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 MCM6
Gene summary
Basic gene Info.Gene symbolMCM6
Gene nameminichromosome maintenance complex component 6
SynonymsMCG40308|Mis5|P105MCM
CytomapUCSC genome browser: 2q21
Type of geneprotein-coding
RefGenesNM_005915.5,
DescriptionDNA replication licensing factor MCM6MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe)minichromosome maintenance deficient (mis5, S. pombe) 6
Modification date20141207
dbXrefs MIM : 601806
HGNC : HGNC
Ensembl : ENSG00000076003
HPRD : 03485
Vega : OTTHUMG00000131739
ProteinUniProt: Q14566
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MCM6
BioGPS: 4175
PathwayNCI Pathway Interaction Database: MCM6
KEGG: MCM6
REACTOME: MCM6
Pathway Commons: MCM6
ContextiHOP: MCM6
ligand binding site mutation search in PubMed: MCM6
UCL Cancer Institute: MCM6
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


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Ligand binding site mutations for MCM6
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
S758,I760E759QCOAD1
I767N768HCOAD1
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 MCM6
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
I767N768H-1.317092
I760E759Q-0.63001207
S758E759Q-0.63001207
(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 MCM6 from PDB

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Differential gene expression and gene-gene network for MCM6
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 MCM6 and the right PPI network was created from samples without mutations in the LBS of MCM6. 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 MCM6
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1857231LACTASE PERSISTENCE2Biomarker, GeneticVariation

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

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Pharmacological information for MCM6
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 MCM6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of MCM6
Multiple alignments for Q14566 in multiple species
LBSAA sequence# speciesSpecies
D761IESEIDSEEEL4Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus
D761VADQIESEDEL1Drosophila melanogaster
D761VEDQLESVEEL1Anopheles gambiae
E757YLKEIESEIDS4Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus
E757YLEQVADQIES1Drosophila melanogaster
E757YLSQVEDQLES1Anopheles gambiae
E763SEIDSEEELIN3Homo sapiens, Mus musculus, Bos taurus
E763SEIDSEEELVT1Xenopus tropicalis
E763DQIESEDELIS1Drosophila melanogaster
E763DQLESVEELME1Anopheles gambiae
E774KKRIIEKVIHR1Homo sapiens
E774RKQIIDKVVHR1Xenopus tropicalis
E774KKTIIEKVVHR1Mus musculus
E774KKRIIEKVIYR1Bos taurus
E774RKNLIEKLIDR1Drosophila melanogaster
E774RKVLIEKVIDR1Anopheles gambiae
I760EIESEIDSEEE4Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus
I760QVADQIESEDE1Drosophila melanogaster
I760QVEDQLESVEE1Anopheles gambiae
I767SEEELINKKRI2Homo sapiens, Bos taurus
I767SEEELVTRKQI1Xenopus tropicalis
I767SEEELINKKTI1Mus musculus
I767SEDELISRKNL1Drosophila melanogaster
I767SVEELMERKVL1Anopheles gambiae
K754VNWYLKEIESE3Homo sapiens, Mus musculus, Bos taurus
K754INWYLKEIESE1Xenopus tropicalis
K754VTWYLEQVADQ1Drosophila melanogaster
K754INWYLSQVEDQ1Anopheles gambiae
K770ELINKKRIIEK2Homo sapiens, Bos taurus
K770ELVTRKQIIDK1Xenopus tropicalis
K770ELINKKTIIEK1Mus musculus
K770ELISRKNLIEK1Drosophila melanogaster
K770ELMERKVLIEK1Anopheles gambiae
L766DSEEELINKKR2Homo sapiens, Bos taurus
L766DSEEELVTRKQ1Xenopus tropicalis
L766DSEEELINKKT1Mus musculus
L766ESEDELISRKN1Drosophila melanogaster
L766ESVEELMERKV1Anopheles gambiae
N750RSELVNWYLKE3Homo sapiens, Mus musculus, Bos taurus
N750KSELINWYLKE1Xenopus tropicalis
N750RSNVVTWYLEQ1Drosophila melanogaster
N750KTELINWYLSQ1Anopheles gambiae
R771LINKKRIIEKV2Homo sapiens, Bos taurus
R771LVTRKQIIDKV1Xenopus tropicalis
R771LINKKTIIEKV1Mus musculus
R771LISRKNLIEKL1Drosophila melanogaster
R771LMERKVLIEKV1Anopheles gambiae
S746SALKRSELVNW3Homo sapiens, Mus musculus, Bos taurus
S746TSQRKSELINW1Xenopus tropicalis
S746TGIKRSNVVTW1Drosophila melanogaster
S746EGISKTELINW1Anopheles gambiae
S758LKEIESEIDSE4Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus
S758LEQVADQIESE1Drosophila melanogaster
S758LSQVEDQLESV1Anopheles gambiae


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