ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SRSF5

Gene summary

Gene information	Gene symbol	SRSF5
	Gene ID	6430
	Gene name	serine and arginine rich splicing factor 5
	Synonyms	HRS\|SFRS5\|SRP40
	Cytomap	14q24.1
	Type of gene	protein-coding
	Description	serine/arginine-rich splicing factor 5SR splicing factor 5delayed-early protein HRSpre-mRNA-splicing factor SRP40splicing factor, arginine/serine-rich 5
	Modification date	20180523
	UniProtAcc	Q13243
	Context	PubMed: SRSF5 [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 SRSF5 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 SRSF5

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 SRSF5

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_107749	14	70235329:70235391:70235514:70235613:70235898:70235968	70235514:70235613	ENSG00000100650.11	ENST00000554021.1,ENST00000553635.1,ENST00000556184.1,ENST00000394366.2,ENST00000555547.1,ENST00000553521.1,ENST00000555349.1,ENST00000451983.2,ENST00000557154.1,ENST00000553369.1
exon_skip_107751	14	70235329:70235391:70235514:70235968:70237183:70237257	70235514:70235968	ENSG00000100650.11	ENST00000557460.1,ENST00000556587.1
exon_skip_107753	14	70235514:70235613:70235898:70235968:70237183:70237257	70235898:70235968	ENSG00000100650.11	ENST00000553635.1,ENST00000394366.2,ENST00000553521.1,ENST00000557154.1
exon_skip_107755	14	70235514:70235613:70235898:70237257:70237711:70237822	70235898:70237257	ENSG00000100650.11	ENST00000556184.1
exon_skip_107762	14	70237183:70237257:70237711:70237822:70237910:70237974	70237711:70237822	ENSG00000100650.11	ENST00000553635.1,ENST00000556184.1,ENST00000556647.1,ENST00000394366.2,ENST00000555547.1,ENST00000556330.1,ENST00000553521.1,ENST00000557154.1,ENST00000554465.1
exon_skip_107763	14	70237183:70237257:70237711:70237822:70237913:70238722	70237711:70237822	ENSG00000100650.11	ENST00000556587.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SRSF5

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_107749	14	70235329:70235391:70235514:70235613:70235898:70235968	70235514:70235613	ENSG00000100650.11	ENST00000553521.1,ENST00000394366.2,ENST00000553369.1,ENST00000557154.1,ENST00000451983.2,ENST00000553635.1,ENST00000556184.1,ENST00000555547.1,ENST00000555349.1,ENST00000554021.1
exon_skip_107751	14	70235329:70235391:70235514:70235968:70237183:70237257	70235514:70235968	ENSG00000100650.11	ENST00000557460.1,ENST00000556587.1
exon_skip_107753	14	70235514:70235613:70235898:70235968:70237183:70237257	70235898:70235968	ENSG00000100650.11	ENST00000553521.1,ENST00000394366.2,ENST00000557154.1,ENST00000553635.1
exon_skip_107755	14	70235514:70235613:70235898:70237257:70237711:70237822	70235898:70237257	ENSG00000100650.11	ENST00000556184.1
exon_skip_107762	14	70237183:70237257:70237711:70237822:70237910:70237974	70237711:70237822	ENSG00000100650.11	ENST00000553521.1,ENST00000394366.2,ENST00000554465.1,ENST00000557154.1,ENST00000553635.1,ENST00000556184.1,ENST00000555547.1,ENST00000556330.1,ENST00000556647.1
exon_skip_107763	14	70237183:70237257:70237711:70237822:70237913:70238722	70237711:70237822	ENSG00000100650.11	ENST00000556587.1

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 SRSF5

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
ENST00000394366	70235898	70235968	Frame-shift
ENST00000553521	70235898	70235968	Frame-shift
ENST00000557154	70235898	70235968	Frame-shift
ENST00000394366	70235514	70235613	In-frame
ENST00000553521	70235514	70235613	In-frame
ENST00000557154	70235514	70235613	In-frame
ENST00000394366	70237711	70237822	In-frame
ENST00000553521	70237711	70237822	In-frame
ENST00000557154	70237711	70237822	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
ENST00000394366	70235898	70235968	Frame-shift
ENST00000553521	70235898	70235968	Frame-shift
ENST00000557154	70235898	70235968	Frame-shift
ENST00000394366	70235514	70235613	In-frame
ENST00000553521	70235514	70235613	In-frame
ENST00000557154	70235514	70235613	In-frame
ENST00000394366	70237711	70237822	In-frame
ENST00000553521	70237711	70237822	In-frame
ENST00000557154	70237711	70237822	In-frame

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Infer the effects of exon skipping event on protein functional features for SRSF5

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
ENST00000394366	1655	272	70235514	70235613	505	603	66	98
ENST00000553521	2832	272	70235514	70235613	1651	1749	66	98
ENST00000557154	1517	272	70235514	70235613	349	447	66	98
ENST00000394366	1655	272	70237711	70237822	748	858	147	183
ENST00000553521	2832	272	70237711	70237822	1894	2004	147	183
ENST00000557154	1517	272	70237711	70237822	592	702	147	183

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
ENST00000394366	1655	272	70235514	70235613	505	603	66	98
ENST00000553521	2832	272	70235514	70235613	1651	1749	66	98
ENST00000557154	1517	272	70235514	70235613	349	447	66	98
ENST00000394366	1655	272	70237711	70237822	748	858	147	183
ENST00000553521	2832	272	70237711	70237822	1894	2004	147	183
ENST00000557154	1517	272	70237711	70237822	592	702	147	183

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
Q13243	66	98	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	66	98	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	66	98	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	66	98	78	83	Compositional bias	Note=Gly-rich (hinge region)
Q13243	66	98	78	83	Compositional bias	Note=Gly-rich (hinge region)
Q13243	66	98	78	83	Compositional bias	Note=Gly-rich (hinge region)
Q13243	66	98	4	74	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	66	98	4	74	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	66	98	4	74	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	66	98	86	86	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q13243	66	98	86	86	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q13243	66	98	86	86	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q13243	147	183	108	272	Alternative sequence	ID=VSP_005865;Note=In isoform SRP40-2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:19054851,ECO:0000303\|PubMed:7556075,ECO:0000303\|Re
Q13243	147	183	108	272	Alternative sequence	ID=VSP_005865;Note=In isoform SRP40-2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:19054851,ECO:0000303\|PubMed:7556075,ECO:0000303\|Re
Q13243	147	183	108	272	Alternative sequence	ID=VSP_005865;Note=In isoform SRP40-2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:19054851,ECO:0000303\|PubMed:7556075,ECO:0000303\|Re
Q13243	147	183	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	147	183	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	147	183	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	147	183	182	267	Compositional bias	Note=Arg/Ser-rich (RS domain)
Q13243	147	183	182	267	Compositional bias	Note=Arg/Ser-rich (RS domain)
Q13243	147	183	182	267	Compositional bias	Note=Arg/Ser-rich (RS domain)
Q13243	147	183	108	181	Domain	Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	147	183	108	181	Domain	Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	147	183	108	181	Domain	Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	147	183	167	167	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q13243	147	183	167	167	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q13243	147	183	167	167	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q13243	147	183	160	160	Natural variant	ID=VAR_014713;Note=A->S;Dbxref=dbSNP:rs1057683
Q13243	147	183	160	160	Natural variant	ID=VAR_014713;Note=A->S;Dbxref=dbSNP:rs1057683
Q13243	147	183	160	160	Natural variant	ID=VAR_014713;Note=A->S;Dbxref=dbSNP:rs1057683

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
Q13243	66	98	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	66	98	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	66	98	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	66	98	78	83	Compositional bias	Note=Gly-rich (hinge region)
Q13243	66	98	78	83	Compositional bias	Note=Gly-rich (hinge region)
Q13243	66	98	78	83	Compositional bias	Note=Gly-rich (hinge region)
Q13243	66	98	4	74	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	66	98	4	74	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	66	98	4	74	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	66	98	86	86	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q13243	66	98	86	86	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q13243	66	98	86	86	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q13243	147	183	108	272	Alternative sequence	ID=VSP_005865;Note=In isoform SRP40-2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:19054851,ECO:0000303\|PubMed:7556075,ECO:0000303\|Re
Q13243	147	183	108	272	Alternative sequence	ID=VSP_005865;Note=In isoform SRP40-2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:19054851,ECO:0000303\|PubMed:7556075,ECO:0000303\|Re
Q13243	147	183	108	272	Alternative sequence	ID=VSP_005865;Note=In isoform SRP40-2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:19054851,ECO:0000303\|PubMed:7556075,ECO:0000303\|Re
Q13243	147	183	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	147	183	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	147	183	1	272	Chain	ID=PRO_0000081927;Note=Serine/arginine-rich splicing factor 5
Q13243	147	183	182	267	Compositional bias	Note=Arg/Ser-rich (RS domain)
Q13243	147	183	182	267	Compositional bias	Note=Arg/Ser-rich (RS domain)
Q13243	147	183	182	267	Compositional bias	Note=Arg/Ser-rich (RS domain)
Q13243	147	183	108	181	Domain	Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	147	183	108	181	Domain	Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	147	183	108	181	Domain	Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q13243	147	183	167	167	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q13243	147	183	167	167	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q13243	147	183	167	167	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q13243	147	183	160	160	Natural variant	ID=VAR_014713;Note=A->S;Dbxref=dbSNP:rs1057683
Q13243	147	183	160	160	Natural variant	ID=VAR_014713;Note=A->S;Dbxref=dbSNP:rs1057683
Q13243	147	183	160	160	Natural variant	ID=VAR_014713;Note=A->S;Dbxref=dbSNP:rs1057683

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SNVs in the skipped exons for SRSF5

- 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.

SRSF5_CESC_exon_skip_107751_psi_boxplot.png
boxplot

SRSF5_CESC_exon_skip_107755_psi_boxplot.png
boxplot

SRSF5_SKCM_exon_skip_107751_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
BLCA	TCGA-XF-AAN5-01	exon_skip_107749	70235515	70235613	70235600	70235600	Nonsense_Mutation	C	T	p.R95*
BLCA	TCGA-XF-AAN5-01	exon_skip_107751	70235515	70235968	70235600	70235600	Nonsense_Mutation	C	T	p.R95*
SKCM	TCGA-D3-A5GR-06	exon_skip_107749	70235515	70235613	70235600	70235600	Nonsense_Mutation	C	T	p.R95*
SKCM	TCGA-D3-A5GR-06	exon_skip_107749	70235515	70235613	70235600	70235600	Nonsense_Mutation	C	T	p.R95X
SKCM	TCGA-D3-A5GR-06	exon_skip_107751	70235515	70235968	70235600	70235600	Nonsense_Mutation	C	T	p.R95*
SKCM	TCGA-D3-A5GR-06	exon_skip_107751	70235515	70235968	70235600	70235600	Nonsense_Mutation	C	T	p.R95X
CESC	TCGA-EK-A2R8-01	exon_skip_107751	70235515	70235968	70235952	70235952	Nonsense_Mutation	C	G	p.S117*
CESC	TCGA-EK-A2R8-01	exon_skip_107753	70235899	70235968	70235952	70235952	Nonsense_Mutation	C	G	p.S117*
CESC	TCGA-EK-A2R8-01	exon_skip_107755	70235899	70237257	70235952	70235952	Nonsense_Mutation	C	G	p.S117*
GBM	TCGA-87-5896-01	exon_skip_107762 exon_skip_107763	70237712	70237822	70237710	70237710	Splice_Site	A	T	p.G147_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-EK-A2R8-01
	Cancer type: CESC
	ESID: exon_skip_107753
	Skipped exon start: 70235899
	Skipped exon end: 70235968
	Mutation start: 70235952
	Mutation end: 70235952
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S117*
	Sample: TCGA-EK-A2R8-01
	Cancer type: CESC
	ESID: exon_skip_107751
	Skipped exon start: 70235515
	Skipped exon end: 70235968
	Mutation start: 70235952
	Mutation end: 70235952
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S117*
	Sample: TCGA-EK-A2R8-01
	Cancer type: CESC
	ESID: exon_skip_107755
	Skipped exon start: 70235899
	Skipped exon end: 70237257
	Mutation start: 70235952
	Mutation end: 70235952
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S117*
exon_skip_107751_CESC_TCGA-EK-A2R8-01.png
exon_skip_107755_CESC_TCGA-EK-A2R8-01.png
	Sample: TCGA-EK-A2R8-01
	Cancer type: CESC
	ESID: exon_skip_107753
	Skipped exon start: 70235899
	Skipped exon end: 70235968
	Mutation start: 70235952
	Mutation end: 70235952
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S117*
	Sample: TCGA-EK-A2R8-01
	Cancer type: CESC
	ESID: exon_skip_107751
	Skipped exon start: 70235515
	Skipped exon end: 70235968
	Mutation start: 70235952
	Mutation end: 70235952
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S117*
	Sample: TCGA-EK-A2R8-01
	Cancer type: CESC
	ESID: exon_skip_107755
	Skipped exon start: 70235899
	Skipped exon end: 70237257
	Mutation start: 70235952
	Mutation end: 70235952
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S117*
exon_skip_107751_CESC_TCGA-EK-A2R8-01.png
exon_skip_107755_CESC_TCGA-EK-A2R8-01.png
	Sample: TCGA-D3-A5GR-06
	Cancer type: SKCM
	ESID: exon_skip_107751
	Skipped exon start: 70235515
	Skipped exon end: 70235968
	Mutation start: 70235600
	Mutation end: 70235600
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R95X
	Sample: TCGA-D3-A5GR-06
	Cancer type: SKCM
	ESID: exon_skip_107749
	Skipped exon start: 70235515
	Skipped exon end: 70235613
	Mutation start: 70235600
	Mutation end: 70235600
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R95X
	Sample: TCGA-D3-A5GR-06
	Cancer type: SKCM
	ESID: exon_skip_107751
	Skipped exon start: 70235515
	Skipped exon end: 70235968
	Mutation start: 70235600
	Mutation end: 70235600
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R95*
	Sample: TCGA-D3-A5GR-06
	Cancer type: SKCM
	ESID: exon_skip_107749
	Skipped exon start: 70235515
	Skipped exon end: 70235613
	Mutation start: 70235600
	Mutation end: 70235600
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R95*
exon_skip_107751_SKCM_TCGA-D3-A5GR-06.png
exon_skip_369483_SKCM_TCGA-D3-A5GR-06.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
SW48_LARGE_INTESTINE	70235515	70235968	70235538	70235538	Missense_Mutation	C	T	p.A74V
SW48_LARGE_INTESTINE	70235515	70235613	70235538	70235538	Missense_Mutation	C	T	p.A74V
SNU81_LARGE_INTESTINE	70235899	70237257	70237239	70237239	Missense_Mutation	G	A	p.R141Q
HT115_LARGE_INTESTINE	70237712	70237822	70237745	70237745	Missense_Mutation	G	T	p.K158N
NCIH2882_LUNG	70237712	70237822	70237753	70237753	Missense_Mutation	T	C	p.I161T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SRSF5

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 SRSF5

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SRSF5

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RelatedDrugs for SRSF5

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 SRSF5

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
SRSF5	C0023895	Liver diseases	1	CTD_human
SRSF5	C0235032	Neurotoxicity Syndromes	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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