ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ITSN1

Gene summary

Gene information	Gene symbol	ITSN1
	Gene ID	6453
	Gene name	intersectin 1
	Synonyms	ITSN\|SH3D1A\|SH3P17
	Cytomap	21q22.11
	Type of gene	protein-coding
	Description	intersectin-1SH3 domain-containing protein 1ASrc homology 3 domain-containing proteinhuman intersectin-SH3 domain-containing protein SH3P17intersectin 1 (SH3 domain protein)intersectin 1 short form variant 3intersectin 1 short form variant, 11inter
	Modification date	20180522
	UniProtAcc	Q15811
	Context	PubMed: ITSN1 [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 ITSN1 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 ITSN1

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 ITSN1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_359459	21	35014847:35015019:35061626:35061688:35088735:35088860	35061626:35061688	ENSG00000205726.9	ENST00000444491.1
exon_skip_359463	21	35014847:35015019:35061626:35061688:35091101:35091161	35061626:35061688	ENSG00000205726.9	ENST00000451686.1
exon_skip_359468	21	35014847:35015019:35091101:35091161:35093482:35093575	35091101:35091161	ENSG00000205726.9	ENST00000399349.1,ENST00000470742.1,ENST00000399367.3,ENST00000381291.4,ENST00000399355.2,ENST00000399352.1,ENST00000381285.4,ENST00000381318.3
exon_skip_359470	21	35061626:35061688:35088735:35088860:35091101:35091161	35088735:35088860	ENSG00000205726.9	ENST00000444491.1
exon_skip_359474	21	35093482:35093575:35094892:35094956:35107348:35107398	35094892:35094956	ENSG00000205726.9	ENST00000444491.1,ENST00000399349.1,ENST00000399338.4,ENST00000399367.3,ENST00000381291.4,ENST00000379960.5,ENST00000451686.1,ENST00000381283.3,ENST00000399326.3,ENST00000399355.2,ENST00000399352.1,ENST00000437442.2,ENST00000399353.1,ENST00000381285.4,ENS
exon_skip_359475	21	35107348:35107509:35122447:35122627:35124114:35124211	35122447:35122627	ENSG00000205726.9	ENST00000399349.1,ENST00000399338.4,ENST00000399367.3,ENST00000381291.4,ENST00000379960.5,ENST00000399326.3,ENST00000399355.2,ENST00000399352.1,ENST00000437442.2,ENST00000381285.4,ENST00000381318.3
exon_skip_359477	21	35107348:35107509:35122558:35122627:35124114:35124211	35122558:35122627	ENSG00000205726.9	ENST00000399353.1
exon_skip_359480	21	35124114:35124211:35127601:35127702:35134226:35134290	35127601:35127702	ENSG00000205726.9	ENST00000399349.1,ENST00000399338.4,ENST00000399367.3,ENST00000381291.4,ENST00000379960.5,ENST00000381283.3,ENST00000399326.3,ENST00000399355.2,ENST00000399352.1,ENST00000437442.2,ENST00000399353.1,ENST00000381285.4,ENST00000381318.3
exon_skip_359481	21	35127601:35127702:35129091:35129378:35134226:35134290	35129091:35129378	ENSG00000205726.9	ENST00000488166.1
exon_skip_359483	21	35138178:35138316:35140016:35140132:35144364:35144586	35140016:35140132	ENSG00000205726.9	ENST00000399349.1,ENST00000399338.4,ENST00000399367.3,ENST00000381291.4,ENST00000379960.5,ENST00000381283.3,ENST00000399326.3,ENST00000399355.2,ENST00000399352.1,ENST00000437442.2,ENST00000399353.1,ENST00000381285.4,ENST00000381318.3,ENST00000488166.1
exon_skip_359485	21	35147271:35147412:35153764:35153852:35154297:35154437	35153764:35153852	ENSG00000205726.9	ENST00000399349.1,ENST00000399338.4,ENST00000399367.3,ENST00000381291.4,ENST00000379960.5,ENST00000399326.3,ENST00000399355.2,ENST00000399352.1,ENST00000437442.2,ENST00000399353.1,ENST00000381285.4,ENST00000381318.3
exon_skip_359487	21	35172226:35172233:35174733:35174748:35183278:35183526	35174733:35174748	ENSG00000205726.9	ENST00000381291.4,ENST00000440794.1,ENST00000399355.2,ENST00000381318.3
exon_skip_359488	21	35172111:35172233:35174740:35174748:35183278:35183526	35174740:35174748	ENSG00000205726.9	ENST00000419241.1
exon_skip_359489	21	35172226:35172233:35183278:35183526:35186216:35186376	35183278:35183526	ENSG00000205726.9	ENST00000399349.1,ENST00000399338.4,ENST00000399367.3,ENST00000379960.5,ENST00000399326.3,ENST00000399352.1,ENST00000437442.2,ENST00000399353.1
exon_skip_359492	21	35186216:35186376:35190570:35190776:35191544:35191627	35190570:35190776	ENSG00000205726.9	ENST00000399349.1,ENST00000399367.3,ENST00000381291.4,ENST00000399326.3,ENST00000399355.2,ENST00000399352.1,ENST00000437442.2,ENST00000399353.1,ENST00000381285.4,ENST00000381318.3
exon_skip_359494	21	35191544:35191627:35195790:35195957:35199121:35199167	35195790:35195957	ENSG00000205726.9	ENST00000399367.3,ENST00000381291.4,ENST00000487427.1,ENST00000399352.1,ENST00000437442.2,ENST00000399353.1,ENST00000381285.4,ENST00000381318.3
exon_skip_359496	21	35191544:35191627:35199121:35199167:35201927:35201990	35199121:35199167	ENSG00000205726.9	ENST00000428240.1,ENST00000399326.3
exon_skip_359497	21	35191544:35191627:35201927:35202049:35206610:35206700	35201927:35202049	ENSG00000205726.9	ENST00000399349.1,ENST00000379960.5,ENST00000399355.2
exon_skip_359498	21	35195790:35195957:35199121:35199167:35201927:35201990	35199121:35199167	ENSG00000205726.9	ENST00000399367.3,ENST00000381291.4,ENST00000399352.1,ENST00000437442.2,ENST00000399353.1,ENST00000381285.4,ENST00000381318.3
exon_skip_359499	21	35199121:35199167:35201271:35201354:35201927:35201990	35201271:35201354	ENSG00000205726.9	ENST00000437126.1
exon_skip_359500	21	35229039:35229161:35230989:35231096:35237454:35237638	35230989:35231096	ENSG00000205726.9	ENST00000399367.3,ENST00000399326.3,ENST00000437442.2,ENST00000381285.4,ENST00000381318.3
exon_skip_359501	21	35239536:35239635:35247657:35247825:35254546:35254759	35247657:35247825	ENSG00000205726.9	ENST00000399367.3,ENST00000399326.3,ENST00000381285.4,ENST00000381318.3
exon_skip_359502	21	35247663:35247825:35254546:35254759:35255853:35255975	35254546:35254759	ENSG00000205726.9	ENST00000399367.3,ENST00000399326.3,ENST00000381285.4,ENST00000381318.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ITSN1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_359459	21	35014847:35015019:35061626:35061688:35088735:35088860	35061626:35061688	ENSG00000205726.9	ENST00000444491.1
exon_skip_359463	21	35014847:35015019:35061626:35061688:35091101:35091161	35061626:35061688	ENSG00000205726.9	ENST00000451686.1
exon_skip_359468	21	35014847:35015019:35091101:35091161:35093482:35093575	35091101:35091161	ENSG00000205726.9	ENST00000470742.1,ENST00000381318.3,ENST00000381291.4,ENST00000381285.4,ENST00000399367.3,ENST00000399352.1,ENST00000399355.2,ENST00000399349.1
exon_skip_359470	21	35061626:35061688:35088735:35088860:35091101:35091161	35088735:35088860	ENSG00000205726.9	ENST00000444491.1
exon_skip_359474	21	35093482:35093575:35094892:35094956:35107348:35107398	35094892:35094956	ENSG00000205726.9	ENST00000399353.1,ENST00000444491.1,ENST00000381318.3,ENST00000381291.4,ENST00000381285.4,ENST00000399367.3,ENST00000399352.1,ENST00000399355.2,ENST00000399349.1,ENST00000451686.1,ENST00000381283.3,ENST00000399338.4,ENST00000437442.2,ENST00000399326.3,ENS
exon_skip_359475	21	35107348:35107509:35122447:35122627:35124114:35124211	35122447:35122627	ENSG00000205726.9	ENST00000381318.3,ENST00000381291.4,ENST00000381285.4,ENST00000399367.3,ENST00000399352.1,ENST00000399355.2,ENST00000399349.1,ENST00000399338.4,ENST00000437442.2,ENST00000399326.3,ENST00000379960.5
exon_skip_359477	21	35107348:35107509:35122558:35122627:35124114:35124211	35122558:35122627	ENSG00000205726.9	ENST00000399353.1
exon_skip_359480	21	35124114:35124211:35127601:35127702:35134226:35134290	35127601:35127702	ENSG00000205726.9	ENST00000399353.1,ENST00000381318.3,ENST00000381291.4,ENST00000381285.4,ENST00000399367.3,ENST00000399352.1,ENST00000399355.2,ENST00000399349.1,ENST00000381283.3,ENST00000399338.4,ENST00000437442.2,ENST00000399326.3,ENST00000379960.5
exon_skip_359483	21	35138178:35138316:35140016:35140132:35144364:35144586	35140016:35140132	ENSG00000205726.9	ENST00000399353.1,ENST00000381318.3,ENST00000381291.4,ENST00000381285.4,ENST00000399367.3,ENST00000399352.1,ENST00000399355.2,ENST00000399349.1,ENST00000381283.3,ENST00000399338.4,ENST00000437442.2,ENST00000399326.3,ENST00000379960.5,ENST00000488166.1
exon_skip_359485	21	35147271:35147412:35153764:35153852:35154297:35154437	35153764:35153852	ENSG00000205726.9	ENST00000399353.1,ENST00000381318.3,ENST00000381291.4,ENST00000381285.4,ENST00000399367.3,ENST00000399352.1,ENST00000399355.2,ENST00000399349.1,ENST00000399338.4,ENST00000437442.2,ENST00000399326.3,ENST00000379960.5
exon_skip_359487	21	35172226:35172233:35174733:35174748:35183278:35183526	35174733:35174748	ENSG00000205726.9	ENST00000381318.3,ENST00000381291.4,ENST00000399355.2,ENST00000440794.1
exon_skip_359488	21	35172111:35172233:35174740:35174748:35183278:35183526	35174740:35174748	ENSG00000205726.9	ENST00000419241.1
exon_skip_359489	21	35172226:35172233:35183278:35183526:35186216:35186376	35183278:35183526	ENSG00000205726.9	ENST00000399353.1,ENST00000399367.3,ENST00000399352.1,ENST00000399349.1,ENST00000399338.4,ENST00000437442.2,ENST00000399326.3,ENST00000379960.5
exon_skip_359492	21	35186216:35186376:35190570:35190776:35191544:35191627	35190570:35190776	ENSG00000205726.9	ENST00000399353.1,ENST00000381318.3,ENST00000381291.4,ENST00000381285.4,ENST00000399367.3,ENST00000399352.1,ENST00000399355.2,ENST00000399349.1,ENST00000437442.2,ENST00000399326.3
exon_skip_359494	21	35191544:35191627:35195790:35195957:35199121:35199167	35195790:35195957	ENSG00000205726.9	ENST00000399353.1,ENST00000381318.3,ENST00000381291.4,ENST00000381285.4,ENST00000399367.3,ENST00000399352.1,ENST00000437442.2,ENST00000487427.1
exon_skip_359496	21	35191544:35191627:35199121:35199167:35201927:35201990	35199121:35199167	ENSG00000205726.9	ENST00000399326.3,ENST00000428240.1
exon_skip_359497	21	35191544:35191627:35201927:35202049:35206610:35206700	35201927:35202049	ENSG00000205726.9	ENST00000399355.2,ENST00000399349.1,ENST00000379960.5
exon_skip_359498	21	35195790:35195957:35199121:35199167:35201927:35201990	35199121:35199167	ENSG00000205726.9	ENST00000399353.1,ENST00000381318.3,ENST00000381291.4,ENST00000381285.4,ENST00000399367.3,ENST00000399352.1,ENST00000437442.2
exon_skip_359499	21	35199121:35199167:35201271:35201354:35201927:35201990	35201271:35201354	ENSG00000205726.9	ENST00000437126.1
exon_skip_359500	21	35229039:35229161:35230989:35231096:35237454:35237638	35230989:35231096	ENSG00000205726.9	ENST00000381318.3,ENST00000381285.4,ENST00000399367.3,ENST00000437442.2,ENST00000399326.3
exon_skip_359501	21	35239536:35239635:35247657:35247825:35254546:35254759	35247657:35247825	ENSG00000205726.9	ENST00000381318.3,ENST00000381285.4,ENST00000399367.3,ENST00000399326.3

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 ITSN1

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
ENST00000381318	35091101	35091161	5CDS-5UTR
ENST00000381318	35094892	35094956	Frame-shift
ENST00000381318	35127601	35127702	Frame-shift
ENST00000381318	35140016	35140132	Frame-shift
ENST00000381318	35153764	35153852	Frame-shift
ENST00000381318	35190570	35190776	Frame-shift
ENST00000381318	35195790	35195957	Frame-shift
ENST00000381318	35199121	35199167	Frame-shift
ENST00000381318	35230989	35231096	Frame-shift
ENST00000381318	35122447	35122627	In-frame
ENST00000381318	35174733	35174748	In-frame
ENST00000381318	35247657	35247825	In-frame
ENST00000381318	35254546	35254759	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
ENST00000381318	35091101	35091161	5CDS-5UTR
ENST00000381318	35094892	35094956	Frame-shift
ENST00000381318	35127601	35127702	Frame-shift
ENST00000381318	35140016	35140132	Frame-shift
ENST00000381318	35153764	35153852	Frame-shift
ENST00000381318	35190570	35190776	Frame-shift
ENST00000381318	35195790	35195957	Frame-shift
ENST00000381318	35199121	35199167	Frame-shift
ENST00000381318	35230989	35231096	Frame-shift
ENST00000381318	35122447	35122627	In-frame
ENST00000381318	35174733	35174748	In-frame
ENST00000381318	35247657	35247825	In-frame

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Infer the effects of exon skipping event on protein functional features for ITSN1

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
ENST00000381318	17032	1721	35122447	35122627	635	814	115	175
ENST00000381318	17032	1721	35247657	35247825	4462	4629	1391	1447
ENST00000381318	17032	1721	35254546	35254759	4630	4842	1447	1518

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
ENST00000381318	17032	1721	35122447	35122627	635	814	115	175
ENST00000381318	17032	1721	35247657	35247825	4462	4629	1391	1447

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

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

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SNVs in the skipped exons for ITSN1

- 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.

ITSN1_GBM_exon_skip_359487_psi_boxplot.png
boxplot

ITSN1_GBM_exon_skip_359488_psi_boxplot.png
boxplot

ITSN1_LIHC_exon_skip_359489_psi_boxplot.png
boxplot

ITSN1_PRAD_exon_skip_359494_psi_boxplot.png
boxplot

- 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-HT-7854-01	exon_skip_359474	35094893	35094956	35094910	35094910	Frame_Shift_Del	T	-	p.F49fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_359475	35122448	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.P157fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_359477	35122559	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.P157fs
PRAD	TCGA-KK-A59V-01	exon_skip_359475	35122448	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.P157fs
PRAD	TCGA-KK-A59V-01	exon_skip_359475	35122448	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.V155fs
PRAD	TCGA-KK-A59V-01	exon_skip_359477	35122559	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.P157fs
PRAD	TCGA-KK-A59V-01	exon_skip_359477	35122559	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.V155fs
LIHC	TCGA-DD-A1EG-01	exon_skip_359475	35122448	35122627	35122588	35122588	Frame_Shift_Del	C	-	p.P164fs
LIHC	TCGA-DD-A1EG-01	exon_skip_359477	35122559	35122627	35122588	35122588	Frame_Shift_Del	C	-	p.P164fs
LIHC	TCGA-DD-A1EG-01	exon_skip_359485	35153765	35153852	35153799	35153799	Frame_Shift_Del	A	-	p.E544fs
UCEC	TCGA-D1-A177-01	exon_skip_359489	35183279	35183526	35183292	35183292	Frame_Shift_Del	A	-	p.Q778fs
UCEC	TCGA-D1-A177-01	exon_skip_359489	35183279	35183526	35183292	35183292	Frame_Shift_Del	A	-	p.T779fs
LIHC	TCGA-DD-A1EG-01	exon_skip_359489	35183279	35183526	35183366	35183366	Frame_Shift_Del	A	-	p.K803fs
LIHC	TCGA-DD-A3A0-01	exon_skip_359489	35183279	35183526	35183376	35183376	Frame_Shift_Del	A	-	p.E806fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_359489	35183279	35183526	35183430	35183430	Frame_Shift_Del	C	-	p.A824fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_359494	35195791	35195957	35195850	35195850	Frame_Shift_Del	G	-	p.G1026fs
LIHC	TCGA-DD-A39Y-01	exon_skip_359494	35195791	35195957	35195864	35195864	Frame_Shift_Del	G	-	p.L1030fs
PRAD	TCGA-EJ-5525-01	exon_skip_359494	35195791	35195957	35195922	35195922	Frame_Shift_Del	T	-	p.F1050fs
PRAD	TCGA-EJ-5525-01	exon_skip_359494	35195791	35195957	35195922	35195922	Frame_Shift_Del	T	-	p.V1049fs
SKCM	TCGA-GN-A4U5-01	exon_skip_359502	35254547	35254759	35254658	35254658	Frame_Shift_Del	G	-	p.D1485fs
KIRC	TCGA-BP-5183-01	exon_skip_359502	35254547	35254759	35254745	35254745	Frame_Shift_Del	A	-	p.K1514fs
KIRC	TCGA-BP-5183-01	exon_skip_359502	35254547	35254759	35254745	35254745	Frame_Shift_Del	A	-	p.Y1513X
COAD	TCGA-AZ-4615-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
COAD	TCGA-AZ-4615-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
COAD	TCGA-D5-6930-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
COAD	TCGA-D5-6930-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
KIRC	TCGA-A3-3313-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
KIRC	TCGA-A3-3313-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
KIRC	TCGA-A3-3319-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
KIRC	TCGA-A3-3319-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
KIRC	TCGA-A3-3320-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
KIRC	TCGA-A3-3320-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
LUAD	TCGA-44-2656-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
LUAD	TCGA-44-2656-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
LUAD	TCGA-44-2665-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
LUAD	TCGA-44-2665-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
LUAD	TCGA-44-2668-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
LUAD	TCGA-44-2668-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
LUAD	TCGA-55-1596-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
LUAD	TCGA-55-1596-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
LUAD	TCGA-67-3770-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
LUAD	TCGA-67-3770-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
LUAD	TCGA-67-3771-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
LUAD	TCGA-67-3771-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.VP155fs
STAD	TCGA-HU-A4GX-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
STAD	TCGA-HU-A4GX-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
UCEC	TCGA-B5-A0K2-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
UCEC	TCGA-B5-A0K2-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
UCEC	TCGA-B5-A0K7-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
UCEC	TCGA-B5-A0K7-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
UCEC	TCGA-BG-A0M9-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
UCEC	TCGA-BG-A0M9-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
UCEC	TCGA-BS-A0TA-01	exon_skip_359475	35122448	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
UCEC	TCGA-BS-A0TA-01	exon_skip_359477	35122559	35122627	35122566	35122567	Frame_Shift_Ins	-	C	p.V155fs
STAD	TCGA-HU-A4GX-01	exon_skip_359475	35122448	35122627	35122567	35122568	Frame_Shift_Ins	-	C	p.V155fs
STAD	TCGA-HU-A4GX-01	exon_skip_359477	35122559	35122627	35122567	35122568	Frame_Shift_Ins	-	C	p.V155fs
STAD	TCGA-D7-A4YY-01	exon_skip_359487 exon_skip_359488	35174734	35174748	35174739	35174740	Frame_Shift_Ins	-	G	p.K770fs
STAD	TCGA-D7-A4YY-01	exon_skip_359487 exon_skip_359488	35174734	35174748	35174740	35174741	Frame_Shift_Ins	-	G	p.K770fs
STAD	TCGA-D7-A4YY-01	exon_skip_359487 exon_skip_359488	35174741	35174748	35174740	35174741	Frame_Shift_Ins	-	G	p.K770fs
COAD	TCGA-AZ-4315-01	exon_skip_359483	35140017	35140132	35140024	35140024	Nonsense_Mutation	C	T	p.R312X
READ	TCGA-AG-A002-01	exon_skip_359483	35140017	35140132	35140024	35140024	Nonsense_Mutation	C	T	p.R312X
SKCM	TCGA-D3-A3ML-06	exon_skip_359483	35140017	35140132	35140024	35140024	Nonsense_Mutation	C	T	p.R312*
SKCM	TCGA-D3-A3ML-06	exon_skip_359483	35140017	35140132	35140024	35140024	Nonsense_Mutation	C	T	p.R312X
SKCM	TCGA-Z2-A8RT-06	exon_skip_359483	35140017	35140132	35140024	35140024	Nonsense_Mutation	C	T	p.R312*
GBM	TCGA-06-0211-02	exon_skip_359487 exon_skip_359488	35174734	35174748	35174748	35174748	Nonsense_Mutation	G	A	p.W773_splice
GBM	TCGA-06-0211-02	exon_skip_359487 exon_skip_359488	35174741	35174748	35174748	35174748	Nonsense_Mutation	G	A	p.W773_splice
BLCA	TCGA-G2-A2EO-01	exon_skip_359489	35183279	35183526	35183344	35183344	Nonsense_Mutation	G	A	p.W795*
STAD	TCGA-BR-8487-01	exon_skip_359494	35195791	35195957	35195847	35195847	Nonsense_Mutation	C	T	p.Q1025*
STAD	TCGA-BR-8487-01	exon_skip_359494	35195791	35195957	35195847	35195847	Nonsense_Mutation	C	T	p.Q1025X
LUAD	TCGA-05-4382-01	exon_skip_359496 exon_skip_359498	35199122	35199167	35199148	35199148	Nonsense_Mutation	G	T	p.E1010*
SKCM	TCGA-YG-AA3N-01	exon_skip_359501	35247658	35247825	35247788	35247788	Nonsense_Mutation	G	A	p.W1435*
SKCM	TCGA-QB-AA9O-06	exon_skip_359501	35247658	35247825	35247793	35247793	Nonsense_Mutation	C	T	p.Q1437*
LUSC	TCGA-33-4547-01	exon_skip_359480	35127602	35127702	35127600	35127600	Splice_Site	A	T	p.S208_splice
STAD	TCGA-BR-8680-01	exon_skip_359480	35127602	35127702	35127704	35127704	Splice_Site	T	C	.
STAD	TCGA-BR-8680-01	exon_skip_359480	35127602	35127702	35127704	35127704	Splice_Site	T	C	p.G242_splice
LIHC	TCGA-ES-A2HT-01	exon_skip_359483	35140017	35140132	35140133	35140133	Splice_Site	G	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-05-4382-01
	Cancer type: LUAD
	ESID: exon_skip_359498
	Skipped exon start: 35199122
	Skipped exon end: 35199167
	Mutation start: 35199148
	Mutation end: 35199148
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E1010*
exon_skip_129994_LUAD_TCGA-05-4382-01.png
exon_skip_129996_LUAD_TCGA-05-4382-01.png
exon_skip_146150_LUAD_TCGA-05-4382-01.png
exon_skip_19523_LUAD_TCGA-05-4382-01.png
exon_skip_327136_LUAD_TCGA-05-4382-01.png
exon_skip_331845_LUAD_TCGA-05-4382-01.png
exon_skip_347552_LUAD_TCGA-05-4382-01.png
exon_skip_347557_LUAD_TCGA-05-4382-01.png
exon_skip_359496_LUAD_TCGA-05-4382-01.png
exon_skip_367842_LUAD_TCGA-05-4382-01.png
exon_skip_367844_LUAD_TCGA-05-4382-01.png
exon_skip_425876_LUAD_TCGA-05-4382-01.png
exon_skip_434000_LUAD_TCGA-05-4382-01.png
exon_skip_448593_LUAD_TCGA-05-4382-01.png
exon_skip_91823_LUAD_TCGA-05-4382-01.png
	Sample: TCGA-BR-8487-01
	Cancer type: STAD
	ESID: exon_skip_359494
	Skipped exon start: 35195791
	Skipped exon end: 35195957
	Mutation start: 35195847
	Mutation end: 35195847
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q1025X
	Sample: TCGA-BR-8487-01
	Cancer type: STAD
	ESID: exon_skip_359494
	Skipped exon start: 35195791
	Skipped exon end: 35195957
	Mutation start: 35195847
	Mutation end: 35195847
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q1025*
exon_skip_110606_STAD_TCGA-BR-8487-01.png
exon_skip_13071_STAD_TCGA-BR-8487-01.png
exon_skip_311841_STAD_TCGA-BR-8487-01.png
exon_skip_313312_STAD_TCGA-BR-8487-01.png
exon_skip_313316_STAD_TCGA-BR-8487-01.png
exon_skip_313367_STAD_TCGA-BR-8487-01.png
exon_skip_325448_STAD_TCGA-BR-8487-01.png
exon_skip_33313_STAD_TCGA-BR-8487-01.png
exon_skip_359494_STAD_TCGA-BR-8487-01.png
exon_skip_430601_STAD_TCGA-BR-8487-01.png
exon_skip_430604_STAD_TCGA-BR-8487-01.png
exon_skip_430616_STAD_TCGA-BR-8487-01.png
exon_skip_440411_STAD_TCGA-BR-8487-01.png
exon_skip_440412_STAD_TCGA-BR-8487-01.png
exon_skip_458582_STAD_TCGA-BR-8487-01.png
exon_skip_468869_STAD_TCGA-BR-8487-01.png
exon_skip_475355_STAD_TCGA-BR-8487-01.png
exon_skip_495683_STAD_TCGA-BR-8487-01.png
exon_skip_503611_STAD_TCGA-BR-8487-01.png
exon_skip_56463_STAD_TCGA-BR-8487-01.png
exon_skip_68768_STAD_TCGA-BR-8487-01.png
exon_skip_84502_STAD_TCGA-BR-8487-01.png
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_359475
	Skipped exon start: 35122448
	Skipped exon end: 35122627
	Mutation start: 35122588
	Mutation end: 35122588
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.P164fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_359477
	Skipped exon start: 35122559
	Skipped exon end: 35122627
	Mutation start: 35122588
	Mutation end: 35122588
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.P164fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_359485
	Skipped exon start: 35153765
	Skipped exon end: 35153852
	Mutation start: 35153799
	Mutation end: 35153799
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.E544fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_359489
	Skipped exon start: 35183279
	Skipped exon end: 35183526
	Mutation start: 35183366
	Mutation end: 35183366
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.K803fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png
exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png
exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png
exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png
exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png
exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png
exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png
exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png
exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png
exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png
exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png
exon_skip_130099_LIHC_TCGA-DD-A1EG-01.png
exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png
exon_skip_131505_LIHC_TCGA-DD-A1EG-01.png
exon_skip_131697_LIHC_TCGA-DD-A1EG-01.png
exon_skip_133542_LIHC_TCGA-DD-A1EG-01.png
exon_skip_133548_LIHC_TCGA-DD-A1EG-01.png
exon_skip_134792_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135418_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135741_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135820_LIHC_TCGA-DD-A1EG-01.png
exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png
exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png
exon_skip_138373_LIHC_TCGA-DD-A1EG-01.png
exon_skip_138947_LIHC_TCGA-DD-A1EG-01.png
exon_skip_140996_LIHC_TCGA-DD-A1EG-01.png
exon_skip_141914_LIHC_TCGA-DD-A1EG-01.png
exon_skip_143553_LIHC_TCGA-DD-A1EG-01.png
exon_skip_143841_LIHC_TCGA-DD-A1EG-01.png
exon_skip_143843_LIHC_TCGA-DD-A1EG-01.png
exon_skip_144075_LIHC_TCGA-DD-A1EG-01.png
exon_skip_144116_LIHC_TCGA-DD-A1EG-01.png
exon_skip_144125_LIHC_TCGA-DD-A1EG-01.png
exon_skip_146762_LIHC_TCGA-DD-A1EG-01.png
exon_skip_146776_LIHC_TCGA-DD-A1EG-01.png
exon_skip_146807_LIHC_TCGA-DD-A1EG-01.png
exon_skip_14772_LIHC_TCGA-DD-A1EG-01.png
exon_skip_148738_LIHC_TCGA-DD-A1EG-01.png
exon_skip_148740_LIHC_TCGA-DD-A1EG-01.png
exon_skip_14897_LIHC_TCGA-DD-A1EG-01.png
exon_skip_14899_LIHC_TCGA-DD-A1EG-01.png
exon_skip_15042_LIHC_TCGA-DD-A1EG-01.png
exon_skip_150985_LIHC_TCGA-DD-A1EG-01.png
exon_skip_153494_LIHC_TCGA-DD-A1EG-01.png
exon_skip_155021_LIHC_TCGA-DD-A1EG-01.png
exon_skip_16928_LIHC_TCGA-DD-A1EG-01.png
exon_skip_17317_LIHC_TCGA-DD-A1EG-01.png
exon_skip_17318_LIHC_TCGA-DD-A1EG-01.png
exon_skip_17943_LIHC_TCGA-DD-A1EG-01.png
exon_skip_18708_LIHC_TCGA-DD-A1EG-01.png
exon_skip_19048_LIHC_TCGA-DD-A1EG-01.png
exon_skip_1906_LIHC_TCGA-DD-A1EG-01.png
exon_skip_19372_LIHC_TCGA-DD-A1EG-01.png
exon_skip_19902_LIHC_TCGA-DD-A1EG-01.png
exon_skip_20061_LIHC_TCGA-DD-A1EG-01.png
exon_skip_22876_LIHC_TCGA-DD-A1EG-01.png
exon_skip_2523_LIHC_TCGA-DD-A1EG-01.png
exon_skip_26461_LIHC_TCGA-DD-A1EG-01.png
exon_skip_27038_LIHC_TCGA-DD-A1EG-01.png
exon_skip_27065_LIHC_TCGA-DD-A1EG-01.png
exon_skip_283878_LIHC_TCGA-DD-A1EG-01.png
exon_skip_284109_LIHC_TCGA-DD-A1EG-01.png
exon_skip_288112_LIHC_TCGA-DD-A1EG-01.png
exon_skip_290222_LIHC_TCGA-DD-A1EG-01.png
exon_skip_290223_LIHC_TCGA-DD-A1EG-01.png
exon_skip_29032_LIHC_TCGA-DD-A1EG-01.png
exon_skip_290_LIHC_TCGA-DD-A1EG-01.png
exon_skip_291361_LIHC_TCGA-DD-A1EG-01.png
exon_skip_291973_LIHC_TCGA-DD-A1EG-01.png
exon_skip_29487_LIHC_TCGA-DD-A1EG-01.png
exon_skip_295443_LIHC_TCGA-DD-A1EG-01.png
exon_skip_297892_LIHC_TCGA-DD-A1EG-01.png
exon_skip_299242_LIHC_TCGA-DD-A1EG-01.png
exon_skip_30164_LIHC_TCGA-DD-A1EG-01.png
exon_skip_30165_LIHC_TCGA-DD-A1EG-01.png
exon_skip_302094_LIHC_TCGA-DD-A1EG-01.png
exon_skip_302095_LIHC_TCGA-DD-A1EG-01.png
exon_skip_302097_LIHC_TCGA-DD-A1EG-01.png
exon_skip_302181_LIHC_TCGA-DD-A1EG-01.png
exon_skip_305812_LIHC_TCGA-DD-A1EG-01.png
exon_skip_305815_LIHC_TCGA-DD-A1EG-01.png
exon_skip_3064_LIHC_TCGA-DD-A1EG-01.png
exon_skip_307291_LIHC_TCGA-DD-A1EG-01.png
exon_skip_307292_LIHC_TCGA-DD-A1EG-01.png
exon_skip_30744_LIHC_TCGA-DD-A1EG-01.png
exon_skip_307494_LIHC_TCGA-DD-A1EG-01.png
exon_skip_307495_LIHC_TCGA-DD-A1EG-01.png
exon_skip_30789_LIHC_TCGA-DD-A1EG-01.png
exon_skip_30792_LIHC_TCGA-DD-A1EG-01.png
exon_skip_308209_LIHC_TCGA-DD-A1EG-01.png
exon_skip_308211_LIHC_TCGA-DD-A1EG-01.png
exon_skip_308911_LIHC_TCGA-DD-A1EG-01.png
exon_skip_309060_LIHC_TCGA-DD-A1EG-01.png
exon_skip_309486_LIHC_TCGA-DD-A1EG-01.png
exon_skip_309505_LIHC_TCGA-DD-A1EG-01.png
exon_skip_309539_LIHC_TCGA-DD-A1EG-01.png
exon_skip_311823_LIHC_TCGA-DD-A1EG-01.png
exon_skip_311841_LIHC_TCGA-DD-A1EG-01.png
exon_skip_312748_LIHC_TCGA-DD-A1EG-01.png
exon_skip_315763_LIHC_TCGA-DD-A1EG-01.png
exon_skip_315773_LIHC_TCGA-DD-A1EG-01.png
exon_skip_316803_LIHC_TCGA-DD-A1EG-01.png
exon_skip_31766_LIHC_TCGA-DD-A1EG-01.png
exon_skip_318224_LIHC_TCGA-DD-A1EG-01.png
exon_skip_318551_LIHC_TCGA-DD-A1EG-01.png
exon_skip_318554_LIHC_TCGA-DD-A1EG-01.png
exon_skip_318555_LIHC_TCGA-DD-A1EG-01.png
exon_skip_319623_LIHC_TCGA-DD-A1EG-01.png
exon_skip_319638_LIHC_TCGA-DD-A1EG-01.png
exon_skip_32002_LIHC_TCGA-DD-A1EG-01.png
exon_skip_320793_LIHC_TCGA-DD-A1EG-01.png
exon_skip_320801LIHC_TCGA-DD-A1EG-01.png
exon_skip_320805_LIHC_TCGA-DD-A1EG-01.png
exon_skip_320820_LIHC_TCGA-DD-A1EG-01.png
exon_skip_320893_LIHC_TCGA-DD-A1EG-01.png
exon_skip_323233_LIHC_TCGA-DD-A1EG-01.png
exon_skip_324148_LIHC_TCGA-DD-A1EG-01.png
exon_skip_325050_LIHC_TCGA-DD-A1EG-01.png
exon_skip_325907_LIHC_TCGA-DD-A1EG-01.png
exon_skip_325909_LIHC_TCGA-DD-A1EG-01.png
exon_skip_326432_LIHC_TCGA-DD-A1EG-01.png
exon_skip_329221_LIHC_TCGA-DD-A1EG-01.png
exon_skip_329666_LIHC_TCGA-DD-A1EG-01.png
exon_skip_330008_LIHC_TCGA-DD-A1EG-01.png
exon_skip_331787_LIHC_TCGA-DD-A1EG-01.png
exon_skip_33329_LIHC_TCGA-DD-A1EG-01.png
exon_skip_33532_LIHC_TCGA-DD-A1EG-01.png
exon_skip_335990_LIHC_TCGA-DD-A1EG-01.png
exon_skip_33963_LIHC_TCGA-DD-A1EG-01.png
exon_skip_340419_LIHC_TCGA-DD-A1EG-01.png
exon_skip_340619_LIHC_TCGA-DD-A1EG-01.png
exon_skip_34100_LIHC_TCGA-DD-A1EG-01.png
exon_skip_34102_LIHC_TCGA-DD-A1EG-01.png
exon_skip_343034_LIHC_TCGA-DD-A1EG-01.png
exon_skip_343146_LIHC_TCGA-DD-A1EG-01.png
exon_skip_344918_LIHC_TCGA-DD-A1EG-01.png
exon_skip_346537_LIHC_TCGA-DD-A1EG-01.png
exon_skip_346953_LIHC_TCGA-DD-A1EG-01.png
exon_skip_347402_LIHC_TCGA-DD-A1EG-01.png
exon_skip_348700_LIHC_TCGA-DD-A1EG-01.png
exon_skip_349878_LIHC_TCGA-DD-A1EG-01.png
exon_skip_350522_LIHC_TCGA-DD-A1EG-01.png
exon_skip_350768_LIHC_TCGA-DD-A1EG-01.png
exon_skip_350771_LIHC_TCGA-DD-A1EG-01.png
exon_skip_352623_LIHC_TCGA-DD-A1EG-01.png
exon_skip_352668_LIHC_TCGA-DD-A1EG-01.png
exon_skip_354857_LIHC_TCGA-DD-A1EG-01.png
exon_skip_356483_LIHC_TCGA-DD-A1EG-01.png
exon_skip_357567_LIHC_TCGA-DD-A1EG-01.png
exon_skip_357575_LIHC_TCGA-DD-A1EG-01.png
exon_skip_357579_LIHC_TCGA-DD-A1EG-01.png
exon_skip_358435_LIHC_TCGA-DD-A1EG-01.png
exon_skip_359435_LIHC_TCGA-DD-A1EG-01.png
exon_skip_359489_LIHC_TCGA-DD-A1EG-01.png
exon_skip_361242_LIHC_TCGA-DD-A1EG-01.png
exon_skip_363472_LIHC_TCGA-DD-A1EG-01.png
exon_skip_364099_LIHC_TCGA-DD-A1EG-01.png
exon_skip_364103_LIHC_TCGA-DD-A1EG-01.png
exon_skip_364697_LIHC_TCGA-DD-A1EG-01.png
exon_skip_364943_LIHC_TCGA-DD-A1EG-01.png
exon_skip_368204_LIHC_TCGA-DD-A1EG-01.png
exon_skip_371454_LIHC_TCGA-DD-A1EG-01.png
exon_skip_371456_LIHC_TCGA-DD-A1EG-01.png
exon_skip_373849_LIHC_TCGA-DD-A1EG-01.png
exon_skip_37497_LIHC_TCGA-DD-A1EG-01.png
exon_skip_375393_LIHC_TCGA-DD-A1EG-01.png
exon_skip_376191_LIHC_TCGA-DD-A1EG-01.png
exon_skip_376308_LIHC_TCGA-DD-A1EG-01.png
exon_skip_376316_LIHC_TCGA-DD-A1EG-01.png
exon_skip_377238_LIHC_TCGA-DD-A1EG-01.png
exon_skip_378935_LIHC_TCGA-DD-A1EG-01.png
exon_skip_379213_LIHC_TCGA-DD-A1EG-01.png
exon_skip_380574_LIHC_TCGA-DD-A1EG-01.png
exon_skip_380826_LIHC_TCGA-DD-A1EG-01.png
exon_skip_380829_LIHC_TCGA-DD-A1EG-01.png
exon_skip_381100_LIHC_TCGA-DD-A1EG-01.png
exon_skip_382085_LIHC_TCGA-DD-A1EG-01.png
exon_skip_382430_LIHC_TCGA-DD-A1EG-01.png
exon_skip_383797_LIHC_TCGA-DD-A1EG-01.png
exon_skip_384120_LIHC_TCGA-DD-A1EG-01.png
exon_skip_384513_LIHC_TCGA-DD-A1EG-01.png
exon_skip_384562_LIHC_TCGA-DD-A1EG-01.png
exon_skip_385178_LIHC_TCGA-DD-A1EG-01.png
exon_skip_385335_LIHC_TCGA-DD-A1EG-01.png
exon_skip_386274_LIHC_TCGA-DD-A1EG-01.png
exon_skip_386965_LIHC_TCGA-DD-A1EG-01.png
exon_skip_387419_LIHC_TCGA-DD-A1EG-01.png
exon_skip_38855_LIHC_TCGA-DD-A1EG-01.png
exon_skip_390081_LIHC_TCGA-DD-A1EG-01.png
exon_skip_3924_LIHC_TCGA-DD-A1EG-01.png
exon_skip_40143_LIHC_TCGA-DD-A1EG-01.png
exon_skip_421134_LIHC_TCGA-DD-A1EG-01.png
exon_skip_421552_LIHC_TCGA-DD-A1EG-01.png
exon_skip_422397_LIHC_TCGA-DD-A1EG-01.png
exon_skip_422548_LIHC_TCGA-DD-A1EG-01.png
exon_skip_423021_LIHC_TCGA-DD-A1EG-01.png
exon_skip_426236_LIHC_TCGA-DD-A1EG-01.png
exon_skip_426699_LIHC_TCGA-DD-A1EG-01.png
exon_skip_427391_LIHC_TCGA-DD-A1EG-01.png
exon_skip_427930_LIHC_TCGA-DD-A1EG-01.png
exon_skip_429469_LIHC_TCGA-DD-A1EG-01.png
exon_skip_430601_LIHC_TCGA-DD-A1EG-01.png
exon_skip_430604_LIHC_TCGA-DD-A1EG-01.png
exon_skip_430616_LIHC_TCGA-DD-A1EG-01.png
exon_skip_431557_LIHC_TCGA-DD-A1EG-01.png
exon_skip_433436_LIHC_TCGA-DD-A1EG-01.png
exon_skip_433459_LIHC_TCGA-DD-A1EG-01.png
exon_skip_434665_LIHC_TCGA-DD-A1EG-01.png
exon_skip_435300_LIHC_TCGA-DD-A1EG-01.png
exon_skip_435301_LIHC_TCGA-DD-A1EG-01.png
exon_skip_435931_LIHC_TCGA-DD-A1EG-01.png
exon_skip_436646_LIHC_TCGA-DD-A1EG-01.png
exon_skip_436987_LIHC_TCGA-DD-A1EG-01.png
exon_skip_438105_LIHC_TCGA-DD-A1EG-01.png
exon_skip_438770_LIHC_TCGA-DD-A1EG-01.png
exon_skip_43999_LIHC_TCGA-DD-A1EG-01.png
exon_skip_440168_LIHC_TCGA-DD-A1EG-01.png
exon_skip_440170_LIHC_TCGA-DD-A1EG-01.png
exon_skip_441705_LIHC_TCGA-DD-A1EG-01.png
exon_skip_443104_LIHC_TCGA-DD-A1EG-01.png
exon_skip_443977_LIHC_TCGA-DD-A1EG-01.png
exon_skip_443978_LIHC_TCGA-DD-A1EG-01.png
exon_skip_444190_LIHC_TCGA-DD-A1EG-01.png
exon_skip_444765_LIHC_TCGA-DD-A1EG-01.png
exon_skip_445559_LIHC_TCGA-DD-A1EG-01.png
exon_skip_446492_LIHC_TCGA-DD-A1EG-01.png
exon_skip_446495_LIHC_TCGA-DD-A1EG-01.png
exon_skip_449536_LIHC_TCGA-DD-A1EG-01.png
exon_skip_449592_LIHC_TCGA-DD-A1EG-01.png
exon_skip_4499_LIHC_TCGA-DD-A1EG-01.png
exon_skip_450058_LIHC_TCGA-DD-A1EG-01.png
exon_skip_450540_LIHC_TCGA-DD-A1EG-01.png
exon_skip_451867_LIHC_TCGA-DD-A1EG-01.png
exon_skip_456736_LIHC_TCGA-DD-A1EG-01.png
exon_skip_457729_LIHC_TCGA-DD-A1EG-01.png
exon_skip_457730_LIHC_TCGA-DD-A1EG-01.png
exon_skip_457842_LIHC_TCGA-DD-A1EG-01.png
exon_skip_459148_LIHC_TCGA-DD-A1EG-01.png
exon_skip_462138_LIHC_TCGA-DD-A1EG-01.png
exon_skip_466984_LIHC_TCGA-DD-A1EG-01.png
exon_skip_467199_LIHC_TCGA-DD-A1EG-01.png
exon_skip_467371_LIHC_TCGA-DD-A1EG-01.png
exon_skip_467372_LIHC_TCGA-DD-A1EG-01.png
exon_skip_46817_LIHC_TCGA-DD-A1EG-01.png
exon_skip_471387_LIHC_TCGA-DD-A1EG-01.png
exon_skip_471458_LIHC_TCGA-DD-A1EG-01.png
exon_skip_472013_LIHC_TCGA-DD-A1EG-01.png
exon_skip_472955_LIHC_TCGA-DD-A1EG-01.png
exon_skip_473416_LIHC_TCGA-DD-A1EG-01.png
exon_skip_475734_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476238_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476392_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476535_LIHC_TCGA-DD-A1EG-01.png
exon_skip_478361_LIHC_TCGA-DD-A1EG-01.png
exon_skip_47845_LIHC_TCGA-DD-A1EG-01.png
exon_skip_483792_LIHC_TCGA-DD-A1EG-01.png
exon_skip_483806_LIHC_TCGA-DD-A1EG-01.png
exon_skip_484511_LIHC_TCGA-DD-A1EG-01.png
exon_skip_486903_LIHC_TCGA-DD-A1EG-01.png
exon_skip_486908_LIHC_TCGA-DD-A1EG-01.png
exon_skip_487634_LIHC_TCGA-DD-A1EG-01.png
exon_skip_48914_LIHC_TCGA-DD-A1EG-01.png
exon_skip_489575_LIHC_TCGA-DD-A1EG-01.png
exon_skip_489706_LIHC_TCGA-DD-A1EG-01.png
exon_skip_490514_LIHC_TCGA-DD-A1EG-01.png
exon_skip_492073_LIHC_TCGA-DD-A1EG-01.png
exon_skip_494000_LIHC_TCGA-DD-A1EG-01.png
exon_skip_495598_LIHC_TCGA-DD-A1EG-01.png
exon_skip_495600_LIHC_TCGA-DD-A1EG-01.png
exon_skip_497719_LIHC_TCGA-DD-A1EG-01.png
exon_skip_498628_LIHC_TCGA-DD-A1EG-01.png
exon_skip_498631_LIHC_TCGA-DD-A1EG-01.png
exon_skip_499018_LIHC_TCGA-DD-A1EG-01.png
exon_skip_501551_LIHC_TCGA-DD-A1EG-01.png
exon_skip_503330_LIHC_TCGA-DD-A1EG-01.png
exon_skip_503777_LIHC_TCGA-DD-A1EG-01.png
exon_skip_504288_LIHC_TCGA-DD-A1EG-01.png
exon_skip_5044_LIHC_TCGA-DD-A1EG-01.png
exon_skip_506320_LIHC_TCGA-DD-A1EG-01.png
exon_skip_507513_LIHC_TCGA-DD-A1EG-01.png
exon_skip_508970_LIHC_TCGA-DD-A1EG-01.png
exon_skip_510119_LIHC_TCGA-DD-A1EG-01.png
exon_skip_512244_LIHC_TCGA-DD-A1EG-01.png
exon_skip_512530_LIHC_TCGA-DD-A1EG-01.png
exon_skip_513207_LIHC_TCGA-DD-A1EG-01.png
exon_skip_513240_LIHC_TCGA-DD-A1EG-01.png
exon_skip_514990_LIHC_TCGA-DD-A1EG-01.png
exon_skip_516934_LIHC_TCGA-DD-A1EG-01.png
exon_skip_517296_LIHC_TCGA-DD-A1EG-01.png
exon_skip_517308_LIHC_TCGA-DD-A1EG-01.png
exon_skip_52417_LIHC_TCGA-DD-A1EG-01.png
exon_skip_54123_LIHC_TCGA-DD-A1EG-01.png
exon_skip_54476_LIHC_TCGA-DD-A1EG-01.png
exon_skip_56470_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57633_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57892_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57897_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58035_LIHC_TCGA-DD-A1EG-01.png
exon_skip_5818_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58444_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58894_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59424_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59476_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59654_LIHC_TCGA-DD-A1EG-01.png
exon_skip_60187_LIHC_TCGA-DD-A1EG-01.png
exon_skip_60189_LIHC_TCGA-DD-A1EG-01.png
exon_skip_62322_LIHC_TCGA-DD-A1EG-01.png
exon_skip_63747_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66185_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66376_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66813_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67402_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67594_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67918_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68288_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68407_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68411_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68522_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68768_LIHC_TCGA-DD-A1EG-01.png
exon_skip_69056_LIHC_TCGA-DD-A1EG-01.png
exon_skip_70050_LIHC_TCGA-DD-A1EG-01.png
exon_skip_71400_LIHC_TCGA-DD-A1EG-01.png
exon_skip_77097_LIHC_TCGA-DD-A1EG-01.png
exon_skip_79815_LIHC_TCGA-DD-A1EG-01.png
exon_skip_81531_LIHC_TCGA-DD-A1EG-01.png
exon_skip_81532_LIHC_TCGA-DD-A1EG-01.png
exon_skip_822_LIHC_TCGA-DD-A1EG-01.png
exon_skip_82890_LIHC_TCGA-DD-A1EG-01.png
exon_skip_84090_LIHC_TCGA-DD-A1EG-01.png
exon_skip_86135_LIHC_TCGA-DD-A1EG-01.png
exon_skip_87721_LIHC_TCGA-DD-A1EG-01.png
exon_skip_87_LIHC_TCGA-DD-A1EG-01.png
exon_skip_93888_LIHC_TCGA-DD-A1EG-01.png
exon_skip_93891_LIHC_TCGA-DD-A1EG-01.png
exon_skip_94866_LIHC_TCGA-DD-A1EG-01.png
exon_skip_96939_LIHC_TCGA-DD-A1EG-01.png
exon_skip_9694_LIHC_TCGA-DD-A1EG-01.png
exon_skip_97667_LIHC_TCGA-DD-A1EG-01.png
exon_skip_98055_LIHC_TCGA-DD-A1EG-01.png
exon_skip_98056_LIHC_TCGA-DD-A1EG-01.png
exon_skip_99140_LIHC_TCGA-DD-A1EG-01.png
	Sample: TCGA-06-0211-02
	Cancer type: GBM
	ESID: exon_skip_359488
	Skipped exon start: 35174734
	Skipped exon end: 35174748
	Mutation start: 35174748
	Mutation end: 35174748
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W773_splice
	Sample: TCGA-06-0211-02
	Cancer type: GBM
	ESID: exon_skip_359488
	Skipped exon start: 35174741
	Skipped exon end: 35174748
	Mutation start: 35174748
	Mutation end: 35174748
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W773_splice
exon_skip_359487_GBM_TCGA-06-0211-02.png
exon_skip_359488_GBM_TCGA-06-0211-02.png
	Sample: TCGA-06-0211-02
	Cancer type: GBM
	ESID: exon_skip_359488
	Skipped exon start: 35174734
	Skipped exon end: 35174748
	Mutation start: 35174748
	Mutation end: 35174748
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W773_splice
	Sample: TCGA-06-0211-02
	Cancer type: GBM
	ESID: exon_skip_359488
	Skipped exon start: 35174741
	Skipped exon end: 35174748
	Mutation start: 35174748
	Mutation end: 35174748
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W773_splice
exon_skip_359487_GBM_TCGA-06-0211-02.png
exon_skip_359488_GBM_TCGA-06-0211-02.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
DV90_LUNG	35122448	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.P157fs
DV90_LUNG	35122559	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.P157fs
LOVO_LARGE_INTESTINE	35122448	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.P157fs
LOVO_LARGE_INTESTINE	35122559	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.P157fs
SNGM_ENDOMETRIUM	35122448	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.P157fs
SNGM_ENDOMETRIUM	35122559	35122627	35122567	35122567	Frame_Shift_Del	C	-	p.P157fs
SISO_CERVIX	35183279	35183526	35183454	35183454	Frame_Shift_Del	C	-	p.T832fs
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35183279	35183526	35183454	35183454	Frame_Shift_Del	C	-	p.T832fs
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35199122	35199167	35199157	35199157	Frame_Shift_Del	A	-	p.G1073fs
SKMEL30_SKIN	35190571	35190776	35190621	35190622	Frame_Shift_Ins	-	A	p.K927fs
RCCFG2_KIDNEY	35190571	35190776	35190725	35190726	Frame_Shift_Ins	-	C	p.FP961fs
EW7_BONE	35094893	35094956	35094936	35094936	Missense_Mutation	A	T	p.Q55H
RKO_LARGE_INTESTINE	35127602	35127702	35127634	35127634	Missense_Mutation	A	G	p.Q219R
NCIH2227_LUNG	35127602	35127702	35127655	35127655	Missense_Mutation	G	T	p.R226M
CAL12T_LUNG	35127602	35127702	35127656	35127656	Missense_Mutation	G	T	p.R226S
OMC1_CERVIX	35127602	35127702	35127690	35127690	Missense_Mutation	G	A	p.G238R
RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35140017	35140132	35140067	35140067	Missense_Mutation	A	G	p.D326G
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35140017	35140132	35140079	35140079	Missense_Mutation	C	A	p.P330Q
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35183279	35183526	35183390	35183390	Missense_Mutation	G	A	p.A811T
SC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35183279	35183526	35183402	35183402	Missense_Mutation	C	A	p.P815T
SCI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35183279	35183526	35183402	35183402	Missense_Mutation	C	A	p.P815T
SNU1040_LARGE_INTESTINE	35183279	35183526	35183429	35183429	Missense_Mutation	G	A	p.A824T
DV90_LUNG	35183279	35183526	35183469	35183469	Missense_Mutation	C	T	p.A837V
NCIH1573_LUNG	35183279	35183526	35183478	35183478	Missense_Mutation	C	G	p.S840C
SW684_SOFT_TISSUE	35183279	35183526	35183481	35183481	Missense_Mutation	C	T	p.S841L
MZ7MEL_SKIN	35190571	35190776	35190586	35190586	Missense_Mutation	G	A	p.G915R
KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35190571	35190776	35190647	35190647	Missense_Mutation	A	T	p.N935I
BICR18_UPPER_AERODIGESTIVE_TRACT	35190571	35190776	35190653	35190653	Missense_Mutation	A	G	p.N937S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35190571	35190776	35190653	35190653	Missense_Mutation	A	G	p.N937S
BT474_BREAST	35190571	35190776	35190655	35190655	Missense_Mutation	G	C	p.D938H
BICR18_UPPER_AERODIGESTIVE_TRACT	35195791	35195957	35195862	35195862	Missense_Mutation	T	G	p.L1030V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35195791	35195957	35195862	35195862	Missense_Mutation	T	G	p.L1030V
S117_SOFT_TISSUE	35195791	35195957	35195862	35195862	Missense_Mutation	T	G	p.L1030V
BICR18_UPPER_AERODIGESTIVE_TRACT	35195791	35195957	35195913	35195913	Missense_Mutation	G	T	p.A1047S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35195791	35195957	35195913	35195913	Missense_Mutation	G	T	p.A1047S
S117_SOFT_TISSUE	35195791	35195957	35195913	35195913	Missense_Mutation	G	T	p.A1047S
SNUC5_LARGE_INTESTINE	35201928	35202049	35201984	35201984	Missense_Mutation	G	A	p.A1096T
HCC1359_LUNG	35201928	35202049	35202009	35202009	Missense_Mutation	G	A	p.R1104Q
MELHO_SKIN	35230990	35231096	35231017	35231017	Missense_Mutation	G	A	p.E1271K
SNU81_LARGE_INTESTINE	35230990	35231096	35231051	35231051	Missense_Mutation	T	G	p.F1282C
HCC2998_LARGE_INTESTINE	35230990	35231096	35231081	35231081	Missense_Mutation	A	C	p.N1292T
SKUT1_SOFT_TISSUE	35247658	35247825	35247709	35247709	Missense_Mutation	G	A	p.A1409T
NB17_AUTONOMIC_GANGLIA	35247658	35247825	35247709	35247709	Missense_Mutation	G	A	p.A1409T
HCC2108_LUNG	35247658	35247825	35247820	35247820	Missense_Mutation	T	G	p.S1446A
KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35254547	35254759	35254695	35254695	Missense_Mutation	G	T	p.G1497V
RKO_LARGE_INTESTINE	35190571	35190776	35190615	35190615	Nonsense_Mutation	G	A	p.W924*
NCIH441_LUNG	35195791	35195957	35195814	35195814	Nonsense_Mutation	G	T	p.E1014*
HEC1_ENDOMETRIUM	35199122	35199167	35199155	35199155	Nonsense_Mutation	G	T	p.G1073*
HEC1B_ENDOMETRIUM	35199122	35199167	35199155	35199155	Nonsense_Mutation	G	T	p.G1073*
HCT15_LARGE_INTESTINE	35201928	35202049	35202008	35202008	Nonsense_Mutation	C	T	p.R1104*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITSN1

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_359497	21	35191544:35191627:35201927:35202049:35206610:35206700	35201927:35202049	ENST00000399349.1,ENST00000379960.5,ENST00000399355.2	LUAD	rs1108000	chr21:35201947	A/G	2.19e-03
exon_skip_359497	21	35191544:35191627:35201927:35202049:35206610:35206700	35201927:35202049	ENST00000399349.1,ENST00000379960.5,ENST00000399355.2	LUAD	rs1108000	chr21:35201947	A/G	2.37e-03
exon_skip_359499	21	35199121:35199167:35201271:35201354:35201927:35201990	35201271:35201354	ENST00000437126.1	THCA	rs2245099	chr21:35201281	C/T	8.95e-04
exon_skip_359499	21	35199121:35199167:35201271:35201354:35201927:35201990	35201271:35201354	ENST00000437126.1	THCA	rs2245099	chr21:35201281	C/T	1.74e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITSN1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITSN1

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RelatedDrugs for ITSN1

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 ITSN1

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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Gene summary for ITSN1

Exon skipping events across known transcript of Ensembl for ITSN1 from UCSC genome browser

Gene isoform structures and expression levels for ITSN1

Exon skipping events with PSIs in TCGA for ITSN1

Exon skipping events with PSIs in GTEx for ITSN1

Open reading frame (ORF) annotation in the exon skipping event for ITSN1

Infer the effects of exon skipping event on protein functional features for ITSN1

SNVs in the skipped exons for ITSN1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITSN1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITSN1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITSN1

RelatedDrugs for ITSN1

RelatedDiseases for ITSN1