mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 QPCT
Gene summary
Basic gene Info.Gene symbolQPCT
Gene nameglutaminyl-peptide cyclotransferase
SynonymsGCT|QC|sQC
CytomapUCSC genome browser: 2p22.2
Type of geneprotein-coding
RefGenesNM_012413.3,
DescriptionECglutaminyl cyclaseglutaminyl-tRNA cyclotransferaseglutamyl cyclase
Modification date20141207
dbXrefs MIM : 607065
HGNC : HGNC
Ensembl : ENSG00000115828
HPRD : 06140
Vega : OTTHUMG00000100963
ProteinUniProt: Q16769
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_QPCT
BioGPS: 25797
PathwayNCI Pathway Interaction Database: QPCT
KEGG: QPCT
REACTOME: QPCT
Pathway Commons: QPCT
ContextiHOP: QPCT
ligand binding site mutation search in PubMed: QPCT
UCL Cancer Institute: QPCT
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0017186peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase21288892


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Ligand binding site mutations for QPCT
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
I321,S323P322SCOAD1
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 QPCT
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
S323P322S-1.2362622
I321P322S-1.2362622
(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 QPCT from PDB

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Differential gene expression and gene-gene network for QPCT
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 QPCT and the right PPI network was created from samples without mutations in the LBS of QPCT. 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 QPCT
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0025202Melanoma2Biomarker
umls:C0162820Dermatitis, Allergic Contact1Biomarker
umls:C0023434Leukemia, Lymphocytic, Chronic, B-Cell1Biomarker

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

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Pharmacological information for QPCT
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
ExperimentalDB045811-benzylimidazoleSmall molecule
ExperimentalDB04622N-ACETYLHISTAMINESmall molecule
ExperimentalDB04636Glutamine t-butyl esterSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of QPCT go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
BGTL-GLUTAMINE T-BUTYL ESTER HYDROCHLORIDE2afuAI321
NVI1-VINYLIMIDAZOLE2afzAI321
NVI1-VINYLIMIDAZOLE2afzBI321
PBD1-(3,4-DIMETHOXYPHENYL)-3-[3-(1H-IMIDAZOL-1-YL)PROPYL]THIOUREA3pbbAS323
PBD1-(3,4-DIMETHOXYPHENYL)-3-[3-(1H-IMIDAZOL-1-YL)PROPYL]THIOUREA3pbbBS323


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Conservation information for LBS of QPCT
Multiple alignments for Q16769 in multiple species
LBSAA sequence# speciesSpecies
D159FVGATDSAVPC3Homo sapiens, Mus musculus, Bos taurus
D248LLVLLDLIGAP2Homo sapiens, Bos taurus
D248LLVLLDLIGAA1Mus musculus
D305GGVIQDDHIPF2Homo sapiens, Bos taurus
D305GNIIQDDHIPF1Mus musculus
E201IFFDGEEAFLH1Homo sapiens
E201IFFDGEEAFHH1Mus musculus
E201IFFDGEEAFHL1Bos taurus
E202FFDGEEAFLHW1Homo sapiens
E202FFDGEEAFHHW1Mus musculus
E202FFDGEEAFHLW1Bos taurus
F325LIPSPFPEVWH1Homo sapiens
F325LIASPFPEVWH1Mus musculus
F325LISSPFPEVWH1Bos taurus
H330FPEVWHTMDDN3Homo sapiens, Mus musculus, Bos taurus
I303SYGGVIQDDHI1Homo sapiens
I303GYGNIIQDDHI1Mus musculus
I303GYGGVIQDDHI1Bos taurus
I321PVLHLIPSPFP1Homo sapiens
I321PVLHLIASPFP1Mus musculus
I321PVLHLISSPFP1Bos taurus
L213SPQDSLYGSRH3Homo sapiens, Mus musculus, Bos taurus
L249LVLLDLIGAPN1Homo sapiens
L249LVLLDLIGAAN1Mus musculus
L249LVLLDLIGAPF1Bos taurus
Q304YGGVIQDDHIP2Homo sapiens, Bos taurus
Q304YGNIIQDDHIP1Mus musculus
S323LHLIPSPFPEV1Homo sapiens
S323LHLIASPFPEV1Mus musculus
S323LHLISSPFPEV1Bos taurus
V302YSYGGVIQDDH1Homo sapiens
V302FGYGNIIQDDH1Mus musculus
V302YGYGGVIQDDH1Bos taurus
W207EAFLHWSPQDS1Homo sapiens
W207EAFHHWSPQDS1Mus musculus
W207EAFHLWSPQDS1Bos taurus
W329PFPEVWHTMDD3Homo sapiens, Mus musculus, Bos taurus
Y299FQNYSYGGVIQ1Homo sapiens
Y299FQNFGYGNIIQ1Mus musculus
Y299FRNYGYGGVIQ1Bos taurus


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