ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for WWP1

Gene summary

Gene information	Gene symbol	WWP1
	Gene ID	11059
	Gene name	WW domain containing E3 ubiquitin protein ligase 1
	Synonyms	AIP5\|Tiul1\|hSDRP1
	Cytomap	8q21.3
	Type of gene	protein-coding
	Description	NEDD4-like E3 ubiquitin-protein ligase WWP1HECT-type E3 ubiquitin transferase WWP1Nedd-4-like ubiquitin-protein ligaseTGIF-interacting ubiquitin ligase 1WW domain-containing protein 1atrophin-1 interacting protein 5
	Modification date	20180523
	UniProtAcc	Q9H0M0
	Context	PubMed: WWP1 [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 WWP1 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 WWP1

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 WWP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_484347	8	87355002:87355159:87381167:87381260:87386258:87386342	87381167:87381260	ENSG00000123124.9	ENST00000523863.1
exon_skip_484356	8	87393733:87393858:87410570:87410708:87410800:87410867	87410570:87410708	ENSG00000123124.9	ENST00000518683.1,ENST00000265428.4,ENST00000517970.1
exon_skip_484373	8	87410803:87410867:87414247:87414432:87423766:87424103	87414247:87414432	ENSG00000123124.9	ENST00000265428.4,ENST00000517970.1
exon_skip_484380	8	87447686:87447756:87447861:87447933:87450813:87450902	87447861:87447933	ENSG00000123124.9	ENST00000518683.1,ENST00000341922.2,ENST00000349423.2,ENST00000520453.1,ENST00000265428.4,ENST00000517970.1
exon_skip_484382	8	87447861:87447933:87450813:87450902:87454847:87455007	87450813:87450902	ENSG00000123124.9	ENST00000518683.1,ENST00000341922.2,ENST00000521997.1,ENST00000349423.2,ENST00000265428.4,ENST00000517970.1
exon_skip_484383	8	87450813:87450902:87452854:87452962:87454847:87455007	87452854:87452962	ENSG00000123124.9	ENST00000520453.1
exon_skip_484388	8	87460601:87460742:87464787:87464908:87470149:87470250	87464787:87464908	ENSG00000123124.9	ENST00000341922.2,ENST00000349423.2,ENST00000265428.4,ENST00000517970.1
exon_skip_484395	8	87473455:87473549:87474002:87474075:87479022:87479705	87474002:87474075	ENSG00000123124.9	ENST00000341922.2,ENST00000349423.2,ENST00000265428.4,ENST00000517970.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for WWP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_484347	8	87355002:87355159:87381167:87381260:87386258:87386342	87381167:87381260	ENSG00000123124.9	ENST00000523863.1
exon_skip_484356	8	87393733:87393858:87410570:87410708:87410800:87410867	87410570:87410708	ENSG00000123124.9	ENST00000517970.1,ENST00000265428.4,ENST00000518683.1
exon_skip_484373	8	87410803:87410867:87414247:87414432:87423766:87424103	87414247:87414432	ENSG00000123124.9	ENST00000517970.1,ENST00000265428.4
exon_skip_484380	8	87447686:87447756:87447861:87447933:87450813:87450902	87447861:87447933	ENSG00000123124.9	ENST00000517970.1,ENST00000265428.4,ENST00000341922.2,ENST00000349423.2,ENST00000518683.1,ENST00000520453.1
exon_skip_484382	8	87447861:87447933:87450813:87450902:87454847:87455007	87450813:87450902	ENSG00000123124.9	ENST00000517970.1,ENST00000265428.4,ENST00000341922.2,ENST00000349423.2,ENST00000518683.1,ENST00000521997.1
exon_skip_484383	8	87450813:87450902:87452854:87452962:87454847:87455007	87452854:87452962	ENSG00000123124.9	ENST00000520453.1
exon_skip_484388	8	87460601:87460742:87464787:87464908:87470149:87470250	87464787:87464908	ENSG00000123124.9	ENST00000517970.1,ENST00000265428.4,ENST00000341922.2,ENST00000349423.2
exon_skip_484395	8	87473455:87473549:87474002:87474075:87479022:87479705	87474002:87474075	ENSG00000123124.9	ENST00000517970.1,ENST00000265428.4,ENST00000341922.2,ENST00000349423.2

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 WWP1

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
ENST00000265428	87414247	87414432	Frame-shift
ENST00000517970	87414247	87414432	Frame-shift
ENST00000265428	87450813	87450902	Frame-shift
ENST00000517970	87450813	87450902	Frame-shift
ENST00000265428	87464787	87464908	Frame-shift
ENST00000517970	87464787	87464908	Frame-shift
ENST00000265428	87474002	87474075	Frame-shift
ENST00000517970	87474002	87474075	Frame-shift
ENST00000265428	87410570	87410708	In-frame
ENST00000517970	87410570	87410708	In-frame
ENST00000265428	87447861	87447933	In-frame
ENST00000517970	87447861	87447933	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
ENST00000265428	87414247	87414432	Frame-shift
ENST00000517970	87414247	87414432	Frame-shift
ENST00000265428	87450813	87450902	Frame-shift
ENST00000517970	87450813	87450902	Frame-shift
ENST00000265428	87464787	87464908	Frame-shift
ENST00000517970	87464787	87464908	Frame-shift
ENST00000265428	87474002	87474075	Frame-shift
ENST00000517970	87474002	87474075	Frame-shift
ENST00000265428	87410570	87410708	In-frame
ENST00000517970	87410570	87410708	In-frame
ENST00000265428	87447861	87447933	In-frame
ENST00000517970	87447861	87447933	In-frame

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Infer the effects of exon skipping event on protein functional features for WWP1

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
ENST00000265428	3379	922	87410570	87410708	345	482	111	157
ENST00000517970	4703	922	87410570	87410708	642	779	111	157
ENST00000265428	3379	922	87447861	87447933	1688	1759	559	583
ENST00000517970	4703	922	87447861	87447933	1985	2056	559	583

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
ENST00000265428	3379	922	87410570	87410708	345	482	111	157
ENST00000517970	4703	922	87410570	87410708	642	779	111	157
ENST00000265428	3379	922	87447861	87447933	1688	1759	559	583
ENST00000517970	4703	922	87447861	87447933	1985	2056	559	583

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
Q9H0M0	111	157	23	240	Alternative sequence	ID=VSP_007600;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	23	240	Alternative sequence	ID=VSP_007600;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	112	242	Alternative sequence	ID=VSP_007602;Note=In isoform 3. LERVKEQLKLSLENKNGIAQTGELTVVLDGLVIEQENITNCSSSPTIEIQENGDALHENGEPSARTTARLAVEGTNGIDNHVPTSTLVQNSCCSYVVNGDNTPSSPSQVAARPKNTPAPKPLASEPADDTV->F;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	112	242	Alternative sequence	ID=VSP_007602;Note=In isoform 3. LERVKEQLKLSLENKNGIAQTGELTVVLDGLVIEQENITNCSSSPTIEIQENGDALHENGEPSARTTARLAVEGTNGIDNHVPTSTLVQNSCCSYVVNGDNTPSSPSQVAARPKNTPAPKPLASEPADDTV->F;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	112	120	Alternative sequence	ID=VSP_007601;Note=In isoform 2. LERVKEQLK->CWLLKARME;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	112	120	Alternative sequence	ID=VSP_007601;Note=In isoform 2. LERVKEQLK->CWLLKARME;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	121	922	Alternative sequence	ID=VSP_007603;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	121	922	Alternative sequence	ID=VSP_007603;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	1	922	Chain	ID=PRO_0000120336;Note=NEDD4-like E3 ubiquitin-protein ligase WWP1
Q9H0M0	111	157	1	922	Chain	ID=PRO_0000120336;Note=NEDD4-like E3 ubiquitin-protein ligase WWP1
Q9H0M0	559	583	121	922	Alternative sequence	ID=VSP_007603;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	559	583	121	922	Alternative sequence	ID=VSP_007603;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	559	583	564	571	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	564	571	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	1	922	Chain	ID=PRO_0000120336;Note=NEDD4-like E3 ubiquitin-protein ligase WWP1
Q9H0M0	559	583	1	922	Chain	ID=PRO_0000120336;Note=NEDD4-like E3 ubiquitin-protein ligase WWP1
Q9H0M0	559	583	547	559	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	547	559	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	576	586	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	576	586	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	573	575	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ND7
Q9H0M0	559	583	573	575	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ND7

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
Q9H0M0	111	157	23	240	Alternative sequence	ID=VSP_007600;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	23	240	Alternative sequence	ID=VSP_007600;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	112	242	Alternative sequence	ID=VSP_007602;Note=In isoform 3. LERVKEQLKLSLENKNGIAQTGELTVVLDGLVIEQENITNCSSSPTIEIQENGDALHENGEPSARTTARLAVEGTNGIDNHVPTSTLVQNSCCSYVVNGDNTPSSPSQVAARPKNTPAPKPLASEPADDTV->F;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	112	242	Alternative sequence	ID=VSP_007602;Note=In isoform 3. LERVKEQLKLSLENKNGIAQTGELTVVLDGLVIEQENITNCSSSPTIEIQENGDALHENGEPSARTTARLAVEGTNGIDNHVPTSTLVQNSCCSYVVNGDNTPSSPSQVAARPKNTPAPKPLASEPADDTV->F;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	112	120	Alternative sequence	ID=VSP_007601;Note=In isoform 2. LERVKEQLK->CWLLKARME;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	112	120	Alternative sequence	ID=VSP_007601;Note=In isoform 2. LERVKEQLK->CWLLKARME;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	121	922	Alternative sequence	ID=VSP_007603;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	121	922	Alternative sequence	ID=VSP_007603;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	111	157	1	922	Chain	ID=PRO_0000120336;Note=NEDD4-like E3 ubiquitin-protein ligase WWP1
Q9H0M0	111	157	1	922	Chain	ID=PRO_0000120336;Note=NEDD4-like E3 ubiquitin-protein ligase WWP1
Q9H0M0	559	583	121	922	Alternative sequence	ID=VSP_007603;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	559	583	121	922	Alternative sequence	ID=VSP_007603;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11779188;Dbxref=PMID:11779188
Q9H0M0	559	583	564	571	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	564	571	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	1	922	Chain	ID=PRO_0000120336;Note=NEDD4-like E3 ubiquitin-protein ligase WWP1
Q9H0M0	559	583	1	922	Chain	ID=PRO_0000120336;Note=NEDD4-like E3 ubiquitin-protein ligase WWP1
Q9H0M0	559	583	547	559	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	547	559	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	576	586	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	576	586	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HPS
Q9H0M0	559	583	573	575	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ND7
Q9H0M0	559	583	573	575	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ND7

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SNVs in the skipped exons for WWP1

- 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-G3-A3CJ-01	exon_skip_484356	87410571	87410708	87410676	87410676	Frame_Shift_Del	A	-	p.E147fs
KICH	TCGA-KO-8407-01	exon_skip_484373	87414248	87414432	87414376	87414376	Frame_Shift_Del	G	-	p.R223fs
LIHC	TCGA-DD-A3A0-01	exon_skip_484373	87414248	87414432	87414381	87414381	Frame_Shift_Del	A	-	p.K225fs
LIHC	TCGA-DD-A1EG-01	exon_skip_484388	87464788	87464908	87464895	87464895	Frame_Shift_Del	A	-	p.E794fs
ESCA	TCGA-L5-A8NG-01	exon_skip_484356	87410571	87410708	87410585	87410585	Nonsense_Mutation	G	T	p.E117X
UCEC	TCGA-AP-A056-01	exon_skip_484356	87410571	87410708	87410585	87410585	Nonsense_Mutation	G	T	p.E117*
STAD	TCGA-BR-4184-01	exon_skip_484380	87447862	87447933	87447904	87447904	Nonsense_Mutation	C	T	p.Q574*
BRCA	TCGA-C8-A274-01	exon_skip_484388	87464788	87464908	87464813	87464813	Nonsense_Mutation	C	T	p.R767*

- 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
SW13_ADRENAL_CORTEX	87414248	87414432	87414256	87414256	Frame_Shift_Del	T	-	p.V183fs
HCE4_OESOPHAGUS	87464788	87464908	87464799	87464799	Frame_Shift_Del	A	-	p.E762fs
EN_ENDOMETRIUM	87464788	87464908	87464833	87464834	Frame_Shift_Ins	-	A	p.K774fs
NCIH1105_LUNG	87410571	87410708	87410685	87410685	Missense_Mutation	C	A	p.T150K
TGBC11TKB_STOMACH	87410571	87410708	87410696	87410696	Missense_Mutation	T	C	p.S154P
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87410571	87410708	87410702	87410702	Missense_Mutation	C	T	p.P156S
SISO_CERVIX	87414248	87414432	87414408	87414408	Missense_Mutation	G	A	p.A234T
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87414248	87414432	87414408	87414408	Missense_Mutation	G	A	p.A234T
SNU1040_LARGE_INTESTINE	87450814	87450902	87450857	87450857	Missense_Mutation	T	C	p.V598A
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87464788	87464908	87464814	87464814	Missense_Mutation	G	A	p.R767Q
D336MG_CENTRAL_NERVOUS_SYSTEM	87464788	87464908	87464825	87464825	Missense_Mutation	G	A	p.E771K
HCT15_LARGE_INTESTINE	87464788	87464908	87464879	87464879	Missense_Mutation	C	A	p.L789I
NCIH64_LUNG	87464788	87464908	87464901	87464901	Missense_Mutation	A	T	p.E796V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WWP1

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 WWP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WWP1

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RelatedDrugs for WWP1

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 WWP1

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 WWP1

Exon skipping events across known transcript of Ensembl for WWP1 from UCSC genome browser

Gene isoform structures and expression levels for WWP1

Exon skipping events with PSIs in TCGA for WWP1

Exon skipping events with PSIs in GTEx for WWP1

Open reading frame (ORF) annotation in the exon skipping event for WWP1

Infer the effects of exon skipping event on protein functional features for WWP1

SNVs in the skipped exons for WWP1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WWP1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WWP1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WWP1

RelatedDrugs for WWP1

RelatedDiseases for WWP1