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 MEPCE
Gene summary
Basic gene Info.Gene symbolMEPCE
Gene namemethylphosphate capping enzyme
CytomapUCSC genome browser: 7q22.1
Type of geneprotein-coding
Description7SK snRNA methylphosphate capping enzymebicoid-interacting protein 3 homologbin3 homologbin3, bicoid-interacting 3, homolog
Modification date20141207
dbXrefs MIM : 611478
Ensembl : ENSG00000146834
HPRD : 07889
Vega : OTTHUMG00000155255
ProteinUniProt: Q7L2J0
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MEPCE
BioGPS: 56257
PathwayNCI Pathway Interaction Database: MEPCE
Pathway Commons: MEPCE
ContextiHOP: MEPCE
ligand binding site mutation search in PubMed: MEPCE
UCL Cancer Institute: MEPCE
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0001510RNA methylation17643375
GO:0016073snRNA metabolic process17643375
GO:0040031snRNA modification17643375

Ligand binding site mutations for MEPCE
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 MEPCE
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 MEPCE from PDB

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


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

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

Pharmacological information for MEPCE
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 MEPCE go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of MEPCE
Multiple alignments for Q7L2J0 in multiple species
LBSAA sequence# speciesSpecies
D474RMVGLDIDSRL1Homo sapiens
D474SILGVDIDTSR1Arabidopsis thaliana
D474RMVGLDIDPRL1Mus musculus
G451DVLDLGCNVGH2Homo sapiens, Mus musculus
G451DCLDIGCNSGI1Arabidopsis thaliana
G558VVFVTGNYVLD2Homo sapiens, Mus musculus
G558VSFQKENFVQT1Arabidopsis thaliana
I475MVGLDIDSRLI1Homo sapiens
I475ILGVDIDTSRI1Arabidopsis thaliana
I475MVGLDIDPRLI1Mus musculus
L479DIDSRLIHSAR1Homo sapiens
L479DIDTSRIEDAH1Arabidopsis thaliana
L479DIDPRLIHSAR1Mus musculus
L581DVVLCLSLTKW1Homo sapiens
L581DTILCLSVTKW1Arabidopsis thaliana
L581DVVLCFSLTKW1Mus musculus
L583VLCLSLTKWVH1Homo sapiens
L583ILCLSVTKWVH1Arabidopsis thaliana
L583VLCFSLTKWVH1Mus musculus
N453LDLGCNVGHLT2Homo sapiens, Mus musculus
N453LDIGCNSGIMT1Arabidopsis thaliana
N559VFVTGNYVLDR2Homo sapiens, Mus musculus
N559SFQKENFVQTR1Arabidopsis thaliana
S582VVLCLSLTKWV1Homo sapiens
S582TILCLSVTKWV1Arabidopsis thaliana
S582VVLCFSLTKWV1Mus musculus
V561VTGNYVLDRDD1Homo sapiens
V561QKENFVQTRN-1Arabidopsis thaliana
V561VTGNYVLDRDE1Mus musculus
W586LSLTKWVHLNW1Homo sapiens
W586LSVTKWVHLNW1Arabidopsis thaliana
W586FSLTKWVHLNW1Mus musculus
W591WVHLNWGDEGL2Homo sapiens, Mus musculus
W591WVHLNWGDDGL1Arabidopsis thaliana
Y560FVTGNYVLDRD2Homo sapiens, Mus musculus
Y560FQKENFVQTRN1Arabidopsis thaliana

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