ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ESRP1

Gene summary

Gene information	Gene symbol	ESRP1
	Gene ID	54845
	Gene name	epithelial splicing regulatory protein 1
	Synonyms	RBM35A\|RMB35A
	Cytomap	8q22.1
	Type of gene	protein-coding
	Description	epithelial splicing regulatory protein 1RNA-binding motif protein 35ARNA-binding protein 35A
	Modification date	20180519
	UniProtAcc	Q6NXG1
	Context	PubMed: ESRP1 [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
ESRP1	GO:0043484	regulation of RNA splicing	19285943

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Exon skipping events across known transcript of Ensembl for ESRP1 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 ESRP1

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 ESRP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_484670	8	95653426:95653678:95654183:95654312:95655530:95655644	95654183:95654312	ENSG00000104413.11	ENST00000454170.2,ENST00000433389.2,ENST00000358397.5
exon_skip_484673	8	95658400:95658563:95661765:95661867:95674728:95674783	95661765:95661867	ENSG00000104413.11	ENST00000522756.1
exon_skip_484675	8	95674728:95674783:95676924:95677035:95677154:95677287	95676924:95677035	ENSG00000104413.11	ENST00000454170.2,ENST00000517610.1,ENST00000433389.2,ENST00000519505.1,ENST00000358397.5,ENST00000522756.1,ENST00000423620.2
exon_skip_484689	8	95680176:95680478:95683680:95683899:95686535:95686722	95683680:95683899	ENSG00000104413.11	ENST00000454170.2,ENST00000517610.1,ENST00000433389.2,ENST00000519505.1,ENST00000358397.5,ENST00000423620.2
exon_skip_484719	8	95683741:95683899:95686535:95686722:95690430:95690599	95686535:95686722	ENSG00000104413.11	ENST00000358397.5,ENST00000423620.2
exon_skip_484722	8	95683741:95683899:95686535:95686734:95690430:95690599	95686535:95686734	ENSG00000104413.11	ENST00000454170.2,ENST00000517610.1,ENST00000433389.2,ENST00000519505.1
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENSG00000104413.11	ENST00000358397.5,ENST00000423620.2
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENSG00000104413.11	ENST00000454170.2
exon_skip_484749	8	95690460:95690599:95704904:95705055:95709079:95709189	95704904:95705055	ENSG00000104413.11	ENST00000433389.2,ENST00000358397.5
exon_skip_484750	8	95690460:95690599:95704904:95705055:95718152:95718743	95704904:95705055	ENSG00000104413.11	ENST00000517610.1,ENST00000423620.2
exon_skip_484754	8	95690460:95690599:95709079:95709189:95718152:95718743	95709079:95709189	ENSG00000104413.11	ENST00000519505.1
exon_skip_484756	8	95704974:95705055:95709079:95709189:95718152:95718743	95709079:95709189	ENSG00000104413.11	ENST00000433389.2,ENST00000358397.5

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ESRP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_484670	8	95653426:95653678:95654183:95654312:95655530:95655644	95654183:95654312	ENSG00000104413.11	ENST00000433389.2,ENST00000358397.5,ENST00000454170.2
exon_skip_484675	8	95674728:95674783:95676924:95677035:95677154:95677287	95676924:95677035	ENSG00000104413.11	ENST00000423620.2,ENST00000433389.2,ENST00000358397.5,ENST00000454170.2,ENST00000522756.1,ENST00000519505.1,ENST00000517610.1
exon_skip_484689	8	95680176:95680478:95683680:95683899:95686535:95686722	95683680:95683899	ENSG00000104413.11	ENST00000423620.2,ENST00000433389.2,ENST00000358397.5,ENST00000454170.2,ENST00000519505.1,ENST00000517610.1
exon_skip_484719	8	95683741:95683899:95686535:95686722:95690430:95690599	95686535:95686722	ENSG00000104413.11	ENST00000423620.2,ENST00000358397.5
exon_skip_484722	8	95683741:95683899:95686535:95686734:95690430:95690599	95686535:95686734	ENSG00000104413.11	ENST00000433389.2,ENST00000454170.2,ENST00000519505.1,ENST00000517610.1
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENSG00000104413.11	ENST00000423620.2,ENST00000358397.5
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENSG00000104413.11	ENST00000454170.2
exon_skip_484749	8	95690460:95690599:95704904:95705055:95709079:95709189	95704904:95705055	ENSG00000104413.11	ENST00000433389.2,ENST00000358397.5
exon_skip_484750	8	95690460:95690599:95704904:95705055:95718152:95718743	95704904:95705055	ENSG00000104413.11	ENST00000423620.2,ENST00000517610.1
exon_skip_484754	8	95690460:95690599:95709079:95709189:95718152:95718743	95709079:95709189	ENSG00000104413.11	ENST00000519505.1
exon_skip_484756	8	95704974:95705055:95709079:95709189:95718152:95718743	95709079:95709189	ENSG00000104413.11	ENST00000433389.2,ENST00000358397.5

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 ESRP1

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
ENST00000433389	95709079	95709189	3UTR-3CDS
ENST00000433389	95686535	95686734	Frame-shift
ENST00000433389	95704904	95705055	Frame-shift
ENST00000433389	95654183	95654312	In-frame
ENST00000433389	95676924	95677035	In-frame
ENST00000433389	95683680	95683899	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
ENST00000433389	95709079	95709189	3UTR-3CDS
ENST00000433389	95686535	95686734	Frame-shift
ENST00000433389	95704904	95705055	Frame-shift
ENST00000433389	95654183	95654312	In-frame
ENST00000433389	95676924	95677035	In-frame
ENST00000433389	95683680	95683899	In-frame

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Infer the effects of exon skipping event on protein functional features for ESRP1

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
ENST00000433389	3787	681	95654183	95654312	323	451	44	87
ENST00000433389	3787	681	95676924	95677035	835	945	215	251
ENST00000433389	3787	681	95683680	95683899	1424	1642	411	484

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
ENST00000433389	3787	681	95654183	95654312	323	451	44	87
ENST00000433389	3787	681	95676924	95677035	835	945	215	251
ENST00000433389	3787	681	95683680	95683899	1424	1642	411	484

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
Q6NXG1	44	87	1	681	Chain	ID=PRO_0000273046;Note=Epithelial splicing regulatory protein 1
Q6NXG1	215	251	1	681	Chain	ID=PRO_0000273046;Note=Epithelial splicing regulatory protein 1
Q6NXG1	215	251	225	302	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q6NXG1	411	484	446	451	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2RVJ
Q6NXG1	411	484	471	481	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2RVJ
Q6NXG1	411	484	1	681	Chain	ID=PRO_0000273046;Note=Epithelial splicing regulatory protein 1
Q6NXG1	411	484	445	525	Domain	Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q6NXG1	411	484	406	416	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DHA
Q6NXG1	411	484	458	465	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2RVJ
Q6NXG1	411	484	466	470	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2RVJ

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
Q6NXG1	44	87	1	681	Chain	ID=PRO_0000273046;Note=Epithelial splicing regulatory protein 1
Q6NXG1	215	251	1	681	Chain	ID=PRO_0000273046;Note=Epithelial splicing regulatory protein 1
Q6NXG1	215	251	225	302	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q6NXG1	411	484	446	451	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2RVJ
Q6NXG1	411	484	471	481	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2RVJ
Q6NXG1	411	484	1	681	Chain	ID=PRO_0000273046;Note=Epithelial splicing regulatory protein 1
Q6NXG1	411	484	445	525	Domain	Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q6NXG1	411	484	406	416	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DHA
Q6NXG1	411	484	458	465	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2RVJ
Q6NXG1	411	484	466	470	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2RVJ

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SNVs in the skipped exons for ESRP1

- 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.

- 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-A3A0-01	exon_skip_484689	95683681	95683899	95683842	95683842	Frame_Shift_Del	G	-	p.L465fs
ACC	TCGA-OR-A5J5-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.H509fs
ACC	TCGA-OR-A5J5-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.H509fs
COAD	TCGA-AA-3663-01	exon_skip_484719	95686536	95686722	95686611	95686612	Frame_Shift_Del	AA	-	p.509_510del
COAD	TCGA-AA-3663-01	exon_skip_484722	95686536	95686734	95686611	95686612	Frame_Shift_Del	AA	-	p.509_510del
ESCA	TCGA-L5-A4OI-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.H509fs
ESCA	TCGA-L5-A4OI-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
ESCA	TCGA-L5-A4OI-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.N512fs
ESCA	TCGA-L5-A4OI-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.H509fs
ESCA	TCGA-L5-A4OI-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
ESCA	TCGA-L5-A4OI-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.N512fs
ESCA	TCGA-L5-A8NM-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
ESCA	TCGA-L5-A8NM-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.N512fs
ESCA	TCGA-L5-A8NM-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
ESCA	TCGA-L5-A8NM-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.N512fs
LIHC	TCGA-CC-5263-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
LIHC	TCGA-CC-5263-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
STAD	TCGA-D7-A6EV-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
STAD	TCGA-D7-A6EV-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
UCEC	TCGA-A5-A0G9-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K510fs
UCEC	TCGA-A5-A0G9-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K510fs
UCEC	TCGA-AX-A05Y-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K510fs
UCEC	TCGA-AX-A05Y-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K510fs
UCEC	TCGA-B5-A0JZ-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K510fs
UCEC	TCGA-B5-A0JZ-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K510fs
UCEC	TCGA-BG-A0MQ-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K510fs
UCEC	TCGA-BG-A0MQ-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K510fs
UCEC	TCGA-D1-A17D-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K510fs
UCEC	TCGA-D1-A17D-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K510fs
UCS	TCGA-N7-A4Y0-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.H509fs
UCS	TCGA-N7-A4Y0-01	exon_skip_484719	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
UCS	TCGA-N7-A4Y0-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.H509fs
UCS	TCGA-N7-A4Y0-01	exon_skip_484722	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
LIHC	TCGA-DD-A1EG-01	exon_skip_484719	95686536	95686722	95686682	95686682	Frame_Shift_Del	G	-	p.M533fs
LIHC	TCGA-DD-A1EG-01	exon_skip_484722	95686536	95686734	95686682	95686682	Frame_Shift_Del	G	-	p.M533fs
STAD	TCGA-BR-4292-01	exon_skip_484689	95683681	95683899	95683841	95683842	Frame_Shift_Ins	-	G	p.L465fs
STAD	TCGA-BR-4292-01	exon_skip_484689	95683681	95683899	95683842	95683843	Frame_Shift_Ins	-	G	p.L465fs
UCEC	TCGA-D1-A174-01	exon_skip_484719	95686536	95686722	95686610	95686611	Frame_Shift_Ins	-	A	p.H509fs
UCEC	TCGA-D1-A174-01	exon_skip_484722	95686536	95686734	95686610	95686611	Frame_Shift_Ins	-	A	p.H509fs
UCEC	TCGA-BG-A0M4-01	exon_skip_484675	95676925	95677035	95676968	95676968	Nonsense_Mutation	C	T	p.R230*
UCEC	TCGA-D1-A16E-01	exon_skip_484675	95676925	95677035	95676982	95676982	Nonsense_Mutation	G	A	p.W234*
UCEC	TCGA-D1-A176-01	exon_skip_484675	95676925	95677035	95676982	95676982	Nonsense_Mutation	G	A	p.W234*
PRAD	TCGA-EJ-5519-01	exon_skip_484675	95676925	95677035	95676990	95676990	Nonsense_Mutation	C	G	p.S237*
PRAD	TCGA-EJ-5519-01	exon_skip_484675	95676925	95677035	95676990	95676990	Nonsense_Mutation	C	G	p.S237X
SKCM	TCGA-D3-A3C8-06	exon_skip_484689	95683681	95683899	95683690	95683690	Nonsense_Mutation	C	T	p.R415*
UCEC	TCGA-D1-A17Q-01	exon_skip_484689	95683681	95683899	95683795	95683795	Nonsense_Mutation	C	T	p.R450*
UCEC	TCGA-AP-A059-01	exon_skip_484719	95686536	95686722	95686698	95686698	Nonsense_Mutation	C	T	p.R539*
UCEC	TCGA-AP-A059-01	exon_skip_484722	95686536	95686734	95686698	95686698	Nonsense_Mutation	C	T	p.R539*
UCEC	TCGA-D1-A17Q-01	exon_skip_484719	95686536	95686722	95686698	95686698	Nonsense_Mutation	C	T	p.R539*
UCEC	TCGA-D1-A17Q-01	exon_skip_484722	95686536	95686734	95686698	95686698	Nonsense_Mutation	C	T	p.R539*
UCEC	TCGA-AX-A05Z-01	exon_skip_484754 exon_skip_484756	95709080	95709189	95709137	95709137	Nonsense_Mutation	G	T	p.E677*
COAD	TCGA-AA-3492-01	exon_skip_484719	95686536	95686722	95686535	95686535	Splice_Site	G	A	.
COAD	TCGA-AA-3492-01	exon_skip_484722	95686536	95686734	95686535	95686535	Splice_Site	G	A	.
STAD	TCGA-CG-4477-01	exon_skip_484750 exon_skip_484749	95704905	95705055	95705056	95705059	Splice_Site	GTCA	-	p.Q657_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CG-4477-01
	Cancer type: STAD
	ESID: exon_skip_484749
	Skipped exon start: 95704905
	Skipped exon end: 95705055
	Mutation start: 95705056
	Mutation end: 95705059
	Mutation type: Splice_Site
	Reference seq: GTCA
	Mutation seq: -
	AAchange: p.Q657_splice
exon_skip_286379_STAD_TCGA-CG-4477-01.png
exon_skip_484749_STAD_TCGA-CG-4477-01.png
exon_skip_484750_STAD_TCGA-CG-4477-01.png
	Sample: TCGA-CG-4477-01
	Cancer type: STAD
	ESID: exon_skip_484749
	Skipped exon start: 95704905
	Skipped exon end: 95705055
	Mutation start: 95705056
	Mutation end: 95705059
	Mutation type: Splice_Site
	Reference seq: GTCA
	Mutation seq: -
	AAchange: p.Q657_splice
exon_skip_286379_STAD_TCGA-CG-4477-01.png
exon_skip_484749_STAD_TCGA-CG-4477-01.png
exon_skip_484750_STAD_TCGA-CG-4477-01.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
C33A_CERVIX	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
C33A_CERVIX	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
HEC151_ENDOMETRIUM	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
HEC151_ENDOMETRIUM	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
HEC6_ENDOMETRIUM	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
HEC6_ENDOMETRIUM	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
SNUC2A_LARGE_INTESTINE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
SNUC2A_LARGE_INTESTINE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
SNUC4_LARGE_INTESTINE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
SNUC4_LARGE_INTESTINE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
EFO27_OVARY	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
EFO27_OVARY	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
HCT15_LARGE_INTESTINE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
HCT15_LARGE_INTESTINE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
IM95_STOMACH	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
IM95_STOMACH	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
RKO_LARGE_INTESTINE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
RKO_LARGE_INTESTINE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
CAL51_BREAST	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
CAL51_BREAST	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
CCK81_LARGE_INTESTINE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
CCK81_LARGE_INTESTINE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
IGROV1_OVARY	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
IGROV1_OVARY	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
KM12_LARGE_INTESTINE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
KM12_LARGE_INTESTINE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
LS180_LARGE_INTESTINE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
LS180_LARGE_INTESTINE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
RL952_ENDOMETRIUM	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
RL952_ENDOMETRIUM	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
SKUT1_SOFT_TISSUE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
SKUT1_SOFT_TISSUE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
SNU407_LARGE_INTESTINE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
SNU407_LARGE_INTESTINE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
GP5D_LARGE_INTESTINE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
GP5D_LARGE_INTESTINE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
LIM1215_LARGE_INTESTINE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
LIM1215_LARGE_INTESTINE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
SNUC2B_LARGE_INTESTINE	95686536	95686734	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
SNUC2B_LARGE_INTESTINE	95686536	95686722	95686611	95686611	Frame_Shift_Del	A	-	p.K511fs
LOVO_LARGE_INTESTINE	95686536	95686734	95686611	95686612	Frame_Shift_Del	AA	-	p.K511fs
LOVO_LARGE_INTESTINE	95686536	95686722	95686611	95686612	Frame_Shift_Del	AA	-	p.K511fs
LOVO_LARGE_INTESTINE	95686536	95686734	95686612	95686612	Frame_Shift_Del	A	-	p.K511fs
LOVO_LARGE_INTESTINE	95686536	95686722	95686612	95686612	Frame_Shift_Del	A	-	p.K511fs
SNUC5_LARGE_INTESTINE	95686536	95686734	95686682	95686682	Frame_Shift_Del	G	-	p.M533fs
SNUC5_LARGE_INTESTINE	95686536	95686722	95686682	95686682	Frame_Shift_Del	G	-	p.M533fs
HEC108_ENDOMETRIUM	95690431	95690599	95690442	95690442	Frame_Shift_Del	C	-	p.P555fs
SNUC5_LARGE_INTESTINE	95686536	95686734	95686610	95686611	Frame_Shift_Ins	-	A	p.K510fs
SNUC5_LARGE_INTESTINE	95686536	95686722	95686610	95686611	Frame_Shift_Ins	-	A	p.K510fs
HEC59_ENDOMETRIUM	95686536	95686734	95686611	95686612	Frame_Shift_Ins	-	A	p.K510fs
HEC59_ENDOMETRIUM	95686536	95686722	95686611	95686612	Frame_Shift_Ins	-	A	p.K510fs
NCIH650_LUNG	95654184	95654312	95654235	95654235	Missense_Mutation	G	C	p.E62Q
HT115_LARGE_INTESTINE	95654184	95654312	95654253	95654253	Missense_Mutation	A	G	p.T68A
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95676925	95677035	95676936	95676936	Missense_Mutation	A	G	p.E219G
MEWO_SKIN	95676925	95677035	95676954	95676954	Missense_Mutation	C	T	p.T225I
HCT15_LARGE_INTESTINE	95676925	95677035	95676969	95676969	Missense_Mutation	G	C	p.R230P
SW156_KIDNEY	95676925	95677035	95676995	95676995	Missense_Mutation	C	A	p.Q239K
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95676925	95677035	95677005	95677005	Missense_Mutation	C	A	p.A242E
SNUC4_LARGE_INTESTINE	95676925	95677035	95677012	95677012	Missense_Mutation	C	A	p.F244L
HT3_CERVIX	95683681	95683899	95683691	95683691	Missense_Mutation	G	A	p.R415Q
MCC13_SKIN	95683681	95683899	95683697	95683697	Missense_Mutation	C	T	p.S417F
NCIH510_LUNG	95683681	95683899	95683720	95683720	Missense_Mutation	C	T	p.P425S
EN_ENDOMETRIUM	95683681	95683899	95683778	95683778	Missense_Mutation	G	A	p.R444K
NH12_AUTONOMIC_GANGLIA	95683681	95683899	95683868	95683868	Missense_Mutation	C	T	p.T474I
CADOES1_BONE	95686536	95686734	95686618	95686618	Missense_Mutation	A	C	p.N512T
CADOES1_BONE	95686536	95686722	95686618	95686618	Missense_Mutation	A	C	p.N512T
DV90_LUNG	95686536	95686734	95686626	95686626	Missense_Mutation	G	A	p.D515N
DV90_LUNG	95686536	95686722	95686626	95686626	Missense_Mutation	G	A	p.D515N
SCMCRM2_SOFT_TISSUE	95686536	95686734	95686667	95686667	Missense_Mutation	G	A	p.M528I
SCMCRM2_SOFT_TISSUE	95686536	95686722	95686667	95686667	Missense_Mutation	G	A	p.M528I
IPC298_SKIN	95686536	95686734	95686683	95686683	Missense_Mutation	G	A	p.G534R
IPC298_SKIN	95686536	95686722	95686683	95686683	Missense_Mutation	G	A	p.G534R
SNU81_LARGE_INTESTINE	95686536	95686734	95686723	95686723	Missense_Mutation	G	T	p.C547F
SNU81_LARGE_INTESTINE	95686536	95686722	95686723	95686723	Missense_Mutation	G	T	p.C547F
SNU175_LARGE_INTESTINE	95690431	95690599	95690491	95690491	Missense_Mutation	C	T	p.A571V
DANG_PANCREAS	95690431	95690599	95690506	95690506	Missense_Mutation	C	T	p.S576F
SNU349_KIDNEY	95690431	95690599	95690547	95690547	Missense_Mutation	T	C	p.Y590H
DAOY_CENTRAL_NERVOUS_SYSTEM	95690431	95690599	95690565	95690565	Missense_Mutation	C	G	p.Q596E
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95690431	95690599	95690578	95690578	Missense_Mutation	A	G	p.N600S
MM386_SKIN	95704905	95705055	95704916	95704916	Missense_Mutation	C	T	p.S611L
HEP3B217_LIVER	95704905	95705055	95704936	95704936	Missense_Mutation	T	C	p.F618L
D566MG_CENTRAL_NERVOUS_SYSTEM	95704905	95705055	95704960	95704960	Missense_Mutation	G	A	p.G626S
UMUC5_URINARY_TRACT	95704905	95705055	95704982	95704982	Missense_Mutation	C	T	p.T633M
SW962_VULVA	95704905	95705055	95705014	95705014	Missense_Mutation	A	C	p.T644P
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95704905	95705055	95705045	95705045	Missense_Mutation	A	C	p.Q654P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95709080	95709189	95709101	95709101	Missense_Mutation	A	G	p.I665V
JHUEM7_ENDOMETRIUM	95683681	95683899	95683690	95683690	Nonsense_Mutation	C	T	p.R415*
MZ7MEL_SKIN	95690431	95690599	95690565	95690565	Nonsense_Mutation	C	T	p.Q596*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ESRP1

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_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENST00000358397.5,ENST00000423620.2	COAD	rs12677519	chr8:95690579	C/T	2.78e-04
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENST00000358397.5,ENST00000423620.2	BLCA	rs12677519	chr8:95690579	C/T	9.71e-04
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENST00000358397.5,ENST00000423620.2	ESCA	rs12677519	chr8:95690579	C/T	9.47e-05
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENST00000358397.5,ENST00000423620.2	HNSC	rs12677519	chr8:95690579	C/T	2.09e-06
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENST00000358397.5,ENST00000423620.2	LUAD	rs12677519	chr8:95690579	C/T	1.39e-04
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENST00000358397.5,ENST00000423620.2	LUSC	rs12677519	chr8:95690579	C/T	9.23e-04
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENST00000358397.5,ENST00000423620.2	OV	rs12677519	chr8:95690579	C/T	2.24e-03
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENST00000358397.5,ENST00000423620.2	READ	rs12677519	chr8:95690579	C/T	9.70e-05
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENST00000358397.5,ENST00000423620.2	PRAD	rs12677519	chr8:95690579	C/T	2.36e-05
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENST00000358397.5,ENST00000423620.2	STAD	rs12677519	chr8:95690579	C/T	1.36e-03
exon_skip_484733	8	95686535:95686722:95690430:95690599:95704904:95705055	95690430:95690599	ENST00000358397.5,ENST00000423620.2	THCA	rs12677519	chr8:95690579	C/T	3.80e-06
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENST00000454170.2	COAD	rs12677519	chr8:95690579	C/T	2.78e-04
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENST00000454170.2	BLCA	rs12677519	chr8:95690579	C/T	9.71e-04
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENST00000454170.2	ESCA	rs12677519	chr8:95690579	C/T	9.47e-05
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENST00000454170.2	HNSC	rs12677519	chr8:95690579	C/T	2.09e-06
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENST00000454170.2	LUAD	rs12677519	chr8:95690579	C/T	1.39e-04
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENST00000454170.2	LUSC	rs12677519	chr8:95690579	C/T	9.23e-04
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENST00000454170.2	OV	rs12677519	chr8:95690579	C/T	2.24e-03
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENST00000454170.2	READ	rs12677519	chr8:95690579	C/T	9.70e-05
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENST00000454170.2	PRAD	rs12677519	chr8:95690579	C/T	2.36e-05
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENST00000454170.2	STAD	rs12677519	chr8:95690579	C/T	1.36e-03
exon_skip_484741	8	95686535:95686734:95690430:95690599:95718152:95718743	95690430:95690599	ENST00000454170.2	THCA	rs12677519	chr8:95690579	C/T	3.80e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ESRP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ESRP1

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RelatedDrugs for ESRP1

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 ESRP1

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 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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