ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for WAC

Gene summary

Gene information	Gene symbol	WAC
	Gene ID	51322
	Gene name	WW domain containing adaptor with coiled-coil
	Synonyms	BM-016\|DESSH\|PRO1741\|Wwp4
	Cytomap	10p12.1\|10p12.1-p11.2
	Type of gene	protein-coding
	Description	WW domain-containing adapter protein with coiled-coil
	Modification date	20180519
	UniProtAcc	Q9BTA9
	Context	PubMed: WAC [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 WAC 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 WAC

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 WAC

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_40265	10	28821712:28821936:28822926:28822963:28824490:28824655	28822926:28822963	ENSG00000095787.17	ENST00000375646.1,ENST00000528491.1,ENST00000532233.1
exon_skip_40266	10	28821712:28821936:28822926:28823111:28824490:28824655	28822926:28823111	ENSG00000095787.17	ENST00000526722.1
exon_skip_40267	10	28822434:28822511:28822926:28822963:28824490:28824655	28822926:28822963	ENSG00000095787.17	ENST00000420266.1
exon_skip_40269	10	28822525:28822549:28822926:28822963:28824490:28824655	28822926:28822963	ENSG00000095787.17	ENST00000354911.4,ENST00000530865.1,ENST00000428935.1,ENST00000347934.4
exon_skip_40271	10	28822926:28822963:28823162:28823275:28824490:28824655	28823162:28823275	ENSG00000095787.17	ENST00000424454.1
exon_skip_40272	10	28822926:28822963:28824490:28824686:28872327:28872365	28824490:28824686	ENSG00000095787.17	ENST00000442148.1,ENST00000375664.4,ENST00000354911.4,ENST00000375646.1,ENST00000428935.1,ENST00000347934.4,ENST00000420266.1,ENST00000448193.1
exon_skip_40275	10	28824614:28824686:28872327:28872434:28878664:28878780	28872327:28872434	ENSG00000095787.17	ENST00000442148.1,ENST00000424454.1,ENST00000375664.4,ENST00000354911.4,ENST00000375646.1,ENST00000428935.1,ENST00000347934.4,ENST00000420266.1,ENST00000345541.6,ENST00000414108.1,ENST00000439676.1
exon_skip_40280	10	28879650:28879761:28884661:28884970:28897114:28897360	28884661:28884970	ENSG00000095787.17	ENST00000424454.1,ENST00000375664.4,ENST00000354911.4,ENST00000428935.1,ENST00000345541.6,ENST00000439676.1
exon_skip_40285	10	28879650:28879761:28897114:28897360:28899627:28899639	28897114:28897360	ENSG00000095787.17	ENST00000347934.4
exon_skip_40289	10	28884855:28884970:28897114:28897360:28899627:28899639	28897114:28897360	ENSG00000095787.17	ENST00000424454.1,ENST00000375664.4,ENST00000354911.4,ENST00000428935.1,ENST00000439676.1
exon_skip_40293	10	28899639:28899750:28900183:28900410:28900702:28900851	28900183:28900410	ENSG00000095787.17	ENST00000439676.1
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENSG00000095787.17	ENST00000345541.6
exon_skip_40305	10	28903495:28903614:28905101:28905291:28906585:28906713	28905101:28905291	ENSG00000095787.17	ENST00000375664.4,ENST00000354911.4,ENST00000375646.1,ENST00000347934.4,ENST00000439676.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for WAC

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_40265	10	28821712:28821936:28822926:28822963:28824490:28824655	28822926:28822963	ENSG00000095787.17	ENST00000528491.1,ENST00000532233.1,ENST00000375646.1
exon_skip_40266	10	28821712:28821936:28822926:28823111:28824490:28824655	28822926:28823111	ENSG00000095787.17	ENST00000526722.1
exon_skip_40267	10	28822434:28822511:28822926:28822963:28824490:28824655	28822926:28822963	ENSG00000095787.17	ENST00000420266.1
exon_skip_40269	10	28822525:28822549:28822926:28822963:28824490:28824655	28822926:28822963	ENSG00000095787.17	ENST00000347934.4,ENST00000354911.4,ENST00000428935.1,ENST00000530865.1
exon_skip_40271	10	28822926:28822963:28823162:28823275:28824490:28824655	28823162:28823275	ENSG00000095787.17	ENST00000424454.1
exon_skip_40272	10	28822926:28822963:28824490:28824686:28872327:28872365	28824490:28824686	ENSG00000095787.17	ENST00000375664.4,ENST00000375646.1,ENST00000347934.4,ENST00000354911.4,ENST00000428935.1,ENST00000420266.1,ENST00000442148.1,ENST00000448193.1
exon_skip_40275	10	28824614:28824686:28872327:28872434:28878664:28878780	28872327:28872434	ENSG00000095787.17	ENST00000375664.4,ENST00000375646.1,ENST00000347934.4,ENST00000354911.4,ENST00000428935.1,ENST00000420266.1,ENST00000424454.1,ENST00000442148.1,ENST00000414108.1,ENST00000439676.1,ENST00000345541.6
exon_skip_40280	10	28879650:28879761:28884661:28884970:28897114:28897360	28884661:28884970	ENSG00000095787.17	ENST00000375664.4,ENST00000354911.4,ENST00000428935.1,ENST00000424454.1,ENST00000439676.1,ENST00000345541.6
exon_skip_40285	10	28879650:28879761:28897114:28897360:28899627:28899639	28897114:28897360	ENSG00000095787.17	ENST00000347934.4
exon_skip_40289	10	28884855:28884970:28897114:28897360:28899627:28899639	28897114:28897360	ENSG00000095787.17	ENST00000375664.4,ENST00000354911.4,ENST00000428935.1,ENST00000424454.1,ENST00000439676.1
exon_skip_40293	10	28899639:28899750:28900183:28900410:28900702:28900851	28900183:28900410	ENSG00000095787.17	ENST00000439676.1
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENSG00000095787.17	ENST00000345541.6
exon_skip_40305	10	28903495:28903614:28905101:28905291:28906585:28906713	28905101:28905291	ENSG00000095787.17	ENST00000375664.4,ENST00000375646.1,ENST00000347934.4,ENST00000354911.4,ENST00000439676.1

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 WAC

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
ENST00000354911	28822926	28822963	Frame-shift
ENST00000354911	28824490	28824686	Frame-shift
ENST00000354911	28872327	28872434	Frame-shift
ENST00000354911	28905101	28905291	Frame-shift
ENST00000354911	28884661	28884970	In-frame
ENST00000354911	28897114	28897360	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
ENST00000354911	28822926	28822963	Frame-shift
ENST00000354911	28824490	28824686	Frame-shift
ENST00000354911	28872327	28872434	Frame-shift
ENST00000354911	28905101	28905291	Frame-shift
ENST00000354911	28884661	28884970	In-frame
ENST00000354911	28897114	28897360	In-frame

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

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
ENST00000354911	3059	647	28884661	28884970	772	1080	203	306
ENST00000354911	3059	647	28897114	28897360	1081	1326	306	388

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
ENST00000354911	3059	647	28884661	28884970	772	1080	203	306
ENST00000354911	3059	647	28897114	28897360	1081	1326	306	388

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 WAC

- 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.

WAC_HNSC_exon_skip_40275_psi_boxplot.png
boxplot

WAC_HNSC_exon_skip_40297_psi_boxplot.png
boxplot

WAC_HNSC_exon_skip_40305_psi_boxplot.png
boxplot

WAC_LIHC_exon_skip_40275_psi_boxplot.png
boxplot

WAC_LUAD_exon_skip_40297_psi_boxplot.png
boxplot

WAC_LUAD_exon_skip_40305_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-G3-A3CJ-01	exon_skip_40265 exon_skip_40267 exon_skip_40269	28822927	28822963	28822941	28822941	Frame_Shift_Del	G	-	p.R19fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_40266	28822927	28823111	28822941	28822941	Frame_Shift_Del	G	-	p.R19fs
BRCA	TCGA-AN-A0FD-01	exon_skip_40272	28824491	28824686	28824639	28824640	Frame_Shift_Del	GT	-	p.S76fs
BLCA	TCGA-ZF-A9R9-01	exon_skip_40272	28824491	28824686	28824671	28824674	Frame_Shift_Del	AGAG	-	p.RE42fs
LIHC	TCGA-DD-A39Y-01	exon_skip_40275	28872328	28872434	28872349	28872349	Frame_Shift_Del	A	-	p.E54fs
LIHC	TCGA-DD-A3A0-01	exon_skip_40280	28884662	28884970	28884955	28884955	Frame_Shift_Del	A	-	p.K257fs
UCEC	TCGA-AX-A0J1-01	exon_skip_40289 exon_skip_40285	28897115	28897360	28897212	28897212	Frame_Shift_Del	T	-	p.A340fs
BLCA	TCGA-FD-A6TF-01	exon_skip_40272	28824491	28824686	28824570	28824570	Nonsense_Mutation	C	A	p.S8*
BLCA	TCGA-GV-A3JZ-01	exon_skip_40289 exon_skip_40285	28897115	28897360	28897142	28897142	Nonsense_Mutation	C	G	p.S271*
BLCA	TCGA-GV-A3JZ-01	exon_skip_40289 exon_skip_40285	28897115	28897360	28897142	28897142	Nonsense_Mutation	C	G	p.S316*
BLCA	TCGA-BT-A3PJ-01	exon_skip_40289 exon_skip_40285	28897115	28897360	28897267	28897267	Nonsense_Mutation	C	T	p.Q313*
BLCA	TCGA-BT-A3PJ-01	exon_skip_40289 exon_skip_40285	28897115	28897360	28897267	28897267	Nonsense_Mutation	C	T	p.Q358*
UCEC	TCGA-BS-A0UF-01	exon_skip_40297	28903496	28905291	28903595	28903595	Nonsense_Mutation	C	T	p.R513*
BLCA	TCGA-E7-A3X6-01	exon_skip_40297	28903496	28905291	28903604	28903604	Nonsense_Mutation	C	T	p.Q471*
BLCA	TCGA-E7-A3X6-01	exon_skip_40297	28903496	28905291	28903604	28903604	Nonsense_Mutation	C	T	p.Q516*
HNSC	TCGA-CN-A6V7-01	exon_skip_40297	28903496	28905291	28905158	28905158	Nonsense_Mutation	C	G	p.S493*
HNSC	TCGA-CN-A6V7-01	exon_skip_40305	28905102	28905291	28905158	28905158	Nonsense_Mutation	C	G	p.S493*
LUAD	TCGA-05-4397-01	exon_skip_40297	28903496	28905291	28905206	28905206	Nonsense_Mutation	C	G	p.S509*
LUAD	TCGA-05-4397-01	exon_skip_40305	28905102	28905291	28905206	28905206	Nonsense_Mutation	C	G	p.S509*
LUAD	TCGA-38-7271-01	exon_skip_40297	28903496	28905291	28905206	28905206	Nonsense_Mutation	C	G	p.S509*
LUAD	TCGA-38-7271-01	exon_skip_40305	28905102	28905291	28905206	28905206	Nonsense_Mutation	C	G	p.S509*
HNSC	TCGA-CR-6491-01	exon_skip_40275	28872328	28872434	28872436	28872436	Splice_Site	T	G	p.A127_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CN-A6V7-01
	Cancer type: HNSC
	ESID: exon_skip_40297
	Skipped exon start: 28903496
	Skipped exon end: 28905291
	Mutation start: 28905158
	Mutation end: 28905158
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S493*
	Sample: TCGA-CN-A6V7-01
	Cancer type: HNSC
	ESID: exon_skip_40305
	Skipped exon start: 28905102
	Skipped exon end: 28905291
	Mutation start: 28905158
	Mutation end: 28905158
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S493*
exon_skip_40297_HNSC_TCGA-CN-A6V7-01.png
	Sample: TCGA-05-4397-01
	Cancer type: LUAD
	ESID: exon_skip_40297
	Skipped exon start: 28903496
	Skipped exon end: 28905291
	Mutation start: 28905206
	Mutation end: 28905206
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S509*
	Sample: TCGA-05-4397-01
	Cancer type: LUAD
	ESID: exon_skip_40305
	Skipped exon start: 28905102
	Skipped exon end: 28905291
	Mutation start: 28905206
	Mutation end: 28905206
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S509*
exon_skip_4028_LUAD_TCGA-05-4397-01.png
exon_skip_40297_LUAD_TCGA-05-4397-01.png
	Sample: TCGA-38-7271-01
	Cancer type: LUAD
	ESID: exon_skip_40297
	Skipped exon start: 28903496
	Skipped exon end: 28905291
	Mutation start: 28905206
	Mutation end: 28905206
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S509*
	Sample: TCGA-38-7271-01
	Cancer type: LUAD
	ESID: exon_skip_40305
	Skipped exon start: 28905102
	Skipped exon end: 28905291
	Mutation start: 28905206
	Mutation end: 28905206
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S509*
exon_skip_40297_LUAD_TCGA-38-7271-01.png
exon_skip_40305_LUAD_TCGA-38-7271-01.png
	Sample: TCGA-CN-A6V7-01
	Cancer type: HNSC
	ESID: exon_skip_40297
	Skipped exon start: 28903496
	Skipped exon end: 28905291
	Mutation start: 28905158
	Mutation end: 28905158
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S493*
	Sample: TCGA-CN-A6V7-01
	Cancer type: HNSC
	ESID: exon_skip_40305
	Skipped exon start: 28905102
	Skipped exon end: 28905291
	Mutation start: 28905158
	Mutation end: 28905158
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S493*
exon_skip_40297_HNSC_TCGA-CN-A6V7-01.png
	Sample: TCGA-05-4397-01
	Cancer type: LUAD
	ESID: exon_skip_40297
	Skipped exon start: 28903496
	Skipped exon end: 28905291
	Mutation start: 28905206
	Mutation end: 28905206
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S509*
	Sample: TCGA-05-4397-01
	Cancer type: LUAD
	ESID: exon_skip_40305
	Skipped exon start: 28905102
	Skipped exon end: 28905291
	Mutation start: 28905206
	Mutation end: 28905206
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S509*
exon_skip_4028_LUAD_TCGA-05-4397-01.png
exon_skip_40297_LUAD_TCGA-05-4397-01.png
	Sample: TCGA-38-7271-01
	Cancer type: LUAD
	ESID: exon_skip_40297
	Skipped exon start: 28903496
	Skipped exon end: 28905291
	Mutation start: 28905206
	Mutation end: 28905206
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S509*
	Sample: TCGA-38-7271-01
	Cancer type: LUAD
	ESID: exon_skip_40305
	Skipped exon start: 28905102
	Skipped exon end: 28905291
	Mutation start: 28905206
	Mutation end: 28905206
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S509*
exon_skip_40297_LUAD_TCGA-38-7271-01.png
exon_skip_40305_LUAD_TCGA-38-7271-01.png
	Sample: TCGA-BS-A0UF-01
	Cancer type: UCEC
	ESID: exon_skip_40297
	Skipped exon start: 28903496
	Skipped exon end: 28905291
	Mutation start: 28903595
	Mutation end: 28903595
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R513*
exon_skip_104037_UCEC_TCGA-BS-A0UF-01.png
exon_skip_105868_UCEC_TCGA-BS-A0UF-01.png
exon_skip_105985_UCEC_TCGA-BS-A0UF-01.png
exon_skip_115426_UCEC_TCGA-BS-A0UF-01.png
exon_skip_14705_UCEC_TCGA-BS-A0UF-01.png
exon_skip_147467_UCEC_TCGA-BS-A0UF-01.png
exon_skip_19372_UCEC_TCGA-BS-A0UF-01.png
exon_skip_286379_UCEC_TCGA-BS-A0UF-01.png
exon_skip_294437_UCEC_TCGA-BS-A0UF-01.png
exon_skip_321837_UCEC_TCGA-BS-A0UF-01.png
exon_skip_324767_UCEC_TCGA-BS-A0UF-01.png
exon_skip_345944_UCEC_TCGA-BS-A0UF-01.png
exon_skip_345950_UCEC_TCGA-BS-A0UF-01.png
exon_skip_382354_UCEC_TCGA-BS-A0UF-01.png
exon_skip_389258_UCEC_TCGA-BS-A0UF-01.png
exon_skip_389265_UCEC_TCGA-BS-A0UF-01.png
exon_skip_39691_UCEC_TCGA-BS-A0UF-01.png
exon_skip_40297_UCEC_TCGA-BS-A0UF-01.png
exon_skip_461887_UCEC_TCGA-BS-A0UF-01.png
exon_skip_482464_UCEC_TCGA-BS-A0UF-01.png
exon_skip_59390_UCEC_TCGA-BS-A0UF-01.png
exon_skip_82288_UCEC_TCGA-BS-A0UF-01.png
exon_skip_84605_UCEC_TCGA-BS-A0UF-01.png
exon_skip_95240_UCEC_TCGA-BS-A0UF-01.png
	Sample: TCGA-CR-6491-01
	Cancer type: HNSC
	ESID: exon_skip_40275
	Skipped exon start: 28872328
	Skipped exon end: 28872434
	Mutation start: 28872436
	Mutation end: 28872436
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: G
	AAchange: p.A127_splice
exon_skip_40275_HNSC_TCGA-CR-6491-01.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
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28884662	28884970	28884713	28884714	Frame_Shift_Del	TG	-	p.L221fs
BICR18_UPPER_AERODIGESTIVE_TRACT	28903496	28905291	28905140	28905142	In_Frame_Del	CTA	-	p.532_533SN>Y
BICR18_UPPER_AERODIGESTIVE_TRACT	28905102	28905291	28905140	28905142	In_Frame_Del	CTA	-	p.532_533SN>Y
MFE319_ENDOMETRIUM	28822927	28822963	28822959	28822959	Missense_Mutation	A	G	p.Y25C
MFE319_ENDOMETRIUM	28822927	28823111	28822959	28822959	Missense_Mutation	A	G	p.Y25C
NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28824491	28824686	28824527	28824527	Missense_Mutation	G	A	p.G39S
BICR18_UPPER_AERODIGESTIVE_TRACT	28824491	28824686	28824561	28824561	Missense_Mutation	G	C	p.G50A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28824491	28824686	28824561	28824561	Missense_Mutation	G	C	p.G50A
SKUT1_SOFT_TISSUE	28824491	28824686	28824596	28824596	Missense_Mutation	T	A	p.S62T
BICR18_UPPER_AERODIGESTIVE_TRACT	28824491	28824686	28824599	28824599	Missense_Mutation	G	A	p.D63N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28824491	28824686	28824599	28824599	Missense_Mutation	G	A	p.D63N
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28884662	28884970	28884682	28884682	Missense_Mutation	G	A	p.D211N
BICR18_UPPER_AERODIGESTIVE_TRACT	28884662	28884970	28884740	28884740	Missense_Mutation	G	A	p.R230K
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28884662	28884970	28884740	28884740	Missense_Mutation	G	A	p.R230K
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28884662	28884970	28884740	28884740	Missense_Mutation	G	A	p.R230K
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28884662	28884970	28884781	28884781	Missense_Mutation	A	C	p.T244P
AN3CA_ENDOMETRIUM	28884662	28884970	28884782	28884782	Missense_Mutation	C	A	p.T244K
MZ1PC_PANCREAS	28884662	28884970	28884873	28884873	Missense_Mutation	C	G	p.H274Q
DMS153_LUNG	28884662	28884970	28884929	28884929	Missense_Mutation	C	T	p.T293I
BICR18_UPPER_AERODIGESTIVE_TRACT	28884662	28884970	28884937	28884937	Missense_Mutation	T	G	p.S296A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28884662	28884970	28884937	28884937	Missense_Mutation	T	G	p.S296A
BICR18_UPPER_AERODIGESTIVE_TRACT	28884662	28884970	28884943	28884943	Missense_Mutation	G	C	p.V298L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28884662	28884970	28884943	28884943	Missense_Mutation	G	C	p.V298L
COLO205_LARGE_INTESTINE	28897115	28897360	28897306	28897306	Missense_Mutation	C	A	p.Q371K
LS1034_LARGE_INTESTINE	28897115	28897360	28897306	28897306	Missense_Mutation	C	A	p.Q371K
SKMES1_LUNG	28897115	28897360	28897306	28897306	Missense_Mutation	C	A	p.Q371K
CAL51_BREAST	28897115	28897360	28897352	28897352	Missense_Mutation	T	A	p.I386K
NCIH1184_LUNG	28903496	28905291	28903526	28903526	Missense_Mutation	G	C	p.V490L
OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28903496	28905291	28903548	28903548	Missense_Mutation	A	G	p.Q497R
SNU81_LARGE_INTESTINE	28903496	28905291	28903596	28903596	Missense_Mutation	G	A	p.R513Q
BICR18_UPPER_AERODIGESTIVE_TRACT	28903496	28905291	28903611	28903611	Missense_Mutation	C	T	p.S518L
CADOES1_BONE	28903496	28905291	28905160	28905160	Missense_Mutation	A	G	p.N539D
CADOES1_BONE	28905102	28905291	28905160	28905160	Missense_Mutation	A	G	p.N539D
OUMS23_LARGE_INTESTINE	28903496	28905291	28905160	28905160	Missense_Mutation	A	G	p.N539D
OUMS23_LARGE_INTESTINE	28905102	28905291	28905160	28905160	Missense_Mutation	A	G	p.N539D
FLO1_OESOPHAGUS	28903496	28905291	28905169	28905169	Missense_Mutation	G	A	p.V542I
FLO1_OESOPHAGUS	28905102	28905291	28905169	28905169	Missense_Mutation	G	A	p.V542I
G361_SKIN	28884662	28884970	28884874	28884874	Nonsense_Mutation	C	T	p.Q275*
NCIH2887_LUNG	28824491	28824686	28824491	28824491	Splice_Site	G	A	p.A27T

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

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_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	COAD	rs332174	chr10:28903771	G/A	3.00e-08
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	BLCA	rs332176	chr10:28905079	A/G	8.83e-04
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	ESCA	rs332174	chr10:28903771	G/A	2.29e-06
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	HNSC	rs332174	chr10:28903771	G/A	6.45e-10
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	HNSC	rs332176	chr10:28905079	A/G	3.31e-04
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	BRCA	rs332174	chr10:28903771	G/A	6.12e-20
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	BRCA	rs332176	chr10:28905079	A/G	3.95e-07
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	LGG	rs332174	chr10:28903771	G/A	3.63e-12
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	LGG	rs332176	chr10:28905079	A/G	1.98e-07
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	LGG	rs332176	chr10:28905079	A/G	1.94e-03
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	KIRC	rs332174	chr10:28903771	G/A	1.23e-12
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	KIRC	rs332176	chr10:28905079	A/G	8.53e-04
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	LUAD	rs332174	chr10:28903771	G/A	9.35e-10
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	LUAD	rs332176	chr10:28905079	A/G	5.10e-06
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	LUAD	rs332174	chr10:28903771	G/A	1.29e-03
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	MESO	rs332174	chr10:28903771	G/A	1.40e-04
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	LUSC	rs332174	chr10:28903771	G/A	8.36e-15
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	OV	rs332174	chr10:28903771	G/A	5.63e-07
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	OV	rs332176	chr10:28905079	A/G	1.12e-03
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	OV	rs332174	chr10:28903771	G/A	1.77e-03
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	OV	rs332174	chr10:28903771	G/A	1.81e-03
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	PCPG	rs332174	chr10:28903771	G/A	4.55e-06
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	PAAD	rs332174	chr10:28903771	G/A	2.19e-07
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	PRAD	rs332174	chr10:28903771	G/A	5.58e-10
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	PRAD	rs332176	chr10:28905079	A/G	9.77e-04
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	SARC	rs332174	chr10:28903771	G/A	1.19e-03
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	STAD	rs332174	chr10:28903771	G/A	1.08e-09
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	STAD	rs332176	chr10:28905079	A/G	5.56e-04
exon_skip_40297	10	28900702:28900851:28903495:28905291:28906585:28906713	28903495:28905291	ENST00000345541.6	THCA	rs332174	chr10:28903771	G/A	4.52e-10

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

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

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RelatedDrugs for WAC

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 WAC

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 WAC

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

Gene isoform structures and expression levels for WAC

Exon skipping events with PSIs in TCGA for WAC

Exon skipping events with PSIs in GTEx for WAC

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

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

SNVs in the skipped exons for WAC

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

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

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

RelatedDrugs for WAC

RelatedDiseases for WAC