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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for MUTYH

check button Gene summary
Gene informationGene symbol

MUTYH

Gene ID

4595

Gene namemutY DNA glycosylase
SynonymsMYH
Cytomap

1p34.1

Type of geneprotein-coding
Descriptionadenine DNA glycosylaseA/G-specific adenine DNA glycosylasemutY homologmutY-like protein
Modification date20200315
UniProtAcc

A0A0S2Z4D0,

A0A2S1WCK4,

A0A5F9ZHI2,

A0A5F9ZI14,

A0A5F9ZI60,

D3DPZ6,

E5KP25,

E5KP26,

E5KP27,

E5KP28,

E9PI11,

E9PIW5,

E9PKM9,

E9PLT4,

E9PM53,

E9PMH1,

E9PNY0,

E9PP30,

E9PP34,

H0YCA8,

H0YCY5,

H0YEI2,

H0YER6,

Q5T413,

Q5T418,

Q9UIF7,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Gene structures and expression levels for MUTYH

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

ENSG00000132781
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBDOWNENST00000485271.5MUTYH-229:nonsense_mediated_decay:MUTYH7.349476e+01-8.797669e-011.169533e-051.201885e-04
CBDOWNENST00000488731.6MUTYH-231:protein_coding:MUTYH2.749190e+01-1.547578e+003.727713e-042.249617e-03
CBDOWNENST00000475516.5MUTYH-220:nonsense_mediated_decay:MUTYH2.170027e+01-1.734570e+005.780470e-043.257773e-03
CBDOWNENST00000533178.5MUTYH-238:nonsense_mediated_decay:MUTYH2.720950e+01-1.698667e+004.889443e-031.932009e-02
TCDOWNENST00000485271.5MUTYH-229:nonsense_mediated_decay:MUTYH2.342940e+01-8.891438e-011.072397e-052.732259e-04
TCDOWNENST00000533178.5MUTYH-238:nonsense_mediated_decay:MUTYH5.134678e+00-3.513476e+006.500354e-047.071275e-03

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MUTYH

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_116546chr145331420:45331556:45331661:45331872:45332023:4533208645331661:45331872
exon_skip_130277chr145332918:45332959:45333097:45333170:45333285:4533332445333097:45333170
exon_skip_145595chr145333285:45333324:45333413:45333497:45334391:4533451145333413:45333497
exon_skip_195261chr145333285:45333324:45333413:45333594:45334391:4533451145333413:45333594
exon_skip_237942chr145329242:45329437:45329889:45330068:45330516:4533055745329889:45330068
exon_skip_251700chr145333285:45333324:45333413:45333561:45334391:4533451145333413:45333561
exon_skip_251773chr145331420:45331556:45331661:45331849:45332023:4533208645331661:45331849
exon_skip_257544chr145333285:45333324:45333413:45333564:45334391:4533451145333413:45333564
exon_skip_75491chr145333285:45333324:45333413:45333603:45334391:4533451145333413:45333603
exon_skip_82899chr145332763:45332834:45332918:45332959:45333285:4533332445332918:45332959

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for MUTYH

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003720984533309745333170Frame-shift
ENST000003720984533341345333594Frame-shift
ENST000003720984533166145331849In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003720984533309745333170Frame-shift
ENST000003720984533166145331849In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003720984533309745333170Frame-shift
ENST000003720984533341345333594Frame-shift
ENST000003720984533166145331849In-frame

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Infer the effects of exon skipping event on protein functional features for MUTYH

p-ENSG00000132781_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003720981856546453316614533184911231310329392

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003720981856546453316614533184911231310329392

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003720981856546453316614533184911231310329392

check button Lost protein functional features of individual exon skipping events in ROSMAP.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q9UIF7329392358360Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X51
Q9UIF7329392366377Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X51
Q9UIF7329392379388Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X51
Q9UIF73293921546ChainID=PRO_0000102239;Note=Adenine DNA glycosylase
Q9UIF7329392364495DomainNote=Nudix hydrolase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00794
Q9UIF7329392330332HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N5N
Q9UIF7329392335335Natural variantID=VAR_018874;Note=Polymorphism%3B does not affect function in DNA repair. Q->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12606733,ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16287
Q9UIF7329392335335Natural variantID=VAR_077666;Note=Found in a family with non-polyposis colorectal cancer-like syndrome%3B unknown pathological significance%3B does not affect function in DNA repair. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs1997
Q9UIF7329392370370Natural variantID=VAR_048262;Note=Polymorphism%3B does not affect DNA glycosylase activity. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20848659;Dbxref=dbSNP:rs35352891,PMID:20848659
Q9UIF7329392377377Natural variantID=VAR_077667;Note=In FAP2%3B decreased function in DNA repair. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=PMID:25820570
Q9UIF7329392385385Natural variantID=VAR_077668;Note=In FAP2%3B also found in multiple polyposis cases%3B loss of DNA glycosylase activity%3B loss of function in DNA repair. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16134147,ECO:0000269

check button Lost protein functional features of individual exon skipping events in MSBB.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q9UIF7329392358360Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X51
Q9UIF7329392366377Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X51
Q9UIF7329392379388Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X51
Q9UIF73293921546ChainID=PRO_0000102239;Note=Adenine DNA glycosylase
Q9UIF7329392364495DomainNote=Nudix hydrolase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00794
Q9UIF7329392330332HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N5N
Q9UIF7329392335335Natural variantID=VAR_018874;Note=Polymorphism%3B does not affect function in DNA repair. Q->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12606733,ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16287
Q9UIF7329392335335Natural variantID=VAR_077666;Note=Found in a family with non-polyposis colorectal cancer-like syndrome%3B unknown pathological significance%3B does not affect function in DNA repair. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs1997
Q9UIF7329392370370Natural variantID=VAR_048262;Note=Polymorphism%3B does not affect DNA glycosylase activity. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20848659;Dbxref=dbSNP:rs35352891,PMID:20848659
Q9UIF7329392377377Natural variantID=VAR_077667;Note=In FAP2%3B decreased function in DNA repair. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=PMID:25820570
Q9UIF7329392385385Natural variantID=VAR_077668;Note=In FAP2%3B also found in multiple polyposis cases%3B loss of DNA glycosylase activity%3B loss of function in DNA repair. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16134147,ECO:0000269

check button Lost protein functional features of individual exon skipping events in Mayo.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q9UIF7329392358360Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X51
Q9UIF7329392366377Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X51
Q9UIF7329392379388Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X51
Q9UIF73293921546ChainID=PRO_0000102239;Note=Adenine DNA glycosylase
Q9UIF7329392364495DomainNote=Nudix hydrolase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00794
Q9UIF7329392330332HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3N5N
Q9UIF7329392335335Natural variantID=VAR_018874;Note=Polymorphism%3B does not affect function in DNA repair. Q->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12606733,ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16287
Q9UIF7329392335335Natural variantID=VAR_077666;Note=Found in a family with non-polyposis colorectal cancer-like syndrome%3B unknown pathological significance%3B does not affect function in DNA repair. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs1997
Q9UIF7329392370370Natural variantID=VAR_048262;Note=Polymorphism%3B does not affect DNA glycosylase activity. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20848659;Dbxref=dbSNP:rs35352891,PMID:20848659
Q9UIF7329392377377Natural variantID=VAR_077667;Note=In FAP2%3B decreased function in DNA repair. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=PMID:25820570
Q9UIF7329392385385Natural variantID=VAR_077668;Note=In FAP2%3B also found in multiple polyposis cases%3B loss of DNA glycosylase activity%3B loss of function in DNA repair. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16134147,ECO:0000269


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3'-UTR located exon skipping events that lost miRNA binding sites in MUTYH

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for MUTYH

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for MUTYH

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MUTYH

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
CBexon_skip_237942rs10890324chr1:453254824.729007e-071.880324e-04
CBexon_skip_237942rs3219472chr1:453383781.865977e-066.089917e-04
CBexon_skip_237942rs9429072chr1:453444191.865977e-066.089917e-04
CBexon_skip_237942rs2185549chr1:453484311.865977e-066.089917e-04
CBexon_skip_237942rs9429076chr1:453538171.865977e-066.089917e-04
TCexon_skip_237942rs10890324chr1:453254823.368031e-069.766017e-04
TCexon_skip_237942rs3219472chr1:453383782.389157e-055.097567e-03
TCexon_skip_237942rs2185549chr1:453484312.389157e-055.097567e-03
TCexon_skip_237942rs9429072chr1:453444196.210105e-051.120143e-02
TCexon_skip_237942rs9429076chr1:453538176.210105e-051.120143e-02
HCCexon_skip_251773rs1826691chr1:454155901.261047e-062.008165e-04
HCCexon_skip_251773rs1771551chr1:454179711.571008e-062.448291e-04
HCCexon_skip_251773rs3219472chr1:453383788.956263e-061.138949e-03
HCCexon_skip_251773rs9429072chr1:453444198.956263e-061.138949e-03
HCCexon_skip_251773rs2153608chr1:453482698.956263e-061.138949e-03
HCCexon_skip_251773rs2185549chr1:453484318.956263e-061.138949e-03
HCCexon_skip_251773rs4660849chr1:453542008.956263e-061.138949e-03
HCCexon_skip_251773rs9326141chr1:453632718.956263e-061.138949e-03
HCCexon_skip_251773rs7543428chr1:453739718.956263e-061.138949e-03
HCCexon_skip_251773rs4660852chr1:453832598.956263e-061.138949e-03
HCCexon_skip_251773rs11211101chr1:453836398.956263e-061.138949e-03
HCCexon_skip_251773rs2487442chr1:453915048.956263e-061.138949e-03
HCCexon_skip_251773rs2153609chr1:453483869.608812e-061.207887e-03
HCCexon_skip_251773rs9429076chr1:453538171.504410e-041.285906e-02
DLPFCexon_skip_237942rs3219472chr1:453383786.075453e-081.194652e-05
DLPFCexon_skip_237942rs9429072chr1:453444196.075453e-081.194652e-05
DLPFCexon_skip_237942rs2153608chr1:453482696.075453e-081.194652e-05
DLPFCexon_skip_237942rs2185549chr1:453484316.075453e-081.194652e-05
DLPFCexon_skip_237942rs4660849chr1:453542006.075453e-081.194652e-05
DLPFCexon_skip_237942rs9326141chr1:453632716.075453e-081.194652e-05
DLPFCexon_skip_237942rs7543428chr1:453739716.075453e-081.194652e-05
DLPFCexon_skip_237942rs4660852chr1:453832596.075453e-081.194652e-05
DLPFCexon_skip_237942rs11211101chr1:453836396.075453e-081.194652e-05
DLPFCexon_skip_237942rs2487442chr1:453915046.075453e-081.194652e-05
DLPFCexon_skip_237942rs2153609chr1:453483866.623038e-081.294692e-05
DLPFCexon_skip_237942rs9429076chr1:453538171.053889e-071.956847e-05
DLPFCexon_skip_237942rs1826691chr1:454155903.753259e-076.131871e-05
DLPFCexon_skip_237942rs1771551chr1:454179719.955563e-071.468516e-04
DLPFCexon_skip_237942rs10890324chr1:453254821.395274e-051.507573e-03
DLPFCexon_skip_237942rs2839963chr1:452666427.633728e-044.509270e-02

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Correlation with RNA binding proteins (RBPs) for MUTYH

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBZNF638exon_skip_99277-4.288263e-011.893493e-08
CBPCBP4exon_skip_992774.544853e-011.992526e-09
CBTRA2Aexon_skip_99277-4.728171e-013.544081e-10
CBRBM4Bexon_skip_99277-4.633029e-018.794905e-10
CBTRA2Aexon_skip_186405-4.508639e-013.497342e-09
CBTRA2Aexon_skip_145996-4.358657e-011.291752e-08

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RelatedDrugs for MUTYH

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MUTYH

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource