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 CMTR1
Gene summary
Basic gene Info.Gene symbolCMTR1
Gene namecap methyltransferase 1
SynonymsFTSJD2|KIAA0082|MTr1|hMTr1
CytomapUCSC genome browser: 6p21.2
Type of geneprotein-coding
RefGenesNM_015050.2,
DescriptionFtsJ methyltransferase domain containing 2ISG95S-adenosyl-L-methionine-dependent methyltransferase FTSJD2cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1cap1 2'O-ribose methyltransferase 1ftsJ methyltransferase domain-containing protein 2int
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000137200
HPRD : 08305
Vega : OTTHUMG00000014624
ProteinUniProt: Q8N1G2
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CMTR1
BioGPS: 23070
PathwayNCI Pathway Interaction Database: CMTR1
KEGG: CMTR1
REACTOME: CMTR1
Pathway Commons: CMTR1
ContextiHOP: CMTR1
ligand binding site mutation search in PubMed: CMTR1
UCL Cancer Institute: CMTR1
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:00063707-methylguanosine mRNA capping21310715
GO:0080009mRNA methylation20713356
GO:0097309cap1 mRNA methylation21310715


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Ligand binding site mutations for CMTR1
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
G366G366CBRCA1
S368S368LCOAD1
R215R216QCOAD1
S368E370GCOAD1
S368E370DCOAD1
S368E370DOV1
T337R338HUCEC1
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 CMTR1
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
S368S368L0.19642891
T337R338H-1.107672
R215R216Q-0.90569593
S368E370G-0.81417942
G366G366C-0.74721392
S368E370D-0.71891023
(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 CMTR1 from PDB

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Differential gene expression and gene-gene network for CMTR1
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 CMTR1 and the right PPI network was created from samples without mutations in the LBS of CMTR1. 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 CMTR1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for CMTR1
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CMTR1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
SAMS-ADENOSYL-L-METHIONINE4n49AG366
NUCNucleic Acids4n48BR215 S368
NUCNucleic Acids4n48AS368
SAMS-ADENOSYL-L-METHIONINE4n48AT337 G366
SAMS-ADENOSYL-L-METHIONINE4n48BT337 G366


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Conservation information for LBS of CMTR1
Multiple alignments for Q8N1G2 in multiple species
LBSAA sequence# speciesSpecies
A236FFLNRAAMKMA5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
A236FFQNRAAMKTA1Caenorhabditis elegans
A236IFLNRAAVKMA1Drosophila melanogaster
A278FADVCAGPGGF5Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus
A278FTDMCAGPGGF1Drosophila melanogaster
A278FGDVCAGPGGF1Danio rerio
A438ITSRPANSERY3Homo sapiens, Mus musculus, Bos taurus
A438VTSRPANSERY2Danio rerio, Rattus norvegicus
A438HTSRPANSERY1Caenorhabditis elegans
A438NSSRPANSERY1Drosophila melanogaster
C277YFADVCAGPGG5Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus
C277YFTDMCAGPGG1Drosophila melanogaster
C277YFGDVCAGPGG1Danio rerio
D207CKSVFDVLDGE2Homo sapiens, Bos taurus
D207CKSVFDILDGE2Mus musculus, Rattus norvegicus
D207AKNVFDLMSDK1Caenorhabditis elegans
D207AKTVFDDLNDN1Drosophila melanogaster
D207CKTVFDDLEGE1Danio rerio
D335IDGDGDITRPE3Homo sapiens, Danio rerio, Bos taurus
D335VDGDGDITRPE2Mus musculus, Rattus norvegicus
D335TKDNGDVMDPV1Caenorhabditis elegans
D335VKEDGNIFDES1Drosophila melanogaster
D364HFLMADGGFSV3Homo sapiens, Danio rerio, Bos taurus
D364HFVMADGGFSV2Mus musculus, Rattus norvegicus
D364HLMMADGGFSV1Caenorhabditis elegans
D364HFAMADGGFSV1Drosophila melanogaster
E373SVEGQENLQEI5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
E373SVEGQENIQEI1Caenorhabditis elegans
E373SVEGQKNIQEI1Drosophila melanogaster
E441RPANSERYVVC5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
E441RPANSERYITC1Caenorhabditis elegans
E441RPANSERYLVC1Drosophila melanogaster
F206KCKSVFDILDG2Mus musculus, Rattus norvegicus
F206QCKSVFDVLDG1Homo sapiens
F206EAKNVFDLMSD1Caenorhabditis elegans
F206NAKTVFDDLND1Drosophila melanogaster
F206RCKTVFDDLEG1Danio rerio
F206KCKSVFDVLDG1Bos taurus
F283AGPGGFSEYVL6Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
F283AGPGGFSEYML1Caenorhabditis elegans
F367MADGGFSVEGQ7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
G279ADVCAGPGGFS5Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus
G279TDMCAGPGGFS1Drosophila melanogaster
G279GDVCAGPGGFS1Danio rerio
G281VCAGPGGFSEY6Homo sapiens, Caenorhabditis elegans, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
G281MCAGPGGFSEY1Drosophila melanogaster
G282CAGPGGFSEYV6Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
G282CAGPGGFSEYM1Caenorhabditis elegans
G334GIDGDGDITRP3Homo sapiens, Danio rerio, Bos taurus
G334GVDGDGDITRP2Mus musculus, Rattus norvegicus
G334GTKDNGDVMDP1Caenorhabditis elegans
G334GVKEDGNIFDE1Drosophila melanogaster
G365FLMADGGFSVE3Homo sapiens, Danio rerio, Bos taurus
G365FVMADGGFSVE2Mus musculus, Rattus norvegicus
G365LMMADGGFSVE1Caenorhabditis elegans
G365FAMADGGFSVE1Drosophila melanogaster
G366LMADGGFSVEG3Homo sapiens, Danio rerio, Bos taurus
G366VMADGGFSVEG2Mus musculus, Rattus norvegicus
G366MMADGGFSVEG1Caenorhabditis elegans
G366AMADGGFSVEG1Drosophila melanogaster
I336DGDGDITRPEN5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
I336KDNGDVMDPVN1Caenorhabditis elegans
I336KEDGNIFDESN1Drosophila melanogaster
K203SMLKCKSVFDI2Mus musculus, Rattus norvegicus
K203SVLQCKSVFDV1Homo sapiens
K203EMIEAKNVFDL1Caenorhabditis elegans
K203HILNAKTVFDD1Drosophila melanogaster
K203LLLRCKTVFDD1Danio rerio
K203SVLKCKSVFDV1Bos taurus
K239NRAAMKMANMD5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
K239NRAAMKTANMD1Caenorhabditis elegans
K239NRAAVKMANID1Drosophila melanogaster
K404GHFICKTFDLF2Homo sapiens, Bos taurus
K404GHFVCKTFDLF2Mus musculus, Rattus norvegicus
K404GNFFCKLFDIF1Caenorhabditis elegans
K404GSFVCKVFDLF1Drosophila melanogaster
K404GHFLCKTFDLF1Danio rerio
L302GFGMTLKGPND3Homo sapiens, Mus musculus, Rattus norvegicus
L302GFGFTLAGKDD1Caenorhabditis elegans
L302GFGFTLRGAND1Drosophila melanogaster
L302GFGMTLKGAND1Danio rerio
L302GFGLTLKGPHD1Bos taurus
L383ILSKQLLLCQF5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
L383ILSKRLYLCQL1Caenorhabditis elegans
L383ILSKQLYLCQF1Drosophila melanogaster
M214LDGEEMRRART4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
M214MSDKDLREART1Caenorhabditis elegans
M214LNDNEKRRARS1Drosophila melanogaster
M214LEGEEMRRART1Danio rerio
N234GVFFLNRAAMK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N234SAFFQNRAAMK1Caenorhabditis elegans
N234SSIFLNRAAVK1Drosophila melanogaster
N234GAFFLNRAAMK1Danio rerio
N306TLKGPNDFKLE3Homo sapiens, Mus musculus, Rattus norvegicus
N306TLAGKDDFKLF1Caenorhabditis elegans
N306TLRGANDFKLE1Drosophila melanogaster
N306TLKGANDFKLE1Danio rerio
N306TLKGPHDFKLE1Bos taurus
N374VEGQENLQEIL5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
N374VEGQENIQEIL1Caenorhabditis elegans
N374VEGQKNIQEIL1Drosophila melanogaster
N439TSRPANSERYV5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
N439TSRPANSERYI1Caenorhabditis elegans
N439SSRPANSERYL1Drosophila melanogaster
P280DVCAGPGGFSE6Homo sapiens, Caenorhabditis elegans, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
P280DMCAGPGGFSE1Drosophila melanogaster
Q376GQENLQEILSK5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
Q376GQENIQEILSK1Caenorhabditis elegans
Q376GQKNIQEILSK1Drosophila melanogaster
R215DGEEMRRARTR4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R215SDKDLREARTR1Caenorhabditis elegans
R215NDNEKRRARSR1Drosophila melanogaster
R215EGEEMRRARTR1Danio rerio
R218EMRRARTRANP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R218DLREARTRANP1Caenorhabditis elegans
R218EKRRARSRCNP1Drosophila melanogaster
R218EMRRARTRSNP1Danio rerio
R235VFFLNRAAMKM4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R235AFFQNRAAMKT1Caenorhabditis elegans
R235SIFLNRAAVKM1Drosophila melanogaster
R235AFFLNRAAMKM1Danio rerio
S204MLKCKSVFDIL2Mus musculus, Rattus norvegicus
S204VLQCKSVFDVL1Homo sapiens
S204MIEAKNVFDLM1Caenorhabditis elegans
S204ILNAKTVFDDL1Drosophila melanogaster
S204LLRCKTVFDDL1Danio rerio
S204VLKCKSVFDVL1Bos taurus
S368ADGGFSVEGQE6Homo sapiens, Caenorhabditis elegans, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
S368ADGGFSVEGQK1Drosophila melanogaster
T301KGFGMTLKGPN3Homo sapiens, Mus musculus, Rattus norvegicus
T301KGFGFTLAGKD1Caenorhabditis elegans
T301KGFGFTLRGAN1Drosophila melanogaster
T301KGFGMTLKGAN1Danio rerio
T301KGFGLTLKGPH1Bos taurus
T337GDGDITRPENI5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
T337DNGDVMDPVNI1Caenorhabditis elegans
T337EDGNIFDESNQ1Drosophila melanogaster


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