ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TFEB

Gene summary

Gene information	Gene symbol	TFEB
	Gene ID	7942
	Gene name	transcription factor EB
	Synonyms	ALPHATFEB\|BHLHE35\|TCFEB
	Cytomap	6p21.1
	Type of gene	protein-coding
	Description	transcription factor EBT-cell transcription factor EBclass E basic helix-loop-helix protein 35
	Modification date	20180522
	UniProtAcc	P19484
	Context	PubMed: TFEB [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
TFEB	GO:0045944	positive regulation of transcription by RNA polymerase II	19556463

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Exon skipping events across known transcript of Ensembl for TFEB 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 TFEB

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 TFEB

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_459371	6	41653827:41653975:41654831:41654907:41655490:41655547	41654831:41654907	ENSG00000112561.13	ENST00000406563.2,ENST00000230323.4,ENST00000358871.2,ENST00000420312.1,ENST00000403298.4,ENST00000343317.6,ENST00000373033.1
exon_skip_459372	6	41657468:41657549:41658400:41658655:41658738:41658780	41658400:41658655	ENSG00000112561.13	ENST00000416140.1,ENST00000230323.4,ENST00000358871.2,ENST00000403298.4,ENST00000419396.1,ENST00000419574.1,ENST00000394283.1,ENST00000343317.6,ENST00000373033.1
exon_skip_459375	6	41658915:41658973:41673384:41673490:41673654:41673678	41673384:41673490	ENSG00000112561.13	ENST00000445214.1
exon_skip_459377	6	41658915:41658973:41700386:41700477:41701401:41701428	41700386:41700477	ENSG00000112561.13	ENST00000424495.1
exon_skip_459380	6	41658915:41658973:41700386:41700505:41702637:41702798	41700386:41700505	ENSG00000112561.13	ENST00000230323.4,ENST00000420312.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TFEB

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_459371	6	41653827:41653975:41654831:41654907:41655490:41655547	41654831:41654907	ENSG00000112561.13	ENST00000406563.2,ENST00000343317.6,ENST00000230323.4,ENST00000358871.2,ENST00000403298.4,ENST00000420312.1,ENST00000373033.1
exon_skip_459372	6	41657468:41657549:41658400:41658655:41658738:41658780	41658400:41658655	ENSG00000112561.13	ENST00000343317.6,ENST00000230323.4,ENST00000358871.2,ENST00000403298.4,ENST00000373033.1,ENST00000394283.1,ENST00000419396.1,ENST00000416140.1,ENST00000419574.1
exon_skip_459375	6	41658915:41658973:41673384:41673490:41673654:41673678	41673384:41673490	ENSG00000112561.13	ENST00000445214.1
exon_skip_459377	6	41658915:41658973:41700386:41700477:41701401:41701428	41700386:41700477	ENSG00000112561.13	ENST00000424495.1
exon_skip_459380	6	41658915:41658973:41700386:41700505:41702637:41702798	41700386:41700505	ENSG00000112561.13	ENST00000230323.4,ENST00000420312.1

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 TFEB

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
ENST00000230323	41700386	41700505	3UTR-3UTR
ENST00000230323	41654831	41654907	Frame-shift
ENST00000373033	41654831	41654907	Frame-shift
ENST00000403298	41654831	41654907	Frame-shift
ENST00000230323	41658400	41658655	In-frame
ENST00000373033	41658400	41658655	In-frame
ENST00000403298	41658400	41658655	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
ENST00000230323	41700386	41700505	3UTR-3UTR
ENST00000230323	41654831	41654907	Frame-shift
ENST00000373033	41654831	41654907	Frame-shift
ENST00000403298	41654831	41654907	Frame-shift
ENST00000230323	41658400	41658655	In-frame
ENST00000373033	41658400	41658655	In-frame
ENST00000403298	41658400	41658655	In-frame

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

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
ENST00000230323	2371	476	41658400	41658655	516	770	71	156
ENST00000373033	2348	476	41658400	41658655	495	749	71	156
ENST00000403298	2204	476	41658400	41658655	350	604	71	156

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
ENST00000230323	2371	476	41658400	41658655	516	770	71	156
ENST00000373033	2348	476	41658400	41658655	495	749	71	156
ENST00000403298	2204	476	41658400	41658655	350	604	71	156

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
P19484	71	156	72	156	Alternative sequence	ID=VSP_002159;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2115126;Dbxref=PMID:15489334,PMID:2115126
P19484	71	156	72	156	Alternative sequence	ID=VSP_002159;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2115126;Dbxref=PMID:15489334,PMID:2115126
P19484	71	156	72	156	Alternative sequence	ID=VSP_002159;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2115126;Dbxref=PMID:15489334,PMID:2115126
P19484	71	156	1	476	Chain	ID=PRO_0000127473;Note=Transcription factor EB
P19484	71	156	1	476	Chain	ID=PRO_0000127473;Note=Transcription factor EB
P19484	71	156	1	476	Chain	ID=PRO_0000127473;Note=Transcription factor EB
P19484	71	156	109	109	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	109	109	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	109	109	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	114	114	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	114	114	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	114	114	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	122	122	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
P19484	71	156	122	122	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
P19484	71	156	122	122	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
P19484	71	156	138	138	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	138	138	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	138	138	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	142	142	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	142	142	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	142	142	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	156	165	Region	Note=Strong transcription activation domain;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19484	71	156	156	165	Region	Note=Strong transcription activation domain;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19484	71	156	156	165	Region	Note=Strong transcription activation domain;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19484	71	156	106	106	Sequence conflict	Note=A->AA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P19484	71	156	106	106	Sequence conflict	Note=A->AA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P19484	71	156	106	106	Sequence conflict	Note=A->AA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P19484	71	156	113	141	Sequence conflict	Note=GSPKPPPAASPGVRAGHVLSSSAGNSAPN->ALRNPHQPPPQGCELDTCCPPPLATVLPI;Ontology_term=ECO:0000305;evidence=ECO:0000305
P19484	71	156	113	141	Sequence conflict	Note=GSPKPPPAASPGVRAGHVLSSSAGNSAPN->ALRNPHQPPPQGCELDTCCPPPLATVLPI;Ontology_term=ECO:0000305;evidence=ECO:0000305
P19484	71	156	113	141	Sequence conflict	Note=GSPKPPPAASPGVRAGHVLSSSAGNSAPN->ALRNPHQPPPQGCELDTCCPPPLATVLPI;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
P19484	71	156	72	156	Alternative sequence	ID=VSP_002159;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2115126;Dbxref=PMID:15489334,PMID:2115126
P19484	71	156	72	156	Alternative sequence	ID=VSP_002159;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2115126;Dbxref=PMID:15489334,PMID:2115126
P19484	71	156	72	156	Alternative sequence	ID=VSP_002159;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2115126;Dbxref=PMID:15489334,PMID:2115126
P19484	71	156	1	476	Chain	ID=PRO_0000127473;Note=Transcription factor EB
P19484	71	156	1	476	Chain	ID=PRO_0000127473;Note=Transcription factor EB
P19484	71	156	1	476	Chain	ID=PRO_0000127473;Note=Transcription factor EB
P19484	71	156	109	109	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	109	109	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	109	109	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	114	114	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	114	114	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	114	114	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9R210
P19484	71	156	122	122	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
P19484	71	156	122	122	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
P19484	71	156	122	122	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
P19484	71	156	138	138	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	138	138	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	138	138	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	142	142	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	142	142	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	142	142	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P19484	71	156	156	165	Region	Note=Strong transcription activation domain;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19484	71	156	156	165	Region	Note=Strong transcription activation domain;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19484	71	156	156	165	Region	Note=Strong transcription activation domain;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19484	71	156	106	106	Sequence conflict	Note=A->AA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P19484	71	156	106	106	Sequence conflict	Note=A->AA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P19484	71	156	106	106	Sequence conflict	Note=A->AA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P19484	71	156	113	141	Sequence conflict	Note=GSPKPPPAASPGVRAGHVLSSSAGNSAPN->ALRNPHQPPPQGCELDTCCPPPLATVLPI;Ontology_term=ECO:0000305;evidence=ECO:0000305
P19484	71	156	113	141	Sequence conflict	Note=GSPKPPPAASPGVRAGHVLSSSAGNSAPN->ALRNPHQPPPQGCELDTCCPPPLATVLPI;Ontology_term=ECO:0000305;evidence=ECO:0000305
P19484	71	156	113	141	Sequence conflict	Note=GSPKPPPAASPGVRAGHVLSSSAGNSAPN->ALRNPHQPPPQGCELDTCCPPPLATVLPI;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for TFEB

- 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.

TFEB_LIHC_exon_skip_459372_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
COAD	TCGA-A6-2676-01	exon_skip_459371	41654832	41654907	41654896	41654896	Nonsense_Mutation	G	A	p.R247X
LIHC	TCGA-RC-A6M6-01	exon_skip_459372	41658401	41658655	41658400	41658400	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-RC-A6M6-01
	Cancer type: LIHC
	ESID: exon_skip_459372
	Skipped exon start: 41658401
	Skipped exon end: 41658655
	Mutation start: 41658400
	Mutation end: 41658400
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: .
exon_skip_363591_LIHC_TCGA-RC-A6M6-01.png
exon_skip_459372_LIHC_TCGA-RC-A6M6-01.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
KATOIII_STOMACH	41654832	41654907	41654884	41654884	Missense_Mutation	T	C	p.I251V
CW2_LARGE_INTESTINE	41658401	41658655	41658453	41658453	Missense_Mutation	G	A	p.A139V
CPCN_LUNG	41658401	41658655	41658466	41658466	Missense_Mutation	C	T	p.A135T
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41658401	41658655	41658466	41658466	Missense_Mutation	C	T	p.A135T

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

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_459372	6	41657468:41657549:41658400:41658655:41658738:41658780	41658400:41658655	ENST00000416140.1,ENST00000230323.4,ENST00000358871.2,ENST00000403298.4,ENST00000419396.1,ENST00000419574.1,ENST00000394283.1,ENST00000343317.6,ENST00000373033.1	BRCA	rs2273068	chr6:41658566	A/G	2.99e-04
exon_skip_459372	6	41657468:41657549:41658400:41658655:41658738:41658780	41658400:41658655	ENST00000416140.1,ENST00000230323.4,ENST00000358871.2,ENST00000403298.4,ENST00000419396.1,ENST00000419574.1,ENST00000394283.1,ENST00000343317.6,ENST00000373033.1	BRCA	rs2273068	chr6:41658566	A/G	1.25e-03
exon_skip_459372	6	41657468:41657549:41658400:41658655:41658738:41658780	41658400:41658655	ENST00000416140.1,ENST00000230323.4,ENST00000358871.2,ENST00000403298.4,ENST00000419396.1,ENST00000419574.1,ENST00000394283.1,ENST00000343317.6,ENST00000373033.1	LGG	rs2273068	chr6:41658566	A/G	2.40e-06
exon_skip_459372	6	41657468:41657549:41658400:41658655:41658738:41658780	41658400:41658655	ENST00000416140.1,ENST00000230323.4,ENST00000358871.2,ENST00000403298.4,ENST00000419396.1,ENST00000419574.1,ENST00000394283.1,ENST00000343317.6,ENST00000373033.1	OV	rs2273068	chr6:41658566	A/G	9.20e-04
exon_skip_459372	6	41657468:41657549:41658400:41658655:41658738:41658780	41658400:41658655	ENST00000416140.1,ENST00000230323.4,ENST00000358871.2,ENST00000403298.4,ENST00000419396.1,ENST00000419574.1,ENST00000394283.1,ENST00000343317.6,ENST00000373033.1	OV	rs2273068	chr6:41658566	A/G	1.77e-03
exon_skip_459372	6	41657468:41657549:41658400:41658655:41658738:41658780	41658400:41658655	ENST00000416140.1,ENST00000230323.4,ENST00000358871.2,ENST00000403298.4,ENST00000419396.1,ENST00000419574.1,ENST00000394283.1,ENST00000343317.6,ENST00000373033.1	THCA	rs2273068	chr6:41658566	A/G	3.53e-03

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

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

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RelatedDrugs for TFEB

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 TFEB

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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