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	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	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 transcription factor 4
	Synonyms	E1A-F|E1AF|PEA3|PEAS3
	Cytomap	17q21.31
	Type of gene	protein-coding
	Description	ETS translocation variant 4ETS 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	20200313
	UniProtAcc	B7Z5F4, D3DX44, K7EMW0, P43268,
	Context

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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Gene structures and expression levels for ETV4

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000175832

Differentially expressed gene analysis across multiple brain tissues between AD and control.

***cutpoints = c(0, 0.0001, 0.001, 0.01, 1), symbols = c("****", "***", "**", "ns")

Tissue type	DEG direction	Base mean exp.	log2FC(AD/control)	P-value	Adj. p-value
TC	UP	7.579049e+01	9.817434e-01	4.662078e-09	2.334296e-07

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
DLPFC	UP	ENST00000319349.10	ETV4-201:protein_coding:ETV4	1.462152e+01	1.442171e+00	2.091764e-04	1.153087e-02
TC	UP	ENST00000319349.10	ETV4-201:protein_coding:ETV4	3.046051e+01	2.238044e+00	4.194510e-07	1.998545e-05
TC	UP	ENST00000545954.5	ETV4-205:protein_coding:ETV4	2.504725e+00	2.117741e+00	9.546433e-04	9.552405e-03

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ETV4

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_18942	chr17	43530107:43530181:43532674:43532939:43533187:43533348	43532674:43532939
exon_skip_190300	chr17	43545274:43545367:43545558:43545668:43546185:43546315	43545558:43545668
exon_skip_199160	chr17	43532930:43532939:43533187:43533348:43533859:43533985	43533187:43533348
exon_skip_21667	chr17	43545274:43545367:43545558:43545668:43546185:43546323	43545558:43545668
exon_skip_227913	chr17	43530122:43530181:43532674:43532939:43533187:43533348	43532674:43532939
exon_skip_252598	chr17	43545274:43545367:43545558:43545668:43545861:43545899	43545558:43545668
exon_skip_256309	chr17	43536426:43536479:43544975:43545022:43545274:43545367	43544975:43545022
exon_skip_39054	chr17	43545274:43545367:43545558:43545668:43545861:43545937	43545558:43545668
exon_skip_95387	chr17	43532674:43532939:43533187:43533348:43533859:43533985	43533187:43533348

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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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 ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000319349	43545558	43545668	3UTR-3CDS
ENST00000591713	43545558	43545668	3UTR-3CDS
ENST00000319349	43533187	43533348	In-frame
ENST00000393664	43533187	43533348	In-frame
ENST00000591713	43533187	43533348	In-frame

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000319349	43532674	43532939	Frame-shift
ENST00000393664	43532674	43532939	Frame-shift
ENST00000591713	43532674	43532939	Frame-shift

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000319349	43545558	43545668	3UTR-3CDS
ENST00000591713	43545558	43545668	3UTR-3CDS
ENST00000319349	43532674	43532939	Frame-shift
ENST00000393664	43532674	43532939	Frame-shift
ENST00000591713	43532674	43532939	Frame-shift
ENST00000319349	43533187	43533348	In-frame
ENST00000393664	43533187	43533348	In-frame
ENST00000591713	43533187	43533348	In-frame
ENST00000319349	43544975	43545022	In-frame
ENST00000393664	43544975	43545022	In-frame
ENST00000591713	43544975	43545022	In-frame

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

p-ENSG00000175832_img4.png

Loci of skipped exons in ROSMAP 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	43533187	43533348	683	843	128	181
ENST00000393664	2199	484	43533187	43533348	438	598	128	181
ENST00000591713	1744	484	43533187	43533348	474	634	128	181

Loci of skipped exons in MSBB 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 Mayo 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	43544975	43545022	454	500	51	67
ENST00000393664	2199	484	43544975	43545022	209	255	51	67
ENST00000591713	1744	484	43544975	43545022	245	291	51	67
ENST00000319349	2446	484	43533187	43533348	683	843	128	181
ENST00000393664	2199	484	43533187	43533348	438	598	128	181
ENST00000591713	1744	484	43533187	43533348	474	634	128	181

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

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	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

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

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 Mayo.

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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3'-UTR located exon skipping events that lost miRNA binding sites in ETV4

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for ETV4

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for ETV4

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for ETV4

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for ETV4

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

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

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