ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CBLC

Gene summary

Gene information	Gene symbol	CBLC
	Gene ID	23624
	Gene name	Cbl proto-oncogene C
	Synonyms	CBL-3\|CBL-SL\|RNF57
	Cytomap	19q13.32
	Type of gene	protein-coding
	Description	E3 ubiquitin-protein ligase CBL-CCas-Br-M (murine) ecotropic retroviral transforming sequence cCas-Br-M (murine) ectropic retroviral transforming sequence cCbl proto-oncogene C, E3 ubiquitin protein ligaseCbl proto-oncogene, E3 ubiquitin protein ligas
	Modification date	20180523
	UniProtAcc	Q9ULV8
	Context	PubMed: CBLC [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
CBLC	GO:0006511	ubiquitin-dependent protein catabolic process	14661060
CBLC	GO:0007175	negative regulation of epidermal growth factor-activated receptor activity	10362357
CBLC	GO:0016567	protein ubiquitination	14661060
CBLC	GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	10362357
CBLC	GO:0043407	negative regulation of MAP kinase activity	10362357

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Exon skipping events across known transcript of Ensembl for CBLC 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 CBLC

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 CBLC

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_307931	19	45281125:45281541:45284161:45284308:45284463:45284620	45284161:45284308	ENSG00000142273.6	ENST00000341505.4
exon_skip_307943	19	45284161:45284308:45284463:45284620:45285626:45285744	45284463:45284620	ENSG00000142273.6	ENST00000341505.4,ENST00000270279.3
exon_skip_307956	19	45284571:45284620:45285626:45285748:45287520:45287658	45285626:45285748	ENSG00000142273.6	ENST00000270279.3
exon_skip_307957	19	45284463:45284620:45285626:45285748:45293260:45293348	45285626:45285748	ENSG00000142273.6	ENST00000341505.4
exon_skip_307979	19	45285626:45285748:45287520:45287658:45293260:45293348	45287520:45287658	ENSG00000142273.6	ENST00000270279.3
exon_skip_307990	19	45287520:45287658:45293260:45293348:45295639:45295771	45293260:45293348	ENSG00000142273.6	ENST00000270279.3
exon_skip_308002	19	45293260:45293348:45295639:45295771:45296730:45296787	45295639:45295771	ENSG00000142273.6	ENST00000341505.4,ENST00000270279.3
exon_skip_308011	19	45296730:45296877:45297460:45297538:45303637:45303707	45297460:45297538	ENSG00000142273.6	ENST00000341505.4,ENST00000270279.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CBLC

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_307931	19	45281125:45281541:45284161:45284308:45284463:45284620	45284161:45284308	ENSG00000142273.6	ENST00000341505.4
exon_skip_307943	19	45284161:45284308:45284463:45284620:45285626:45285744	45284463:45284620	ENSG00000142273.6	ENST00000270279.3,ENST00000341505.4
exon_skip_307956	19	45284571:45284620:45285626:45285748:45287520:45287658	45285626:45285748	ENSG00000142273.6	ENST00000270279.3
exon_skip_307957	19	45284463:45284620:45285626:45285748:45293260:45293348	45285626:45285748	ENSG00000142273.6	ENST00000341505.4
exon_skip_307979	19	45285626:45285748:45287520:45287658:45293260:45293348	45287520:45287658	ENSG00000142273.6	ENST00000270279.3
exon_skip_307990	19	45287520:45287658:45293260:45293348:45295639:45295771	45293260:45293348	ENSG00000142273.6	ENST00000270279.3
exon_skip_308002	19	45293260:45293348:45295639:45295771:45296730:45296787	45295639:45295771	ENSG00000142273.6	ENST00000270279.3,ENST00000341505.4
exon_skip_308011	19	45296730:45296877:45297460:45297538:45303637:45303707	45297460:45297538	ENSG00000142273.6	ENST00000270279.3,ENST00000341505.4

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 CBLC

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
ENST00000270279	45284463	45284620	Frame-shift
ENST00000270279	45285626	45285748	Frame-shift
ENST00000270279	45293260	45293348	Frame-shift
ENST00000270279	45287520	45287658	In-frame
ENST00000270279	45295639	45295771	In-frame
ENST00000270279	45297460	45297538	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
ENST00000270279	45284463	45284620	Frame-shift
ENST00000270279	45285626	45285748	Frame-shift
ENST00000270279	45293260	45293348	Frame-shift
ENST00000270279	45287520	45287658	In-frame
ENST00000270279	45295639	45295771	In-frame
ENST00000270279	45297460	45297538	In-frame

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

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
ENST00000270279	1596	474	45287520	45287658	843	980	260	305
ENST00000270279	1596	474	45295639	45295771	1069	1200	335	379
ENST00000270279	1596	474	45297460	45297538	1348	1425	428	454

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
ENST00000270279	1596	474	45287520	45287658	843	980	260	305
ENST00000270279	1596	474	45295639	45295771	1069	1200	335	379
ENST00000270279	1596	474	45297460	45297538	1348	1425	428	454

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
Q9ULV8	260	305	261	306	Alternative sequence	ID=VSP_005732;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10362357;Dbxref=PMID:10362357
Q9ULV8	260	305	260	265	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3VRP
Q9ULV8	260	305	267	269	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3VRP
Q9ULV8	260	305	273	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3VRP
Q9ULV8	260	305	284	287	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3VRP
Q9ULV8	260	305	264	264	Binding site	Note=Phosphotyrosine
Q9ULV8	260	305	1	474	Chain	ID=PRO_0000055866;Note=E3 ubiquitin-protein ligase CBL-C
Q9ULV8	260	305	7	321	Domain	Note=Cbl-PTB;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00839
Q9ULV8	260	305	294	303	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3VRP
Q9ULV8	260	305	264	264	Mutagenesis	Note=Abolishes interaction with EGFR. Decreases interaction with SRC and abolishes SRC ubiquitination. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22888118;Dbxref=PMID:22888118
Q9ULV8	260	305	265	265	Mutagenesis	Note=Enhances interaction with EGFR and SRC as well as SRC ubiquitination. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22888118;Dbxref=PMID:22888118
Q9ULV8	260	305	266	266	Mutagenesis	Note=Decreases interactions with EGFR and SRC as well as SRC ubiquitination. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22888118;Dbxref=PMID:22888118
Q9ULV8	260	305	268	268	Mutagenesis	Note=Abolishes interaction with EGFR. Decreases interaction with and ubiquitination of SRC. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22888118;Dbxref=PMID:22888118
Q9ULV8	260	305	276	276	Mutagenesis	Note=No effect on interaction with RET. Binds slightly to SRC%2C this interaction is independent of SRC phosphorylation. Strongly decreases SRC ubiquitination. Abolishes interaction with EGFR. G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidenc
Q9ULV8	260	305	219	321	Region	Note=SH2-like
Q9ULV8	335	379	1	474	Chain	ID=PRO_0000055866;Note=E3 ubiquitin-protein ligase CBL-C
Q9ULV8	335	379	341	341	Modified residue	Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:20525694,ECO:0000269\|PubMed:23145173;Dbxref=PMID:20525694,PMID:23145173
Q9ULV8	335	379	341	341	Mutagenesis	Note=Induces E3 activity and autoubiquitination. Releases ubiquitin-conjugating enzyme E2 UBE2D2 faster. Y->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14661060,ECO:0000269\|PubMed:20525694,ECO:0000269\|PubMed:23145173;Db
Q9ULV8	335	379	341	341	Mutagenesis	Note=Abolishes activation by EGF stimulation and enhancement by TGFB1I1 of E3 activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14661060,ECO:0000269\|PubMed:20525694,ECO:0000269\|PubMed:23145173;Dbxref=PMID:1466106
Q9ULV8	335	379	341	341	Mutagenesis	Note=Abolishes E3 activity. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14661060,ECO:0000269\|PubMed:20525694,ECO:0000269\|PubMed:23145173;Dbxref=PMID:14661060,PMID:20525694,PMID:23145173
Q9ULV8	335	379	351	351	Mutagenesis	Note=No effect on TGFB1I1 and SRC interactions. Abolishes SRC ubiquitination. Abolishes interaction with TGFB1I1%3B when associated with A-366. Abolishes interaction with RET and inhibition of RET degradation. C->A;Ontology_term=ECO:0000269,ECO:0000269,EC
Q9ULV8	335	379	366	366	Mutagenesis	Note=Abolishes interaction with TGFB1I1. Abolishes interaction with TGFB1I1%3B when associated with A-351. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23145173;Dbxref=PMID:23145173
Q9ULV8	335	379	322	350	Region	Note=Linker
Q9ULV8	335	379	351	474	Region	Note=Interaction with RET;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18753381;Dbxref=PMID:18753381
Q9ULV8	335	379	351	390	Zinc finger	Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00175
Q9ULV8	428	454	1	474	Chain	ID=PRO_0000055866;Note=E3 ubiquitin-protein ligase CBL-C
Q9ULV8	428	454	351	474	Region	Note=Interaction with RET;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18753381;Dbxref=PMID:18753381

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
Q9ULV8	260	305	261	306	Alternative sequence	ID=VSP_005732;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10362357;Dbxref=PMID:10362357
Q9ULV8	260	305	260	265	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3VRP
Q9ULV8	260	305	267	269	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3VRP
Q9ULV8	260	305	273	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3VRP
Q9ULV8	260	305	284	287	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3VRP
Q9ULV8	260	305	264	264	Binding site	Note=Phosphotyrosine
Q9ULV8	260	305	1	474	Chain	ID=PRO_0000055866;Note=E3 ubiquitin-protein ligase CBL-C
Q9ULV8	260	305	7	321	Domain	Note=Cbl-PTB;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00839
Q9ULV8	260	305	294	303	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3VRP
Q9ULV8	260	305	264	264	Mutagenesis	Note=Abolishes interaction with EGFR. Decreases interaction with SRC and abolishes SRC ubiquitination. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22888118;Dbxref=PMID:22888118
Q9ULV8	260	305	265	265	Mutagenesis	Note=Enhances interaction with EGFR and SRC as well as SRC ubiquitination. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22888118;Dbxref=PMID:22888118
Q9ULV8	260	305	266	266	Mutagenesis	Note=Decreases interactions with EGFR and SRC as well as SRC ubiquitination. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22888118;Dbxref=PMID:22888118
Q9ULV8	260	305	268	268	Mutagenesis	Note=Abolishes interaction with EGFR. Decreases interaction with and ubiquitination of SRC. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22888118;Dbxref=PMID:22888118
Q9ULV8	260	305	276	276	Mutagenesis	Note=No effect on interaction with RET. Binds slightly to SRC%2C this interaction is independent of SRC phosphorylation. Strongly decreases SRC ubiquitination. Abolishes interaction with EGFR. G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidenc
Q9ULV8	260	305	219	321	Region	Note=SH2-like
Q9ULV8	335	379	1	474	Chain	ID=PRO_0000055866;Note=E3 ubiquitin-protein ligase CBL-C
Q9ULV8	335	379	341	341	Modified residue	Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:20525694,ECO:0000269\|PubMed:23145173;Dbxref=PMID:20525694,PMID:23145173
Q9ULV8	335	379	341	341	Mutagenesis	Note=Induces E3 activity and autoubiquitination. Releases ubiquitin-conjugating enzyme E2 UBE2D2 faster. Y->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14661060,ECO:0000269\|PubMed:20525694,ECO:0000269\|PubMed:23145173;Db
Q9ULV8	335	379	341	341	Mutagenesis	Note=Abolishes activation by EGF stimulation and enhancement by TGFB1I1 of E3 activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14661060,ECO:0000269\|PubMed:20525694,ECO:0000269\|PubMed:23145173;Dbxref=PMID:1466106
Q9ULV8	335	379	341	341	Mutagenesis	Note=Abolishes E3 activity. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14661060,ECO:0000269\|PubMed:20525694,ECO:0000269\|PubMed:23145173;Dbxref=PMID:14661060,PMID:20525694,PMID:23145173
Q9ULV8	335	379	351	351	Mutagenesis	Note=No effect on TGFB1I1 and SRC interactions. Abolishes SRC ubiquitination. Abolishes interaction with TGFB1I1%3B when associated with A-366. Abolishes interaction with RET and inhibition of RET degradation. C->A;Ontology_term=ECO:0000269,ECO:0000269,EC
Q9ULV8	335	379	366	366	Mutagenesis	Note=Abolishes interaction with TGFB1I1. Abolishes interaction with TGFB1I1%3B when associated with A-351. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23145173;Dbxref=PMID:23145173
Q9ULV8	335	379	322	350	Region	Note=Linker
Q9ULV8	335	379	351	474	Region	Note=Interaction with RET;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18753381;Dbxref=PMID:18753381
Q9ULV8	335	379	351	390	Zinc finger	Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00175
Q9ULV8	428	454	1	474	Chain	ID=PRO_0000055866;Note=E3 ubiquitin-protein ligase CBL-C
Q9ULV8	428	454	351	474	Region	Note=Interaction with RET;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18753381;Dbxref=PMID:18753381

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SNVs in the skipped exons for CBLC

- 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.

CBLC_CESC_exon_skip_308002_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-A8-A06X-01	exon_skip_307943	45284464	45284620	45284602	45284602	Frame_Shift_Del	C	-	p.F214fs
STAD	TCGA-VQ-A8P2-01	exon_skip_308011	45297461	45297538	45297502	45297503	Frame_Shift_Ins	-	C	p.L442fs
STAD	TCGA-VQ-A8P2-01	exon_skip_308011	45297461	45297538	45297502	45297503	Frame_Shift_Ins	-	C	p.LP442fs
PRAD	TCGA-CH-5761-01	exon_skip_307931	45284162	45284308	45284300	45284300	Nonsense_Mutation	C	A	p.C164X
CESC	TCGA-EX-A69M-01	exon_skip_308002	45295640	45295771	45295767	45295767	Nonsense_Mutation	G	A	p.W378*
SKCM	TCGA-EB-A5SF-01	exon_skip_307957 exon_skip_307956	45285627	45285748	45285749	45285749	Splice_Site	G	C	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-EX-A69M-01
	Cancer type: CESC
	ESID: exon_skip_308002
	Skipped exon start: 45295640
	Skipped exon end: 45295771
	Mutation start: 45295767
	Mutation end: 45295767
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W378*
exon_skip_308002_CESC_TCGA-EX-A69M-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
NCIH2023_LUNG	45284162	45284308	45284205	45284205	Missense_Mutation	G	A	p.A133T
MDST8_LARGE_INTESTINE	45284162	45284308	45284263	45284263	Missense_Mutation	C	T	p.T152I
NCIH2342_LUNG	45284464	45284620	45284526	45284526	Missense_Mutation	G	T	p.G188V
HEC265_ENDOMETRIUM	45284464	45284620	45284580	45284580	Missense_Mutation	T	C	p.V206A
BHT101_THYROID	45285627	45285748	45285708	45285708	Missense_Mutation	G	A	p.V247I
SNU8_OVARY	45285627	45285748	45285720	45285720	Missense_Mutation	C	A	p.L251M
MELHO_SKIN	45287521	45287658	45287523	45287523	Missense_Mutation	A	T	p.Y261F
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	45287521	45287658	45287543	45287543	Missense_Mutation	A	G	p.T268A
A253_SALIVARY_GLAND	45287521	45287658	45287547	45287547	Missense_Mutation	G	T	p.R269L
IGROV1_OVARY	45287521	45287658	45287547	45287547	Missense_Mutation	G	A	p.R269H
SNU61_LARGE_INTESTINE	45287521	45287658	45287579	45287579	Missense_Mutation	T	C	p.S280P
HUO3N1_BONE	45287521	45287658	45287579	45287579	Missense_Mutation	T	C	p.S280P
LS411N_LARGE_INTESTINE	45287521	45287658	45287589	45287589	Missense_Mutation	G	A	p.S283N
HEC251_ENDOMETRIUM	45295640	45295771	45295720	45295720	Missense_Mutation	G	T	p.K362N
SNU175_LARGE_INTESTINE	45297461	45297538	45297477	45297477	Missense_Mutation	C	A	p.P434H
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	45287521	45287658	45287627	45287627	Nonsense_Mutation	C	T	p.Q296*

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

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 CBLC

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

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RelatedDrugs for CBLC

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 CBLC

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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