ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for EWSR1

Gene summary

Gene information	Gene symbol	EWSR1
	Gene ID	2130
	Gene name	EWS RNA binding protein 1
	Synonyms	EWS\|EWS-FLI1\|bK984G1.4
	Cytomap	22q12.2
	Type of gene	protein-coding
	Description	RNA-binding protein EWSEWS RNA-binding protein variant 6Ewing sarcoma breakpoint region 1Ewings sarcoma EWS-Fli1 (type 1) oncogene
	Modification date	20180527
	UniProtAcc	Q01844
	Context	PubMed: EWSR1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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

Gene

GO ID

GO term

PubMed ID

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Exon skipping events across known transcript of Ensembl for EWSR1 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 EWSR1

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 EWSR1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_364225	22	29664314:29664338:29668204:29668241:29668368:29668420	29668204:29668241	ENSG00000182944.13	ENST00000415761.1,ENST00000485037.1,ENST00000397938.2,ENST00000414183.2,ENST00000333395.6,ENST00000447973.1,ENST00000331029.7,ENST00000437155.2,ENST00000332035.6,ENST00000483415.1,ENST00000455726.1,ENST00000436425.1,ENST00000406548.1,ENST00000332050.6
exon_skip_364228	22	29669729:29669853:29670253:29670271:29674018:29674030	29670253:29670271	ENSG00000182944.13	ENST00000414183.2,ENST00000436425.1
exon_skip_364229	22	29669729:29669853:29670256:29670271:29674018:29674030	29670256:29670271	ENSG00000182944.13	ENST00000447973.1
exon_skip_364230	22	29669729:29669853:29674018:29674205:29678378:29678413	29674018:29674205	ENSG00000182944.13	ENST00000397938.2,ENST00000333395.6,ENST00000331029.7,ENST00000437155.2,ENST00000483415.1,ENST00000406548.1,ENST00000332050.6
exon_skip_364232	22	29674119:29674205:29678378:29678546:29682911:29683000	29678378:29678546	ENSG00000182944.13	ENST00000415761.1,ENST00000397938.2,ENST00000479135.1,ENST00000414183.2,ENST00000333395.6,ENST00000331029.7,ENST00000437155.2,ENST00000483415.1,ENST00000406548.1,ENST00000332050.6
exon_skip_364236	22	29674119:29674205:29682911:29683123:29684594:29684668	29682911:29683123	ENSG00000182944.13	ENST00000332035.6,ENST00000455726.1
exon_skip_364241	22	29682911:29683123:29684594:29684775:29687550:29687588	29684594:29684775	ENSG00000182944.13	ENST00000397938.2,ENST00000332035.6
exon_skip_364242	22	29682911:29683123:29684594:29684775:29687553:29687588	29684594:29684775	ENSG00000182944.13	ENST00000414183.2,ENST00000406548.1
exon_skip_364247	22	29682911:29683123:29684594:29687588:29688125:29688158	29684594:29687588	ENSG00000182944.13	ENST00000479135.1
exon_skip_364260	22	29684756:29684775:29687550:29687588:29688125:29688158	29687550:29687588	ENSG00000182944.13	ENST00000397938.2,ENST00000332035.6
exon_skip_364261	22	29684756:29684775:29687553:29687588:29688125:29688158	29687553:29687588	ENSG00000182944.13	ENST00000414183.2,ENST00000406548.1
exon_skip_364264	22	29688147:29688158:29688476:29688595:29692228:29692358	29688476:29688595	ENSG00000182944.13	ENST00000397938.2,ENST00000479135.1,ENST00000414183.2,ENST00000360091.3,ENST00000332035.6,ENST00000483629.1,ENST00000469669.1,ENST00000406548.1,ENST00000332050.6
exon_skip_364266	22	29692228:29692358:29693816:29693939:29694722:29694791	29693816:29693939	ENSG00000182944.13	ENST00000397938.2,ENST00000479135.1,ENST00000414183.2,ENST00000490315.1,ENST00000331029.7,ENST00000360091.3,ENST00000332035.6,ENST00000483629.1,ENST00000469669.1,ENST00000406548.1,ENST00000332050.6
exon_skip_364271	22	29694722:29694885:29695184:29695270:29695588:29695841	29695184:29695270	ENSG00000182944.13	ENST00000360091.3
exon_skip_364272	22	29694722:29694885:29695223:29695321:29695588:29695841	29695223:29695321	ENSG00000182944.13	ENST00000397938.2,ENST00000479135.1,ENST00000414183.2,ENST00000331029.7,ENST00000332035.6,ENST00000469669.1,ENST00000406548.1,ENST00000332050.6
exon_skip_364274	22	29695184:29695270:29695588:29695841:29696111:29696326	29695588:29695841	ENSG00000182944.13	ENST00000360091.3,ENST00000483629.1
exon_skip_364277	22	29695223:29695321:29695588:29695841:29696111:29696326	29695588:29695841	ENSG00000182944.13	ENST00000397938.2,ENST00000479135.1,ENST00000414183.2,ENST00000331029.7,ENST00000332035.6,ENST00000469669.1,ENST00000406548.1,ENST00000332050.6

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for EWSR1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_364225	22	29664314:29664338:29668204:29668241:29668368:29668420	29668204:29668241	ENSG00000182944.13	ENST00000332050.6,ENST00000397938.2,ENST00000436425.1,ENST00000447973.1,ENST00000485037.1,ENST00000406548.1,ENST00000437155.2,ENST00000415761.1,ENST00000331029.7,ENST00000483415.1,ENST00000414183.2,ENST00000333395.6,ENST00000455726.1,ENST00000332035.6
exon_skip_364228	22	29669729:29669853:29670253:29670271:29674018:29674030	29670253:29670271	ENSG00000182944.13	ENST00000436425.1,ENST00000414183.2
exon_skip_364229	22	29669729:29669853:29670256:29670271:29674018:29674030	29670256:29670271	ENSG00000182944.13	ENST00000447973.1
exon_skip_364230	22	29669729:29669853:29674018:29674205:29678378:29678413	29674018:29674205	ENSG00000182944.13	ENST00000332050.6,ENST00000397938.2,ENST00000406548.1,ENST00000437155.2,ENST00000331029.7,ENST00000483415.1,ENST00000333395.6
exon_skip_364232	22	29674119:29674205:29678378:29678546:29682911:29683000	29678378:29678546	ENSG00000182944.13	ENST00000332050.6,ENST00000397938.2,ENST00000406548.1,ENST00000437155.2,ENST00000415761.1,ENST00000331029.7,ENST00000483415.1,ENST00000414183.2,ENST00000333395.6,ENST00000479135.1
exon_skip_364236	22	29674119:29674205:29682911:29683123:29684594:29684668	29682911:29683123	ENSG00000182944.13	ENST00000455726.1,ENST00000332035.6
exon_skip_364241	22	29682911:29683123:29684594:29684775:29687550:29687588	29684594:29684775	ENSG00000182944.13	ENST00000397938.2,ENST00000332035.6
exon_skip_364242	22	29682911:29683123:29684594:29684775:29687553:29687588	29684594:29684775	ENSG00000182944.13	ENST00000406548.1,ENST00000414183.2
exon_skip_364247	22	29682911:29683123:29684594:29687588:29688125:29688158	29684594:29687588	ENSG00000182944.13	ENST00000479135.1
exon_skip_364260	22	29684756:29684775:29687550:29687588:29688125:29688158	29687550:29687588	ENSG00000182944.13	ENST00000397938.2,ENST00000332035.6
exon_skip_364261	22	29684756:29684775:29687553:29687588:29688125:29688158	29687553:29687588	ENSG00000182944.13	ENST00000406548.1,ENST00000414183.2
exon_skip_364264	22	29688147:29688158:29688476:29688595:29692228:29692358	29688476:29688595	ENSG00000182944.13	ENST00000332050.6,ENST00000397938.2,ENST00000406548.1,ENST00000414183.2,ENST00000332035.6,ENST00000479135.1,ENST00000469669.1,ENST00000483629.1,ENST00000360091.3
exon_skip_364266	22	29692228:29692358:29693816:29693939:29694722:29694791	29693816:29693939	ENSG00000182944.13	ENST00000332050.6,ENST00000397938.2,ENST00000406548.1,ENST00000331029.7,ENST00000414183.2,ENST00000332035.6,ENST00000479135.1,ENST00000469669.1,ENST00000483629.1,ENST00000360091.3,ENST00000490315.1
exon_skip_364271	22	29694722:29694885:29695184:29695270:29695588:29695841	29695184:29695270	ENSG00000182944.13	ENST00000360091.3
exon_skip_364272	22	29694722:29694885:29695223:29695321:29695588:29695841	29695223:29695321	ENSG00000182944.13	ENST00000332050.6,ENST00000397938.2,ENST00000406548.1,ENST00000331029.7,ENST00000414183.2,ENST00000332035.6,ENST00000479135.1,ENST00000469669.1
exon_skip_364274	22	29695184:29695270:29695588:29695841:29696111:29696326	29695588:29695841	ENSG00000182944.13	ENST00000483629.1,ENST00000360091.3
exon_skip_364277	22	29695223:29695321:29695588:29695841:29696111:29696326	29695588:29695841	ENSG00000182944.13	ENST00000332050.6,ENST00000397938.2,ENST00000406548.1,ENST00000331029.7,ENST00000414183.2,ENST00000332035.6,ENST00000479135.1,ENST00000469669.1

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 EWSR1

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
ENST00000397938	29668204	29668241	Frame-shift
ENST00000397938	29674018	29674205	Frame-shift
ENST00000397938	29684594	29684775	Frame-shift
ENST00000397938	29687550	29687588	Frame-shift
ENST00000397938	29688476	29688595	Frame-shift
ENST00000397938	29695223	29695321	Frame-shift
ENST00000397938	29695588	29695841	Frame-shift
ENST00000397938	29678378	29678546	In-frame
ENST00000397938	29693816	29693939	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
ENST00000397938	29668204	29668241	Frame-shift
ENST00000397938	29674018	29674205	Frame-shift
ENST00000397938	29684594	29684775	Frame-shift
ENST00000397938	29687550	29687588	Frame-shift
ENST00000397938	29688476	29688595	Frame-shift
ENST00000397938	29695223	29695321	Frame-shift
ENST00000397938	29695588	29695841	Frame-shift
ENST00000397938	29678378	29678546	In-frame
ENST00000397938	29693816	29693939	In-frame

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Infer the effects of exon skipping event on protein functional features for EWSR1

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
ENST00000397938	2671	656	29678378	29678546	733	900	138	193
ENST00000397938	2671	656	29693816	29693939	1614	1736	431	472

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
ENST00000397938	2671	656	29678378	29678546	733	900	138	193
ENST00000397938	2671	656	29693816	29693939	1614	1736	431	472

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
Q01844	138	193	136	191	Alternative sequence	ID=VSP_045412;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q01844	138	193	1	656	Chain	ID=PRO_0000081586;Note=RNA-binding protein EWS
Q01844	138	193	1	285	Region	Note=EAD (Gln/Pro/Thr-rich)
Q01844	138	193	8	285	Region	Note=31 X approximate tandem repeats
Q01844	138	193	126	156	Repeat	Note=14
Q01844	138	193	157	163	Repeat	Note=15
Q01844	138	193	164	170	Repeat	Note=16
Q01844	138	193	171	177	Repeat	Note=17
Q01844	138	193	178	188	Repeat	Note=18
Q01844	138	193	189	193	Repeat	Note=19
Q01844	431	472	355	656	Alternative sequence	ID=VSP_043454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q01844	431	472	441	443	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPE
Q01844	431	472	1	656	Chain	ID=PRO_0000081586;Note=RNA-binding protein EWS
Q01844	431	472	454	513	Compositional bias	Note=Arg/Gly/Pro-rich
Q01844	431	472	361	447	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q01844	431	472	439	439	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q61545
Q01844	431	472	455	455	Modified residue	Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278906;Dbxref=PMID:11278906
Q01844	431	472	464	464	Modified residue	Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278906;Dbxref=PMID:11278906
Q01844	431	472	471	471	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278906;Dbxref=PMID:11278906
Q01844	431	472	471	471	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:24129315,ECO:0000269\|PubMed:11278906;Dbxref=PMID:24129315,PMID:11278906

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
Q01844	138	193	136	191	Alternative sequence	ID=VSP_045412;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q01844	138	193	1	656	Chain	ID=PRO_0000081586;Note=RNA-binding protein EWS
Q01844	138	193	1	285	Region	Note=EAD (Gln/Pro/Thr-rich)
Q01844	138	193	8	285	Region	Note=31 X approximate tandem repeats
Q01844	138	193	126	156	Repeat	Note=14
Q01844	138	193	157	163	Repeat	Note=15
Q01844	138	193	164	170	Repeat	Note=16
Q01844	138	193	171	177	Repeat	Note=17
Q01844	138	193	178	188	Repeat	Note=18
Q01844	138	193	189	193	Repeat	Note=19
Q01844	431	472	355	656	Alternative sequence	ID=VSP_043454;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q01844	431	472	441	443	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CPE
Q01844	431	472	1	656	Chain	ID=PRO_0000081586;Note=RNA-binding protein EWS
Q01844	431	472	454	513	Compositional bias	Note=Arg/Gly/Pro-rich
Q01844	431	472	361	447	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q01844	431	472	439	439	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q61545
Q01844	431	472	455	455	Modified residue	Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278906;Dbxref=PMID:11278906
Q01844	431	472	464	464	Modified residue	Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278906;Dbxref=PMID:11278906
Q01844	431	472	471	471	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278906;Dbxref=PMID:11278906
Q01844	431	472	471	471	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:24129315,ECO:0000269\|PubMed:11278906;Dbxref=PMID:24129315,PMID:11278906

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SNVs in the skipped exons for EWSR1

- 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.

EWSR1_BRCA_exon_skip_364229_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
BRCA	TCGA-BH-A0H6-01	exon_skip_364225	29668205	29668241	29668221	29668221	Frame_Shift_Del	C	-	p.Q11fs
LIHC	TCGA-DD-A1EG-01	exon_skip_364230	29674019	29674205	29674037	29674037	Frame_Shift_Del	C	-	p.A82fs
LIHC	TCGA-DD-A3A1-01	exon_skip_364230	29674019	29674205	29674065	29674065	Frame_Shift_Del	G	-	p.Q91fs
LIHC	TCGA-DD-A1EG-01	exon_skip_364236	29682912	29683123	29683054	29683054	Frame_Shift_Del	C	-	p.P242fs
LIHC	TCGA-DD-A39Y-01	exon_skip_364236	29682912	29683123	29683054	29683054	Frame_Shift_Del	C	-	p.P242fs
LIHC	TCGA-DD-A39Y-01	exon_skip_364236	29682912	29683123	29683114	29683114	Frame_Shift_Del	G	-	p.G262fs
LIHC	TCGA-DD-A3A0-01	exon_skip_364264	29688477	29688595	29688584	29688584	Frame_Shift_Del	G	-	p.G385fs
ESCA	TCGA-L5-A43J-01	exon_skip_364266	29693817	29693939	29693886	29693886	Frame_Shift_Del	G	-	p.G461fs
ESCA	TCGA-L5-A43J-01	exon_skip_364266	29693817	29693939	29693886	29693886	Frame_Shift_Del	G	-	p.R455fs
UCS	TCGA-NA-A4QY-01	exon_skip_364272	29695224	29695321	29695296	29695296	Frame_Shift_Del	C	-	p.F551fs
UCS	TCGA-NA-A4QY-01	exon_skip_364272	29695224	29695321	29695296	29695296	Frame_Shift_Del	C	-	p.F556fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_364274 exon_skip_364277	29695589	29695841	29695660	29695660	Frame_Shift_Del	C	-	p.P584fs
COAD	TCGA-AA-3492-01	exon_skip_364274 exon_skip_364277	29695589	29695841	29695765	29695765	Frame_Shift_Del	G	-	p.P618fs
HNSC	TCGA-QK-A8Z8-01	exon_skip_364230	29674019	29674205	29674145	29674146	Frame_Shift_Ins	-	T	p.W118fs
UVM	TCGA-V4-A9EL-01	exon_skip_364230	29674019	29674205	29674050	29674050	Nonsense_Mutation	C	G	p.Y86*
UVM	TCGA-V4-A9EL-01	exon_skip_364230	29674019	29674205	29674050	29674050	Nonsense_Mutation	C	G	p.Y92X
SKCM	TCGA-EB-A44O-01	exon_skip_364236	29682912	29683123	29683075	29683075	Nonsense_Mutation	C	T	p.Q249*
SKCM	TCGA-EB-A44O-01	exon_skip_364236	29682912	29683123	29683075	29683075	Nonsense_Mutation	C	T	p.Q249X
BRCA	TCGA-A2-A0CX-01	exon_skip_364266	29693817	29693939	29693828	29693828	Nonsense_Mutation	C	T	p.Q436*
SKCM	TCGA-EE-A2MR-06	exon_skip_364266	29693817	29693939	29693828	29693828	Nonsense_Mutation	C	T	p.Q436*
SKCM	TCGA-EE-A2MR-06	exon_skip_364266	29693817	29693939	29693828	29693828	Nonsense_Mutation	C	T	p.Q441X
PAAD	TCGA-IB-8126-01	exon_skip_364274 exon_skip_364277	29695589	29695841	29695789	29695789	Nonsense_Mutation	G	T	p.E627*
BRCA	TCGA-D8-A1XW-01	exon_skip_364228 exon_skip_364229	29670257	29670271	29670255	29670255	Splice_Site	A	G	e5-2

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-D8-A1XW-01
	Cancer type: BRCA
	ESID: exon_skip_364229
	Skipped exon start: 29670257
	Skipped exon end: 29670271
	Mutation start: 29670255
	Mutation end: 29670255
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: e5-2
exon_skip_364229_BRCA_TCGA-D8-A1XW-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
EN_ENDOMETRIUM	29674019	29674205	29674037	29674037	Frame_Shift_Del	C	-	p.A82fs
JHUEM2_ENDOMETRIUM	29695589	29695841	29695765	29695765	Frame_Shift_Del	G	-	p.G620fs
SNU175_LARGE_INTESTINE	29695589	29695841	29695771	29695771	Frame_Shift_Del	C	-	p.P622fs
HEC59_ENDOMETRIUM	29674019	29674205	29674057	29674057	Missense_Mutation	C	T	p.P89S
BICR18_UPPER_AERODIGESTIVE_TRACT	29682912	29683123	29682922	29682922	Missense_Mutation	A	T	p.T198S
HCT15_LARGE_INTESTINE	29682912	29683123	29682953	29682953	Missense_Mutation	A	G	p.Y208C
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29682912	29683123	29683000	29683000	Missense_Mutation	A	C	p.S224R
BICR18_UPPER_AERODIGESTIVE_TRACT	29682912	29683123	29683000	29683000	Missense_Mutation	A	C	p.S224R
FU97_STOMACH	29682912	29683123	29683017	29683017	Missense_Mutation	A	T	p.Q229H
JHUEM7_ENDOMETRIUM	29682912	29683123	29683091	29683091	Missense_Mutation	A	C	p.Y254S
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29682912	29683123	29683109	29683109	Missense_Mutation	G	A	p.S260N
SH4_SKIN	29684595	29684775	29684623	29684623	Missense_Mutation	C	G	p.S274R
SH4_SKIN	29684595	29687588	29684623	29684623	Missense_Mutation	C	G	p.S274R
BICR18_UPPER_AERODIGESTIVE_TRACT	29684595	29684775	29684681	29684681	Missense_Mutation	A	T	p.M294L
BICR18_UPPER_AERODIGESTIVE_TRACT	29684595	29687588	29684681	29684681	Missense_Mutation	A	T	p.M294L
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29684775	29684681	29684681	Missense_Mutation	A	T	p.M294L
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29687588	29684681	29684681	Missense_Mutation	A	T	p.M294L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29684775	29684681	29684681	Missense_Mutation	A	T	p.M294L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29687588	29684681	29684681	Missense_Mutation	A	T	p.M294L
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29684775	29684681	29684681	Missense_Mutation	A	T	p.M294L
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29687588	29684681	29684681	Missense_Mutation	A	T	p.M294L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29684775	29684726	29684726	Missense_Mutation	C	T	p.R309C
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29687588	29684726	29684726	Missense_Mutation	C	T	p.R309C
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29684775	29684732	29684732	Missense_Mutation	G	A	p.G311S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29687588	29684732	29684732	Missense_Mutation	G	A	p.G311S
BICR18_UPPER_AERODIGESTIVE_TRACT	29684595	29684775	29684771	29684771	Missense_Mutation	A	C	p.M324L
BICR18_UPPER_AERODIGESTIVE_TRACT	29684595	29687588	29684771	29684771	Missense_Mutation	A	C	p.M324L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29684775	29684771	29684771	Missense_Mutation	A	C	p.M324L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29687588	29684771	29684771	Missense_Mutation	A	C	p.M324L
IMR5_AUTONOMIC_GANGLIA	29687551	29687588	29687568	29687568	Missense_Mutation	G	C	p.G331A
IMR5_AUTONOMIC_GANGLIA	29687554	29687588	29687568	29687568	Missense_Mutation	G	C	p.G331A
IMR5_AUTONOMIC_GANGLIA	29684595	29687588	29687568	29687568	Missense_Mutation	G	C	p.G331A
SNU324_PANCREAS	29687551	29687588	29687571	29687571	Missense_Mutation	G	A	p.G332D
SNU324_PANCREAS	29687554	29687588	29687571	29687571	Missense_Mutation	G	A	p.G332D
SNU324_PANCREAS	29684595	29687588	29687571	29687571	Missense_Mutation	G	A	p.G332D
NCIH2347_LUNG	29687551	29687588	29687577	29687577	Missense_Mutation	A	T	p.N334I
NCIH2347_LUNG	29687554	29687588	29687577	29687577	Missense_Mutation	A	T	p.N334I
NCIH2347_LUNG	29684595	29687588	29687577	29687577	Missense_Mutation	A	T	p.N334I
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29688477	29688595	29688488	29688488	Missense_Mutation	G	A	p.D353N
MS751_CERVIX	29688477	29688595	29688496	29688496	Missense_Mutation	T	A	p.D355E
JHUEM7_ENDOMETRIUM	29688477	29688595	29688571	29688571	Missense_Mutation	C	A	p.F380L
SEKI_SKIN	29693817	29693939	29693822	29693822	Missense_Mutation	G	A	p.D434N
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29693817	29693939	29693849	29693849	Missense_Mutation	T	G	p.S443A
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29693817	29693939	29693885	29693885	Missense_Mutation	C	T	p.R455W
AN3CA_ENDOMETRIUM	29695224	29695321	29695270	29695270	Missense_Mutation	T	C	p.C543R
AN3CA_ENDOMETRIUM	29695185	29695270	29695270	29695270	Missense_Mutation	T	C	p.C543R
NCIH2141_LUNG	29695224	29695321	29695290	29695290	Missense_Mutation	A	T	p.E549D
KPNYN_AUTONOMIC_GANGLIA	29695224	29695321	29695313	29695313	Missense_Mutation	C	T	p.P557L
CL34_LARGE_INTESTINE	29695224	29695321	29695319	29695319	Missense_Mutation	C	T	p.P559L
GSS_STOMACH	29695589	29695841	29695597	29695597	Missense_Mutation	C	T	p.R563C
LC1F_LUNG	29695589	29695841	29695597	29695597	Missense_Mutation	C	T	p.R563C
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29695589	29695841	29695658	29695658	Missense_Mutation	G	A	p.G583D
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29695589	29695841	29695712	29695712	Missense_Mutation	G	T	p.G601V
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29695589	29695841	29695717	29695717	Missense_Mutation	C	T	p.R603W
CW2_LARGE_INTESTINE	29695589	29695841	29695754	29695754	Missense_Mutation	G	A	p.R615Q
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29695589	29695841	29695754	29695754	Missense_Mutation	G	A	p.R615Q
ES4_BONE	29695589	29695841	29695793	29695794	Missense_Mutation	AG	CA	p.Q628P
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29668205	29668241	29668234	29668234	Nonsense_Mutation	C	T	p.Q15*
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29678379	29678546	29678443	29678443	Nonsense_Mutation	C	T	p.Q160*
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29682912	29683123	29683096	29683096	Nonsense_Mutation	C	T	p.Q256*
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29684775	29684639	29684639	Nonsense_Mutation	C	T	p.Q280*
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29687588	29684639	29684639	Nonsense_Mutation	C	T	p.Q280*
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29687551	29687588	29687552	29687552	Splice_Site	A	G	p.S326G
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29687554	29687588	29687552	29687552	Splice_Site	A	G	p.S326G
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	29684595	29687588	29687552	29687552	Splice_Site	A	G	p.S326G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EWSR1

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_364247	22	29682911:29683123:29684594:29687588:29688125:29688158	29684594:29687588	ENST00000479135.1	HNSC	rs5763131	chr22:29685752	A/G	2.18e-03
exon_skip_364247	22	29682911:29683123:29684594:29687588:29688125:29688158	29684594:29687588	ENST00000479135.1	PRAD	rs28755	chr22:29685711	C/T	1.30e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EWSR1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EWSR1

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RelatedDrugs for EWSR1

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 EWSR1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
EWSR1	C0553580	Ewings sarcoma	3	CTD_human;HPO;ORPHANET
EWSR1	C0206663	Neuroectodermal Tumor, Primitive	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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