ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MICAL2

Gene summary

Gene information	Gene symbol	MICAL2
	Gene ID	9645
	Gene name	microtubule associated monooxygenase, calponin and LIM domain containing 2
	Synonyms	MICAL-2\|MICAL2PV1\|MICAL2PV2
	Cytomap	11p15.3
	Type of gene	protein-coding
	Description	[F-actin]-monooxygenase MICAL2[F-actin]-methionine sulfoxide oxidase MICAL2flavoprotein oxidoreductase MICAL2microtubule associated monoxygenase, calponin and LIM domain containing 2molecule interacting with CasL protein 2protein-methionine sulfoxide
	Modification date	20180519
	UniProtAcc	O94851
	Context	PubMed: MICAL2 [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
MICAL2	GO:0007010	cytoskeleton organization	24440334
MICAL2	GO:0030042	actin filament depolymerization	24440334
MICAL2	GO:0055114	oxidation-reduction process	24440334

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Exon skipping events across known transcript of Ensembl for MICAL2 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 MICAL2

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 MICAL2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_56961	11	12132151:12132273:12159936:12160007:12183625:12183713	12159936:12160007	ENSG00000133816.9	ENST00000531732.1
exon_skip_56962	11	12132151:12132273:12159936:12160011:12183625:12183713	12159936:12160011	ENSG00000133816.9	ENST00000256194.4
exon_skip_56971	11	12159936:12160007:12174770:12174863:12183625:12183713	12174770:12174863	ENSG00000133816.9	ENST00000530823.1
exon_skip_56972	11	12183702:12183966:12225796:12226004:12229569:12229686	12225796:12226004	ENSG00000133816.9	ENST00000531732.1,ENST00000528931.1,ENST00000527546.1,ENST00000256194.4,ENST00000537344.1,ENST00000342902.5,ENST00000379612.3
exon_skip_56974	11	12229569:12229686:12231043:12231145:12234801:12234957	12231043:12231145	ENSG00000133816.9	ENST00000528931.1,ENST00000527546.1,ENST00000256194.4,ENST00000537344.1,ENST00000530691.1,ENST00000342902.5,ENST00000379612.3
exon_skip_56977	11	12237765:12237866:12241747:12242005:12243190:12243306	12241747:12242005	ENSG00000133816.9	ENST00000528931.1,ENST00000527546.1,ENST00000256194.4,ENST00000537344.1,ENST00000530691.1,ENST00000342902.5,ENST00000379612.3
exon_skip_56980	11	12243190:12243306:12244163:12244290:12244957:12245048	12244163:12244290	ENSG00000133816.9	ENST00000528931.1,ENST00000527546.1,ENST00000256194.4,ENST00000537344.1,ENST00000530691.1,ENST00000342902.5,ENST00000379612.3
exon_skip_56981	11	12248571:12248678:12257723:12257792:12260982:12261132	12257723:12257792	ENSG00000133816.9	ENST00000528931.1,ENST00000527546.1,ENST00000256194.4,ENST00000537344.1,ENST00000530691.1,ENST00000342902.5,ENST00000379612.3,ENST00000526475.1
exon_skip_56986	11	12257723:12257792:12260982:12261132:12270730:12270793	12260982:12261132	ENSG00000133816.9	ENST00000527546.1,ENST00000537344.1,ENST00000379612.3
exon_skip_56987	11	12257723:12257792:12260982:12261132:12278331:12278456	12260982:12261132	ENSG00000133816.9	ENST00000528931.1,ENST00000530691.1
exon_skip_56990	11	12261006:12261132:12262586:12262709:12263760:12263979	12262586:12262709	ENSG00000133816.9	ENST00000256194.4,ENST00000342902.5
exon_skip_56998	11	12261006:12261132:12270730:12270793:12277189:12277297	12270730:12270793	ENSG00000133816.9	ENST00000527546.1,ENST00000537344.1
exon_skip_56999	11	12261006:12261132:12270730:12270793:12278331:12278456	12270730:12270793	ENSG00000133816.9	ENST00000379612.3
exon_skip_57007	11	12265533:12265659:12270730:12270793:12277189:12277297	12270730:12270793	ENSG00000133816.9	ENST00000256194.4
exon_skip_57009	11	12265533:12265659:12277189:12277297:12278331:12278456	12277189:12277297	ENSG00000133816.9	ENST00000342902.5
exon_skip_57011	11	12270730:12270793:12277189:12277297:12278331:12278456	12277189:12277297	ENSG00000133816.9	ENST00000527546.1,ENST00000256194.4,ENST00000537344.1,ENST00000525979.1
exon_skip_57013	11	12271487:12271820:12277189:12277297:12278331:12278456	12277189:12277297	ENSG00000133816.9	ENST00000526672.1
exon_skip_57015	11	12281341:12281444:12284026:12284084:12285106:12285135	12284026:12284084	ENSG00000133816.9	ENST00000256194.4,ENST00000342902.5,ENST00000525444.1
exon_skip_57016	11	12281341:12281444:12284026:12284182:12285106:12285135	12284026:12284182	ENSG00000133816.9	ENST00000525618.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MICAL2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_56961	11	12132151:12132273:12159936:12160007:12183625:12183713	12159936:12160007	ENSG00000133816.9	ENST00000531732.1
exon_skip_56962	11	12132151:12132273:12159936:12160011:12183625:12183713	12159936:12160011	ENSG00000133816.9	ENST00000256194.4
exon_skip_56971	11	12159936:12160007:12174770:12174863:12183625:12183713	12174770:12174863	ENSG00000133816.9	ENST00000530823.1
exon_skip_56972	11	12183702:12183966:12225796:12226004:12229569:12229686	12225796:12226004	ENSG00000133816.9	ENST00000537344.1,ENST00000256194.4,ENST00000531732.1,ENST00000527546.1,ENST00000342902.5,ENST00000528931.1,ENST00000379612.3
exon_skip_56974	11	12229569:12229686:12231043:12231145:12234801:12234957	12231043:12231145	ENSG00000133816.9	ENST00000537344.1,ENST00000256194.4,ENST00000527546.1,ENST00000342902.5,ENST00000528931.1,ENST00000379612.3,ENST00000530691.1
exon_skip_56977	11	12237765:12237866:12241747:12242005:12243190:12243306	12241747:12242005	ENSG00000133816.9	ENST00000537344.1,ENST00000256194.4,ENST00000527546.1,ENST00000342902.5,ENST00000528931.1,ENST00000379612.3,ENST00000530691.1
exon_skip_56980	11	12243190:12243306:12244163:12244290:12244957:12245048	12244163:12244290	ENSG00000133816.9	ENST00000537344.1,ENST00000256194.4,ENST00000527546.1,ENST00000342902.5,ENST00000528931.1,ENST00000379612.3,ENST00000530691.1
exon_skip_56981	11	12248571:12248678:12257723:12257792:12260982:12261132	12257723:12257792	ENSG00000133816.9	ENST00000537344.1,ENST00000256194.4,ENST00000527546.1,ENST00000342902.5,ENST00000528931.1,ENST00000379612.3,ENST00000530691.1,ENST00000526475.1
exon_skip_56986	11	12257723:12257792:12260982:12261132:12270730:12270793	12260982:12261132	ENSG00000133816.9	ENST00000537344.1,ENST00000527546.1,ENST00000379612.3
exon_skip_56987	11	12257723:12257792:12260982:12261132:12278331:12278456	12260982:12261132	ENSG00000133816.9	ENST00000528931.1,ENST00000530691.1
exon_skip_56990	11	12261006:12261132:12262586:12262709:12263760:12263979	12262586:12262709	ENSG00000133816.9	ENST00000256194.4,ENST00000342902.5
exon_skip_56998	11	12261006:12261132:12270730:12270793:12277189:12277297	12270730:12270793	ENSG00000133816.9	ENST00000537344.1,ENST00000527546.1
exon_skip_56999	11	12261006:12261132:12270730:12270793:12278331:12278456	12270730:12270793	ENSG00000133816.9	ENST00000379612.3
exon_skip_57007	11	12265533:12265659:12270730:12270793:12277189:12277297	12270730:12270793	ENSG00000133816.9	ENST00000256194.4
exon_skip_57009	11	12265533:12265659:12277189:12277297:12278331:12278456	12277189:12277297	ENSG00000133816.9	ENST00000342902.5
exon_skip_57011	11	12270730:12270793:12277189:12277297:12278331:12278456	12277189:12277297	ENSG00000133816.9	ENST00000537344.1,ENST00000256194.4,ENST00000527546.1,ENST00000525979.1
exon_skip_57013	11	12271487:12271820:12277189:12277297:12278331:12278456	12277189:12277297	ENSG00000133816.9	ENST00000526672.1
exon_skip_57015	11	12281341:12281444:12284026:12284084:12285106:12285135	12284026:12284084	ENSG00000133816.9	ENST00000256194.4,ENST00000342902.5,ENST00000525444.1
exon_skip_57016	11	12281341:12281444:12284026:12284182:12285106:12285135	12284026:12284182	ENSG00000133816.9	ENST00000525618.1

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 MICAL2

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
ENST00000256194	12284026	12284084	3UTR-3CDS
ENST00000256194	12159936	12160011	5UTR-5UTR
ENST00000256194	12225796	12226004	Frame-shift
ENST00000256194	12244163	12244290	Frame-shift
ENST00000256194	12231043	12231145	In-frame
ENST00000256194	12241747	12242005	In-frame
ENST00000256194	12257723	12257792	In-frame
ENST00000256194	12262586	12262709	In-frame
ENST00000256194	12270730	12270793	In-frame
ENST00000256194	12277189	12277297	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
ENST00000256194	12284026	12284084	3UTR-3CDS
ENST00000256194	12159936	12160011	5UTR-5UTR
ENST00000256194	12225796	12226004	Frame-shift
ENST00000256194	12244163	12244290	Frame-shift
ENST00000256194	12231043	12231145	In-frame
ENST00000256194	12241747	12242005	In-frame
ENST00000256194	12257723	12257792	In-frame
ENST00000256194	12262586	12262709	In-frame
ENST00000256194	12270730	12270793	In-frame
ENST00000256194	12277189	12277297	In-frame

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Infer the effects of exon skipping event on protein functional features for MICAL2

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
ENST00000256194	3923	1124	12231043	12231145	878	979	196	230
ENST00000256194	3923	1124	12241747	12242005	1237	1494	316	402
ENST00000256194	3923	1124	12257723	12257792	2284	2352	665	688
ENST00000256194	3923	1124	12262586	12262709	2503	2625	738	779
ENST00000256194	3923	1124	12270730	12270793	3073	3135	928	949
ENST00000256194	3923	1124	12277189	12277297	3136	3243	949	985

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
ENST00000256194	3923	1124	12231043	12231145	878	979	196	230
ENST00000256194	3923	1124	12241747	12242005	1237	1494	316	402
ENST00000256194	3923	1124	12257723	12257792	2284	2352	665	688
ENST00000256194	3923	1124	12262586	12262709	2503	2625	738	779
ENST00000256194	3923	1124	12270730	12270793	3073	3135	928	949
ENST00000256194	3923	1124	12277189	12277297	3136	3243	949	985

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
O94851	196	230	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2
O94851	196	230	220	220	Natural variant	ID=VAR_021992;Note=I->V;Dbxref=dbSNP:rs2306727
O94851	196	230	2	494	Region	Note=Monooxygenase domain;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VDP3
O94851	196	230	208	208	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O94851	316	402	398	398	Binding site	Note=FAD;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VDP3
O94851	316	402	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2
O94851	316	402	2	494	Region	Note=Monooxygenase domain;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VDP3
O94851	665	688	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2
O94851	665	688	660	681	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24440334;Dbxref=PMID:24440334
O94851	665	688	677	681	Mutagenesis	Note=In MICAL-2NLSMut%3B abolishes nuclear localization. KRRRK->AAAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24440334;Dbxref=PMID:24440334
O94851	665	688	687	687	Natural variant	ID=VAR_050156;Note=D->E;Dbxref=dbSNP:rs3794084
O94851	738	779	739	985	Alternative sequence	ID=VSP_042593;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:16675569;Dbxref=PMID:16675569
O94851	738	779	739	928	Alternative sequence	ID=VSP_042594;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:16675569;Dbxref=PMID:14702039,PMID:16675569
O94851	738	779	740	986	Alternative sequence	ID=VSP_009860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O94851	738	779	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2
O94851	928	949	739	985	Alternative sequence	ID=VSP_042593;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:16675569;Dbxref=PMID:16675569
O94851	928	949	739	928	Alternative sequence	ID=VSP_042594;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:16675569;Dbxref=PMID:14702039,PMID:16675569
O94851	928	949	740	986	Alternative sequence	ID=VSP_009860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O94851	928	949	929	949	Alternative sequence	ID=VSP_042595;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O94851	928	949	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2
O94851	949	985	739	985	Alternative sequence	ID=VSP_042593;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:16675569;Dbxref=PMID:16675569
O94851	949	985	740	986	Alternative sequence	ID=VSP_009860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O94851	949	985	929	949	Alternative sequence	ID=VSP_042595;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O94851	949	985	950	985	Alternative sequence	ID=VSP_042596;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:16675569;Dbxref=PMID:16675569
O94851	949	985	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2

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
O94851	196	230	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2
O94851	196	230	220	220	Natural variant	ID=VAR_021992;Note=I->V;Dbxref=dbSNP:rs2306727
O94851	196	230	2	494	Region	Note=Monooxygenase domain;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VDP3
O94851	196	230	208	208	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O94851	316	402	398	398	Binding site	Note=FAD;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VDP3
O94851	316	402	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2
O94851	316	402	2	494	Region	Note=Monooxygenase domain;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VDP3
O94851	665	688	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2
O94851	665	688	660	681	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24440334;Dbxref=PMID:24440334
O94851	665	688	677	681	Mutagenesis	Note=In MICAL-2NLSMut%3B abolishes nuclear localization. KRRRK->AAAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24440334;Dbxref=PMID:24440334
O94851	665	688	687	687	Natural variant	ID=VAR_050156;Note=D->E;Dbxref=dbSNP:rs3794084
O94851	738	779	739	985	Alternative sequence	ID=VSP_042593;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:16675569;Dbxref=PMID:16675569
O94851	738	779	739	928	Alternative sequence	ID=VSP_042594;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:16675569;Dbxref=PMID:14702039,PMID:16675569
O94851	738	779	740	986	Alternative sequence	ID=VSP_009860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O94851	738	779	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2
O94851	928	949	739	985	Alternative sequence	ID=VSP_042593;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:16675569;Dbxref=PMID:16675569
O94851	928	949	739	928	Alternative sequence	ID=VSP_042594;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:16675569;Dbxref=PMID:14702039,PMID:16675569
O94851	928	949	740	986	Alternative sequence	ID=VSP_009860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O94851	928	949	929	949	Alternative sequence	ID=VSP_042595;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O94851	928	949	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2
O94851	949	985	739	985	Alternative sequence	ID=VSP_042593;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:16675569;Dbxref=PMID:16675569
O94851	949	985	740	986	Alternative sequence	ID=VSP_009860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O94851	949	985	929	949	Alternative sequence	ID=VSP_042595;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O94851	949	985	950	985	Alternative sequence	ID=VSP_042596;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:16675569;Dbxref=PMID:16675569
O94851	949	985	1	1124	Chain	ID=PRO_0000075844;Note=[F-actin]-monooxygenase MICAL2

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SNVs in the skipped exons for MICAL2

- 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
LIHC	TCGA-G3-A3CJ-01	exon_skip_57009 exon_skip_57013 exon_skip_57011	12277190	12277297	12277202	12277202	Frame_Shift_Del	A	-	p.K954fs
LIHC	TCGA-BC-A112-01	exon_skip_56987 exon_skip_56986	12260983	12261132	12261015	12261016	Frame_Shift_Ins	-	A	p.S700fs
ESCA	TCGA-L5-A4OE-01	exon_skip_56987 exon_skip_56986	12260983	12261132	12261023	12261024	Frame_Shift_Ins	-	TT	p.E702fs
ESCA	TCGA-L5-A4OE-01	exon_skip_56987 exon_skip_56986	12260983	12261132	12261023	12261024	Frame_Shift_Ins	-	TT	p.V702fs
LUAD	TCGA-44-2668-01	exon_skip_56980	12244164	12244290	12244189	12244189	Nonsense_Mutation	C	T	p.Q450*
SKCM	TCGA-FS-A1ZK-06	exon_skip_57007 exon_skip_56999 exon_skip_56998	12270731	12270793	12270730	12270730	Splice_Site	G	A	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-FS-A1ZK-06
	Cancer type: SKCM
	ESID: exon_skip_56998
	Skipped exon start: 12270731
	Skipped exon end: 12270793
	Mutation start: 12270730
	Mutation end: 12270730
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: .
exon_skip_56999_SKCM_TCGA-FS-A1ZK-06.png

- 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
HEC6_ENDOMETRIUM	12225797	12226004	12225861	12225861	Missense_Mutation	C	T	p.A110V
BICR18_UPPER_AERODIGESTIVE_TRACT	12225797	12226004	12225890	12225890	Missense_Mutation	T	A	p.S120T
EN_ENDOMETRIUM	12225797	12226004	12225918	12225918	Missense_Mutation	T	G	p.L129R
UACC812_BREAST	12231044	12231145	12231047	12231047	Missense_Mutation	T	C	p.I198T
OCUBM_BREAST	12231044	12231145	12231097	12231097	Missense_Mutation	G	C	p.E215Q
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12241748	12242005	12241898	12241898	Missense_Mutation	G	A	p.A367T
JHUEM7_ENDOMETRIUM	12241748	12242005	12241955	12241955	Missense_Mutation	C	T	p.R386W
LCLC97TM1_LUNG	12244164	12244290	12244178	12244178	Missense_Mutation	G	A	p.R446Q
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12257724	12257792	12257787	12257787	Missense_Mutation	G	C	p.D687H
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12260983	12261132	12260992	12260992	Missense_Mutation	T	G	p.F692V
LIM1215_LARGE_INTESTINE	12262587	12262709	12262632	12262632	Missense_Mutation	T	G	p.S754A
NCIH187_LUNG	12262587	12262709	12262633	12262633	Missense_Mutation	C	G	p.S754C
KM12_LARGE_INTESTINE	12262587	12262709	12262638	12262638	Missense_Mutation	C	T	p.P756S
CP67MEL_SKIN	12262587	12262709	12262678	12262678	Missense_Mutation	C	T	p.T769I
5637_URINARY_TRACT	12277190	12277297	12277286	12277286	Missense_Mutation	T	A	p.S982T
KPNYN_AUTONOMIC_GANGLIA	12284027	12284182	12284063	12284063	Missense_Mutation	G	T	p.G1124V
KPNYN_AUTONOMIC_GANGLIA	12284027	12284084	12284063	12284063	Missense_Mutation	G	T	p.G1124V
MDAMB134VI_BREAST	12244164	12244290	12244189	12244189	Nonsense_Mutation	C	T	p.Q450*
SNU1040_LARGE_INTESTINE	12260983	12261132	12261132	12261132	Splice_Site	G	T	p.Q738H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MICAL2

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

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MICAL2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MICAL2

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RelatedDrugs for MICAL2

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 MICAL2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	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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