ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SNAP23

Gene summary

Gene information	Gene symbol	SNAP23
	Gene ID	8773
	Gene name	synaptosome associated protein 23
	Synonyms	HsT17016\|SNAP-23\|SNAP23A\|SNAP23B
	Cytomap	15q15.1-q15.2
	Type of gene	protein-coding
	Description	synaptosomal-associated protein 23synaptosomal-associated protein, 23kDsynaptosomal-associated protein, 23kDasynaptosome associated protein 23kDavesicle-membrane fusion protein SNAP-23
	Modification date	20180527
	UniProtAcc	O00161
	Context	PubMed: SNAP23 [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 SNAP23 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 SNAP23

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 SNAP23

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_121374	15	42787875:42787911:42804030:42804101:42805152:42805194	42804030:42804101	ENSG00000092531.5	ENST00000567094.1,ENST00000566035.1,ENST00000249647.3,ENST00000568331.1,ENST00000564153.1,ENST00000349777.1
exon_skip_121375	15	42804044:42804101:42805152:42805194:42805596:42805645	42805152:42805194	ENSG00000092531.5	ENST00000567094.1,ENST00000249647.3,ENST00000568451.1,ENST00000568331.1,ENST00000564153.1,ENST00000397138.1,ENST00000568859.1,ENST00000561526.1,ENST00000349777.1
exon_skip_121377	15	42805152:42805194:42805371:42805645:42807434:42807552	42805371:42805645	ENSG00000092531.5	ENST00000566035.1
exon_skip_121379	15	42805152:42805194:42805596:42805645:42807434:42807552	42805596:42805645	ENSG00000092531.5	ENST00000567094.1,ENST00000249647.3,ENST00000568451.1,ENST00000568331.1,ENST00000564153.1,ENST00000397138.1,ENST00000568859.1,ENST00000566327.1,ENST00000561526.1,ENST00000349777.1
exon_skip_121381	15	42805607:42805645:42807434:42807552:42823610:42823642	42807434:42807552	ENSG00000092531.5	ENST00000564153.1
exon_skip_121383	15	42805607:42805645:42807434:42807552:42837333:42837543	42807434:42807552	ENSG00000092531.5	ENST00000563873.1
exon_skip_121386	15	42807434:42807552:42813811:42813906:42820459:42820521	42813811:42813906	ENSG00000092531.5	ENST00000568451.1,ENST00000568331.1
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENSG00000092531.5	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1
exon_skip_121390	15	42807434:42807552:42821872:42822017:42823610:42823642	42821872:42822017	ENSG00000092531.5	ENST00000397138.1,ENST00000349777.1
exon_skip_121394	15	42820459:42820618:42821872:42822017:42823610:42823642	42821872:42822017	ENSG00000092531.5	ENST00000249647.3,ENST00000563333.1,ENST00000568514.1,ENST00000563765.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SNAP23

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_121374	15	42787875:42787911:42804030:42804101:42805152:42805194	42804030:42804101	ENSG00000092531.5	ENST00000249647.3,ENST00000564153.1,ENST00000349777.1,ENST00000567094.1,ENST00000568331.1,ENST00000566035.1
exon_skip_121375	15	42804044:42804101:42805152:42805194:42805596:42805645	42805152:42805194	ENSG00000092531.5	ENST00000561526.1,ENST00000568451.1,ENST00000249647.3,ENST00000564153.1,ENST00000349777.1,ENST00000567094.1,ENST00000568331.1,ENST00000568859.1,ENST00000397138.1
exon_skip_121377	15	42805152:42805194:42805371:42805645:42807434:42807552	42805371:42805645	ENSG00000092531.5	ENST00000566035.1
exon_skip_121378	15	42805152:42805194:42805533:42805645:42807434:42807552	42805533:42805645	ENSG00000092531.5	ENST00000563765.1
exon_skip_121379	15	42805152:42805194:42805596:42805645:42807434:42807552	42805596:42805645	ENSG00000092531.5	ENST00000561526.1,ENST00000568451.1,ENST00000249647.3,ENST00000564153.1,ENST00000349777.1,ENST00000567094.1,ENST00000568331.1,ENST00000566327.1,ENST00000568859.1,ENST00000397138.1
exon_skip_121381	15	42805607:42805645:42807434:42807552:42823610:42823642	42807434:42807552	ENSG00000092531.5	ENST00000564153.1
exon_skip_121383	15	42805607:42805645:42807434:42807552:42837333:42837543	42807434:42807552	ENSG00000092531.5	ENST00000563873.1
exon_skip_121386	15	42807434:42807552:42813811:42813906:42820459:42820521	42813811:42813906	ENSG00000092531.5	ENST00000568451.1,ENST00000568331.1
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENSG00000092531.5	ENST00000563765.1,ENST00000249647.3,ENST00000566327.1,ENST00000566035.1,ENST00000568514.1,ENST00000568841.1,ENST00000563830.1
exon_skip_121390	15	42807434:42807552:42821872:42822017:42823610:42823642	42821872:42822017	ENSG00000092531.5	ENST00000349777.1,ENST00000397138.1
exon_skip_121394	15	42820459:42820618:42821872:42822017:42823610:42823642	42821872:42822017	ENSG00000092531.5	ENST00000563765.1,ENST00000249647.3,ENST00000568514.1,ENST00000563333.1

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 SNAP23

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
ENST00000249647	42804030	42804101	5CDS-5UTR
ENST00000249647	42805596	42805645	Frame-shift
ENST00000249647	42821872	42822017	Frame-shift
ENST00000249647	42805152	42805194	In-frame
ENST00000249647	42820459	42820618	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
ENST00000249647	42804030	42804101	5CDS-5UTR
ENST00000249647	42805596	42805645	Frame-shift
ENST00000249647	42821872	42822017	Frame-shift
ENST00000249647	42805152	42805194	In-frame
ENST00000249647	42820459	42820618	In-frame

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Infer the effects of exon skipping event on protein functional features for SNAP23

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
ENST00000249647	2704	211	42805152	42805194	526	567	19	33
ENST00000249647	2704	211	42820459	42820618	735	893	89	141

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
ENST00000249647	2704	211	42805152	42805194	526	567	19	33
ENST00000249647	2704	211	42820459	42820618	735	893	89	141

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
O00161	19	33	1	211	Chain	ID=PRO_0000213598;Note=Synaptosomal-associated protein 23
O00161	19	33	23	76	Coiled coil	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12556468;Dbxref=PMID:12556468
O00161	19	33	14	76	Domain	Note=t-SNARE coiled-coil homology 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00202
O00161	19	33	24	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NHL
O00161	19	33	20	20	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
O00161	19	33	23	23	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O09044
O00161	89	141	89	89	Alternative sequence	ID=VSP_006187;Note=In isoform SNAP-23b. R->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9070898;Dbxref=PMID:9070898
O00161	89	141	90	142	Alternative sequence	ID=VSP_006188;Note=In isoform SNAP-23b. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9070898;Dbxref=PMID:9070898
O00161	89	141	1	211	Chain	ID=PRO_0000213598;Note=Synaptosomal-associated protein 23
O00161	89	141	112	112	Lipidation	Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21044946;Dbxref=PMID:21044946
O00161	89	141	110	110	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:1
O00161	89	141	135	135	Sequence conflict	Note=A->V;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
O00161	19	33	1	211	Chain	ID=PRO_0000213598;Note=Synaptosomal-associated protein 23
O00161	19	33	23	76	Coiled coil	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12556468;Dbxref=PMID:12556468
O00161	19	33	14	76	Domain	Note=t-SNARE coiled-coil homology 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00202
O00161	19	33	24	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NHL
O00161	19	33	20	20	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
O00161	19	33	23	23	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O09044
O00161	89	141	89	89	Alternative sequence	ID=VSP_006187;Note=In isoform SNAP-23b. R->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9070898;Dbxref=PMID:9070898
O00161	89	141	90	142	Alternative sequence	ID=VSP_006188;Note=In isoform SNAP-23b. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9070898;Dbxref=PMID:9070898
O00161	89	141	1	211	Chain	ID=PRO_0000213598;Note=Synaptosomal-associated protein 23
O00161	89	141	112	112	Lipidation	Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21044946;Dbxref=PMID:21044946
O00161	89	141	110	110	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:1
O00161	89	141	135	135	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for SNAP23

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A1EG-01	exon_skip_121374	42804031	42804101	42804067	42804067	Frame_Shift_Del	A	-	p.E8fs
LUAD	TCGA-05-4396-01	exon_skip_121388	42820460	42820618	42820530	42820530	Frame_Shift_Del	A	-	p.N113fs
BRCA	TCGA-A8-A09V-01	exon_skip_121388	42820460	42820618	42820532	42820533	Frame_Shift_Del	TG	-	p.V114fs
COAD	TCGA-D5-6540-01	exon_skip_121388	42820460	42820618	42820500	42820501	Frame_Shift_Ins	-	G	p.W103fs
THYM	TCGA-XU-A933-01	exon_skip_121388	42820460	42820618	42820503	42820503	Nonsense_Mutation	G	T	p.G104X
CESC	TCGA-EA-A3QE-01	exon_skip_121390 exon_skip_121394	42821873	42822017	42821973	42821973	Nonsense_Mutation	G	T	p.E176*
PAAD	TCGA-IB-7651-01	exon_skip_121390 exon_skip_121394	42821873	42822017	42822003	42822003	Nonsense_Mutation	C	T	p.R186*
PAAD	TCGA-IB-7651-01	exon_skip_121390 exon_skip_121394	42821873	42822017	42822003	42822003	Nonsense_Mutation	C	T	p.R186X

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

Depth of coverage in three exons

Mutation description

- 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
LNCAPCLONEFGC_PROSTATE	42807435	42807552	42807447	42807447	Missense_Mutation	G	A	p.R54H
HCC2998_LARGE_INTESTINE	42820460	42820618	42820466	42820466	Missense_Mutation	G	C	p.K91N
HCC2218_BREAST	42820460	42820618	42820493	42820493	Missense_Mutation	G	C	p.K100N
SNU1040_LARGE_INTESTINE	42821873	42822017	42821922	42821922	Missense_Mutation	G	A	p.V159M
HT1376_URINARY_TRACT	42821873	42822017	42822003	42822003	Nonsense_Mutation	C	T	p.R186*
BICR18_UPPER_AERODIGESTIVE_TRACT	42821873	42822017	42821873	42821873	Splice_Site	C	T	p.R142R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SNAP23

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_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	GBM	rs1060291	chr15:42820589	G/A	3.92e-10
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	CESC	rs1060291	chr15:42820589	G/A	2.34e-04
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	COAD	rs1060291	chr15:42820589	G/A	5.47e-12
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	BLCA	rs1060291	chr15:42820589	G/A	1.25e-16
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	ESCA	rs1060291	chr15:42820589	G/A	2.74e-15
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	HNSC	rs1060291	chr15:42820589	G/A	7.03e-35
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	LAML	rs1060291	chr15:42820589	G/A	6.78e-07
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	KIRP	rs1060291	chr15:42820589	G/A	3.10e-08
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	KIRP	rs1060291	chr15:42820589	G/A	2.52e-04
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	LGG	rs1060291	chr15:42820589	G/A	1.63e-10
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	LGG	rs1060291	chr15:42820589	G/A	1.65e-04
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	LGG	rs1060291	chr15:42820589	G/A	1.65e-04
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	KIRC	rs1060291	chr15:42820589	G/A	8.22e-27
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	LUAD	rs1060291	chr15:42820589	G/A	5.15e-38
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	LUSC	rs1060291	chr15:42820589	G/A	1.30e-30
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	LUSC	rs1060291	chr15:42820589	G/A	3.39e-04
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	LUSC	rs1060291	chr15:42820589	G/A	3.39e-04
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	READ	rs1060291	chr15:42820589	G/A	2.19e-10
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	PAAD	rs1060291	chr15:42820589	G/A	3.76e-08
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	PRAD	rs1060291	chr15:42820589	G/A	2.73e-09
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	SARC	rs1060291	chr15:42820589	G/A	1.09e-09
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	THYM	rs1060291	chr15:42820589	G/A	4.87e-04
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	TGCT	rs1060291	chr15:42820589	G/A	4.43e-12
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	SKCM	rs1060291	chr15:42820589	G/A	3.49e-07
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	STAD	rs1060291	chr15:42820589	G/A	1.86e-22
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	THCA	rs1060291	chr15:42820589	G/A	6.13e-09
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	THCA	rs1060291	chr15:42820589	G/A	3.22e-04
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	THCA	rs1060291	chr15:42820589	G/A	3.22e-04
exon_skip_121388	15	42807434:42807552:42820459:42820618:42821872:42822002	42820459:42820618	ENST00000566035.1,ENST00000563830.1,ENST00000249647.3,ENST00000568841.1,ENST00000568514.1,ENST00000563765.1,ENST00000566327.1	UCEC	rs1060291	chr15:42820589	G/A	6.43e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SNAP23

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SNAP23

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RelatedDrugs for SNAP23

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 SNAP23

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
SNAP23	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
SNAP23	C0151744	Myocardial Ischemia	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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