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mutLBSgeneDB |
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| Gene summary for MUTYH |
 Gene summary |
| Basic gene Info. | Gene symbol | MUTYH |
| Gene name | mutY homolog | |
| Synonyms | MYH | |
| Cytomap | UCSC genome browser: 1p34.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001048171.1, NM_001048172.1,NM_001048173.1,NM_001048174.1,NM_001128425.1, NM_001293190.1,NM_001293191.1,NM_001293192.1,NM_001293195.1, NM_001293196.1,NM_012222.2, | |
| Description | A/G-specific adenine DNA glycosylase | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 604933 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000132781 | ||
| HPRD : 05380 | ||
| Vega : OTTHUMG00000007682 | ||
| Protein | UniProt: Q9UIF7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MUTYH | |
| BioGPS: 4595 | ||
| Pathway | NCI Pathway Interaction Database: MUTYH | |
| KEGG: MUTYH | ||
| REACTOME: MUTYH | ||
| Pathway Commons: MUTYH | ||
| Context | iHOP: MUTYH | |
| ligand binding site mutation search in PubMed: MUTYH | ||
| UCL Cancer Institute: MUTYH | ||
| 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 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R306 | Q307H | BRCA | 1 | C303 | R304L | LUAD | 1 | V286 | A284D | LUAD | 1 | R242 | R242H | LUSC | 1 | E300 | E300G | STAD | 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 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 |
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| 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 | R242 | R242H | -1.1126697 | V286 | A284D | -0.94662441 | E300 | E300G | -0.89437956 | R306 | Q307H | -0.35849849 | C303 | R304L | -0.080098888 |
| (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 |
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| 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) |
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| Phenotype information for MUTYH |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0032580 | Adenomatous Polyposis Coli | 78 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0699790 | Colon Carcinoma | 9 | Biomarker, GeneticVariation |
| umls:C0699791 | STOMACH CARCINOMA | 5 | Biomarker, GeneticVariation |
| umls:C1837991 | Colorectal Adenomatous Polyposis, Autosomal Recessive | 1 | Biomarker, GeneticVariation |
| umls:C0038356 | Stomach Neoplasms | 1 | Biomarker, GeneticVariation |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MUTYH 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 MUTYH |
| Multiple alignments for Q9UIF7 in multiple species |
| LBS | AA sequence | # species | Species | C287 | LGATVCTPQRP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C287 | LGAITCTPQSP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C287 | LGATLCTVSKP | 1 | Arabidopsis thaliana | C294 | PQRPLCSQCPV | 1 | Homo sapiens | C294 | PQSPRCSVCPI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C294 | VSKPSCSSCPV | 1 | Arabidopsis thaliana | C294 | PQRPLCSHCPV | 1 | Mus musculus | C294 | PQRPLCNHCPV | 1 | Rattus norvegicus | C297 | PLCSQCPVESL | 1 | Homo sapiens | C297 | PRCSVCPISEI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C297 | PSCSSCPVSSQ | 1 | Arabidopsis thaliana | C297 | PLCSHCPVQSL | 1 | Mus musculus | C297 | PLCNHCPVQSL | 1 | Rattus norvegicus | C303 | PVESLCRARQR | 1 | Homo sapiens | C303 | PISEICKAYQE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C303 | PVSSQCRAFSL | 1 | Arabidopsis thaliana | C303 | PVQSLCRAYQR | 1 | Mus musculus | C303 | PVQSLCRAHQR | 1 | Rattus norvegicus | E300 | SQCPVESLCRA | 1 | Homo sapiens | E300 | SVCPISEICKA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E300 | SSCPVSSQCRA | 1 | Arabidopsis thaliana | E300 | SHCPVQSLCRA | 1 | Mus musculus | E300 | NHCPVQSLCRA | 1 | Rattus norvegicus | P292 | CTPQRPLCSQC | 1 | Homo sapiens | P292 | CTPQSPRCSVC | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | P292 | CTVSKPSCSSC | 1 | Arabidopsis thaliana | P292 | CTPQRPLCSHC | 1 | Mus musculus | P292 | CTPQRPLCNHC | 1 | Rattus norvegicus | R242 | ARVLCRVRAIG | 1 | Homo sapiens | R242 | IRVLSRALAIH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R242 | IRVLARLKAIS | 1 | Arabidopsis thaliana | R242 | LRVLCRVRAIG | 1 | Mus musculus | R242 | IRVLCRVRAIG | 1 | Rattus norvegicus | R306 | SLCRARQRVEQ | 1 | Homo sapiens | R306 | EICKAYQEQNV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R306 | SQCRAFSLSEE | 1 | Arabidopsis thaliana | R306 | SLCRAYQRVQR | 1 | Mus musculus | R306 | SLCRAHQRVGQ | 1 | Rattus norvegicus | V243 | RVLCRVRAIGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V243 | RVLSRALAIHS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V243 | RVLARLKAISA | 1 | Arabidopsis thaliana | V286 | ELGATVCTPQR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V286 | ELGAITCTPQS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V286 | ELGATLCTVSK | 1 | Arabidopsis thaliana | V299 | CSQCPVESLCR | 1 | Homo sapiens | V299 | CSVCPISEICK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V299 | CSSCPVSSQCR | 1 | Arabidopsis thaliana | V299 | CSHCPVQSLCR | 1 | Mus musculus | V299 | CNHCPVQSLCR | 1 | Rattus norvegicus |
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