ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ETV1

Gene summary

Gene information	Gene symbol	ETV1
	Gene ID	2115
	Gene name	ETS variant transcription factor 1
	Synonyms	ER81
	Cytomap	7p21.2
	Type of gene	protein-coding
	Description	ETS translocation variant 1ETS variant 1ets variant gene 1ets-related protein 81
	Modification date	20200313
	UniProtAcc	A0A024R9Z3, A0A024R9Z5, A0A024RA02, B5MCT2, C9J0B7, C9J4P4, C9J9L1, C9JQH6, C9JX69, F8WEH6, P50549,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
ETV1	GO:0045944	positive regulation of transcription by RNA polymerase II	12750007

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Gene structures and expression levels for ETV1

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.

ENSG00000006468

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

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

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
CB	UP	ENST00000476355.5	ETV1-218:retained_intron:ETV1	8.183285e+01	9.386273e-01	6.162053e-11	4.235183e-09
CB	UP	ENST00000497115.5	ETV1-223:lncRNA:ETV1	9.091553e+00	1.254312e+00	8.579936e-06	9.287858e-05
CB	UP	ENST00000405218.6	ETV1-206:protein_coding:ETV1	1.888642e+02	1.128590e+00	2.217389e-05	2.065419e-04
CB	UP	ENST00000443137.5	ETV1-214:nonsense_mediated_decay:ETV1	8.797002e+00	8.768953e-01	1.597286e-04	1.102254e-03
CB	UP	ENST00000242066.9	ETV1-201:protein_coding:ETV1	5.116567e+02	9.024518e-01	1.883984e-04	1.264808e-03
CB	UP	ENST00000403527.5	ETV1-203:protein_coding:ETV1	4.569600e+02	1.184858e+00	5.223355e-04	2.990266e-03
TC	DOWN	ENST00000399357.7	ETV1-202:protein_coding:ETV1	1.592685e+02	-2.002864e+00	4.127217e-06	1.277218e-04
TC	DOWN	ENST00000420159.6	ETV1-208:protein_coding:ETV1	2.490433e+01	-3.126746e+00	6.678130e-03	4.153942e-02

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 ETV1

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_131458	chr7	13911282:13911307:13931502:13931749:13939117:13939246	13931502:13931749
exon_skip_140098	chr7	13939196:13939246:13986638:13986685:13988086:13988173	13986638:13986685
exon_skip_143599	chr7	13939196:13939246:13977427:13977480:13985355:13985489	13977427:13977480
exon_skip_149339	chr7	13906501:13906599:13907793:13907856:13909632:13909700	13907793:13907856
exon_skip_171738	chr7	13939117:13939246:13977427:13977480:13986638:13986685	13977427:13977480
exon_skip_181736	chr7	13931642:13931749:13935708:13935896:13939117:13939246	13935708:13935896
exon_skip_19936	chr7	13939196:13939246:13977427:13977480:13986116:13986304	13977427:13977480
exon_skip_228189	chr7	13895858:13896087:13900738:13900839:13906430:13906498	13900738:13900839
exon_skip_257456	chr7	13939117:13939246:13977427:13977480:13986116:13986452	13977427:13977480
exon_skip_269392	chr7	13909632:13909700:13911239:13911307:13931502:13931749	13911239:13911307
exon_skip_273472	chr7	13939196:13939246:13977427:13977480:13986638:13986685	13977427:13977480
exon_skip_296023	chr7	13906430:13906599:13907793:13907856:13909632:13909700	13907793:13907856
exon_skip_40820	chr7	13900738:13900839:13906430:13906599:13909632:13909700	13906430:13906599
exon_skip_51335	chr7	13906501:13906599:13909632:13909700:13931502:13931749	13909632:13909700
exon_skip_58994	chr7	13931642:13931749:13939117:13939246:13977427:13977475	13939117:13939246
exon_skip_69236	chr7	13977427:13977480:13986638:13986685:13988086:13988173	13986638:13986685
exon_skip_97240	chr7	13939196:13939246:13977427:13977480:13986116:13986441	13977427:13977480

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 ETV1

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
ENST00000405218	13906430	13906599	Frame-shift
ENST00000430479	13906430	13906599	Frame-shift
ENST00000405218	13900738	13900839	In-frame
ENST00000430479	13900738	13900839	In-frame
ENST00000405218	13911239	13911307	In-frame
ENST00000430479	13911239	13911307	In-frame
ENST00000405218	13935708	13935896	In-frame
ENST00000430479	13935708	13935896	In-frame
ENST00000405218	13977427	13977480	In-frame
ENST00000430479	13977427	13977480	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
ENST00000405218	13911239	13911307	In-frame
ENST00000430479	13911239	13911307	In-frame
ENST00000405218	13935708	13935896	In-frame
ENST00000430479	13935708	13935896	In-frame
ENST00000405218	13977427	13977480	In-frame
ENST00000430479	13977427	13977480	In-frame

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
ENST00000405218	13906430	13906599	Frame-shift
ENST00000430479	13906430	13906599	Frame-shift
ENST00000405218	13900738	13900839	In-frame
ENST00000430479	13900738	13900839	In-frame
ENST00000405218	13911239	13911307	In-frame
ENST00000430479	13911239	13911307	In-frame
ENST00000405218	13935708	13935896	In-frame
ENST00000430479	13935708	13935896	In-frame
ENST00000405218	13977427	13977480	In-frame
ENST00000430479	13977427	13977480	In-frame
ENST00000405218	13986638	13986685	In-frame
ENST00000430479	13986638	13986685	In-frame

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Infer the effects of exon skipping event on protein functional features for ETV1

p-ENSG00000006468_img4.png
boxplot

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
ENST00000405218	3408	477	13977427	13977480	654	706	60	78
ENST00000430479	6757	477	13977427	13977480	850	902	60	78
ENST00000405218	3408	477	13935708	13935896	838	1025	122	184
ENST00000430479	6757	477	13935708	13935896	1034	1221	122	184
ENST00000405218	3408	477	13911239	13911307	1275	1342	267	290
ENST00000430479	6757	477	13911239	13911307	1471	1538	267	290
ENST00000405218	3408	477	13900738	13900839	1583	1683	370	403
ENST00000430479	6757	477	13900738	13900839	1779	1879	370	403

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
ENST00000405218	3408	477	13977427	13977480	654	706	60	78
ENST00000430479	6757	477	13977427	13977480	850	902	60	78
ENST00000405218	3408	477	13935708	13935896	838	1025	122	184
ENST00000430479	6757	477	13935708	13935896	1034	1221	122	184
ENST00000405218	3408	477	13911239	13911307	1275	1342	267	290
ENST00000430479	6757	477	13911239	13911307	1471	1538	267	290

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
ENST00000405218	3408	477	13986638	13986685	606	652	44	60
ENST00000430479	6757	477	13986638	13986685	802	848	44	60
ENST00000405218	3408	477	13977427	13977480	654	706	60	78
ENST00000430479	6757	477	13977427	13977480	850	902	60	78
ENST00000405218	3408	477	13935708	13935896	838	1025	122	184
ENST00000430479	6757	477	13935708	13935896	1034	1221	122	184
ENST00000405218	3408	477	13911239	13911307	1275	1342	267	290
ENST00000430479	6757	477	13911239	13911307	1471	1538	267	290
ENST00000405218	3408	477	13900738	13900839	1583	1683	370	403
ENST00000430479	6757	477	13900738	13900839	1779	1879	370	403

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
P50549	60	78	1	60	Alternative sequence	ID=VSP_043808;Note=In isoform 4%2C isoform 5 and isoform 6. MDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAE->MLQDLSASVFFPPCSQHRTL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PM
P50549	60	78	1	60	Alternative sequence	ID=VSP_043808;Note=In isoform 4%2C isoform 5 and isoform 6. MDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAE->MLQDLSASVFFPPCSQHRTL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PM
P50549	60	78	61	79	Alternative sequence	ID=VSP_001472;Note=In isoform 2 and isoform 5. AQVPDNDEQFVPDYQAESL->V;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:7651741;Dbxref=PMID:14702039,PMID:7651741
P50549	60	78	61	79	Alternative sequence	ID=VSP_001472;Note=In isoform 2 and isoform 5. AQVPDNDEQFVPDYQAESL->V;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:7651741;Dbxref=PMID:14702039,PMID:7651741
P50549	60	78	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	60	78	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	122	184	122	184	Alternative sequence	ID=VSP_043809;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P50549	122	184	122	184	Alternative sequence	ID=VSP_043809;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P50549	122	184	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	122	184	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	122	184	127	127	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P50549	122	184	127	127	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P50549	267	290	268	290	Alternative sequence	ID=VSP_043750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P50549	267	290	268	290	Alternative sequence	ID=VSP_043750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P50549	267	290	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	267	290	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	370	403	401	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS
P50549	370	403	401	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS
P50549	370	403	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	370	403	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	370	403	335	415	DNA binding	Note=ETS;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00237
P50549	370	403	335	415	DNA binding	Note=ETS;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00237
P50549	370	403	368	379	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS
P50549	370	403	368	379	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS
P50549	370	403	386	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS
P50549	370	403	386	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS

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
P50549	60	78	1	60	Alternative sequence	ID=VSP_043808;Note=In isoform 4%2C isoform 5 and isoform 6. MDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAE->MLQDLSASVFFPPCSQHRTL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PM
P50549	60	78	1	60	Alternative sequence	ID=VSP_043808;Note=In isoform 4%2C isoform 5 and isoform 6. MDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAE->MLQDLSASVFFPPCSQHRTL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PM
P50549	60	78	61	79	Alternative sequence	ID=VSP_001472;Note=In isoform 2 and isoform 5. AQVPDNDEQFVPDYQAESL->V;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:7651741;Dbxref=PMID:14702039,PMID:7651741
P50549	60	78	61	79	Alternative sequence	ID=VSP_001472;Note=In isoform 2 and isoform 5. AQVPDNDEQFVPDYQAESL->V;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:7651741;Dbxref=PMID:14702039,PMID:7651741
P50549	60	78	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	60	78	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	122	184	122	184	Alternative sequence	ID=VSP_043809;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P50549	122	184	122	184	Alternative sequence	ID=VSP_043809;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P50549	122	184	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	122	184	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	122	184	127	127	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P50549	122	184	127	127	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P50549	267	290	268	290	Alternative sequence	ID=VSP_043750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P50549	267	290	268	290	Alternative sequence	ID=VSP_043750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P50549	267	290	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	267	290	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1

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
P50549	44	60	1	60	Alternative sequence	ID=VSP_043808;Note=In isoform 4%2C isoform 5 and isoform 6. MDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAE->MLQDLSASVFFPPCSQHRTL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PM
P50549	44	60	1	60	Alternative sequence	ID=VSP_043808;Note=In isoform 4%2C isoform 5 and isoform 6. MDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAE->MLQDLSASVFFPPCSQHRTL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PM
P50549	44	60	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	44	60	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	60	78	1	60	Alternative sequence	ID=VSP_043808;Note=In isoform 4%2C isoform 5 and isoform 6. MDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAE->MLQDLSASVFFPPCSQHRTL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PM
P50549	60	78	1	60	Alternative sequence	ID=VSP_043808;Note=In isoform 4%2C isoform 5 and isoform 6. MDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAE->MLQDLSASVFFPPCSQHRTL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PM
P50549	60	78	61	79	Alternative sequence	ID=VSP_001472;Note=In isoform 2 and isoform 5. AQVPDNDEQFVPDYQAESL->V;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:7651741;Dbxref=PMID:14702039,PMID:7651741
P50549	60	78	61	79	Alternative sequence	ID=VSP_001472;Note=In isoform 2 and isoform 5. AQVPDNDEQFVPDYQAESL->V;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:7651741;Dbxref=PMID:14702039,PMID:7651741
P50549	60	78	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	60	78	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	122	184	122	184	Alternative sequence	ID=VSP_043809;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P50549	122	184	122	184	Alternative sequence	ID=VSP_043809;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P50549	122	184	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	122	184	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	122	184	127	127	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P50549	122	184	127	127	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P50549	267	290	268	290	Alternative sequence	ID=VSP_043750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P50549	267	290	268	290	Alternative sequence	ID=VSP_043750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P50549	267	290	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	267	290	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	370	403	401	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS
P50549	370	403	401	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS
P50549	370	403	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	370	403	1	477	Chain	ID=PRO_0000204110;Note=ETS translocation variant 1
P50549	370	403	335	415	DNA binding	Note=ETS;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00237
P50549	370	403	335	415	DNA binding	Note=ETS;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00237
P50549	370	403	368	379	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS
P50549	370	403	368	379	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS
P50549	370	403	386	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS
P50549	370	403	386	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ILS

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3'-UTR located exon skipping events that lost miRNA binding sites in ETV1

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 ETV1

- 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 ETV1

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 ETV1

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 ETV1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	HNRNPK	exon_skip_181736	-5.063034e-01	1.334600e-11
CB	PCBP2	exon_skip_181736	-4.204031e-01	4.212319e-08
CB	SRSF9	exon_skip_181736	-4.798147e-01	2.039445e-10
TC	NOVA1	exon_skip_181736	-4.274487e-01	1.012599e-07

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RelatedDrugs for ETV1

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 ETV1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in 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

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Gene summary for ETV1

Gene structures and expression levels for ETV1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ETV1

Open reading frame (ORF) annotation in the exon skipping event for ETV1

Infer the effects of exon skipping event on protein functional features for ETV1

3'-UTR located exon skipping events that lost miRNA binding sites in ETV1

SNVs in the skipped exons for ETV1

AD stage-associated exon skippint events for ETV1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ETV1

Correlation with RNA binding proteins (RBPs) for ETV1

RelatedDrugs for ETV1

RelatedDiseases for ETV1