ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CSDE1

Gene summary

Gene information	Gene symbol	CSDE1
	Gene ID	7812
	Gene name	cold shock domain containing E1
	Synonyms	D1S155E\|UNR
	Cytomap	1p13.2
	Type of gene	protein-coding
	Description	cold shock domain-containing protein E1N-ras upstream gene proteinNRAS-relatedcold shock domain containing E1, RNA bindingupstream of NRAS
	Modification date	20180519
	UniProtAcc	O75534
	Context	PubMed: CSDE1 [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 CSDE1 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 CSDE1

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 CSDE1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_29510	1	115260577:115260837:115261233:115261366:115262199:115262363	115261233:115261366	ENSG00000009307.11	ENST00000261443.5,ENST00000358528.4,ENST00000369530.1,ENST00000339438.6,ENST00000534699.1,ENST00000530886.1,ENST00000438362.2
exon_skip_29512	1	115261233:115261366:115262199:115262363:115263159:115263338	115262199:115262363	ENSG00000009307.11	ENST00000261443.5,ENST00000358528.4,ENST00000369530.1,ENST00000339438.6,ENST00000534699.1,ENST00000530886.1,ENST00000438362.2
exon_skip_29515	1	115263198:115263338:115266503:115266623:115267841:115267954	115266503:115266623	ENSG00000009307.11	ENST00000261443.5,ENST00000358528.4,ENST00000369530.1,ENST00000339438.6,ENST00000483030.1,ENST00000534699.1,ENST00000530886.1,ENST00000438362.2
exon_skip_29519	1	115266503:115266623:115267841:115267954:115268831:115268969	115267841:115267954	ENSG00000009307.11	ENST00000261443.5,ENST00000358528.4,ENST00000369530.1,ENST00000339438.6,ENST00000483030.1,ENST00000534699.1,ENST00000530886.1,ENST00000438362.2
exon_skip_29521	1	115267841:115267954:115268831:115269007:115269603:115269711	115268831:115269007	ENSG00000009307.11	ENST00000261443.5,ENST00000358528.4,ENST00000369530.1,ENST00000339438.6,ENST00000534699.1,ENST00000530886.1,ENST00000438362.2
exon_skip_29525	1	115268831:115269007:115269603:115269711:115272878:115273023	115269603:115269711	ENSG00000009307.11	ENST00000261443.5,ENST00000358528.4,ENST00000369530.1,ENST00000339438.6,ENST00000534699.1,ENST00000530886.1,ENST00000438362.2
exon_skip_29528	1	115269603:115269711:115272878:115273043:115273128:115273269	115272878:115273043	ENSG00000009307.11	ENST00000261443.5,ENST00000358528.4,ENST00000369530.1,ENST00000339438.6,ENST00000534699.1,ENST00000530886.1,ENST00000438362.2
exon_skip_29533	1	115272878:115273043:115273128:115273269:115275224:115275437	115273128:115273269	ENSG00000009307.11	ENST00000261443.5,ENST00000358528.4,ENST00000369530.1,ENST00000339438.6,ENST00000534699.1,ENST00000530886.1,ENST00000438362.2
exon_skip_29538	1	115273149:115273269:115275224:115275437:115276352:115276478	115275224:115275437	ENSG00000009307.11	ENST00000261443.5,ENST00000358528.4,ENST00000369530.1,ENST00000339438.6,ENST00000534699.1,ENST00000530886.1,ENST00000438362.2
exon_skip_29543	1	115276389:115276478:115276609:115276738:115277062:115277144	115276609:115276738	ENSG00000009307.11	ENST00000261443.5,ENST00000358528.4,ENST00000369530.1,ENST00000339438.6,ENST00000534699.1,ENST00000530886.1,ENST00000438362.2,ENST00000529046.1
exon_skip_29546	1	115279378:115279476:115280091:115280184:115280583:115280675	115280091:115280184	ENSG00000009307.11	ENST00000358528.4,ENST00000534699.1,ENST00000438362.2
exon_skip_29554	1	115280608:115280693:115282312:115282511:115292441:115292525	115282312:115282511	ENSG00000009307.11	ENST00000358528.4,ENST00000339438.6
exon_skip_29555	1	115280608:115280693:115282312:115282511:115300545:115300585	115282312:115282511	ENSG00000009307.11	ENST00000261443.5,ENST00000534699.1
exon_skip_29559	1	115280608:115280693:115292441:115292828:115300545:115300585	115292441:115292828	ENSG00000009307.11	ENST00000530886.1
exon_skip_29565	1	115282373:115282511:115284147:115284294:115292441:115292525	115284147:115284294	ENSG00000009307.11	ENST00000369530.1,ENST00000438362.2
exon_skip_29569	1	115282373:115282511:115292441:115292828:115300545:115300585	115292441:115292828	ENSG00000009307.11	ENST00000358528.4
exon_skip_29576	1	115292769:115292828:115299397:115299509:115300545:115300585	115299397:115299509	ENSG00000009307.11	ENST00000524652.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CSDE1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_29510	1	115260577:115260837:115261233:115261366:115262199:115262363	115261233:115261366	ENSG00000009307.11	ENST00000339438.6,ENST00000438362.2,ENST00000358528.4,ENST00000261443.5,ENST00000530886.1,ENST00000369530.1,ENST00000534699.1
exon_skip_29512	1	115261233:115261366:115262199:115262363:115263159:115263338	115262199:115262363	ENSG00000009307.11	ENST00000339438.6,ENST00000438362.2,ENST00000358528.4,ENST00000261443.5,ENST00000530886.1,ENST00000369530.1,ENST00000534699.1
exon_skip_29515	1	115263198:115263338:115266503:115266623:115267841:115267954	115266503:115266623	ENSG00000009307.11	ENST00000339438.6,ENST00000438362.2,ENST00000358528.4,ENST00000261443.5,ENST00000530886.1,ENST00000369530.1,ENST00000534699.1,ENST00000483030.1
exon_skip_29519	1	115266503:115266623:115267841:115267954:115268831:115268969	115267841:115267954	ENSG00000009307.11	ENST00000339438.6,ENST00000438362.2,ENST00000358528.4,ENST00000261443.5,ENST00000530886.1,ENST00000369530.1,ENST00000534699.1,ENST00000483030.1
exon_skip_29521	1	115267841:115267954:115268831:115269007:115269603:115269711	115268831:115269007	ENSG00000009307.11	ENST00000339438.6,ENST00000438362.2,ENST00000358528.4,ENST00000261443.5,ENST00000530886.1,ENST00000369530.1,ENST00000534699.1
exon_skip_29525	1	115268831:115269007:115269603:115269711:115272878:115273023	115269603:115269711	ENSG00000009307.11	ENST00000339438.6,ENST00000438362.2,ENST00000358528.4,ENST00000261443.5,ENST00000530886.1,ENST00000369530.1,ENST00000534699.1
exon_skip_29528	1	115269603:115269711:115272878:115273043:115273128:115273269	115272878:115273043	ENSG00000009307.11	ENST00000339438.6,ENST00000438362.2,ENST00000358528.4,ENST00000261443.5,ENST00000530886.1,ENST00000369530.1,ENST00000534699.1
exon_skip_29533	1	115272878:115273043:115273128:115273269:115275224:115275437	115273128:115273269	ENSG00000009307.11	ENST00000339438.6,ENST00000438362.2,ENST00000358528.4,ENST00000261443.5,ENST00000530886.1,ENST00000369530.1,ENST00000534699.1
exon_skip_29538	1	115273149:115273269:115275224:115275437:115276352:115276478	115275224:115275437	ENSG00000009307.11	ENST00000339438.6,ENST00000438362.2,ENST00000358528.4,ENST00000261443.5,ENST00000530886.1,ENST00000369530.1,ENST00000534699.1
exon_skip_29543	1	115276389:115276478:115276609:115276738:115277062:115277144	115276609:115276738	ENSG00000009307.11	ENST00000339438.6,ENST00000438362.2,ENST00000358528.4,ENST00000261443.5,ENST00000530886.1,ENST00000369530.1,ENST00000534699.1,ENST00000529046.1
exon_skip_29546	1	115279378:115279476:115280091:115280184:115280583:115280675	115280091:115280184	ENSG00000009307.11	ENST00000438362.2,ENST00000358528.4,ENST00000534699.1
exon_skip_29554	1	115280608:115280693:115282312:115282511:115292441:115292525	115282312:115282511	ENSG00000009307.11	ENST00000339438.6,ENST00000358528.4
exon_skip_29555	1	115280608:115280693:115282312:115282511:115300545:115300585	115282312:115282511	ENSG00000009307.11	ENST00000261443.5,ENST00000534699.1
exon_skip_29559	1	115280608:115280693:115292441:115292828:115300545:115300585	115292441:115292828	ENSG00000009307.11	ENST00000530886.1
exon_skip_29565	1	115282373:115282511:115284147:115284294:115292441:115292525	115284147:115284294	ENSG00000009307.11	ENST00000438362.2,ENST00000369530.1
exon_skip_29569	1	115282373:115282511:115292441:115292828:115300545:115300585	115292441:115292828	ENSG00000009307.11	ENST00000358528.4
exon_skip_29576	1	115292769:115292828:115299397:115299509:115300545:115300585	115299397:115299509	ENSG00000009307.11	ENST00000524652.1

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 CSDE1

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
ENST00000358528	115292441	115292828	3UTR-3UTR
ENST00000358528	115261233	115261366	Frame-shift
ENST00000534699	115261233	115261366	Frame-shift
ENST00000358528	115262199	115262363	Frame-shift
ENST00000534699	115262199	115262363	Frame-shift
ENST00000358528	115267841	115267954	Frame-shift
ENST00000534699	115267841	115267954	Frame-shift
ENST00000358528	115268831	115269007	Frame-shift
ENST00000534699	115268831	115269007	Frame-shift
ENST00000358528	115266503	115266623	In-frame
ENST00000534699	115266503	115266623	In-frame
ENST00000358528	115269603	115269711	In-frame
ENST00000534699	115269603	115269711	In-frame
ENST00000358528	115272878	115273043	In-frame
ENST00000534699	115272878	115273043	In-frame
ENST00000358528	115273128	115273269	In-frame
ENST00000534699	115273128	115273269	In-frame
ENST00000358528	115275224	115275437	In-frame
ENST00000534699	115275224	115275437	In-frame
ENST00000358528	115276609	115276738	In-frame
ENST00000534699	115276609	115276738	In-frame
ENST00000358528	115280091	115280184	In-frame
ENST00000534699	115280091	115280184	In-frame
ENST00000358528	115282312	115282511	In-frame
ENST00000534699	115282312	115282511	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
ENST00000358528	115292441	115292828	3UTR-3UTR
ENST00000358528	115261233	115261366	Frame-shift
ENST00000534699	115261233	115261366	Frame-shift
ENST00000358528	115262199	115262363	Frame-shift
ENST00000534699	115262199	115262363	Frame-shift
ENST00000358528	115267841	115267954	Frame-shift
ENST00000534699	115267841	115267954	Frame-shift
ENST00000358528	115268831	115269007	Frame-shift
ENST00000534699	115268831	115269007	Frame-shift
ENST00000358528	115266503	115266623	In-frame
ENST00000534699	115266503	115266623	In-frame
ENST00000358528	115269603	115269711	In-frame
ENST00000534699	115269603	115269711	In-frame
ENST00000358528	115272878	115273043	In-frame
ENST00000534699	115272878	115273043	In-frame
ENST00000358528	115273128	115273269	In-frame
ENST00000534699	115273128	115273269	In-frame
ENST00000358528	115275224	115275437	In-frame
ENST00000534699	115275224	115275437	In-frame
ENST00000358528	115276609	115276738	In-frame
ENST00000534699	115276609	115276738	In-frame
ENST00000358528	115280091	115280184	In-frame
ENST00000534699	115280091	115280184	In-frame
ENST00000358528	115282312	115282511	In-frame
ENST00000534699	115282312	115282511	In-frame

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Infer the effects of exon skipping event on protein functional features for CSDE1

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
ENST00000358528	4093	798	115282312	115282511	428	626	0	66
ENST00000534699	2684	798	115282312	115282511	59	257	0	66
ENST00000358528	4093	798	115280091	115280184	737	829	103	134
ENST00000534699	2684	798	115280091	115280184	368	460	103	134
ENST00000358528	4093	798	115276609	115276738	1010	1138	194	237
ENST00000534699	2684	798	115276609	115276738	641	769	194	237
ENST00000358528	4093	798	115275224	115275437	1265	1477	279	350
ENST00000534699	2684	798	115275224	115275437	896	1108	279	350
ENST00000358528	4093	798	115273128	115273269	1478	1618	350	397
ENST00000534699	2684	798	115273128	115273269	1109	1249	350	397
ENST00000358528	4093	798	115272878	115273043	1619	1783	397	452
ENST00000534699	2684	798	115272878	115273043	1250	1414	397	452
ENST00000358528	4093	798	115269603	115269711	1784	1891	452	488
ENST00000534699	2684	798	115269603	115269711	1415	1522	452	488
ENST00000358528	4093	798	115266503	115266623	2181	2300	584	624
ENST00000534699	2684	798	115266503	115266623	1812	1931	584	624

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
ENST00000358528	4093	798	115282312	115282511	428	626	0	66
ENST00000534699	2684	798	115282312	115282511	59	257	0	66
ENST00000358528	4093	798	115280091	115280184	737	829	103	134
ENST00000534699	2684	798	115280091	115280184	368	460	103	134
ENST00000358528	4093	798	115276609	115276738	1010	1138	194	237
ENST00000534699	2684	798	115276609	115276738	641	769	194	237
ENST00000358528	4093	798	115275224	115275437	1265	1477	279	350
ENST00000534699	2684	798	115275224	115275437	896	1108	279	350
ENST00000358528	4093	798	115273128	115273269	1478	1618	350	397
ENST00000534699	2684	798	115273128	115273269	1109	1249	350	397
ENST00000358528	4093	798	115272878	115273043	1619	1783	397	452
ENST00000534699	2684	798	115272878	115273043	1250	1414	397	452
ENST00000358528	4093	798	115269603	115269711	1784	1891	452	488
ENST00000534699	2684	798	115269603	115269711	1415	1522	452	488
ENST00000358528	4093	798	115266503	115266623	2181	2300	584	624
ENST00000534699	2684	798	115266503	115266623	1812	1931	584	624

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

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

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SNVs in the skipped exons for CSDE1

- 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.

CSDE1_LIHC_exon_skip_29512_psi_boxplot.png
boxplot

CSDE1_LIHC_exon_skip_29528_psi_boxplot.png
boxplot

CSDE1_LIHC_exon_skip_29565_psi_boxplot.png
boxplot

CSDE1_PCPG_exon_skip_29528_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
LIHC	TCGA-DD-A1EG-01		115262200	115262363	115262317	115262317	Frame_Shift_Del	A	-	p.F746fs
LIHC	TCGA-DD-A39Y-01		115262200	115262363	115262317	115262317	Frame_Shift_Del	A	-	p.F746fs
LIHC	TCGA-DD-A1EG-01	exon_skip_29519	115267842	115267954	115267861	115267861	Frame_Shift_Del	T	-	p.K624fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_29521	115268832	115269007	115268902	115268902	Frame_Shift_Del	C	-	p.A570fs
COAD	TCGA-D5-6535-01	exon_skip_29521	115268832	115269007	115268905	115268905	Frame_Shift_Del	C	-	p.V492fs
PCPG	TCGA-RW-A681-01	exon_skip_29521	115268832	115269007	115268982	115268985	Frame_Shift_Del	TGTT	-	p.542_543del
PCPG	TCGA-RW-A681-01	exon_skip_29521	115268832	115269007	115268982	115268985	Frame_Shift_Del	TGTT	-	p.KQ542fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_29525	115269604	115269711	115269652	115269652	Frame_Shift_Del	A	-	p.F518fs
LIHC	TCGA-DD-A39Y-01	exon_skip_29528	115272879	115273043	115272999	115272999	Frame_Shift_Del	T	-	p.K458fs
LIHC	TCGA-DD-A39Y-01	exon_skip_29528	115272879	115273043	115272999	115272999	Frame_Shift_Del	T	-	p.L459fs
LIHC	TCGA-DD-A1EG-01	exon_skip_29538	115275225	115275437	115275252	115275252	Frame_Shift_Del	A	-	p.F387fs
SKCM	TCGA-EE-A2MT-06	exon_skip_29543	115276610	115276738	115276684	115276687	Frame_Shift_Del	AGTG	-	p.181_182del
SKCM	TCGA-EE-A2MT-06	exon_skip_29543	115276610	115276738	115276684	115276687	Frame_Shift_Del	AGTG	-	p.HY258fs
LIHC	TCGA-DD-A39Y-01	exon_skip_29565	115284148	115284294	115284178	115284178	Frame_Shift_Del	T	-	p.K36fs
ACC	TCGA-OR-A5JT-01	exon_skip_29510	115261234	115261366	115261240	115261241	Frame_Shift_Ins	-	T	p.I827fs
ACC	TCGA-OR-A5JT-01	exon_skip_29510	115261234	115261366	115261240	115261241	Frame_Shift_Ins	-	T	p.N750fs
ACC	TCGA-OR-A5JT-01	exon_skip_29510	115261234	115261366	115261240	115261241	Frame_Shift_Ins	-	T	p.N827fs
LIHC	TCGA-G3-AAV0-01		115262200	115262363	115262274	115262275	Frame_Shift_Ins	-	G	p.G760fs
COAD	TCGA-A6-5665-01	exon_skip_29519	115267842	115267954	115267916	115267917	Frame_Shift_Ins	-	C	p.D529fs
ESCA	TCGA-JY-A6FG-01	exon_skip_29521	115268832	115269007	115268876	115268877	Frame_Shift_Ins	-	AATC	p.F547fs
ESCA	TCGA-JY-A6FG-01	exon_skip_29521	115268832	115269007	115268876	115268877	Frame_Shift_Ins	-	AATC	p.F578fs
ESCA	TCGA-JY-A6FG-01	exon_skip_29521	115268832	115269007	115268876	115268877	Frame_Shift_Ins	-	AATC	p.Y578fs
PCPG	TCGA-WB-A81M-01	exon_skip_29528	115272879	115273043	115272911	115272912	Frame_Shift_Ins	-	C	p.K488fs
PCPG	TCGA-WB-A81M-01	exon_skip_29528	115272879	115273043	115272911	115272912	Frame_Shift_Ins	-	C	p.N488fs
UCEC	TCGA-D1-A176-01		115262200	115262363	115262208	115262208	Nonsense_Mutation	C	T	p.W751*
UCEC	TCGA-D1-A176-01		115262200	115262363	115262208	115262208	Nonsense_Mutation	C	T	p.W782*
BLCA	TCGA-DK-A3IT-01		115262200	115262363	115262243	115262243	Nonsense_Mutation	G	A	p.Q725*
BLCA	TCGA-DK-A3IT-01		115262200	115262363	115262243	115262243	Nonsense_Mutation	G	A	p.Q771*
SKCM	TCGA-EE-A3J7-06	exon_skip_29515	115266504	115266623	115266543	115266543	Nonsense_Mutation	G	A	p.Q581X
SKCM	TCGA-EE-A3J7-06	exon_skip_29515	115266504	115266623	115266543	115266543	Nonsense_Mutation	G	A	p.Q658*
CESC	TCGA-C5-A1BL-01	exon_skip_29519	115267842	115267954	115267844	115267844	Nonsense_Mutation	G	C	p.S630*
STAD	TCGA-B7-5818-01	exon_skip_29521	115268832	115269007	115268968	115268968	Nonsense_Mutation	G	A	p.Q502*
STAD	TCGA-B7-5818-01	exon_skip_29521	115268832	115269007	115268968	115268968	Nonsense_Mutation	G	A	p.Q548X
HNSC	TCGA-BB-4227-01	exon_skip_29538	115275225	115275437	115275262	115275262	Nonsense_Mutation	G	C	p.S384*
UCEC	TCGA-BS-A0UF-01	exon_skip_29538	115275225	115275437	115275287	115275287	Nonsense_Mutation	G	A	p.R345*
DLBC	TCGA-FF-8042-01	exon_skip_29543	115276610	115276738	115276720	115276720	Nonsense_Mutation	C	A	p.E247X
STAD	TCGA-BR-6452-01	exon_skip_29510	115261234	115261366	115261368	115261368	Splice_Site	T	C	p.C739_splice
PCPG	TCGA-WB-A80M-01	exon_skip_29519	115267842	115267954	115267956	115267956	Splice_Site	T	A	.
PCPG	TCGA-S7-A7WT-01	exon_skip_29528	115272879	115273043	115272878	115272878	Splice_Site	C	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_29528
	Skipped exon start: 115272879
	Skipped exon end: 115273043
	Mutation start: 115272999
	Mutation end: 115272999
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.L459fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID:
	Skipped exon start: 115262200
	Skipped exon end: 115262363
	Mutation start: 115262317
	Mutation end: 115262317
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F746fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_29528
	Skipped exon start: 115272879
	Skipped exon end: 115273043
	Mutation start: 115272999
	Mutation end: 115272999
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.K458fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_29565
	Skipped exon start: 115284148
	Skipped exon end: 115284294
	Mutation start: 115284178
	Mutation end: 115284178
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.K36fs
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	Sample: TCGA-S7-A7WT-01
	Cancer type: PCPG
	ESID: exon_skip_29528
	Skipped exon start: 115272879
	Skipped exon end: 115273043
	Mutation start: 115272878
	Mutation end: 115272878
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: .
exon_skip_290933_PCPG_TCGA-S7-A7WT-01.png
exon_skip_29528_PCPG_TCGA-S7-A7WT-01.png
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_29528
	Skipped exon start: 115272879
	Skipped exon end: 115273043
	Mutation start: 115272999
	Mutation end: 115272999
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.L459fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID:
	Skipped exon start: 115262200
	Skipped exon end: 115262363
	Mutation start: 115262317
	Mutation end: 115262317
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F746fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_29528
	Skipped exon start: 115272879
	Skipped exon end: 115273043
	Mutation start: 115272999
	Mutation end: 115272999
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.K458fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_29565
	Skipped exon start: 115284148
	Skipped exon end: 115284294
	Mutation start: 115284178
	Mutation end: 115284178
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.K36fs
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	Sample: TCGA-D1-A176-01
	Cancer type: UCEC
	ESID:
	Skipped exon start: 115262200
	Skipped exon end: 115262363
	Mutation start: 115262208
	Mutation end: 115262208
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W782*
	Sample: TCGA-D1-A176-01
	Cancer type: UCEC
	ESID:
	Skipped exon start: 115262200
	Skipped exon end: 115262363
	Mutation start: 115262208
	Mutation end: 115262208
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W751*
exon_skip_11926_UCEC_TCGA-D1-A176-01.png
exon_skip_11933_UCEC_TCGA-D1-A176-01.png
exon_skip_11939_UCEC_TCGA-D1-A176-01.png
exon_skip_29512_UCEC_TCGA-D1-A176-01.png
exon_skip_315212_UCEC_TCGA-D1-A176-01.png
exon_skip_335800_UCEC_TCGA-D1-A176-01.png
exon_skip_446979_UCEC_TCGA-D1-A176-01.png
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_29528
	Skipped exon start: 115272879
	Skipped exon end: 115273043
	Mutation start: 115272999
	Mutation end: 115272999
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.L459fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID:
	Skipped exon start: 115262200
	Skipped exon end: 115262363
	Mutation start: 115262317
	Mutation end: 115262317
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F746fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_29528
	Skipped exon start: 115272879
	Skipped exon end: 115273043
	Mutation start: 115272999
	Mutation end: 115272999
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.K458fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_29565
	Skipped exon start: 115284148
	Skipped exon end: 115284294
	Mutation start: 115284178
	Mutation end: 115284178
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.K36fs
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exon_skip_445458_LIHC_TCGA-DD-A39Y-01.png
exon_skip_446492_LIHC_TCGA-DD-A39Y-01.png
exon_skip_446495_LIHC_TCGA-DD-A39Y-01.png
exon_skip_446671_LIHC_TCGA-DD-A39Y-01.png
exon_skip_450412_LIHC_TCGA-DD-A39Y-01.png
exon_skip_450419_LIHC_TCGA-DD-A39Y-01.png
exon_skip_453010_LIHC_TCGA-DD-A39Y-01.png
exon_skip_454760_LIHC_TCGA-DD-A39Y-01.png
exon_skip_456871_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458039_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458091_LIHC_TCGA-DD-A39Y-01.png
exon_skip_45824_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458292_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458727_LIHC_TCGA-DD-A39Y-01.png
exon_skip_459683_LIHC_TCGA-DD-A39Y-01.png
exon_skip_460515_LIHC_TCGA-DD-A39Y-01.png
exon_skip_463936_LIHC_TCGA-DD-A39Y-01.png
exon_skip_464994_LIHC_TCGA-DD-A39Y-01.png
exon_skip_465641_LIHC_TCGA-DD-A39Y-01.png
exon_skip_469364_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470206_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470208_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470470_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470485_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471015_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471018_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471458_LIHC_TCGA-DD-A39Y-01.png
exon_skip_472524_LIHC_TCGA-DD-A39Y-01.png
exon_skip_472955_LIHC_TCGA-DD-A39Y-01.png
exon_skip_475132_LIHC_TCGA-DD-A39Y-01.png
exon_skip_47552_LIHC_TCGA-DD-A39Y-01.png
exon_skip_476535_LIHC_TCGA-DD-A39Y-01.png
exon_skip_477211_LIHC_TCGA-DD-A39Y-01.png
exon_skip_477637_LIHC_TCGA-DD-A39Y-01.png
exon_skip_478117_LIHC_TCGA-DD-A39Y-01.png
exon_skip_47838_LIHC_TCGA-DD-A39Y-01.png
exon_skip_478401_LIHC_TCGA-DD-A39Y-01.png
exon_skip_478926_LIHC_TCGA-DD-A39Y-01.png
exon_skip_483792_LIHC_TCGA-DD-A39Y-01.png
exon_skip_487634_LIHC_TCGA-DD-A39Y-01.png
exon_skip_489575_LIHC_TCGA-DD-A39Y-01.png
exon_skip_490603_LIHC_TCGA-DD-A39Y-01.png
exon_skip_491406_LIHC_TCGA-DD-A39Y-01.png
exon_skip_492075_LIHC_TCGA-DD-A39Y-01.png
exon_skip_492152_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493904_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493918_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493920_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494000_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494030_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494170_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494284_LIHC_TCGA-DD-A39Y-01.png
exon_skip_499522_LIHC_TCGA-DD-A39Y-01.png
exon_skip_503301_LIHC_TCGA-DD-A39Y-01.png
exon_skip_503593_LIHC_TCGA-DD-A39Y-01.png
exon_skip_503665_LIHC_TCGA-DD-A39Y-01.png
exon_skip_504513_LIHC_TCGA-DD-A39Y-01.png
exon_skip_507316_LIHC_TCGA-DD-A39Y-01.png
exon_skip_507513_LIHC_TCGA-DD-A39Y-01.png
exon_skip_50803_LIHC_TCGA-DD-A39Y-01.png
exon_skip_50804_LIHC_TCGA-DD-A39Y-01.png
exon_skip_510119_LIHC_TCGA-DD-A39Y-01.png
exon_skip_512208_LIHC_TCGA-DD-A39Y-01.png
exon_skip_513207_LIHC_TCGA-DD-A39Y-01.png
exon_skip_513240_LIHC_TCGA-DD-A39Y-01.png
exon_skip_5141_LIHC_TCGA-DD-A39Y-01.png
exon_skip_52393_LIHC_TCGA-DD-A39Y-01.png
exon_skip_54542_LIHC_TCGA-DD-A39Y-01.png
exon_skip_55185_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56398_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56399_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56834_LIHC_TCGA-DD-A39Y-01.png
exon_skip_58444_LIHC_TCGA-DD-A39Y-01.png
exon_skip_58452_LIHC_TCGA-DD-A39Y-01.png
exon_skip_5861_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60290_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60294_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60561_LIHC_TCGA-DD-A39Y-01.png
exon_skip_61147_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6331_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6399_LIHC_TCGA-DD-A39Y-01.png
exon_skip_64652_LIHC_TCGA-DD-A39Y-01.png
exon_skip_64657_LIHC_TCGA-DD-A39Y-01.png
exon_skip_65996_LIHC_TCGA-DD-A39Y-01.png
exon_skip_66666_LIHC_TCGA-DD-A39Y-01.png
exon_skip_67549_LIHC_TCGA-DD-A39Y-01.png
exon_skip_68080_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6817_LIHC_TCGA-DD-A39Y-01.png
exon_skip_69250_LIHC_TCGA-DD-A39Y-01.png
exon_skip_70509_LIHC_TCGA-DD-A39Y-01.png
exon_skip_71759_LIHC_TCGA-DD-A39Y-01.png
exon_skip_71774_LIHC_TCGA-DD-A39Y-01.png
exon_skip_73487_LIHC_TCGA-DD-A39Y-01.png
exon_skip_73796_LIHC_TCGA-DD-A39Y-01.png
exon_skip_74728_LIHC_TCGA-DD-A39Y-01.png
exon_skip_75089_LIHC_TCGA-DD-A39Y-01.png
exon_skip_75391_LIHC_TCGA-DD-A39Y-01.png
exon_skip_77962_LIHC_TCGA-DD-A39Y-01.png
exon_skip_78386_LIHC_TCGA-DD-A39Y-01.png
exon_skip_82069_LIHC_TCGA-DD-A39Y-01.png
exon_skip_82070_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83493_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83494_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83512_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83602_LIHC_TCGA-DD-A39Y-01.png
exon_skip_84090_LIHC_TCGA-DD-A39Y-01.png
exon_skip_84528_LIHC_TCGA-DD-A39Y-01.png
exon_skip_87720_LIHC_TCGA-DD-A39Y-01.png
exon_skip_87721_LIHC_TCGA-DD-A39Y-01.png
exon_skip_89597_LIHC_TCGA-DD-A39Y-01.png
exon_skip_93891_LIHC_TCGA-DD-A39Y-01.png
exon_skip_94842_LIHC_TCGA-DD-A39Y-01.png
exon_skip_94844_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96282_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96298_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96557_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96886_LIHC_TCGA-DD-A39Y-01.png
exon_skip_97738_LIHC_TCGA-DD-A39Y-01.png
exon_skip_97739_LIHC_TCGA-DD-A39Y-01.png
exon_skip_9807_LIHC_TCGA-DD-A39Y-01.png
exon_skip_98550_LIHC_TCGA-DD-A39Y-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
MFE319_ENDOMETRIUM	115261234	115261366	115261277	115261277	Missense_Mutation	C	T	p.R769H
OELE_OVARY	115261234	115261366	115261304	115261304	Missense_Mutation	A	G	p.I760T
JHUEM7_ENDOMETRIUM	115261234	115261366	115261306	115261306	Missense_Mutation	A	C	p.N759K
SAS_UPPER_AERODIGESTIVE_TRACT	115261234	115261366	115261316	115261316	Missense_Mutation	C	T	p.R756H
JHUEM7_ENDOMETRIUM	115262200	115262363	115262273	115262273	Missense_Mutation	C	T	p.D715N
BICR18_UPPER_AERODIGESTIVE_TRACT	115262200	115262363	115262291	115262291	Missense_Mutation	T	C	p.I709V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	115262200	115262363	115262291	115262291	Missense_Mutation	T	C	p.I709V
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	115262200	115262363	115262291	115262291	Missense_Mutation	T	C	p.I709V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	115262200	115262363	115262305	115262305	Missense_Mutation	T	C	p.E704G
ESS1_ENDOMETRIUM	115262200	115262363	115262327	115262327	Missense_Mutation	T	G	p.K697Q
HEC108_ENDOMETRIUM	115266504	115266623	115266598	115266598	Missense_Mutation	A	T	p.D593E
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM	115268832	115269007	115268840	115268840	Missense_Mutation	G	C	p.F544L
LNZ308_CENTRAL_NERVOUS_SYSTEM	115268832	115269007	115268840	115268840	Missense_Mutation	G	C	p.F544L
SNGM_ENDOMETRIUM	115268832	115269007	115268893	115268893	Missense_Mutation	T	C	p.K527E
HEC151_ENDOMETRIUM	115268832	115269007	115268917	115268917	Missense_Mutation	G	T	p.L519I
BICR18_UPPER_AERODIGESTIVE_TRACT	115268832	115269007	115268965	115268965	Missense_Mutation	C	T	p.V503I
RD_SOFT_TISSUE	115268832	115269007	115268982	115268982	Missense_Mutation	T	G	p.Q497P
BICR18_UPPER_AERODIGESTIVE_TRACT	115272879	115273043	115272882	115272882	Missense_Mutation	C	G	p.E451D
SW579_THYROID	115272879	115273043	115272899	115272899	Missense_Mutation	G	C	p.P446A
CGTHW1_THYROID	115272879	115273043	115272899	115272899	Missense_Mutation	G	C	p.P446A
SNU81_LARGE_INTESTINE	115272879	115273043	115273002	115273002	Missense_Mutation	T	G	p.K411N
HT115_LARGE_INTESTINE	115272879	115273043	115273024	115273024	Missense_Mutation	C	T	p.R404K
HCC2998_LARGE_INTESTINE	115272879	115273043	115273024	115273024	Missense_Mutation	C	A	p.R404I
KM12_LARGE_INTESTINE	115273129	115273269	115273188	115273188	Missense_Mutation	C	T	p.E378K
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	115273129	115273269	115273211	115273211	Missense_Mutation	A	G	p.V370A
BICR18_UPPER_AERODIGESTIVE_TRACT	115273129	115273269	115273211	115273211	Missense_Mutation	A	G	p.V370A
MCC26_SKIN	115273129	115273269	115273239	115273239	Missense_Mutation	C	T	p.G361S
SNU1033_LARGE_INTESTINE	115273129	115273269	115273252	115273252	Missense_Mutation	C	T	p.M356I
SNU308_BILIARY_TRACT	115273129	115273269	115273252	115273252	Missense_Mutation	C	T	p.M356I
GP5D_LARGE_INTESTINE	115273129	115273269	115273254	115273254	Missense_Mutation	T	C	p.M356V
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	115273129	115273269	115273259	115273259	Missense_Mutation	G	A	p.A354V
HEC1A_ENDOMETRIUM	115275225	115275437	115275260	115275260	Missense_Mutation	T	C	p.N339D
NCIH1299_LUNG	115275225	115275437	115275349	115275349	Missense_Mutation	G	A	p.T309I
R262_CENTRAL_NERVOUS_SYSTEM	115275225	115275437	115275398	115275398	Missense_Mutation	T	G	p.I293L
U251MG_CENTRAL_NERVOUS_SYSTEM	115275225	115275437	115275398	115275398	Missense_Mutation	T	G	p.I293L
DU145_PROSTATE	115282313	115282511	115282366	115282366	Missense_Mutation	A	G	p.L49P
RKO_LARGE_INTESTINE	115268832	115269007	115268943	115268943	Nonsense_Mutation	A	T	p.L510*
SW1783_CENTRAL_NERVOUS_SYSTEM	115268832	115269007	115268950	115268950	Nonsense_Mutation	G	A	p.R508*
SNU407_LARGE_INTESTINE	115268832	115269007	115268971	115268971	Nonsense_Mutation	G	A	p.Q501*
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	115269604	115269711	115269618	115269618	Nonsense_Mutation	G	A	p.Q484*
SNU175_LARGE_INTESTINE	115275225	115275437	115275233	115275233	Nonsense_Mutation	G	A	p.R348*
LS180_LARGE_INTESTINE	115282313	115282511	115282353	115282353	Nonsense_Mutation	A	T	p.C53*
CW2_LARGE_INTESTINE	115266504	115266623	115266504	115266506	Splice_Site	CCT	-	p.E624del
BT549_BREAST	115275225	115275437	115275225	115275241	Splice_Site	CATTTCTCGGGCTTCAT	-	p.NEAREM345fs

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CSDE1

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

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CSDE1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CSDE1

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RelatedDrugs for CSDE1

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 CSDE1

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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Gene summary for CSDE1

Exon skipping events across known transcript of Ensembl for CSDE1 from UCSC genome browser

Gene isoform structures and expression levels for CSDE1

Exon skipping events with PSIs in TCGA for CSDE1

Exon skipping events with PSIs in GTEx for CSDE1

Open reading frame (ORF) annotation in the exon skipping event for CSDE1

Infer the effects of exon skipping event on protein functional features for CSDE1

SNVs in the skipped exons for CSDE1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CSDE1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CSDE1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CSDE1

RelatedDrugs for CSDE1

RelatedDiseases for CSDE1