mutLBSgeneDB |
Gene summary for MCM6 |
Gene summary |
Basic gene Info. | Gene symbol | MCM6 |
Gene name | minichromosome maintenance complex component 6 | |
Synonyms | MCG40308|Mis5|P105MCM | |
Cytomap | UCSC genome browser: 2q21 | |
Type of gene | protein-coding | |
RefGenes | NM_005915.5, | |
Description | DNA replication licensing factor MCM6MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe)minichromosome maintenance deficient (mis5, S. pombe) 6 | |
Modification date | 20141207 | |
dbXrefs | MIM : 601806 | |
HGNC : HGNC | ||
Ensembl : ENSG00000076003 | ||
HPRD : 03485 | ||
Vega : OTTHUMG00000131739 | ||
Protein | UniProt: Q14566 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MCM6 | |
BioGPS: 4175 | ||
Pathway | NCI Pathway Interaction Database: MCM6 | |
KEGG: MCM6 | ||
REACTOME: MCM6 | ||
Pathway Commons: MCM6 | ||
Context | iHOP: MCM6 | |
ligand binding site mutation search in PubMed: MCM6 | ||
UCL Cancer Institute: MCM6 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed 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 |
LBS | AAchange of nsSNV | Cancer type | # samples | S758,I760 | E759Q | COAD | 1 | I767 | N768H | COAD | 1 |
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. |
LBS | AAchange of nsSNV | Relative stability change | I767 | N768H | -1.317092 | I760 | E759Q | -0.63001207 | S758 | E759Q | -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) |
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Phenotype information for MCM6 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C1857231 | LACTASE PERSISTENCE | 2 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of MCM6 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of MCM6 |
Multiple alignments for Q14566 in multiple species |
LBS | AA sequence | # species | Species | D761 | IESEIDSEEEL | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | D761 | VADQIESEDEL | 1 | Drosophila melanogaster | D761 | VEDQLESVEEL | 1 | Anopheles gambiae | E757 | YLKEIESEIDS | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | E757 | YLEQVADQIES | 1 | Drosophila melanogaster | E757 | YLSQVEDQLES | 1 | Anopheles gambiae | E763 | SEIDSEEELIN | 3 | Homo sapiens, Mus musculus, Bos taurus | E763 | SEIDSEEELVT | 1 | Xenopus tropicalis | E763 | DQIESEDELIS | 1 | Drosophila melanogaster | E763 | DQLESVEELME | 1 | Anopheles gambiae | E774 | KKRIIEKVIHR | 1 | Homo sapiens | E774 | RKQIIDKVVHR | 1 | Xenopus tropicalis | E774 | KKTIIEKVVHR | 1 | Mus musculus | E774 | KKRIIEKVIYR | 1 | Bos taurus | E774 | RKNLIEKLIDR | 1 | Drosophila melanogaster | E774 | RKVLIEKVIDR | 1 | Anopheles gambiae | I760 | EIESEIDSEEE | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | I760 | QVADQIESEDE | 1 | Drosophila melanogaster | I760 | QVEDQLESVEE | 1 | Anopheles gambiae | I767 | SEEELINKKRI | 2 | Homo sapiens, Bos taurus | I767 | SEEELVTRKQI | 1 | Xenopus tropicalis | I767 | SEEELINKKTI | 1 | Mus musculus | I767 | SEDELISRKNL | 1 | Drosophila melanogaster | I767 | SVEELMERKVL | 1 | Anopheles gambiae | K754 | VNWYLKEIESE | 3 | Homo sapiens, Mus musculus, Bos taurus | K754 | INWYLKEIESE | 1 | Xenopus tropicalis | K754 | VTWYLEQVADQ | 1 | Drosophila melanogaster | K754 | INWYLSQVEDQ | 1 | Anopheles gambiae | K770 | ELINKKRIIEK | 2 | Homo sapiens, Bos taurus | K770 | ELVTRKQIIDK | 1 | Xenopus tropicalis | K770 | ELINKKTIIEK | 1 | Mus musculus | K770 | ELISRKNLIEK | 1 | Drosophila melanogaster | K770 | ELMERKVLIEK | 1 | Anopheles gambiae | L766 | DSEEELINKKR | 2 | Homo sapiens, Bos taurus | L766 | DSEEELVTRKQ | 1 | Xenopus tropicalis | L766 | DSEEELINKKT | 1 | Mus musculus | L766 | ESEDELISRKN | 1 | Drosophila melanogaster | L766 | ESVEELMERKV | 1 | Anopheles gambiae | N750 | RSELVNWYLKE | 3 | Homo sapiens, Mus musculus, Bos taurus | N750 | KSELINWYLKE | 1 | Xenopus tropicalis | N750 | RSNVVTWYLEQ | 1 | Drosophila melanogaster | N750 | KTELINWYLSQ | 1 | Anopheles gambiae | R771 | LINKKRIIEKV | 2 | Homo sapiens, Bos taurus | R771 | LVTRKQIIDKV | 1 | Xenopus tropicalis | R771 | LINKKTIIEKV | 1 | Mus musculus | R771 | LISRKNLIEKL | 1 | Drosophila melanogaster | R771 | LMERKVLIEKV | 1 | Anopheles gambiae | S746 | SALKRSELVNW | 3 | Homo sapiens, Mus musculus, Bos taurus | S746 | TSQRKSELINW | 1 | Xenopus tropicalis | S746 | TGIKRSNVVTW | 1 | Drosophila melanogaster | S746 | EGISKTELINW | 1 | Anopheles gambiae | S758 | LKEIESEIDSE | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | S758 | LEQVADQIESE | 1 | Drosophila melanogaster | S758 | LSQVEDQLESV | 1 | Anopheles gambiae |
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