678
G140G140E-0.94535659
D88D88N-0.93612879
I26D25N-0.76901646
F24D25N-0.76901646
(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 TNNC1 from PDB

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Differential gene expression and gene-gene network for TNNC1
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 TNNC1 and the right PPI network was created from samples without mutations in the LBS of TNNC1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for TNNC1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
53850D149NUncertain significanceGermlineMedGen:CN169374
179075D88NLikely pathogenicGermlineMedGen:CN001491
179079D25NUncertain significanceGermlineMedGen:CN001491

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Pharmacological information for TNNC1
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
ApprovedDB00831TrifluoperazineSmall molecule
Approved|investigationalDB00922LevosimendanSmall molecule
Approved|investigationalDB01023FelodipineSmall molecule
Approved|withdrawnDB01244BepridilSmall molecule
NutraceuticalDB01373CalciumSmall molecule
ApprovedDB01375Aluminium monostearateSmall molecule
ExperimentalDB039445-[1-(3,4-Dimethoxy-Benzoyl)-1,2,3,4-Tetrahydro-Quinolin-6-Yl]-6-Methyl-3,6-Dihydro-[1,3,4]Thiadiazin-2-OneSmall molecule
ExperimentalDB04513N-(6-Aminohexyl)-5-Chloro-1-NaphthalenesulfonamideSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of TNNC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)1ih0AD109 Y111
CACALCIUM(2+)1j1dAD109 Y111
CACALCIUM(2+)1j1dDD109 Y111
CACALCIUM(2+)1j1eAD109 Y111
CACALCIUM(2+)1j1eDD109 Y111
CACALCIUM(2+)1ozsAD109 Y111
CACALCIUM(2+)2kdhAD109 Y111
CACALCIUM(2+)2l98AD109 Y111
CACALCIUM(2+)2mleCD109 Y111
CACALCIUM(2+)2mlfCD109 Y111
IIIPeptide ligand (ARG,ARG,VAL,ARG,ILE,SER,ALA,ASP,ALA,MET,MET,GLN,ALA,LEU,LEU,GLY,ALA,ARG,HIS,LYS,GLU,SER,LEU,ASP,LEU,ARG,ALA)2mzpCD88
WW7N-(6-AMINOHEXYL)-5-CHLORO-1-NAPHTHALENESULFONAMIDE2kfxTF24
DXCDEOXYCHOLIC ACID3rv5AF24
DXCDEOXYCHOLIC ACID3rv5CF24
DXCDEOXYCHOLIC ACID3rv5DF24
EMD5-[1-(3,4-DIMETHOXY-BENZOYL)-1,2,3,4-TETRAHYDRO-QUINOLIN-6-YL]-6-METHYL-3,6-DIHYDRO-[1,3,4]THIADIAZIN-2-ONE1ih0AG140
IIIPeptide ligand (ARG,ILE,SER,ALA,ASP,ALA,MET,MET,GLN,ALA,LEU,LEU,GLY,ALA,ARG,ALA,LYS)1lxfCI26
IIIPeptide ligand (ARG,ILE,SER,ALA,ASP,ALA,MET,MET,GLN,ALA,LEU,LEU,GLY,ALA,ARG,ALA,LYS)1mxlCI26
IIIPeptide ligand (ARG,ARG,VAL,ARG,ILE,SER,ALA,ASP,ALA,MET,MET,GLN,ALA,LEU,LEU,GLY,ALA,ARG,ALA,LYS)2kgbCI26
IIIPeptide ligand (ARG,ARG,VAL,ARG,ILE,SER,ALA,ASP,ALA,MET,MET,GLN,ALA,LEU,LEU,GLY,ALA,ARG,ALA,LYS)2l1rAI26
IIIPeptide ligand (ARG,MET,SER,ALA,ASP,ALA,MET,LEU,LYS,ALA,LEU,LEU,GLY,SER,LYS,HIS,LYS)2mkpCI26
CACALCIUM(2+)1j1dAR147
CACALCIUM(2+)1j1dDR147
CACALCIUM(2+)1ozsAR147
CACALCIUM(2+)2kdhAR147
CACALCIUM(2+)2l98AR147
CACALCIUM(2+)2mleCR147
CACALCIUM(2+)2mlfCR147
CACALCIUM(2+)1ih0AR147 D149
CACALCIUM(2+)1j1eAR147 D149
CACALCIUM(2+)1j1eDR147 D149


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Conservation information for LBS of TNNC1
Multiple alignments for P63316 in multiple species
LBSAA sequence# speciesSpecies
A22KNEFKAAFDIF4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
A23NEFKAAFDIFV4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
C35GAEDGCISTKE4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
C84VMMVRCMKDDS4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D105LFRMFDKNADG4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D109FDKNADGYIDL4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D139EELMKDGDKNN4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D141LMKDGDKNNDG4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D145GDKNNDGRIDY4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D149NDGRIDYDEFL4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D33VLGAEDGCIST4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D65MIDEVDEDGSG4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D67DEVDEDGSGTV4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D73GSGTVDFDEFL4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D75GTVDFDEFLVM4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D87VRCMKDDSKGK4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
D88RCMKDDSKGKS3Homo sapiens, Bos taurus, Mus musculus
D88RCMKDDSKGKT1Gallus gallus
E10YKAAVEQLTEE4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
E116YIDLEELKIML2Bos taurus, Gallus gallus
E116YIDLDELKIML1Homo sapiens
E116YIDLDELKMML1Mus musculus
E15EQLTEEQKNEF4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
E152RIDYDEFLEFM4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
E19EEQKNEFKAAF4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
E40CISTKELGKVM4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
E56NPTPEELQEMI4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
E59PEELQEMIDEV4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
E63QEMIDEVDEDG4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
E66IDEVDEDGSGT4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
E76TVDFDEFLVMM4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
E96GKSEEELSDLF3Homo sapiens, Bos taurus, Mus musculus
E96GKTEEELSDLF1Gallus gallus
F104DLFRMFDKNAD4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
F153IDYDEFLEFMK4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
F156DEFLEFMKGVE4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
F20EQKNEFKAAFD4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
F24EFKAAFDIFVL4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
F27AAFDIFVLGAE4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
F77VDFDEFLVMMV4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
G140ELMKDGDKNND4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
G30DIFVLGAEDGC4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
G70DEDGSGTVDFD4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
I112NADGYIDLDEL2Homo sapiens, Mus musculus
I112NADGYIDLEEL2Bos taurus, Gallus gallus
I128ATGETITEDDI4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
I148NNDGRIDYDEF4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
I26KAAFDIFVLGA4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
I36AEDGCISTKEL4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
I61ELQEMIDEVDE4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
K106FRMFDKNADGY4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
K142MKDGDKNNDGR4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
K17LTEEQKNEFKA4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
K21QKNEFKAAFDI4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
K86MVRCMKDDSKG4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
L100EELSDLFRMFD4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
L117IDLEELKIMLQ2Bos taurus, Gallus gallus
L117IDLDELKIMLQ1Homo sapiens
L117IDLDELKMMLQ1Mus musculus
L12AAVEQLTEEQK4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
L121ELKIMLQATGE3Homo sapiens, Bos taurus, Gallus gallus
L121ELKMMLQATGE1Mus musculus
L136DDIEELMKDGD4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
L41ISTKELGKVMR4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
L48KVMRMLGQNPT4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
M14Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
M120EELKIMLQATG2Bos taurus, Gallus gallus
M120DELKIMLQATG1Homo sapiens
M120DELKMMLQATG1Mus musculus
M157EFLEFMKGVE4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
M45ELGKVMRMLGQ4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
M47GKVMRMLGQNP4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
M60EELQEMIDEVD4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
M80DEFLVMMVRCM4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
M81EFLVMMVRCMK4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
M85MMVRCMKDDSK4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
N107RMFDKNADGYI4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
N143KDGDKNNDGRI4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
N18TEEQKNEFKAA4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
N51RMLGQNPTPEE4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
P52MLGQNPTPEEL4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
Q16QLTEEQKNEFK4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
Q50MRMLGQNPTPE4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
R147KNNDGRIDYDE4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
R46LGKVMRMLGQN4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
R83LVMMVRCMKDD4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
S37EDGCISTKELG4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
S69VDEDGSGTVDF4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
T124IMLQATGETIT3Homo sapiens, Bos taurus, Gallus gallus
T124MMLQATGETIT1Mus musculus
T71EDGSGTVDFDE4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
V44KELGKVMRMLG4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
V64EMIDEVDEDGS4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
V72DGSGTVDFDEF4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
V79FDEFLVMMVRC4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
V82FLVMMVRCMKD4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
V9IYKAAVEQLTE4Homo sapiens, Bos taurus, Mus musculus, Gallus gallus
Y111KNADGYIDLDE2Homo sapiens, Mus musculus
Y111KNADGYIDLEE2Bos taurus, Gallus gallus


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