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 MUTYH
Gene summary
Basic gene Info.Gene symbolMUTYH
Gene namemutY homolog
CytomapUCSC genome browser: 1p34.1
Type of geneprotein-coding
DescriptionA/G-specific adenine DNA glycosylase
Modification date20141219
dbXrefs MIM : 604933
Ensembl : ENSG00000132781
HPRD : 05380
Vega : OTTHUMG00000007682
ProteinUniProt: Q9UIF7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MUTYH
BioGPS: 4595
PathwayNCI Pathway Interaction Database: MUTYH
Pathway Commons: MUTYH
ContextiHOP: MUTYH
ligand binding site mutation search in PubMed: MUTYH
UCL Cancer Institute: MUTYH
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for MUTYH
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 MUTYH
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 MUTYH from PDB

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


Phenotype information for MUTYH
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0032580Adenomatous Polyposis Coli78AlteredExpression, Biomarker, GeneticVariation
umls:C0699790Colon Carcinoma9Biomarker, GeneticVariation
umls:C0699791STOMACH CARCINOMA5Biomarker, GeneticVariation
umls:C1837991Colorectal Adenomatous Polyposis, Autosomal Recessive1Biomarker, GeneticVariation
umls:C0038356Stomach Neoplasms1Biomarker, GeneticVariation
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

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

Conservation information for LBS of MUTYH
Multiple alignments for Q9UIF7 in multiple species
LBSAA sequence# speciesSpecies
C287LGATVCTPQRP3Homo sapiens, Mus musculus, Rattus norvegicus
C287LGAITCTPQSP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C287LGATLCTVSKP1Arabidopsis thaliana
C294PQRPLCSQCPV1Homo sapiens
C294PQSPRCSVCPI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C294VSKPSCSSCPV1Arabidopsis thaliana
C294PQRPLCSHCPV1Mus musculus
C294PQRPLCNHCPV1Rattus norvegicus
C297PLCSQCPVESL1Homo sapiens
C297PRCSVCPISEI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C297PSCSSCPVSSQ1Arabidopsis thaliana
C297PLCSHCPVQSL1Mus musculus
C297PLCNHCPVQSL1Rattus norvegicus
C303PVESLCRARQR1Homo sapiens
C303PISEICKAYQE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C303PVSSQCRAFSL1Arabidopsis thaliana
C303PVQSLCRAYQR1Mus musculus
C303PVQSLCRAHQR1Rattus norvegicus
E300SQCPVESLCRA1Homo sapiens
E300SVCPISEICKA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E300SSCPVSSQCRA1Arabidopsis thaliana
E300SHCPVQSLCRA1Mus musculus
E300NHCPVQSLCRA1Rattus norvegicus
P292CTPQRPLCSQC1Homo sapiens
P292CTPQSPRCSVC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P292CTVSKPSCSSC1Arabidopsis thaliana
P292CTPQRPLCSHC1Mus musculus
P292CTPQRPLCNHC1Rattus norvegicus
R242ARVLCRVRAIG1Homo sapiens
R242IRVLSRALAIH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R242IRVLARLKAIS1Arabidopsis thaliana
R242LRVLCRVRAIG1Mus musculus
R242IRVLCRVRAIG1Rattus norvegicus
R306SLCRARQRVEQ1Homo sapiens
R306EICKAYQEQNV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R306SQCRAFSLSEE1Arabidopsis thaliana
R306SLCRAYQRVQR1Mus musculus
R306SLCRAHQRVGQ1Rattus norvegicus
V243RVLCRVRAIGA3Homo sapiens, Mus musculus, Rattus norvegicus
V243RVLSRALAIHS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V243RVLARLKAISA1Arabidopsis thaliana
V286ELGATVCTPQR3Homo sapiens, Mus musculus, Rattus norvegicus
V286ELGAITCTPQS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V286ELGATLCTVSK1Arabidopsis thaliana
V299CSQCPVESLCR1Homo sapiens
V299CSVCPISEICK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V299CSSCPVSSQCR1Arabidopsis thaliana
V299CSHCPVQSLCR1Mus musculus
V299CNHCPVQSLCR1Rattus norvegicus

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