ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PTEN

Gene summary

Gene information	Gene symbol	PTEN
	Gene ID	5728
	Gene name	phosphatase and tensin homolog
	Synonyms	10q23del\|BZS\|CWS1\|DEC\|GLM2\|MHAM\|MMAC1\|PTEN1\|PTENbeta\|TEP1
	Cytomap	10q23.31
	Type of gene	protein-coding
	Description	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENMMAC1 phosphatase and tensin homolog deleted on chromosome 10mitochondrial PTENalphamitochondrial phosphatase and tensin protein alphamutated in multip
	Modification date	20180527
	UniProtAcc	P60484
	Context	PubMed: PTEN [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
PTEN	GO:0001933	negative regulation of protein phosphorylation	20123964
PTEN	GO:0006470	protein dephosphorylation	9256433
PTEN	GO:0008285	negative regulation of cell proliferation	19057511
PTEN	GO:0031658	negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle	21241890
PTEN	GO:0046855	inositol phosphate dephosphorylation	9593664
PTEN	GO:0046856	phosphatidylinositol dephosphorylation	9593664\|9811831
PTEN	GO:0050821	protein stabilization	20123964
PTEN	GO:0060070	canonical Wnt signaling pathway	20123964
PTEN	GO:1904668	positive regulation of ubiquitin protein ligase activity	21241890
PTEN	GO:2000060	positive regulation of ubiquitin-dependent protein catabolic process	21241890
PTEN	GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	21241890

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Exon skipping events across known transcript of Ensembl for PTEN 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 PTEN

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 PTEN

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_43702	10	89653781:89653866:89685269:89685314:89690802:89690846	89685269:89685314	ENSG00000171862.5	ENST00000371953.3
exon_skip_43707	10	89685279:89685314:89690802:89690846:89692769:89693008	89690802:89690846	ENSG00000171862.5	ENST00000371953.3,ENST00000498703.1
exon_skip_43714	10	89692769:89693008:89711874:89712016:89717609:89717776	89711874:89712016	ENSG00000171862.5	ENST00000371953.3
exon_skip_43716	10	89711955:89712016:89717609:89717776:89720650:89720875	89717609:89717776	ENSG00000171862.5	ENST00000371953.3,ENST00000472832.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PTEN

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_43702	10	89653781:89653866:89685269:89685314:89690802:89690846	89685269:89685314	ENSG00000171862.5	ENST00000371953.3
exon_skip_43707	10	89685279:89685314:89690802:89690846:89692769:89693008	89690802:89690846	ENSG00000171862.5	ENST00000371953.3,ENST00000498703.1
exon_skip_43714	10	89692769:89693008:89711874:89712016:89717609:89717776	89711874:89712016	ENSG00000171862.5	ENST00000371953.3
exon_skip_43716	10	89711955:89712016:89717609:89717776:89720650:89720875	89717609:89717776	ENSG00000171862.5	ENST00000371953.3,ENST00000472832.1

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 PTEN

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

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

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

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

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

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 PTEN

- 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.

PTEN_BRCA_exon_skip_43702_psi_boxplot.png
boxplot

PTEN_BRCA_exon_skip_43714_psi_boxplot.png
boxplot

PTEN_CESC_exon_skip_43702_psi_boxplot.png
boxplot

PTEN_CESC_exon_skip_43707_psi_boxplot.png
boxplot

PTEN_CESC_exon_skip_43714_psi_boxplot.png
boxplot

PTEN_CESC_exon_skip_43716_psi_boxplot.png
boxplot

PTEN_COAD_exon_skip_43702_psi_boxplot.png
boxplot

PTEN_COAD_exon_skip_43716_psi_boxplot.png
boxplot

PTEN_ESCA_exon_skip_43702_psi_boxplot.png
boxplot

PTEN_ESCA_exon_skip_43716_psi_boxplot.png
boxplot

PTEN_KIRC_exon_skip_43714_psi_boxplot.png
boxplot

PTEN_LIHC_exon_skip_43707_psi_boxplot.png
boxplot

PTEN_LIHC_exon_skip_43714_psi_boxplot.png
boxplot

PTEN_LUAD_exon_skip_43716_psi_boxplot.png
boxplot

PTEN_LUSC_exon_skip_43714_psi_boxplot.png
boxplot

PTEN_LUSC_exon_skip_43716_psi_boxplot.png
boxplot

PTEN_READ_exon_skip_43714_psi_boxplot.png
boxplot

PTEN_SKCM_exon_skip_43702_psi_boxplot.png
boxplot

PTEN_SKCM_exon_skip_43707_psi_boxplot.png
boxplot

PTEN_SKCM_exon_skip_43716_psi_boxplot.png
boxplot

PTEN_STAD_exon_skip_43716_psi_boxplot.png
boxplot

PTEN_UCS_exon_skip_43714_psi_boxplot.png
boxplot

PTEN_UCS_exon_skip_43716_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
UCEC	TCGA-BS-A0T9-01	exon_skip_43702	89685270	89685314	89685271	89685271	Frame_Shift_Del	T	-	p.R55_splice
UCEC	TCGA-BG-A0MC-01	exon_skip_43702	89685270	89685314	89685279	89685279	Frame_Shift_Del	T	-	p.D58fs
UCEC	TCGA-AP-A0LE-01	exon_skip_43702	89685270	89685314	89685281	89685294	Frame_Shift_Del	CAAAGCATAAAAAC	-	p.K60fs
UCEC	TCGA-AP-A0LE-01	exon_skip_43702	89685270	89685314	89685281	89685294	Frame_Shift_Del	CAAAGCATAAAAAC	-	p.S59fs
SKCM	TCGA-W3-A824-06	exon_skip_43702	89685270	89685314	89685289	89685289	Frame_Shift_Del	A	-	p.K62fs
UCEC	TCGA-D1-A0ZQ-01	exon_skip_43702	89685270	89685314	89685289	89685289	Frame_Shift_Del	A	-	p.K62fs
UCEC	TCGA-BS-A0U7-01	exon_skip_43702	89685270	89685314	89685294	89685294	Frame_Shift_Del	C	-	p.N63fs
UCEC	TCGA-D1-A16E-01	exon_skip_43702	89685270	89685314	89685312	89685313	Frame_Shift_Del	TC	-	p.A72fs
UCEC	TCGA-D1-A16E-01	exon_skip_43702	89685270	89685314	89685312	89685313	Frame_Shift_Del	TC	-	p.N69fs
UCEC	TCGA-AX-A05U-01	exon_skip_43702	89685270	89685314	89685314	89685315	Frame_Shift_Del	TG	-	p.C71fs
BRCA	TCGA-A7-A26F-01	exon_skip_43707	89690803	89690846	89690810	89690811	Frame_Shift_Del	GA	-	p.E73fs
BRCA	TCGA-E2-A1IH-01	exon_skip_43707	89690803	89690846	89690810	89690813	Frame_Shift_Del	GAAA	-	p.E73fs
SKCM	TCGA-EE-A3AH-06	exon_skip_43707	89690803	89690846	89690811	89690812	Frame_Shift_Del	AA	-	p.73_73del
SKCM	TCGA-EE-A3AH-06	exon_skip_43707	89690803	89690846	89690811	89690812	Frame_Shift_Del	AA	-	p.E73fs
UCEC	TCGA-D1-A17H-01	exon_skip_43707	89690803	89690846	89690811	89690811	Frame_Shift_Del	A	-	p.E73fs
UCEC	TCGA-D1-A17H-01	exon_skip_43707	89690803	89690846	89690811	89690811	Frame_Shift_Del	A	-	p.R74fs
GBM	TCGA-06-0157-01	exon_skip_43707	89690803	89690846	89690819	89690820	Frame_Shift_Del	TA	-	p.Y76fs
SKCM	TCGA-XV-A9W5-01	exon_skip_43707	89690803	89690846	89690833	89690834	Frame_Shift_Del	AT	-	p.KF80fs
LIHC	TCGA-DD-A39Y-01	exon_skip_43707	89690803	89690846	89690834	89690834	Frame_Shift_Del	T	-	p.F81fs
UCEC	TCGA-D1-A16R-01	exon_skip_43714	89711875	89712016	89711887	89711890	Frame_Shift_Del	CCCA	-	p.P169fs
UCEC	TCGA-AX-A06L-01	exon_skip_43714	89711875	89712016	89711896	89711896	Frame_Shift_Del	A	-	p.R172fs
KIRC	TCGA-B0-4700-01	exon_skip_43714	89711875	89712016	89711905	89711905	Frame_Shift_Del	G	-	p.Y174X
KICH	TCGA-KL-8345-01	exon_skip_43714	89711875	89712016	89711920	89711926	Frame_Shift_Del	TACCTGT	-	p.179_181del
KICH	TCGA-KL-8345-01	exon_skip_43714	89711875	89712016	89711920	89711926	Frame_Shift_Del	TACCTGT	-	p.Y180fs
BRCA	TCGA-AC-A23C-01	exon_skip_43714	89711875	89712016	89711928	89711929	Frame_Shift_Del	AA	-	p.K183fs
GBM	TCGA-14-1395-01	exon_skip_43714	89711875	89712016	89711928	89711928	Frame_Shift_Del	A	-	p.L182fs
THCA	TCGA-BJ-A0Z0-01	exon_skip_43714	89711875	89712016	89711928	89711928	Frame_Shift_Del	A	-	p.L182fs
LUSC	TCGA-66-2788-01	exon_skip_43714	89711875	89712016	89711960	89711960	Frame_Shift_Del	T	-	p.L193fs
GBM	TCGA-06-0644-01	exon_skip_43714	89711875	89712016	89711988	89711989	Frame_Shift_Del	TA	-	p.T202fs
UCEC	TCGA-B5-A11H-01	exon_skip_43714	89711875	89712016	89711988	89711989	Frame_Shift_Del	TA	-	p.I203fs
UCEC	TCGA-BG-A0MS-01	exon_skip_43714	89711875	89712016	89712001	89712001	Frame_Shift_Del	A	-	p.S207fs
UCEC	TCGA-D1-A174-01	exon_skip_43714	89711875	89712016	89712011	89712011	Frame_Shift_Del	C	-	p.T210fs
UCEC	TCGA-BG-A0YV-01	exon_skip_43714	89711875	89712016	89712016	89712019	Frame_Shift_Del	AGTA	-	p.N212fs
UCEC	TCGA-A5-A0GQ-01	exon_skip_43716	89717610	89717776	89717626	89717626	Frame_Shift_Del	C	-	p.C218fs
UCEC	TCGA-A5-A0GQ-01	exon_skip_43716	89717610	89717776	89717626	89717626	Frame_Shift_Del	C	-	p.V217fs
KIRP	TCGA-A4-7996-01	exon_skip_43716	89717610	89717776	89717645	89717646	Frame_Shift_Del	AT	-	p.223_224del
KIRP	TCGA-A4-7996-01	exon_skip_43716	89717610	89717776	89717645	89717646	Frame_Shift_Del	AT	-	p.I224fs
OV	TCGA-13-1492-01	exon_skip_43716	89717610	89717776	89717672	89717672	Frame_Shift_Del	C	-	p.R233fs
SKCM	TCGA-BF-AAP6-01	exon_skip_43716	89717610	89717776	89717699	89717699	Frame_Shift_Del	G	-	p.E242fs
GBM	TCGA-12-1597-01	exon_skip_43716	89717610	89717776	89717704	89717704	Frame_Shift_Del	C	-	p.F243fs
STAD	TCGA-BR-8591-01	exon_skip_43716	89717610	89717776	89717719	89717720	Frame_Shift_Del	TG	-	p.248_248del
STAD	TCGA-BR-8591-01	exon_skip_43716	89717610	89717776	89717719	89717720	Frame_Shift_Del	TG	-	p.P248fs
BRCA	TCGA-E2-A14Z-01	exon_skip_43716	89717610	89717776	89717727	89717737	Frame_Shift_Del	GTGATATCAAA	-	p.D252fs
UCEC	TCGA-A5-A0R9-01	exon_skip_43716	89717610	89717776	89717749	89717749	Frame_Shift_Del	C	-	p.F258fs
UCEC	TCGA-A5-A0R9-01	exon_skip_43716	89717610	89717776	89717749	89717749	Frame_Shift_Del	C	-	p.H259fs
UCEC	TCGA-D1-A15Z-01	exon_skip_43716	89717610	89717776	89717753	89717754	Frame_Shift_Del	AA	-	p.K260fs
UCEC	TCGA-D1-A165-01	exon_skip_43716	89717610	89717776	89717757	89717758	Frame_Shift_Del	AG	-	p.N262fs
UCEC	TCGA-D1-A165-01	exon_skip_43716	89717610	89717776	89717757	89717758	Frame_Shift_Del	AG	-	p.Q261fs
COAD	TCGA-AA-3663-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
COAD	TCGA-CK-5913-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
COAD	TCGA-CM-6162-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
COAD	TCGA-D5-6927-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
COAD	TCGA-G4-6309-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
STAD	TCGA-BR-4201-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
STAD	TCGA-BR-4257-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
STAD	TCGA-BR-4362-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
STAD	TCGA-BR-8284-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
STAD	TCGA-BR-8368-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
STAD	TCGA-BR-8591-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
STAD	TCGA-HU-A4GT-01	exon_skip_43716	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
UCEC	TCGA-BG-A0VX-01	exon_skip_43702	89685270	89685314	89685270	89685271	Frame_Shift_Ins	-	T	p.R55_splice
UCEC	TCGA-A5-A0R7-01	exon_skip_43702	89685270	89685314	89685292	89685293	Frame_Shift_Ins	-	ACCATTAC	p.K66fs
UCEC	TCGA-A5-A0R7-01	exon_skip_43702	89685270	89685314	89685292	89685293	Frame_Shift_Ins	-	ACCATTAC	p.N63fs
CESC	TCGA-EA-A556-01	exon_skip_43702	89685270	89685314	89685305	89685306	Frame_Shift_Ins	-	A	p.Y68fs
UCEC	TCGA-A5-A0R8-01	exon_skip_43707	89690803	89690846	89690809	89690810	Frame_Shift_Ins	-	GAAA	p.A72fs
UCEC	TCGA-A5-A0R8-01	exon_skip_43707	89690803	89690846	89690809	89690810	Frame_Shift_Ins	-	GAAA	p.H74fs
UCEC	TCGA-D1-A16R-01	exon_skip_43714	89711875	89712016	89711885	89711886	Frame_Shift_Ins	-	G	p.I168fs
PRAD	TCGA-KC-A4BV-01	exon_skip_43714	89711875	89712016	89711886	89711887	Frame_Shift_Ins	-	C	p.I168fs
PRAD	TCGA-KC-A4BV-01	exon_skip_43714	89711875	89712016	89711886	89711887	Frame_Shift_Ins	-	C	p.P169fs
PRAD	TCGA-KC-A4BV-01	exon_skip_43714	89711875	89712016	89711886	89711887	Frame_Shift_Ins	-	C	p.Q169fs
UCEC	TCGA-BS-A0WQ-01	exon_skip_43714	89711875	89712016	89711925	89711926	Frame_Shift_Ins	-	T	p.L181fs
UCEC	TCGA-A5-A0R7-01	exon_skip_43714	89711875	89712016	89711927	89711928	Frame_Shift_Ins	-	A	p.L182fs
UCEC	TCGA-A5-A0R7-01	exon_skip_43714	89711875	89712016	89711927	89711928	Frame_Shift_Ins	-	A	p.N184fs
UCEC	TCGA-AP-A051-01	exon_skip_43714	89711875	89712016	89711927	89711928	Frame_Shift_Ins	-	A	p.N184fs
UCEC	TCGA-D1-A15Z-01	exon_skip_43714	89711875	89712016	89711964	89711965	Frame_Shift_Ins	-	T	p.H195fs
UCEC	TCGA-D1-A15Z-01	exon_skip_43714	89711875	89712016	89711964	89711965	Frame_Shift_Ins	-	T	p.L194fs
UCEC	TCGA-D1-A17S-01	exon_skip_43714	89711875	89712016	89711966	89711967	Frame_Shift_Ins	-	TC	p.F195fs
UCEC	TCGA-D1-A17S-01	exon_skip_43714	89711875	89712016	89711966	89711967	Frame_Shift_Ins	-	TC	p.H196fs
KIRC	TCGA-BP-5010-01	exon_skip_43714	89711875	89712016	89711969	89711970	Frame_Shift_Ins	-	C	p.H196fs
KIRC	TCGA-BP-5010-01	exon_skip_43714	89711875	89712016	89711969	89711970	Frame_Shift_Ins	-	C	p.Q196fs
UCEC	TCGA-D1-A16F-01	exon_skip_43714	89711875	89712016	89712008	89712009	Frame_Shift_Ins	-	A	p.T210fs
UCEC	TCGA-BS-A0UM-01	exon_skip_43714	89711875	89712016	89712013	89712014	Frame_Shift_Ins	-	G	p.C211fs
STAD	TCGA-FP-8211-01	exon_skip_43716	89717610	89717776	89717665	89717666	Frame_Shift_Ins	-	C	p.G230fs
STAD	TCGA-FP-8211-01	exon_skip_43716	89717610	89717776	89717666	89717667	Frame_Shift_Ins	-	C	p.G230fs
SKCM	TCGA-EB-A6R0-01	exon_skip_43716	89717610	89717776	89717673	89717674	Frame_Shift_Ins	-	AC	p.P233fs
UCS	TCGA-N7-A4Y0-01	exon_skip_43716	89717610	89717776	89717674	89717675	Frame_Shift_Ins	-	C	p.R233fs
UCS	TCGA-N7-A4Y0-01	exon_skip_43716	89717610	89717776	89717674	89717675	Frame_Shift_Ins	-	C	p.RG233fs
UCEC	TCGA-AP-A0LD-01	exon_skip_43716	89717610	89717776	89717683	89717684	Frame_Shift_Ins	-	A	p.D236fs
UCEC	TCGA-AP-A0LD-01	exon_skip_43716	89717610	89717776	89717683	89717684	Frame_Shift_Ins	-	A	p.F237fs
GBM	TCGA-28-5209-01	exon_skip_43716	89717610	89717776	89717695	89717696	Frame_Shift_Ins	-	T	p.Y240fs
PRAD	TCGA-FC-7961-01	exon_skip_43716	89717610	89717776	89717695	89717696	Frame_Shift_Ins	-	T	p.*241fs
PRAD	TCGA-FC-7961-01	exon_skip_43716	89717610	89717776	89717695	89717696	Frame_Shift_Ins	-	T	p.F241fs
PRAD	TCGA-FC-7961-01	exon_skip_43716	89717610	89717776	89717695	89717696	Frame_Shift_Ins	-	T	p.Y240fs
GBM	TCGA-76-4925-01	exon_skip_43716	89717610	89717776	89717715	89717716	Frame_Shift_Ins	-	A	p.L247fs
LGG	TCGA-DU-8158-01	exon_skip_43716	89717610	89717776	89717715	89717716	Frame_Shift_Ins	-	A	p.L247fs
LGG	TCGA-DU-8158-01	exon_skip_43716	89717610	89717776	89717715	89717716	Frame_Shift_Ins	-	A	p.S247fs
PRAD	TCGA-KK-A6E7-01	exon_skip_43716	89717610	89717776	89717715	89717716	Frame_Shift_Ins	-	A	p.L247fs
PRAD	TCGA-KK-A6E7-01	exon_skip_43716	89717610	89717776	89717715	89717716	Frame_Shift_Ins	-	A	p.S247fs
UCEC	TCGA-B5-A11S-01	exon_skip_43716	89717610	89717776	89717715	89717716	Frame_Shift_Ins	-	A	p.L247fs
UCEC	TCGA-B5-A11S-01	exon_skip_43716	89717610	89717776	89717715	89717716	Frame_Shift_Ins	-	A	p.P248fs
UCEC	TCGA-B5-A11X-01	exon_skip_43716	89717610	89717776	89717715	89717716	Frame_Shift_Ins	-	A	p.L247fs
UCEC	TCGA-B5-A11X-01	exon_skip_43716	89717610	89717776	89717715	89717716	Frame_Shift_Ins	-	A	p.P248fs
BRCA	TCGA-D8-A13Z-01	exon_skip_43716	89717610	89717776	89717742	89717743	Frame_Shift_Ins	-	G	p.F257fs
STAD	TCGA-B7-5816-01	exon_skip_43716	89717610	89717776	89717769	89717770	Frame_Shift_Ins	-	A	p.L265fs
STAD	TCGA-CG-5728-01	exon_skip_43716	89717610	89717776	89717769	89717770	Frame_Shift_Ins	-	A	p.L265fs
STAD	TCGA-B7-5816-01	exon_skip_43716	89717610	89717776	89717770	89717771	Frame_Shift_Ins	-	A	p.L265fs
STAD	TCGA-CG-5728-01	exon_skip_43716	89717610	89717776	89717770	89717771	Frame_Shift_Ins	-	A	p.L265fs
UCEC	TCGA-A5-A0GU-01	exon_skip_43716	89717610	89717776	89717771	89717772	Frame_Shift_Ins	-	AAAAG	p.D268fs
LUSC	TCGA-56-5897-01	exon_skip_43702	89685270	89685314	89685281	89685281	Nonsense_Mutation	C	G	p.S59*
CESC	TCGA-C5-A1BM-01	exon_skip_43702	89685270	89685314	89685300	89685300	Nonsense_Mutation	C	G	p.Y65*
UCEC	TCGA-B5-A11J-01	exon_skip_43702	89685270	89685314	89685300	89685300	Nonsense_Mutation	C	G	p.Y65*
CESC	TCGA-C5-A1BQ-01	exon_skip_43714	89711875	89712016	89711893	89711893	Nonsense_Mutation	C	T	p.Q171*
HNSC	TCGA-BA-4074-01	exon_skip_43714	89711875	89712016	89711893	89711893	Nonsense_Mutation	C	T	p.Q171*
KIRC	TCGA-DV-5568-01	exon_skip_43714	89711875	89712016	89711910	89711910	Nonsense_Mutation	T	G	p.Y176X
BLCA	TCGA-KQ-A41R-01	exon_skip_43714	89711875	89712016	89711913	89711913	Nonsense_Mutation	T	G	p.Y177*
SKCM	TCGA-ER-A2NE-06	exon_skip_43714	89711875	89712016	89711916	89711916	Nonsense_Mutation	T	A	p.Y178*
THCA	TCGA-BJ-A0Z0-01	exon_skip_43714	89711875	89712016	89711928	89711928	Nonsense_Mutation	A	-	p.L182X
UCEC	TCGA-AX-A05Z-01	exon_skip_43714	89711875	89712016	89711983	89711983	Nonsense_Mutation	G	T	p.E201*
UCEC	TCGA-D1-A16X-01	exon_skip_43714	89711875	89712016	89711983	89711983	Nonsense_Mutation	G	T	p.E201*
UCS	TCGA-ND-A4WC-01	exon_skip_43714	89711875	89712016	89711983	89711983	Nonsense_Mutation	G	T	p.E201*
GBM	TCGA-76-4931-01	exon_skip_43714	89711875	89712016	89712007	89712007	Nonsense_Mutation	G	T	p.G209*
BLCA	TCGA-GV-A40E-01	exon_skip_43716	89717610	89717776	89717615	89717615	Nonsense_Mutation	C	T	p.Q214*
CESC	TCGA-BI-A0VR-01	exon_skip_43716	89717610	89717776	89717615	89717615	Nonsense_Mutation	C	T	p.Q214*
GBM	TCGA-32-1991-01	exon_skip_43716	89717610	89717776	89717636	89717636	Nonsense_Mutation	A	T	p.K221*
CESC	TCGA-C5-A7CL-01	exon_skip_43716	89717610	89717776	89717661	89717661	Nonsense_Mutation	C	G	p.S229*
HNSC	TCGA-MT-A67F-01	exon_skip_43716	89717610	89717776	89717661	89717661	Nonsense_Mutation	C	A	p.S229*
LGG	TCGA-S9-A6TW-01	exon_skip_43716	89717610	89717776	89717661	89717661	Nonsense_Mutation	C	G	p.S229*
CESC	TCGA-EA-A5FO-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
GBM	TCGA-02-2470-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
GBM	TCGA-06-0939-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
GBM	TCGA-06-5858-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
GBM	TCGA-41-2571-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
GBM	TCGA-76-6662-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
STAD	TCGA-BR-8284-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
STAD	TCGA-BR-8284-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233X
STAD	TCGA-BR-8487-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
STAD	TCGA-BR-8487-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233X
STAD	TCGA-FP-A4BE-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
STAD	TCGA-FP-A4BE-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233X
UCEC	TCGA-A5-A0GP-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-A5-A0VP-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-AP-A054-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-AP-A0LE-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-AX-A05W-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-AX-A05Y-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-BG-A0RY-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-BG-A18B-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-BS-A0TJ-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-BS-A0UJ-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-D1-A16B-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-D1-A16D-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-D1-A17A-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCEC	TCGA-D1-A17M-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCS	TCGA-NA-A4R1-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
UCS	TCGA-NA-A4R1-01	exon_skip_43716	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233X
LUSC	TCGA-18-3421-01	exon_skip_43716	89717610	89717776	89717678	89717678	Nonsense_Mutation	G	T	p.E235*
UCEC	TCGA-BS-A0UV-01	exon_skip_43716	89717610	89717776	89717695	89717695	Nonsense_Mutation	C	A	p.Y240*
UCEC	TCGA-D1-A17D-01	exon_skip_43716	89717610	89717776	89717695	89717695	Nonsense_Mutation	C	G	p.Y240*
BLCA	TCGA-G2-A2EL-01	exon_skip_43716	89717610	89717776	89717708	89717708	Nonsense_Mutation	C	T	p.Q245*
LUAD	TCGA-91-8499-01	exon_skip_43716	89717610	89717776	89717708	89717708	Nonsense_Mutation	C	T	p.Q245*
LUSC	TCGA-43-3920-01	exon_skip_43716	89717610	89717776	89717708	89717708	Nonsense_Mutation	C	T	p.Q245*
LUSC	TCGA-66-2783-01	exon_skip_43716	89717610	89717776	89717708	89717708	Nonsense_Mutation	C	T	p.Q245*
LIHC	TCGA-DD-A3A0-01	exon_skip_43716	89717610	89717776	89717725	89717725	Nonsense_Mutation	T	A	p.C250X
LGG	TCGA-TQ-A7RP-01	exon_skip_43716	89717610	89717776	89717741	89717741	Nonsense_Mutation	G	T	p.E256*
SKCM	TCGA-EE-A2GN-06	exon_skip_43716	89717610	89717776	89717741	89717741	Nonsense_Mutation	G	T	p.E256*
UCEC	TCGA-D1-A0ZN-01	exon_skip_43716	89717610	89717776	89717753	89717753	Nonsense_Mutation	A	T	p.K260*
ESCA	TCGA-LN-A4MQ-01	exon_skip_43716	89717610	89717776	89717762	89717762	Nonsense_Mutation	A	T	p.K263*
ESCA	TCGA-LN-A4MQ-01	exon_skip_43716	89717610	89717776	89717762	89717762	Nonsense_Mutation	A	T	p.K263X
KIRC	TCGA-B8-5158-01	exon_skip_43716	89717610	89717776	89717762	89717762	Nonsense_Mutation	A	T	p.K263*
KIRC	TCGA-B8-5158-01	exon_skip_43716	89717610	89717776	89717762	89717762	Nonsense_Mutation	A	T	p.K263X
BRCA	TCGA-B6-A0WW-01	exon_skip_43716	89717610	89717776	89717771	89717771	Nonsense_Mutation	A	T	p.K266*
COAD	TCGA-AZ-4616-01	exon_skip_43702	89685270	89685314	89685269	89685269	Splice_Site	G	A	.
ESCA	TCGA-LN-A4MQ-01	exon_skip_43702	89685270	89685314	89685269	89685269	Splice_Site	G	A	.
UCEC	TCGA-AX-A05U-01	exon_skip_43702	89685270	89685314	89685314	89685315	Splice_Site	TG	-	p.L70_splice
GBM	TCGA-16-0861-01	exon_skip_43702	89685270	89685314	89685315	89685318	Splice_Site	GTAA	-	p.L70_splice
UCEC	TCGA-A5-A0RA-01	exon_skip_43702	89685270	89685314	89685315	89685318	Splice_Site	GTAA	-	e3+1
UCEC	TCGA-A5-A0RA-01	exon_skip_43702	89685270	89685314	89685315	89685318	Splice_Site	GTAA	-	p.L70_splice
BRCA	TCGA-BH-A0E9-01	exon_skip_43702	89685270	89685314	89685316	89685316	Splice_Site	T	-	e3+2
SKCM	TCGA-EB-A44P-01	exon_skip_43707	89690803	89690846	89690801	89690801	Splice_Site	A	G	.
UCEC	TCGA-AX-A06L-01	exon_skip_43707	89690803	89690846	89690801	89690801	Splice_Site	A	G	e4-2
PRAD	TCGA-CH-5791-01	exon_skip_43707	89690803	89690846	89690802	89690802	Splice_Site	G	A	.
UCEC	TCGA-D1-A17R-01	exon_skip_43707	89690803	89690846	89690802	89690802	Splice_Site	G	A	e4-1
UCEC	TCGA-D1-A17R-01	exon_skip_43707	89690803	89690846	89690802	89690802	Splice_Site	G	A	p.L70_splice
CESC	TCGA-JW-A5VH-01	exon_skip_43707	89690803	89690846	89690847	89690847	Splice_Site	G	T	e4+1
BRCA	TCGA-B6-A0IB-01	exon_skip_43714	89711875	89712016	89711873	89711873	Splice_Site	A	G	e6-2
READ	TCGA-AG-4021-01	exon_skip_43714	89711875	89712016	89711874	89711874	Splice_Site	G	A	.
STAD	TCGA-R5-A805-01	exon_skip_43714	89711875	89712016	89711874	89711874	Splice_Site	G	A	.
KIRC	TCGA-A3-3308-01	exon_skip_43714	89711875	89712016	89712017	89712017	Splice_Site	G	A	.
LIHC	TCGA-CC-A5UD-01	exon_skip_43714	89711875	89712016	89712017	89712017	Splice_Site	G	T	.
UCEC	TCGA-D1-A17U-01	exon_skip_43714	89711875	89712016	89712017	89712017	Splice_Site	G	T	e6+1
UCEC	TCGA-D1-A17U-01	exon_skip_43714	89711875	89712016	89712017	89712017	Splice_Site	G	T	p.N212_splice
BRCA	TCGA-BH-A0HP-01	exon_skip_43714	89711875	89712016	89712018	89712018	Splice_Site	T	C	e6+2
CESC	TCGA-FU-A23K-01	exon_skip_43716	89717610	89717776	89717609	89717609	Splice_Site	G	A	e7-1
COAD	TCGA-F4-6807-01	exon_skip_43716	89717610	89717776	89717609	89717609	Splice_Site	G	T	.
UCEC	TCGA-A5-A0GB-01	exon_skip_43716	89717610	89717776	89717609	89717609	Splice_Site	G	T	e7-1
UCEC	TCGA-A5-A0GB-01	exon_skip_43716	89717610	89717776	89717609	89717609	Splice_Site	G	T	p.N212_splice
UCEC	TCGA-BG-A0MT-01	exon_skip_43716	89717610	89717776	89717609	89717609	Splice_Site	G	C	e7-1
UCEC	TCGA-BG-A0MT-01	exon_skip_43716	89717610	89717776	89717609	89717609	Splice_Site	G	C	p.N212_splice
UCEC	TCGA-BG-A0VX-01	exon_skip_43716	89717610	89717776	89717609	89717609	Splice_Site	G	A	p.N212_splice
UCEC	TCGA-AX-A064-01	exon_skip_43716	89717610	89717776	89717778	89717778	Splice_Site	T	C	e7+2
UCEC	TCGA-AX-A064-01	exon_skip_43716	89717610	89717776	89717778	89717778	Splice_Site	T	C	p.K267_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-AX-A064-01
	Cancer type: UCEC
	ESID: exon_skip_43716
	Skipped exon start: 89717610
	Skipped exon end: 89717776
	Mutation start: 89717778
	Mutation end: 89717778
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: p.K267_splice
	Sample: TCGA-AX-A064-01
	Cancer type: UCEC
	ESID: exon_skip_43716
	Skipped exon start: 89717610
	Skipped exon end: 89717776
	Mutation start: 89717778
	Mutation end: 89717778
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: e7+2
exon_skip_43716_UCEC_TCGA-AX-A064-01.png
	Sample: TCGA-B6-A0IB-01
	Cancer type: BRCA
	ESID: exon_skip_43714
	Skipped exon start: 89711875
	Skipped exon end: 89712016
	Mutation start: 89711873
	Mutation end: 89711873
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: e6-2
exon_skip_149187_BRCA_TCGA-B6-A0IB-01.png
exon_skip_43714_BRCA_TCGA-B6-A0IB-01.png
	Sample: TCGA-BH-A0HP-01
	Cancer type: BRCA
	ESID: exon_skip_43714
	Skipped exon start: 89711875
	Skipped exon end: 89712016
	Mutation start: 89712018
	Mutation end: 89712018
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: e6+2
exon_skip_43714_BRCA_TCGA-BH-A0HP-01.png
exon_skip_77623_BRCA_TCGA-BH-A0HP-01.png
	Sample: TCGA-A3-3308-01
	Cancer type: KIRC
	ESID: exon_skip_43714
	Skipped exon start: 89711875
	Skipped exon end: 89712016
	Mutation start: 89712017
	Mutation end: 89712017
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: .
exon_skip_10918_KIRC_TCGA-A3-3308-01.png
exon_skip_26359_KIRC_TCGA-A3-3308-01.png
exon_skip_348822_KIRC_TCGA-A3-3308-01.png
exon_skip_43714_KIRC_TCGA-A3-3308-01.png
exon_skip_93534_KIRC_TCGA-A3-3308-01.png
	Sample: TCGA-CC-A5UD-01
	Cancer type: LIHC
	ESID: exon_skip_43714
	Skipped exon start: 89711875
	Skipped exon end: 89712016
	Mutation start: 89712017
	Mutation end: 89712017
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: .
exon_skip_43714_LIHC_TCGA-CC-A5UD-01.png
exon_skip_50901_LIHC_TCGA-CC-A5UD-01.png
	Sample: TCGA-AG-4021-01
	Cancer type: READ
	ESID: exon_skip_43714
	Skipped exon start: 89711875
	Skipped exon end: 89712016
	Mutation start: 89711874
	Mutation end: 89711874
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: .
exon_skip_43714_READ_TCGA-AG-4021-01.png
	Sample: TCGA-D1-A17U-01
	Cancer type: UCEC
	ESID: exon_skip_43714
	Skipped exon start: 89711875
	Skipped exon end: 89712016
	Mutation start: 89712017
	Mutation end: 89712017
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: p.N212_splice
	Sample: TCGA-D1-A17U-01
	Cancer type: UCEC
	ESID: exon_skip_43714
	Skipped exon start: 89711875
	Skipped exon end: 89712016
	Mutation start: 89712017
	Mutation end: 89712017
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: e6+1
exon_skip_135111_UCEC_TCGA-D1-A17U-01.png
exon_skip_135112_UCEC_TCGA-D1-A17U-01.png
exon_skip_135114_UCEC_TCGA-D1-A17U-01.png
exon_skip_286384_UCEC_TCGA-D1-A17U-01.png
exon_skip_294586_UCEC_TCGA-D1-A17U-01.png
exon_skip_365789_UCEC_TCGA-D1-A17U-01.png
exon_skip_43714_UCEC_TCGA-D1-A17U-01.png
	Sample: TCGA-AC-A23C-01
	Cancer type: BRCA
	ESID: exon_skip_43714
	Skipped exon start: 89711875
	Skipped exon end: 89712016
	Mutation start: 89711928
	Mutation end: 89711929
	Mutation type: Frame_Shift_Del
	Reference seq: AA
	Mutation seq: -
	AAchange: p.K183fs
exon_skip_385593_BRCA_TCGA-AC-A23C-01.png
exon_skip_43714_BRCA_TCGA-AC-A23C-01.png
exon_skip_443239_BRCA_TCGA-AC-A23C-01.png
exon_skip_514095_BRCA_TCGA-AC-A23C-01.png
	Sample: TCGA-JW-A5VH-01
	Cancer type: CESC
	ESID: exon_skip_43707
	Skipped exon start: 89690803
	Skipped exon end: 89690846
	Mutation start: 89690847
	Mutation end: 89690847
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: e4+1
exon_skip_43707_CESC_TCGA-JW-A5VH-01.png
	Sample: TCGA-EB-A44P-01
	Cancer type: SKCM
	ESID: exon_skip_43707
	Skipped exon start: 89690803
	Skipped exon end: 89690846
	Mutation start: 89690801
	Mutation end: 89690801
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: .
exon_skip_43707_SKCM_TCGA-EB-A44P-01.png
	Sample: TCGA-BH-A0E9-01
	Cancer type: BRCA
	ESID: exon_skip_43702
	Skipped exon start: 89685270
	Skipped exon end: 89685314
	Mutation start: 89685316
	Mutation end: 89685316
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: -
	AAchange: e3+2
exon_skip_43702_BRCA_TCGA-BH-A0E9-01.png
	Sample: TCGA-AZ-4616-01
	Cancer type: COAD
	ESID: exon_skip_43702
	Skipped exon start: 89685270
	Skipped exon end: 89685314
	Mutation start: 89685269
	Mutation end: 89685269
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: .
exon_skip_43702_COAD_TCGA-AZ-4616-01.png
	Sample: TCGA-A5-A0RA-01
	Cancer type: UCEC
	ESID: exon_skip_43702
	Skipped exon start: 89685270
	Skipped exon end: 89685314
	Mutation start: 89685315
	Mutation end: 89685318
	Mutation type: Splice_Site
	Reference seq: GTAA
	Mutation seq: -
	AAchange: p.L70_splice
	Sample: TCGA-A5-A0RA-01
	Cancer type: UCEC
	ESID: exon_skip_43702
	Skipped exon start: 89685270
	Skipped exon end: 89685314
	Mutation start: 89685315
	Mutation end: 89685318
	Mutation type: Splice_Site
	Reference seq: GTAA
	Mutation seq: -
	AAchange: e3+1
exon_skip_43702_UCEC_TCGA-A5-A0RA-01.png
	Sample: TCGA-AX-A05U-01
	Cancer type: UCEC
	ESID: exon_skip_43702
	Skipped exon start: 89685270
	Skipped exon end: 89685314
	Mutation start: 89685314
	Mutation end: 89685315
	Mutation type: Frame_Shift_Del
	Reference seq: TG
	Mutation seq: -
	AAchange: p.C71fs
	Sample: TCGA-AX-A05U-01
	Cancer type: UCEC
	ESID: exon_skip_43702
	Skipped exon start: 89685270
	Skipped exon end: 89685314
	Mutation start: 89685314
	Mutation end: 89685315
	Mutation type: Splice_Site
	Reference seq: TG
	Mutation seq: -
	AAchange: p.L70_splice
exon_skip_43702_UCEC_TCGA-AX-A05U-01.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
HCC461_LUNG	89685270	89685314	89685289	89685289	Frame_Shift_Del	A	-	p.K62fs
HEC151_ENDOMETRIUM	89690803	89690846	89690819	89690820	Frame_Shift_Del	TA	-	p.Y76fs
M059J_CENTRAL_NERVOUS_SYSTEM	89711875	89712016	89711992	89711992	Frame_Shift_Del	C	-	p.P204fs
M059K_CENTRAL_NERVOUS_SYSTEM	89711875	89712016	89711992	89711992	Frame_Shift_Del	C	-	p.P204fs
NCIH1781_LUNG	89717610	89717776	89717710	89717714	Frame_Shift_Del	GCCGT	-	p.QPL245fs
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717718	89717719	Frame_Shift_Del	CT	-	p.P248fs
PACADD137_PANCREAS	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
HEC59_ENDOMETRIUM	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
SNU520_STOMACH	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
TOV21G_OVARY	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
EFO27_OVARY	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
HCC1569_BREAST	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
KM12_LARGE_INTESTINE	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717770	89717770	Frame_Shift_Del	A	-	p.L265fs
LN464_CENTRAL_NERVOUS_SYSTEM	89711875	89712016	89711927	89711928	Frame_Shift_Ins	-	A	p.LK182fs
ACN_AUTONOMIC_GANGLIA	89711875	89712016	89711927	89711928	Frame_Shift_Ins	-	A	p.LK182fs
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717671	89717672	Frame_Shift_Ins	-	G	p.R233fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717673	89717674	Frame_Shift_Ins	-	GGCCCAT	p.R234fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717673	89717674	Frame_Shift_Ins	-	GGCCC	p.R234fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717674	89717675	Frame_Shift_Ins	-	TG	p.R234fs
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717680	89717681	Frame_Shift_Ins	-	CCCCCGGCCC	p.D236fs
R262_CENTRAL_NERVOUS_SYSTEM	89717610	89717776	89717695	89717696	Frame_Shift_Ins	-	TT	p.F241fs
U251MG_CENTRAL_NERVOUS_SYSTEM	89717610	89717776	89717695	89717696	Frame_Shift_Ins	-	TT	p.F241fs
ASH3_THYROID	89717610	89717776	89717698	89717699	Frame_Shift_Ins	-	G	p.E242fs
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717710	89717711	Frame_Shift_Ins	-	CTTTA	p.P246fs
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717710	89717711	Frame_Shift_Ins	-	CCGCT	p.-247fs
CP50MELB_SKIN	89717610	89717776	89717711	89717712	Frame_Shift_Ins	-	AA	p.P246fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717712	89717713	Frame_Shift_Ins	-	CTGGGTT	p.L247fs
UACC62_SKIN	89717610	89717776	89717715	89717716	Frame_Shift_Ins	-	A	p.P248fs
U178_CENTRAL_NERVOUS_SYSTEM	89717610	89717776	89717715	89717716	Frame_Shift_Ins	-	A	p.P248fs
HEC251_ENDOMETRIUM	89685270	89685314	89685289	89685289	Missense_Mutation	A	C	p.K62Q
CHSA0011_BONE	89685270	89685314	89685294	89685294	Missense_Mutation	C	A	p.N63K
LS180_LARGE_INTESTINE	89685270	89685314	89685305	89685305	Missense_Mutation	T	A	p.I67K
SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89685270	89685314	89685307	89685307	Missense_Mutation	T	C	p.Y68H
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89690803	89690846	89690807	89690807	Missense_Mutation	G	A	p.A72T
CORL32_LUNG	89711875	89712016	89711881	89711881	Missense_Mutation	A	G	p.T167A
DKMG_CENTRAL_NERVOUS_SYSTEM	89711875	89712016	89711881	89711881	Missense_Mutation	A	G	p.T167A
SKMEL28_SKIN	89711875	89712016	89711881	89711881	Missense_Mutation	A	G	p.T167A
639V_URINARY_TRACT	89711875	89712016	89711899	89711899	Missense_Mutation	C	T	p.R173C
D423MG_CENTRAL_NERVOUS_SYSTEM	89711875	89712016	89711899	89711899	Missense_Mutation	C	T	p.R173C
LN405_CENTRAL_NERVOUS_SYSTEM	89711875	89712016	89711899	89711899	Missense_Mutation	C	T	p.R173C
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89711875	89712016	89711899	89711899	Missense_Mutation	C	T	p.R173C
RL952_ENDOMETRIUM	89711875	89712016	89711900	89711900	Missense_Mutation	G	A	p.R173H
NCCIT_TESTIS	89711875	89712016	89711900	89711900	Missense_Mutation	G	C	p.R173P
GCT_SOFT_TISSUE	89711875	89712016	89711993	89711993	Missense_Mutation	C	T	p.P204L
NCIH2286_LUNG	89717610	89717776	89717664	89717664	Missense_Mutation	G	T	p.G230V
SNU1040_LARGE_INTESTINE	89717610	89717776	89717669	89717669	Missense_Mutation	A	G	p.T232A
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717672	89717672	Missense_Mutation	C	G	p.R233G
SNU81_LARGE_INTESTINE	89717610	89717776	89717673	89717673	Missense_Mutation	G	A	p.R233Q
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89717610	89717776	89717675	89717675	Missense_Mutation	C	G	p.R234G
SNU449_LIVER	89717610	89717776	89717696	89717696	Missense_Mutation	T	C	p.F241L
SNUC4_LARGE_INTESTINE	89717610	89717776	89717697	89717697	Missense_Mutation	T	C	p.F241S
JHUEM7_ENDOMETRIUM	89717610	89717776	89717702	89717702	Missense_Mutation	T	G	p.F243V
HEC59_ENDOMETRIUM	89717610	89717776	89717712	89717712	Missense_Mutation	C	T	p.P246L
SNU1040_LARGE_INTESTINE	89717610	89717776	89717723	89717723	Missense_Mutation	T	C	p.C250R
NCIH1339_LUNG	89717610	89717776	89717726	89717726	Missense_Mutation	G	T	p.G251C
CAL148_BREAST	89717610	89717776	89717733	89717733	Missense_Mutation	T	A	p.I253N
LN382_CENTRAL_NERVOUS_SYSTEM	89711875	89712016	89711910	89711910	Nonsense_Mutation	T	G	p.Y176*
NCIH1770_LUNG	89711875	89712016	89711913	89711913	Nonsense_Mutation	T	A	p.Y177*
NCIH2106_LUNG	89711875	89712016	89711913	89711913	Nonsense_Mutation	T	A	p.Y177*
D392MG_CENTRAL_NERVOUS_SYSTEM	89711875	89712016	89711971	89711971	Nonsense_Mutation	A	T	p.K197*
C33A_CERVIX	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
HEC59_ENDOMETRIUM	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
SF295_CENTRAL_NERVOUS_SYSTEM	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
JHUEM1_ENDOMETRIUM	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
SW1783_CENTRAL_NERVOUS_SYSTEM	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
NCIH1155_LUNG	89717610	89717776	89717672	89717672	Nonsense_Mutation	C	T	p.R233*
OSRC2_KIDNEY	89711875	89712016	89712013	89712028	Splice_Site	TGCAGTAAGTGCTTGA	-	p.CS211fs

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

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 PTEN

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

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RelatedDrugs for PTEN

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 PTEN

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PTEN	C0018553	Hamartoma Syndrome, Multiple	29	CTD_human;ORPHANET;UNIPROT
PTEN	C0033578	Prostatic Neoplasms	11	CTD_human
PTEN	C0265326	Bannayan-Riley-Ruvalcaba Syndrome	6	ORPHANET;UNIPROT
PTEN	C0376634	Craniofacial Abnormalities	6	CTD_human
PTEN	C3714756	Intellectual Disability	5	CTD_human;HPO
PTEN	C0004352	Autistic Disorder	4	CTD_human;HPO
PTEN	C0014170	Endometrial Neoplasms	4	CTD_human
PTEN	C1458155	Mammary Neoplasms	4	CTD_human;HPO
PTEN	C0008073	Developmental Disabilities	3	CTD_human
PTEN	C0025202	melanoma	3	CTD_human;HPO
PTEN	C0085261	Proteus Syndrome	3	CTD_human;ORPHANET
PTEN	C0376358	Malignant neoplasm of prostate	3	UNIPROT
PTEN	C0282612	Prostatic Intraepithelial Neoplasias	2	CTD_human
PTEN	C1168401	Squamous cell carcinoma of the head and neck	2	CTD_human;ORPHANET;UNIPROT
PTEN	C1854416	MACROCEPHALY/AUTISM SYNDROME	2	CTD_human;ORPHANET;UNIPROT
PTEN	C0001418	Adenocarcinoma	1	CTD_human
PTEN	C0003081	Anisometropia	1	CTD_human
PTEN	C0004096	Asthma	1	CTD_human
PTEN	C0007134	Renal Cell Carcinoma	1	CTD_human
PTEN	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
PTEN	C0014173	Endometrial Hyperplasia	1	CTD_human
PTEN	C0015695	Fatty Liver	1	CTD_human
PTEN	C0017638	Glioma	1	CTD_human
PTEN	C0018916	Hemangioma	1	CTD_human;HPO
PTEN	C0020538	Hypertensive disease	1	CTD_human
PTEN	C0020564	Hypertrophy	1	CTD_human
PTEN	C0021655	Insulin Resistance	1	CTD_human
PTEN	C0023014	Language Development Disorders	1	CTD_human
PTEN	C0023418	leukemia	1	CTD_human
PTEN	C0023798	Lipoma	1	CTD_human;HPO
PTEN	C0023801	Lipomatosis	1	CTD_human
PTEN	C0023976	Long QT Syndrome	1	CTD_human
PTEN	C0024121	Lung Neoplasms	1	CTD_human
PTEN	C0024299	Lymphoma	1	CTD_human
PTEN	C0025286	Meningioma	1	CTD_human;HPO
PTEN	C0026613	Motor Skills Disorders	1	CTD_human
PTEN	C0027055	Myocardial Reperfusion Injury	1	CTD_human
PTEN	C0027626	Neoplasm Invasiveness	1	CTD_human
PTEN	C0027627	Neoplasm Metastasis	1	CTD_human
PTEN	C0030297	Pancreatic Neoplasm	1	CTD_human
PTEN	C0035126	Reperfusion Injury	1	CTD_human
PTEN	C0036920	Sezary Syndrome	1	CTD_human
PTEN	C0037274	Dermatologic disorders	1	CTD_human
PTEN	C0149925	Small cell carcinoma of lung	1	CTD_human
PTEN	C0152427	Polydactyly	1	CTD_human
PTEN	C0175704	LEOPARD Syndrome	1	CTD_human
PTEN	C0206669	Hepatocellular Adenoma	1	CTD_human
PTEN	C0206698	Cholangiocarcinoma	1	CTD_human
PTEN	C0476089	Endometrial Carcinoma	1	HPO;UNIPROT
PTEN	C0919267	ovarian neoplasm	1	CTD_human;HPO
PTEN	C1848599	VACTERL Association With Hydrocephalus	1	CTD_human
PTEN	C2239176	Liver carcinoma	1	CTD_human
PTEN	C2751642	GLIOMA SUSCEPTIBILITY 2	1	UNIPROT
PTEN	C2931822	Nasopharyngeal carcinoma	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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Gene summary for PTEN

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

Gene isoform structures and expression levels for PTEN

Exon skipping events with PSIs in TCGA for PTEN

Exon skipping events with PSIs in GTEx for PTEN

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

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

SNVs in the skipped exons for PTEN

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

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

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

RelatedDrugs for PTEN

RelatedDiseases for PTEN