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	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

Gene summary for ETV4

Gene summary

Gene information	Gene symbol	ETV4
	Gene ID	2118
	Gene name	ETS variant 4
	Synonyms	E1A-F|E1AF|PEA3|PEAS3
	Cytomap	17q21.31
	Type of gene	protein-coding
	Description	ETS translocation variant 4EWS protein/E1A enhancer binding protein chimeraadenovirus E1A enhancer-binding proteinets variant gene 4 (E1A enhancer-binding protein, E1AF)polyomavirus enhancer activator 3 homolog
	Modification date	20180523
	UniProtAcc	P43268
	Context	PubMed: ETV4 [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
ETV4	GO:0045944	positive regulation of transcription by RNA polymerase II	24983502

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Exon skipping events across known transcript of Ensembl for ETV4 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 ETV4

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 ETV4

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_290211	17	41606871:41607044:41607251:41607320:41607474:41607549	41607251:41607320	ENSG00000175832.8	ENST00000538265.1,ENST00000591713.1,ENST00000393664.2,ENST00000545089.1,ENST00000319349.5,ENST00000545954.1,ENST00000586826.1
exon_skip_290216	17	41607251:41607320:41607474:41607549:41610041:41610307	41607474:41607549	ENSG00000175832.8	ENST00000538265.1,ENST00000591713.1,ENST00000393664.2,ENST00000545089.1,ENST00000319349.5,ENST00000545954.1
exon_skip_290222	17	41607489:41607549:41610041:41610307:41610554:41610627	41610041:41610307	ENSG00000175832.8	ENST00000538265.1,ENST00000591713.1,ENST00000393664.2,ENST00000319349.5,ENST00000545954.1
exon_skip_290223	17	41607539:41607549:41610041:41610307:41611226:41611350	41610041:41610307	ENSG00000175832.8	ENST00000545089.1
exon_skip_290233	17	41610297:41610307:41610554:41610716:41611226:41611350	41610554:41610716	ENSG00000175832.8	ENST00000590236.1,ENST00000538265.1,ENST00000591713.1,ENST00000393664.2,ENST00000319349.5,ENST00000545954.1
exon_skip_290235	17	41610711:41610716:41611226:41611353:41613793:41613847	41611226:41611353	ENSG00000175832.8	ENST00000590236.1,ENST00000538265.1,ENST00000591713.1,ENST00000393664.2,ENST00000585508.1,ENST00000319349.5,ENST00000545954.1
exon_skip_290241	17	41613793:41613847:41621247:41621333:41622342:41622379	41621247:41621333	ENSG00000175832.8	ENST00000590236.1
exon_skip_290243	17	41613793:41613847:41622342:41622390:41622641:41622735	41622342:41622390	ENSG00000175832.8	ENST00000538265.1,ENST00000591713.1,ENST00000393664.2,ENST00000585508.1,ENST00000587151.1,ENST00000545089.1,ENST00000319349.5,ENST00000545954.1
exon_skip_290245	17	41622343:41622390:41622641:41622735:41623552:41623683	41622641:41622735	ENSG00000175832.8	ENST00000545954.1
exon_skip_290247	17	41622343:41622390:41622641:41623036:41623552:41623683	41622641:41623036	ENSG00000175832.8	ENST00000585508.1
exon_skip_290249	17	41622641:41622735:41622925:41623036:41623228:41623267	41622925:41623036	ENSG00000175832.8	ENST00000591713.1,ENST00000587151.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ETV4

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_290222	17	41607489:41607549:41610041:41610307:41610554:41610627	41610041:41610307	ENSG00000175832.8	ENST00000319349.5,ENST00000393664.2,ENST00000538265.1,ENST00000545954.1,ENST00000591713.1
exon_skip_290223	17	41607539:41607549:41610041:41610307:41611226:41611350	41610041:41610307	ENSG00000175832.8	ENST00000545089.1
exon_skip_290233	17	41610297:41610307:41610554:41610716:41611226:41611350	41610554:41610716	ENSG00000175832.8	ENST00000319349.5,ENST00000393664.2,ENST00000538265.1,ENST00000545954.1,ENST00000591713.1,ENST00000590236.1
exon_skip_290235	17	41610711:41610716:41611226:41611353:41613793:41613847	41611226:41611353	ENSG00000175832.8	ENST00000319349.5,ENST00000393664.2,ENST00000538265.1,ENST00000545954.1,ENST00000591713.1,ENST00000590236.1,ENST00000585508.1
exon_skip_290241	17	41613793:41613847:41621247:41621333:41622342:41622379	41621247:41621333	ENSG00000175832.8	ENST00000590236.1
exon_skip_290243	17	41613793:41613847:41622342:41622390:41622641:41622735	41622342:41622390	ENSG00000175832.8	ENST00000319349.5,ENST00000393664.2,ENST00000538265.1,ENST00000545954.1,ENST00000545089.1,ENST00000591713.1,ENST00000585508.1,ENST00000587151.1
exon_skip_290245	17	41622343:41622390:41622641:41622735:41623552:41623683	41622641:41622735	ENSG00000175832.8	ENST00000545954.1
exon_skip_290247	17	41622343:41622390:41622641:41623036:41623552:41623683	41622641:41623036	ENSG00000175832.8	ENST00000585508.1
exon_skip_290249	17	41622641:41622735:41622925:41623036:41623228:41623267	41622925:41623036	ENSG00000175832.8	ENST00000591713.1,ENST00000587151.1

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 ETV4

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
ENST00000591713	41622925	41623036	3UTR-3CDS
ENST00000319349	41610041	41610307	Frame-shift
ENST00000393664	41610041	41610307	Frame-shift
ENST00000591713	41610041	41610307	Frame-shift
ENST00000319349	41611226	41611353	Frame-shift
ENST00000393664	41611226	41611353	Frame-shift
ENST00000591713	41611226	41611353	Frame-shift
ENST00000319349	41607251	41607320	In-frame
ENST00000393664	41607251	41607320	In-frame
ENST00000591713	41607251	41607320	In-frame
ENST00000319349	41607474	41607549	In-frame
ENST00000393664	41607474	41607549	In-frame
ENST00000591713	41607474	41607549	In-frame
ENST00000319349	41610554	41610716	In-frame
ENST00000393664	41610554	41610716	In-frame
ENST00000591713	41610554	41610716	In-frame
ENST00000319349	41622342	41622390	In-frame
ENST00000393664	41622342	41622390	In-frame
ENST00000591713	41622342	41622390	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
ENST00000591713	41622925	41623036	3UTR-3CDS
ENST00000319349	41610041	41610307	Frame-shift
ENST00000393664	41610041	41610307	Frame-shift
ENST00000591713	41610041	41610307	Frame-shift
ENST00000319349	41611226	41611353	Frame-shift
ENST00000393664	41611226	41611353	Frame-shift
ENST00000591713	41611226	41611353	Frame-shift
ENST00000319349	41610554	41610716	In-frame
ENST00000393664	41610554	41610716	In-frame
ENST00000591713	41610554	41610716	In-frame
ENST00000319349	41622342	41622390	In-frame
ENST00000393664	41622342	41622390	In-frame
ENST00000591713	41622342	41622390	In-frame

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Infer the effects of exon skipping event on protein functional features for ETV4

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
ENST00000319349	2446	484	41622342	41622390	454	501	51	67
ENST00000393664	2199	484	41622342	41622390	209	256	51	67
ENST00000591713	1744	484	41622342	41622390	245	292	51	67
ENST00000319349	2446	484	41610554	41610716	683	844	128	181
ENST00000393664	2199	484	41610554	41610716	438	599	128	181
ENST00000591713	1744	484	41610554	41610716	474	635	128	181
ENST00000319349	2446	484	41607474	41607549	1111	1185	270	295
ENST00000393664	2199	484	41607474	41607549	866	940	270	295
ENST00000591713	1744	484	41607474	41607549	902	976	270	295
ENST00000319349	2446	484	41607251	41607320	1186	1254	295	318
ENST00000393664	2199	484	41607251	41607320	941	1009	295	318
ENST00000591713	1744	484	41607251	41607320	977	1045	295	318

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
ENST00000319349	2446	484	41622342	41622390	454	501	51	67
ENST00000393664	2199	484	41622342	41622390	209	256	51	67
ENST00000591713	1744	484	41622342	41622390	245	292	51	67
ENST00000319349	2446	484	41610554	41610716	683	844	128	181
ENST00000393664	2199	484	41610554	41610716	438	599	128	181
ENST00000591713	1744	484	41610554	41610716	474	635	128	181

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
P43268	51	67	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	51	67	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	51	67	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	51	67	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	51	67	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	51	67	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	51	67	49	75	Compositional bias	Note=Asp/Glu-rich (acidic)
P43268	51	67	49	75	Compositional bias	Note=Asp/Glu-rich (acidic)
P43268	51	67	49	75	Compositional bias	Note=Asp/Glu-rich (acidic)
P43268	128	181	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	128	181	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	128	181	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	128	181	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	128	181	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	128	181	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	128	181	148	244	Compositional bias	Note=Gln-rich
P43268	128	181	148	244	Compositional bias	Note=Gln-rich
P43268	128	181	148	244	Compositional bias	Note=Gln-rich
P43268	128	181	139	139	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
P43268	128	181	139	139	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
P43268	128	181	139	139	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
P43268	128	181	140	140	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P43268	128	181	140	140	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P43268	128	181	140	140	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P43268	128	181	149	149	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P43268	128	181	149	149	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P43268	128	181	149	149	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P43268	270	295	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	270	295	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	270	295	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	270	295	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	270	295	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	270	295	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	295	318	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	295	318	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	295	318	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4

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
P43268	51	67	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	51	67	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	51	67	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	51	67	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	51	67	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	51	67	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	51	67	49	75	Compositional bias	Note=Asp/Glu-rich (acidic)
P43268	51	67	49	75	Compositional bias	Note=Asp/Glu-rich (acidic)
P43268	51	67	49	75	Compositional bias	Note=Asp/Glu-rich (acidic)
P43268	128	181	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	128	181	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	128	181	1	277	Alternative sequence	ID=VSP_055314;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P43268	128	181	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	128	181	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	128	181	1	484	Chain	ID=PRO_0000204116;Note=ETS translocation variant 4
P43268	128	181	148	244	Compositional bias	Note=Gln-rich
P43268	128	181	148	244	Compositional bias	Note=Gln-rich
P43268	128	181	148	244	Compositional bias	Note=Gln-rich
P43268	128	181	139	139	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
P43268	128	181	139	139	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
P43268	128	181	139	139	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
P43268	128	181	140	140	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P43268	128	181	140	140	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P43268	128	181	140	140	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P43268	128	181	149	149	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P43268	128	181	149	149	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P43268	128	181	149	149	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163

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SNVs in the skipped exons for ETV4

- 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.

ETV4_COAD_exon_skip_290233_psi_boxplot.png

ETV4_LIHC_exon_skip_290233_psi_boxplot.png

ETV4_LUAD_exon_skip_290233_psi_boxplot.png

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A1EG-01	exon_skip_290222 exon_skip_290223	41610042	41610307	41610189	41610189	Frame_Shift_Del	G	-	p.Q223fs
LIHC	TCGA-DD-A3A0-01	exon_skip_290233	41610555	41610716	41610562	41610562	Frame_Shift_Del	C	-	p.E180fs
LIHC	TCGA-DD-A1EG-01	exon_skip_290233	41610555	41610716	41610615	41610615	Frame_Shift_Del	A	-	p.F162fs
LIHC	TCGA-DD-A1EG-01	exon_skip_290233	41610555	41610716	41610664	41610664	Frame_Shift_Del	G	-	p.L146fs
STAD	TCGA-HU-A4GX-01	exon_skip_290233	41610555	41610716	41610701	41610701	Frame_Shift_Del	G	-	p.R134fs
UCEC	TCGA-D1-A177-01	exon_skip_290233	41610555	41610716	41610701	41610701	Frame_Shift_Del	G	-	p.P133fs
COAD	TCGA-A6-5665-01	exon_skip_290233	41610555	41610716	41610700	41610701	Frame_Shift_Ins	-	G	p.R134fs
COAD	TCGA-G4-6309-01	exon_skip_290233	41610555	41610716	41610700	41610701	Frame_Shift_Ins	-	G	p.R134fs
KIRC	TCGA-A3-3313-01	exon_skip_290233	41610555	41610716	41610700	41610701	Frame_Shift_Ins	-	G	p.T134fs
KIRC	TCGA-A3-3322-01	exon_skip_290233	41610555	41610716	41610700	41610701	Frame_Shift_Ins	-	G	p.T134fs
KIRC	TCGA-A3-3363-01	exon_skip_290233	41610555	41610716	41610700	41610701	Frame_Shift_Ins	-	G	p.T134fs
KIRC	TCGA-A3-3380-01	exon_skip_290233	41610555	41610716	41610700	41610701	Frame_Shift_Ins	-	G	p.T134fs
KIRC	TCGA-AS-3778-01	exon_skip_290233	41610555	41610716	41610700	41610701	Frame_Shift_Ins	-	G	p.T134fs
LUAD	TCGA-44-2668-01	exon_skip_290233	41610555	41610716	41610700	41610701	Frame_Shift_Ins	-	G	p.T134fs
STAD	TCGA-BR-4361-01	exon_skip_290233	41610555	41610716	41610701	41610702	Frame_Shift_Ins	-	G	p.P133fs
UCEC	TCGA-AP-A056-01	exon_skip_290211	41607252	41607320	41607297	41607297	Nonsense_Mutation	G	A	p.R304*
BLCA	TCGA-DK-AA71-01	exon_skip_290245	41622642	41622735	41622708	41622708	Nonsense_Mutation	C	A	p.E30*
BLCA	TCGA-DK-AA71-01	exon_skip_290247	41622642	41623036	41622708	41622708	Nonsense_Mutation	C	A	p.E30*
HNSC	TCGA-BA-4077-01	exon_skip_290245	41622642	41622735	41622708	41622708	Nonsense_Mutation	C	A	p.E30*
HNSC	TCGA-BA-4077-01	exon_skip_290247	41622642	41623036	41622708	41622708	Nonsense_Mutation	C	A	p.E30*
KIRC	TCGA-B2-4101-01	exon_skip_290222 exon_skip_290223	41610042	41610307	41610308	41610308	Splice_Site	C	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-A6-5665-01
	Cancer type: COAD
	ESID: exon_skip_290233
	Skipped exon start: 41610555
	Skipped exon end: 41610716
	Mutation start: 41610700
	Mutation end: 41610701
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.R134fs
exon_skip_11611_COAD_TCGA-A6-5665-01.png
exon_skip_11615_COAD_TCGA-A6-5665-01.png
exon_skip_11638_COAD_TCGA-A6-5665-01.png
exon_skip_11641_COAD_TCGA-A6-5665-01.png
exon_skip_141199_COAD_TCGA-A6-5665-01.png
exon_skip_145709_COAD_TCGA-A6-5665-01.png
exon_skip_290233_COAD_TCGA-A6-5665-01.png
exon_skip_297638_COAD_TCGA-A6-5665-01.png
exon_skip_303317_COAD_TCGA-A6-5665-01.png
exon_skip_339648_COAD_TCGA-A6-5665-01.png
exon_skip_347690_COAD_TCGA-A6-5665-01.png
exon_skip_389258_COAD_TCGA-A6-5665-01.png
exon_skip_389265_COAD_TCGA-A6-5665-01.png
exon_skip_434039_COAD_TCGA-A6-5665-01.png
exon_skip_434040_COAD_TCGA-A6-5665-01.png
exon_skip_438605_COAD_TCGA-A6-5665-01.png
exon_skip_91135_COAD_TCGA-A6-5665-01.png
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_290223
	Skipped exon start: 41610042
	Skipped exon end: 41610307
	Mutation start: 41610189
	Mutation end: 41610189
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q223fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_290233
	Skipped exon start: 41610555
	Skipped exon end: 41610716
	Mutation start: 41610615
	Mutation end: 41610615
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F162fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_290233
	Skipped exon start: 41610555
	Skipped exon end: 41610716
	Mutation start: 41610664
	Mutation end: 41610664
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L146fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png
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	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_290223
	Skipped exon start: 41610042
	Skipped exon end: 41610307
	Mutation start: 41610189
	Mutation end: 41610189
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q223fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_290233
	Skipped exon start: 41610555
	Skipped exon end: 41610716
	Mutation start: 41610615
	Mutation end: 41610615
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F162fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_290233
	Skipped exon start: 41610555
	Skipped exon end: 41610716
	Mutation start: 41610664
	Mutation end: 41610664
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L146fs
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	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_290223
	Skipped exon start: 41610042
	Skipped exon end: 41610307
	Mutation start: 41610189
	Mutation end: 41610189
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q223fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_290233
	Skipped exon start: 41610555
	Skipped exon end: 41610716
	Mutation start: 41610615
	Mutation end: 41610615
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F162fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_290233
	Skipped exon start: 41610555
	Skipped exon end: 41610716
	Mutation start: 41610664
	Mutation end: 41610664
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L146fs
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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

- 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
HCT15_LARGE_INTESTINE	41622642	41623036	41622935	41622942	Frame_Shift_Del	GGTGTAGG	-	p.PYT15fs
HCT15_LARGE_INTESTINE	41622926	41623036	41622935	41622942	Frame_Shift_Del	GGTGTAGG	-	p.PYT15fs
HCT15_LARGE_INTESTINE	41622642	41623036	41622933	41622934	Frame_Shift_Ins	-	CC	p.F18fs
HCT15_LARGE_INTESTINE	41622926	41623036	41622933	41622934	Frame_Shift_Ins	-	CC	p.F18fs
HEC59_ENDOMETRIUM	41607252	41607320	41607279	41607279	Missense_Mutation	C	T	p.V310I
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41607475	41607549	41607543	41607543	Missense_Mutation	G	A	p.T273I
OSC20_UPPER_AERODIGESTIVE_TRACT	41610042	41610307	41610107	41610107	Missense_Mutation	C	T	p.G249E
OCUBM_BREAST	41610042	41610307	41610246	41610246	Missense_Mutation	C	T	p.E203K
C125PM_LARGE_INTESTINE	41610555	41610716	41610621	41610621	Missense_Mutation	C	T	p.R160Q
SNU349_KIDNEY	41610555	41610716	41610621	41610621	Missense_Mutation	C	T	p.R160Q
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41610555	41610716	41610621	41610621	Missense_Mutation	C	A	p.R160L
SNU1040_LARGE_INTESTINE	41610555	41610716	41610691	41610691	Missense_Mutation	C	T	p.A137T
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41611227	41611353	41611261	41611261	Missense_Mutation	G	A	p.P117S
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	41611227	41611353	41611278	41611278	Missense_Mutation	C	T	p.S111N
EWS502_BONE	41611227	41611353	41611315	41611315	Missense_Mutation	G	T	p.P99T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41622343	41622390	41622357	41622357	Missense_Mutation	G	A	p.T63M
MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41622343	41622390	41622373	41622373	Missense_Mutation	T	G	p.S58R
GSS_STOMACH	41622642	41623036	41622936	41622936	Missense_Mutation	G	C	p.T17S
GSS_STOMACH	41622926	41623036	41622936	41622936	Missense_Mutation	G	C	p.T17S
SNU1040_LARGE_INTESTINE	41622642	41623036	41622940	41622940	Missense_Mutation	A	G	p.Y16H
SNU1040_LARGE_INTESTINE	41622926	41623036	41622940	41622940	Missense_Mutation	A	G	p.Y16H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ETV4

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_290245	17	41622343:41622390:41622641:41622735:41623552:41623683	41622641:41622735	ENST00000545954.1	ESCA	rs2271959	chr17:41622740	G/T	1.14e-04
exon_skip_290245	17	41622343:41622390:41622641:41622735:41623552:41623683	41622641:41622735	ENST00000545954.1	READ	rs2271959	chr17:41622740	G/T	7.82e-05
exon_skip_290245	17	41622343:41622390:41622641:41622735:41623552:41623683	41622641:41622735	ENST00000545954.1	TGCT	rs2271959	chr17:41622740	G/T	3.00e-04
exon_skip_290245	17	41622343:41622390:41622641:41622735:41623552:41623683	41622641:41622735	ENST00000545954.1	STAD	rs2271959	chr17:41622740	G/T	2.52e-05
exon_skip_290247	17	41622343:41622390:41622641:41623036:41623552:41623683	41622641:41623036	ENST00000585508.1	ESCA	rs2271959	chr17:41622740	G/T	1.14e-04
exon_skip_290247	17	41622343:41622390:41622641:41623036:41623552:41623683	41622641:41623036	ENST00000585508.1	READ	rs2271959	chr17:41622740	G/T	7.82e-05
exon_skip_290247	17	41622343:41622390:41622641:41623036:41623552:41623683	41622641:41623036	ENST00000585508.1	TGCT	rs2271959	chr17:41622740	G/T	3.00e-04
exon_skip_290247	17	41622343:41622390:41622641:41623036:41623552:41623683	41622641:41623036	ENST00000585508.1	STAD	rs2271959	chr17:41622740	G/T	2.52e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ETV4

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ETV4

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RelatedDrugs for ETV4

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 ETV4

Diseases associated with this gene. (DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ETV4	C0027627	Neoplasm Metastasis	1	CTD_human
ETV4	C0033578	Prostatic Neoplasms	1	CTD_human
ETV4	C1458155	Mammary Neoplasms	1	CTD_human

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