ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MUTYH

Gene summary

Gene information	Gene symbol	MUTYH
	Gene ID	4595
	Gene name	mutY DNA glycosylase
	Synonyms	MYH
	Cytomap	1p34.1
	Type of gene	protein-coding
	Description	adenine DNA glycosylaseA/G-specific adenine DNA glycosylasemutY homologmutY-like protein
	Modification date	20180523
	UniProtAcc	Q9UIF7
	Context	PubMed: MUTYH [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Exon skipping events across known transcript of Ensembl for MUTYH from UCSC genome browser

Skipped exons in TCGA and GTEx 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.

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Gene isoform structures and expression levels for MUTYH

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for MUTYH

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_26090	1	45794977:45795109:45795560:45795740:45796187:45796229	45795560:45795740	ENSG00000132781.13	ENST00000485271.1
exon_skip_26093	1	45796187:45796229:45796853:45797006:45797091:45797228	45796853:45797006	ENSG00000132781.13	ENST00000482094.1,ENST00000456914.2,ENST00000372100.5,ENST00000372115.3,ENST00000529892.1,ENST00000528332.2,ENST00000372110.3,ENST00000481571.1,ENST00000450313.1,ENST00000533178.1,ENST00000354383.6,ENST00000475516.1,ENST00000467459.1,ENST00000529984.1,ENS
exon_skip_26102	1	45797091:45797228:45797332:45797521:45797694:45797758	45797332:45797521	ENSG00000132781.13	ENST00000456914.2,ENST00000372100.5,ENST00000372115.3,ENST00000372110.3,ENST00000481571.1,ENST00000450313.1,ENST00000533178.1,ENST00000354383.6,ENST00000475516.1,ENST00000448481.1,ENST00000372098.3,ENST00000528013.2,ENST00000372104.1,ENST00000355498.2
exon_skip_26104	1	45797091:45797228:45797332:45797544:45797694:45797758	45797332:45797544	ENSG00000132781.13	ENST00000467459.1
exon_skip_26113	1	45797894:45797982:45798062:45798160:45798245:45798359	45798062:45798160	ENSG00000132781.13	ENST00000470256.1,ENST00000456914.2,ENST00000372100.5,ENST00000372115.3,ENST00000461495.1,ENST00000372110.3,ENST00000478796.1,ENST00000481571.1,ENST00000450313.1,ENST00000462388.1,ENST00000533178.1,ENST00000354383.6,ENST00000475516.1,ENST00000412971.1,ENS
exon_skip_26117	1	45798075:45798160:45798245:45798359:45798434:45798506	45798245:45798359	ENSG00000132781.13	ENST00000470256.1,ENST00000456914.2,ENST00000372100.5,ENST00000525160.1,ENST00000372115.3,ENST00000461495.1,ENST00000372110.3,ENST00000478796.1,ENST00000481571.1,ENST00000450313.1,ENST00000462388.1,ENST00000354383.6,ENST00000475516.1,ENST00000412971.1,ENS
exon_skip_26124	1	45798434:45798506:45798589:45798631:45798768:45798842	45798589:45798631	ENSG00000132781.13	ENST00000456914.2,ENST00000372100.5,ENST00000372115.3,ENST00000372110.3,ENST00000481571.1,ENST00000450313.1,ENST00000354383.6,ENST00000475516.1,ENST00000448481.1,ENST00000372098.3,ENST00000435155.1,ENST00000528013.2,ENST00000372104.1,ENST00000467940.1,ENS
exon_skip_26125	1	45798434:45798506:45798589:45798631:45798956:45798996	45798589:45798631	ENSG00000132781.13	ENST00000525160.1,ENST00000461495.1
exon_skip_26131	1	45798434:45798506:45800062:45800183:45805890:45806053	45800062:45800183	ENSG00000132781.13	ENST00000528332.2
exon_skip_26132	1	45798589:45798631:45798768:45798842:45798956:45798996	45798768:45798842	ENSG00000132781.13	ENST00000456914.2,ENST00000372100.5,ENST00000372115.3,ENST00000372110.3,ENST00000481571.1,ENST00000450313.1,ENST00000354383.6,ENST00000475516.1,ENST00000448481.1,ENST00000372098.3,ENST00000435155.1,ENST00000528013.2,ENST00000372104.1,ENST00000467940.1,ENS
exon_skip_26134	1	45798956:45798996:45799084:45799169:45800062:45800183	45799084:45799169	ENSG00000132781.13	ENST00000461495.1,ENST00000481571.1,ENST00000475516.1,ENST00000481139.1
exon_skip_26135	1	45798956:45798996:45799084:45799233:45800062:45800183	45799084:45799233	ENSG00000132781.13	ENST00000456914.2,ENST00000372115.3,ENST00000476789.1,ENST00000483642.1,ENST00000492494.1,ENST00000479746.2,ENST00000485484.1,ENST00000372104.1,ENST00000355498.2
exon_skip_26136	1	45798956:45798996:45799084:45799236:45800062:45800183	45799084:45799236	ENSG00000132781.13	ENST00000470256.1,ENST00000372110.3,ENST00000354383.6,ENST00000467940.1
exon_skip_26137	1	45798956:45798996:45799084:45799266:45800062:45800183	45799084:45799266	ENSG00000132781.13	ENST00000372100.5,ENST00000474703.1,ENST00000448481.1,ENST00000372098.3,ENST00000435155.1
exon_skip_26138	1	45798956:45798996:45799084:45799275:45800062:45800183	45799084:45799275	ENSG00000132781.13	ENST00000450313.1,ENST00000528013.2
exon_skip_26141	1	45799084:45799169:45800062:45800183:45805647:45805667	45800062:45800183	ENSG00000132781.13	ENST00000475516.1
exon_skip_26147	1	45800062:45800183:45803857:45804328:45805570:45805607	45803857:45804328	ENSG00000132781.13	ENST00000483127.1
exon_skip_26150	1	45800062:45800183:45804178:45804328:45805570:45805607	45804178:45804328	ENSG00000132781.13	ENST00000372104.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MUTYH

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_26090	1	45794977:45795109:45795560:45795740:45796187:45796229	45795560:45795740	ENSG00000132781.13	ENST00000485271.1
exon_skip_26093	1	45796187:45796229:45796853:45797006:45797091:45797228	45796853:45797006	ENSG00000132781.13	ENST00000529984.1,ENST00000528332.2,ENST00000372104.1,ENST00000448481.1,ENST00000456914.2,ENST00000354383.6,ENST00000475516.1,ENST00000355498.2,ENST00000372098.3,ENST00000481571.1,ENST00000372110.3,ENST00000372115.3,ENST00000488731.2,ENST00000450313.1,ENS
exon_skip_26102	1	45797091:45797228:45797332:45797521:45797694:45797758	45797332:45797521	ENSG00000132781.13	ENST00000372104.1,ENST00000448481.1,ENST00000456914.2,ENST00000354383.6,ENST00000475516.1,ENST00000355498.2,ENST00000372098.3,ENST00000481571.1,ENST00000372110.3,ENST00000372115.3,ENST00000450313.1,ENST00000372100.5,ENST00000533178.1,ENST00000528013.2
exon_skip_26104	1	45797091:45797228:45797332:45797544:45797694:45797758	45797332:45797544	ENSG00000132781.13	ENST00000467459.1
exon_skip_26113	1	45797894:45797982:45798062:45798160:45798245:45798359	45798062:45798160	ENSG00000132781.13	ENST00000372104.1,ENST00000448481.1,ENST00000456914.2,ENST00000354383.6,ENST00000475516.1,ENST00000355498.2,ENST00000372098.3,ENST00000481571.1,ENST00000372110.3,ENST00000372115.3,ENST00000450313.1,ENST00000372100.5,ENST00000533178.1,ENST00000528013.2,ENS
exon_skip_26117	1	45798075:45798160:45798245:45798359:45798434:45798506	45798245:45798359	ENSG00000132781.13	ENST00000372104.1,ENST00000448481.1,ENST00000456914.2,ENST00000354383.6,ENST00000475516.1,ENST00000355498.2,ENST00000372098.3,ENST00000481571.1,ENST00000372110.3,ENST00000372115.3,ENST00000450313.1,ENST00000372100.5,ENST00000528013.2,ENST00000412971.1,ENS
exon_skip_26124	1	45798434:45798506:45798589:45798631:45798768:45798842	45798589:45798631	ENSG00000132781.13	ENST00000372104.1,ENST00000448481.1,ENST00000456914.2,ENST00000354383.6,ENST00000475516.1,ENST00000355498.2,ENST00000372098.3,ENST00000481571.1,ENST00000372110.3,ENST00000372115.3,ENST00000450313.1,ENST00000372100.5,ENST00000528013.2,ENST00000435155.1,ENS
exon_skip_26125	1	45798434:45798506:45798589:45798631:45798956:45798996	45798589:45798631	ENSG00000132781.13	ENST00000461495.1,ENST00000525160.1
exon_skip_26131	1	45798434:45798506:45800062:45800183:45805890:45806053	45800062:45800183	ENSG00000132781.13	ENST00000528332.2
exon_skip_26132	1	45798589:45798631:45798768:45798842:45798956:45798996	45798768:45798842	ENSG00000132781.13	ENST00000372104.1,ENST00000448481.1,ENST00000456914.2,ENST00000354383.6,ENST00000475516.1,ENST00000355498.2,ENST00000372098.3,ENST00000481571.1,ENST00000372110.3,ENST00000372115.3,ENST00000450313.1,ENST00000372100.5,ENST00000528013.2,ENST00000435155.1,ENS
exon_skip_26134	1	45798956:45798996:45799084:45799169:45800062:45800183	45799084:45799169	ENSG00000132781.13	ENST00000475516.1,ENST00000481571.1,ENST00000461495.1,ENST00000481139.1
exon_skip_26135	1	45798956:45798996:45799084:45799233:45800062:45800183	45799084:45799233	ENSG00000132781.13	ENST00000372104.1,ENST00000456914.2,ENST00000355498.2,ENST00000372115.3,ENST00000479746.2,ENST00000492494.1,ENST00000483642.1,ENST00000485484.1,ENST00000476789.1
exon_skip_26136	1	45798956:45798996:45799084:45799236:45800062:45800183	45799084:45799236	ENSG00000132781.13	ENST00000354383.6,ENST00000372110.3,ENST00000470256.1,ENST00000467940.1
exon_skip_26137	1	45798956:45798996:45799084:45799266:45800062:45800183	45799084:45799266	ENSG00000132781.13	ENST00000448481.1,ENST00000372098.3,ENST00000372100.5,ENST00000435155.1,ENST00000474703.1
exon_skip_26138	1	45798956:45798996:45799084:45799275:45800062:45800183	45799084:45799275	ENSG00000132781.13	ENST00000450313.1,ENST00000528013.2
exon_skip_26141	1	45799084:45799169:45800062:45800183:45805647:45805667	45800062:45800183	ENSG00000132781.13	ENST00000475516.1
exon_skip_26147	1	45800062:45800183:45803857:45804328:45805570:45805607	45803857:45804328	ENSG00000132781.13	ENST00000483127.1
exon_skip_26150	1	45800062:45800183:45804178:45804328:45805570:45805607	45804178:45804328	ENSG00000132781.13	ENST00000372104.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000372098	45798062	45798160	Frame-shift
ENST00000372098	45798768	45798842	Frame-shift
ENST00000372098	45799084	45799266	Frame-shift
ENST00000372098	45796853	45797006	In-frame
ENST00000372098	45797332	45797521	In-frame
ENST00000372098	45798245	45798359	In-frame
ENST00000372098	45798589	45798631	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000372098	45798062	45798160	Frame-shift
ENST00000372098	45798768	45798842	Frame-shift
ENST00000372098	45799084	45799266	Frame-shift
ENST00000372098	45796853	45797006	In-frame
ENST00000372098	45797332	45797521	In-frame
ENST00000372098	45798245	45798359	In-frame
ENST00000372098	45798589	45798631	In-frame

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

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000372098	1856	546	45798589	45798631	588	629	151	165
ENST00000372098	1856	546	45798245	45798359	702	815	189	227
ENST00000372098	1856	546	45797332	45797521	1123	1311	329	392
ENST00000372098	1856	546	45796853	45797006	1449	1601	438	489

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000372098	1856	546	45798589	45798631	588	629	151	165
ENST00000372098	1856	546	45798245	45798359	702	815	189	227
ENST00000372098	1856	546	45797332	45797521	1123	1311	329	392
ENST00000372098	1856	546	45796853	45797006	1449	1601	438	489

Lost protein functional features of individual exon skipping events in TCGA.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q9UIF7	151	165	1	546	Chain	ID=PRO_0000102239;Note=Adenine DNA glycosylase
Q9UIF7	151	165	139	152	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	151	165	156	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	151	165	164	171	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	151	165	154	154	Natural variant	ID=VAR_077646;Note=In FAP2%3B decreased function in DNA repair. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16557584,ECO:0000269\|PubMed:25820570;Dbxref=dbSNP:rs777184451,PMID:16557584,PMID:25820570
Q9UIF7	189	227	1	546	Chain	ID=PRO_0000102239;Note=Adenine DNA glycosylase
Q9UIF7	189	227	177	193	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	189	227	202	208	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	189	227	214	224	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	189	227	213	213	Natural variant	ID=VAR_077650;Note=In FAP2. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18515411;Dbxref=dbSNP:rs768553551,PMID:18515411
Q9UIF7	189	227	220	220	Natural variant	ID=VAR_077651;Note=In FAP2%3B also found in multiple polyposis case%3B unknown pathological significance%3B reduced DNA glycosylase activity%3B no effect on function in DNA repair. I->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:000026
Q9UIF7	189	227	224	224	Natural variant	ID=VAR_077652;Note=Functional polymorphism%3B decreased function in DNA repair. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25820570;Dbxref=dbSNP:rs11545695,PMID:25820570
Q9UIF7	329	392	358	360	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	329	392	366	377	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	329	392	379	388	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	329	392	1	546	Chain	ID=PRO_0000102239;Note=Adenine DNA glycosylase
Q9UIF7	329	392	364	495	Domain	Note=Nudix hydrolase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00794
Q9UIF7	329	392	330	332	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	329	392	335	335	Natural variant	ID=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
Q9UIF7	329	392	335	335	Natural variant	ID=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
Q9UIF7	329	392	370	370	Natural variant	ID=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
Q9UIF7	329	392	377	377	Natural variant	ID=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
Q9UIF7	329	392	385	385	Natural variant	ID=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
Q9UIF7	438	489	447	456	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	438	489	470	474	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	438	489	1	546	Chain	ID=PRO_0000102239;Note=Adenine DNA glycosylase
Q9UIF7	438	489	364	495	Domain	Note=Nudix hydrolase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00794
Q9UIF7	438	489	475	480	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	438	489	485	495	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	438	489	470	470	Natural variant	ID=VAR_077674;Note=In FAP2%3B loss of function in DNA repair. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25820570;Dbxref=dbSNP:rs200844166,PMID:25820570
Q9UIF7	438	489	470	470	Natural variant	ID=VAR_077675;Note=Found in patient with multiple polyposis%3B unknown pathological significance%3B does not affect function in DNA repair. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25820570;Dbxref=dbSNP:rs192816572,PMID:25820570
Q9UIF7	438	489	474	474	Natural variant	ID=VAR_077676;Note=In FAP2%3B unknown pathological significance. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18515411;Dbxref=dbSNP:rs767747402,PMID:18515411
Q9UIF7	438	489	477	477	Natural variant	ID=VAR_064941;Note=In FAP2%3B also found in a case of sporadic colorectal cancer%3B loss of DNA glycosylase activity%3B loss of DNA binding%3B loss of function in DNA repair. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:000026
Q9UIF7	438	489	486	486	Natural variant	ID=VAR_077677;Note=In FAP2%3B decreased function in DNA repair. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25820570;Dbxref=dbSNP:rs587782263,PMID:25820570

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q9UIF7	151	165	1	546	Chain	ID=PRO_0000102239;Note=Adenine DNA glycosylase
Q9UIF7	151	165	139	152	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	151	165	156	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	151	165	164	171	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	151	165	154	154	Natural variant	ID=VAR_077646;Note=In FAP2%3B decreased function in DNA repair. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16557584,ECO:0000269\|PubMed:25820570;Dbxref=dbSNP:rs777184451,PMID:16557584,PMID:25820570
Q9UIF7	189	227	1	546	Chain	ID=PRO_0000102239;Note=Adenine DNA glycosylase
Q9UIF7	189	227	177	193	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	189	227	202	208	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	189	227	214	224	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	189	227	213	213	Natural variant	ID=VAR_077650;Note=In FAP2. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18515411;Dbxref=dbSNP:rs768553551,PMID:18515411
Q9UIF7	189	227	220	220	Natural variant	ID=VAR_077651;Note=In FAP2%3B also found in multiple polyposis case%3B unknown pathological significance%3B reduced DNA glycosylase activity%3B no effect on function in DNA repair. I->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:000026
Q9UIF7	189	227	224	224	Natural variant	ID=VAR_077652;Note=Functional polymorphism%3B decreased function in DNA repair. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25820570;Dbxref=dbSNP:rs11545695,PMID:25820570
Q9UIF7	329	392	358	360	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	329	392	366	377	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	329	392	379	388	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	329	392	1	546	Chain	ID=PRO_0000102239;Note=Adenine DNA glycosylase
Q9UIF7	329	392	364	495	Domain	Note=Nudix hydrolase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00794
Q9UIF7	329	392	330	332	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3N5N
Q9UIF7	329	392	335	335	Natural variant	ID=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
Q9UIF7	329	392	335	335	Natural variant	ID=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
Q9UIF7	329	392	370	370	Natural variant	ID=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
Q9UIF7	329	392	377	377	Natural variant	ID=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
Q9UIF7	329	392	385	385	Natural variant	ID=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
Q9UIF7	438	489	447	456	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	438	489	470	474	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	438	489	1	546	Chain	ID=PRO_0000102239;Note=Adenine DNA glycosylase
Q9UIF7	438	489	364	495	Domain	Note=Nudix hydrolase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00794
Q9UIF7	438	489	475	480	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	438	489	485	495	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X51
Q9UIF7	438	489	470	470	Natural variant	ID=VAR_077674;Note=In FAP2%3B loss of function in DNA repair. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25820570;Dbxref=dbSNP:rs200844166,PMID:25820570
Q9UIF7	438	489	470	470	Natural variant	ID=VAR_077675;Note=Found in patient with multiple polyposis%3B unknown pathological significance%3B does not affect function in DNA repair. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25820570;Dbxref=dbSNP:rs192816572,PMID:25820570
Q9UIF7	438	489	474	474	Natural variant	ID=VAR_077676;Note=In FAP2%3B unknown pathological significance. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18515411;Dbxref=dbSNP:rs767747402,PMID:18515411
Q9UIF7	438	489	477	477	Natural variant	ID=VAR_064941;Note=In FAP2%3B also found in a case of sporadic colorectal cancer%3B loss of DNA glycosylase activity%3B loss of DNA binding%3B loss of function in DNA repair. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:000026
Q9UIF7	438	489	486	486	Natural variant	ID=VAR_077677;Note=In FAP2%3B decreased function in DNA repair. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25820570;Dbxref=dbSNP:rs587782263,PMID:25820570

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SNVs in the skipped exons for MUTYH

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LGG	TCGA-WY-A85A-01	exon_skip_26093	45796854	45797006	45796886	45796886	Frame_Shift_Del	G	-	p.H482fs
LIHC	TCGA-DD-A1EG-01	exon_skip_26093	45796854	45797006	45796936	45796936	Frame_Shift_Del	G	-	p.P465fs
PAAD	TCGA-XD-AAUL-01	exon_skip_26093	45796854	45797006	45796949	45796949	Frame_Shift_Del	C	-	p.E458fs
PAAD	TCGA-XD-AAUL-01	exon_skip_26093	45796854	45797006	45796949	45796949	Frame_Shift_Del	C	-	p.E461fs
LIHC	TCGA-DD-A39Y-01	exon_skip_26113	45798063	45798160	45798127	45798127	Frame_Shift_Del	C	-	p.V242fs
LUAD	TCGA-86-6851-01	exon_skip_26132	45798769	45798842	45798843	45798843	Splice_Site	C	A	p.V127_splice

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
NCIH513_PLEURA	45800063	45800183	45800085	45800088	Frame_Shift_Del	CTGA	-	p.SQ44fs
CHLA9_BONE	45796854	45797006	45796893	45796893	Missense_Mutation	C	G	p.E476D
UMUC3_URINARY_TRACT	45796854	45797006	45796913	45796913	Missense_Mutation	C	T	p.A470T
CCK81_LARGE_INTESTINE	45796854	45797006	45796940	45796940	Missense_Mutation	T	C	p.T461A
SKPNDW_BONE	45796854	45797006	45796998	45796998	Missense_Mutation	G	T	p.H441Q
MUGCHOR1_BONE	45797333	45797544	45797380	45797380	Missense_Mutation	G	C	p.P377R
MUGCHOR1_BONE	45797333	45797521	45797380	45797380	Missense_Mutation	G	C	p.P377R
AN3CA_ENDOMETRIUM	45797333	45797544	45797429	45797429	Missense_Mutation	G	A	p.R361C
AN3CA_ENDOMETRIUM	45797333	45797521	45797429	45797429	Missense_Mutation	G	A	p.R361C
NCIH1693_LUNG	45797333	45797544	45797482	45797482	Missense_Mutation	G	A	p.S343L
NCIH1693_LUNG	45797333	45797521	45797482	45797482	Missense_Mutation	G	A	p.S343L
NCIH1819_LUNG	45797333	45797544	45797482	45797482	Missense_Mutation	G	A	p.S343L
NCIH1819_LUNG	45797333	45797521	45797482	45797482	Missense_Mutation	G	A	p.S343L
HEPG2_LIVER	45797333	45797544	45797519	45797519	Missense_Mutation	G	C	p.P331A
HEPG2_LIVER	45797333	45797521	45797519	45797519	Missense_Mutation	G	C	p.P331A
OAW28_OVARY	45797333	45797544	45797519	45797519	Missense_Mutation	G	C	p.P331A
OAW28_OVARY	45797333	45797521	45797519	45797519	Missense_Mutation	G	C	p.P331A
TTC642_SOFT_TISSUE	45798246	45798359	45798286	45798286	Missense_Mutation	C	T	p.R214H
NCIH1155_LUNG	45798246	45798359	45798328	45798328	Missense_Mutation	C	T	p.R200H
NCIH1623_LUNG	45798769	45798842	45798833	45798833	Missense_Mutation	G	A	p.S130L
LS513_LARGE_INTESTINE	45799085	45799275	45799143	45799143	Missense_Mutation	C	T	p.R94Q
LS513_LARGE_INTESTINE	45799085	45799169	45799143	45799143	Missense_Mutation	C	T	p.R94Q
LS513_LARGE_INTESTINE	45799085	45799233	45799143	45799143	Missense_Mutation	C	T	p.R94Q
LS513_LARGE_INTESTINE	45799085	45799236	45799143	45799143	Missense_Mutation	C	T	p.R94Q
LS513_LARGE_INTESTINE	45799085	45799266	45799143	45799143	Missense_Mutation	C	T	p.R94Q
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	45799085	45799275	45799143	45799143	Missense_Mutation	C	T	p.R94Q
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	45799085	45799169	45799143	45799143	Missense_Mutation	C	T	p.R94Q
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	45799085	45799233	45799143	45799143	Missense_Mutation	C	T	p.R94Q
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	45799085	45799236	45799143	45799143	Missense_Mutation	C	T	p.R94Q
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	45799085	45799266	45799143	45799143	Missense_Mutation	C	T	p.R94Q
HCC1588_LUNG	45799085	45799275	45799143	45799143	Missense_Mutation	C	T	p.R94Q
HCC1588_LUNG	45799085	45799169	45799143	45799143	Missense_Mutation	C	T	p.R94Q
HCC1588_LUNG	45799085	45799233	45799143	45799143	Missense_Mutation	C	T	p.R94Q
HCC1588_LUNG	45799085	45799236	45799143	45799143	Missense_Mutation	C	T	p.R94Q
HCC1588_LUNG	45799085	45799266	45799143	45799143	Missense_Mutation	C	T	p.R94Q
NCIH1770_LUNG	45799085	45799275	45799189	45799189	Missense_Mutation	A	T	p.S79T
NCIH1770_LUNG	45799085	45799233	45799189	45799189	Missense_Mutation	A	T	p.S79T
NCIH1770_LUNG	45799085	45799236	45799189	45799189	Missense_Mutation	A	T	p.S79T
NCIH1770_LUNG	45799085	45799266	45799189	45799189	Missense_Mutation	A	T	p.S79T
NCIH2106_LUNG	45799085	45799275	45799189	45799189	Missense_Mutation	A	T	p.S79T
NCIH2106_LUNG	45799085	45799233	45799189	45799189	Missense_Mutation	A	T	p.S79T
NCIH2106_LUNG	45799085	45799236	45799189	45799189	Missense_Mutation	A	T	p.S79T
NCIH2106_LUNG	45799085	45799266	45799189	45799189	Missense_Mutation	A	T	p.S79T
NCIH2110_LUNG	45799085	45799275	45799243	45799243	Missense_Mutation	C	A	p.A61S
NCIH2110_LUNG	45799085	45799266	45799243	45799243	Missense_Mutation	C	A	p.A61S
NCIH1155_LUNG	45800063	45800183	45800089	45800089	Missense_Mutation	C	T	p.S44N
LS411N_LARGE_INTESTINE	45797333	45797544	45797348	45797348	Nonsense_Mutation	G	A	p.Q388*
LS411N_LARGE_INTESTINE	45797333	45797521	45797348	45797348	Nonsense_Mutation	G	A	p.Q388*
NCIH128_LUNG	45798590	45798631	45798592	45798592	Nonsense_Mutation	C	A	p.E165*
OVCA433_OVARY	45798590	45798631	45798616	45798616	Nonsense_Mutation	G	A	p.Q157*
NCIH513_PLEURA	45798769	45798842	45798831	45798831	Nonsense_Mutation	C	A	p.E131*
NCIH1573_LUNG	45798246	45798359	45798247	45798247	Splice_Site	T	A	p.Q227L
SF268_CENTRAL_NERVOUS_SYSTEM	45799085	45799275	45799266	45799266	Splice_Site	C	T	p.G53E
SF268_CENTRAL_NERVOUS_SYSTEM	45799085	45799266	45799266	45799266	Splice_Site	C	T	p.G53E
SNU1040_LARGE_INTESTINE	45800063	45800183	45800063	45800063	Splice_Site	C	T	p.G53R

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

sQTL information located at the skipped exons.

Exon skip ID	Chromosome	Three exons	Skippped exon	ENST	Cancer type	SNP id	Location	DNA change (ref/var)	P-value
exon_skip_26147	1	45800062:45800183:45803857:45804328:45805570:45805607	45803857:45804328	ENST00000483127.1	BRCA	rs3219472	chr1:45804050	A/G	7.90e-04
exon_skip_26104	1	45797091:45797228:45797332:45797544:45797694:45797758	45797332:45797544	ENST00000467459.1	BRCA	rs3219489	chr1:45797505	C/G	5.56e-04
exon_skip_26102	1	45797091:45797228:45797332:45797521:45797694:45797758	45797332:45797521	ENST00000456914.2,ENST00000372100.5,ENST00000372115.3,ENST00000372110.3,ENST00000481571.1,ENST00000450313.1,ENST00000533178.1,ENST00000354383.6,ENST00000475516.1,ENST00000448481.1,ENST00000372098.3,ENST00000528013.2,ENST00000372104.1,ENST00000355498.2	BRCA	rs3219489	chr1:45797505	C/G	5.56e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUTYH

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUTYH

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RelatedDrugs for MUTYH

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for MUTYH

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MUTYH	C1837991	Colorectal Adenomatous Polyposis, Autosomal Recessive	15	CTD_human;ORPHANET;UNIPROT
MUTYH	C0699791	Stomach Carcinoma	2	HPO;UNIPROT
MUTYH	C0009375	Colonic Neoplasms	1	CTD_human
MUTYH	C0032580	Adenomatous Polyposis Coli	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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