ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for WBP2

Gene summary

Gene information	Gene symbol	WBP2
	Gene ID	23558
	Gene name	WW domain binding protein 2
	Synonyms	DFNB107\|GRAMD6\|WBP-2
	Cytomap	17q25.1
	Type of gene	protein-coding
	Description	WW domain-binding protein 2
	Modification date	20180523
	UniProtAcc	Q969T9
	Context	PubMed: WBP2 [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
WBP2	GO:0032570	response to progesterone	16772533
WBP2	GO:0033148	positive regulation of intracellular estrogen receptor signaling pathway	16772533
WBP2	GO:0043627	response to estrogen	16772533
WBP2	GO:0050847	progesterone receptor signaling pathway	16772533

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Exon skipping events across known transcript of Ensembl for WBP2 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 WBP2

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 WBP2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_293483	17	73842853:73842868:73842988:73843065:73843567:73843678	73842988:73843065	ENSG00000132471.7	ENST00000586257.1,ENST00000585462.1,ENST00000590221.1,ENST00000591399.1,ENST00000433525.2,ENST00000254806.3,ENST00000589236.1,ENST00000588373.1,ENST00000344296.4
exon_skip_293484	17	73843655:73843690:73843876:73844011:73844650:73844743	73843876:73844011	ENSG00000132471.7	ENST00000586257.1,ENST00000585462.1,ENST00000591831.1,ENST00000591399.1,ENST00000589642.1,ENST00000254806.3,ENST00000593002.1,ENST00000588373.1,ENST00000344296.4
exon_skip_293486	17	73843876:73844011:73844650:73844743:73845684:73845820	73844650:73844743	ENSG00000132471.7	ENST00000585462.1,ENST00000591831.1,ENST00000590221.1,ENST00000591399.1,ENST00000587374.1,ENST00000589642.1,ENST00000254806.3,ENST00000593002.1,ENST00000588373.1,ENST00000344296.4
exon_skip_293489	17	73845684:73845820:73847648:73847757:73851204:73851285	73847648:73847757	ENSG00000132471.7	ENST00000593002.1
exon_skip_293490	17	73845684:73845820:73847648:73847757:73851260:73851403	73847648:73847757	ENSG00000132471.7	ENST00000585462.1,ENST00000589241.1
exon_skip_293491	17	73845684:73845820:73847648:73847757:73851319:73851387	73847648:73847757	ENSG00000132471.7	ENST00000591831.1,ENST00000590221.1,ENST00000591399.1,ENST00000433525.2,ENST00000416574.2,ENST00000590450.1,ENST00000589834.1
exon_skip_293492	17	73847648:73847757:73848736:73848901:73851319:73851387	73848736:73848901	ENSG00000132471.7	ENST00000588373.1,ENST00000344296.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for WBP2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_293483	17	73842853:73842868:73842988:73843065:73843567:73843678	73842988:73843065	ENSG00000132471.7	ENST00000254806.3,ENST00000585462.1,ENST00000591399.1,ENST00000590221.1,ENST00000586257.1,ENST00000588373.1,ENST00000344296.4,ENST00000433525.2,ENST00000589236.1
exon_skip_293484	17	73843655:73843690:73843876:73844011:73844650:73844743	73843876:73844011	ENSG00000132471.7	ENST00000254806.3,ENST00000585462.1,ENST00000591399.1,ENST00000591831.1,ENST00000586257.1,ENST00000588373.1,ENST00000344296.4,ENST00000589642.1,ENST00000593002.1
exon_skip_293486	17	73843876:73844011:73844650:73844743:73845684:73845820	73844650:73844743	ENSG00000132471.7	ENST00000254806.3,ENST00000585462.1,ENST00000591399.1,ENST00000591831.1,ENST00000590221.1,ENST00000588373.1,ENST00000344296.4,ENST00000589642.1,ENST00000587374.1,ENST00000593002.1
exon_skip_293489	17	73845684:73845820:73847648:73847757:73851204:73851285	73847648:73847757	ENSG00000132471.7	ENST00000593002.1
exon_skip_293490	17	73845684:73845820:73847648:73847757:73851260:73851403	73847648:73847757	ENSG00000132471.7	ENST00000585462.1,ENST00000589241.1
exon_skip_293491	17	73845684:73845820:73847648:73847757:73851319:73851387	73847648:73847757	ENSG00000132471.7	ENST00000591399.1,ENST00000591831.1,ENST00000590221.1,ENST00000433525.2,ENST00000416574.2,ENST00000590450.1,ENST00000589834.1
exon_skip_293492	17	73847648:73847757:73848736:73848901:73851319:73851387	73848736:73848901	ENSG00000132471.7	ENST00000588373.1,ENST00000344296.4

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 WBP2

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
ENST00000254806	73842988	73843065	Frame-shift
ENST00000591399	73842988	73843065	Frame-shift
ENST00000591399	73847648	73847757	Frame-shift
ENST00000254806	73843876	73844011	In-frame
ENST00000591399	73843876	73844011	In-frame
ENST00000254806	73844650	73844743	In-frame
ENST00000591399	73844650	73844743	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
ENST00000254806	73842988	73843065	Frame-shift
ENST00000591399	73842988	73843065	Frame-shift
ENST00000591399	73847648	73847757	Frame-shift
ENST00000254806	73843876	73844011	In-frame
ENST00000591399	73843876	73844011	In-frame
ENST00000254806	73844650	73844743	In-frame
ENST00000591399	73844650	73844743	In-frame

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Infer the effects of exon skipping event on protein functional features for WBP2

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
ENST00000254806	1961	261	73844650	73844743	428	520	101	132
ENST00000591399	2242	261	73844650	73844743	730	822	101	132
ENST00000254806	1961	261	73843876	73844011	521	655	132	177
ENST00000591399	2242	261	73843876	73844011	823	957	132	177

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
ENST00000254806	1961	261	73844650	73844743	428	520	101	132
ENST00000591399	2242	261	73844650	73844743	730	822	101	132
ENST00000254806	1961	261	73843876	73844011	521	655	132	177
ENST00000591399	2242	261	73843876	73844011	823	957	132	177

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
Q969T9	101	132	1	261	Chain	ID=PRO_0000065950;Note=WW domain-binding protein 2
Q969T9	101	132	1	261	Chain	ID=PRO_0000065950;Note=WW domain-binding protein 2
Q969T9	132	177	133	177	Alternative sequence	ID=VSP_059233;Note=In isoform 2. Missing
Q969T9	132	177	133	177	Alternative sequence	ID=VSP_059233;Note=In isoform 2. Missing
Q969T9	132	177	1	261	Chain	ID=PRO_0000065950;Note=WW domain-binding protein 2
Q969T9	132	177	1	261	Chain	ID=PRO_0000065950;Note=WW domain-binding protein 2
Q969T9	132	177	146	255	Compositional bias	Note=Pro-rich
Q969T9	132	177	146	255	Compositional bias	Note=Pro-rich
Q969T9	132	177	143	143	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	143	143	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	145	145	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	145	145	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	153	153	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	153	153	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	164	164	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	164	164	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	170	170	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	170	170	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	172	172	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	172	172	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	160	160	Natural variant	ID=VAR_079500;Note=In DFNB107. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26881968;Dbxref=dbSNP:rs202022024,PMID:26881968
Q969T9	132	177	160	160	Natural variant	ID=VAR_079500;Note=In DFNB107. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26881968;Dbxref=dbSNP:rs202022024,PMID:26881968
Q969T9	132	177	163	163	Natural variant	ID=VAR_079501;Note=In DFNB107%3B unknown pathological significance. M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26881968;Dbxref=PMID:26881968
Q969T9	132	177	163	163	Natural variant	ID=VAR_079501;Note=In DFNB107%3B unknown pathological significance. M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26881968;Dbxref=PMID:26881968

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
Q969T9	101	132	1	261	Chain	ID=PRO_0000065950;Note=WW domain-binding protein 2
Q969T9	101	132	1	261	Chain	ID=PRO_0000065950;Note=WW domain-binding protein 2
Q969T9	132	177	133	177	Alternative sequence	ID=VSP_059233;Note=In isoform 2. Missing
Q969T9	132	177	133	177	Alternative sequence	ID=VSP_059233;Note=In isoform 2. Missing
Q969T9	132	177	1	261	Chain	ID=PRO_0000065950;Note=WW domain-binding protein 2
Q969T9	132	177	1	261	Chain	ID=PRO_0000065950;Note=WW domain-binding protein 2
Q969T9	132	177	146	255	Compositional bias	Note=Pro-rich
Q969T9	132	177	146	255	Compositional bias	Note=Pro-rich
Q969T9	132	177	143	143	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	143	143	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	145	145	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	145	145	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	153	153	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	153	153	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	164	164	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	164	164	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	170	170	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	170	170	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	172	172	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	172	172	Mutagenesis	Note=No effect on phosphorylation induced by EGF. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21642474;Dbxref=PMID:21642474
Q969T9	132	177	160	160	Natural variant	ID=VAR_079500;Note=In DFNB107. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26881968;Dbxref=dbSNP:rs202022024,PMID:26881968
Q969T9	132	177	160	160	Natural variant	ID=VAR_079500;Note=In DFNB107. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26881968;Dbxref=dbSNP:rs202022024,PMID:26881968
Q969T9	132	177	163	163	Natural variant	ID=VAR_079501;Note=In DFNB107%3B unknown pathological significance. M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26881968;Dbxref=PMID:26881968
Q969T9	132	177	163	163	Natural variant	ID=VAR_079501;Note=In DFNB107%3B unknown pathological significance. M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26881968;Dbxref=PMID:26881968

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SNVs in the skipped exons for WBP2

- 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-A39Y-01	exon_skip_293484	73843877	73844011	73843882	73843882	Frame_Shift_Del	G	-	p.P177fs
CHOL	TCGA-W5-AA39-01	exon_skip_293490 exon_skip_293491 exon_skip_293489	73847649	73847757	73847681	73847681	Nonsense_Mutation	T	A	p.K46*
CHOL	TCGA-W5-AA39-01	exon_skip_293490 exon_skip_293491 exon_skip_293489	73847649	73847757	73847681	73847681	Nonsense_Mutation	T	A	p.K46X

- 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
SKNFI_AUTONOMIC_GANGLIA	73842989	73843065	73842996	73842996	Missense_Mutation	A	G	p.M242T
HEC108_ENDOMETRIUM	73842989	73843065	73843051	73843051	Missense_Mutation	C	T	p.A224T
SLR20_KIDNEY	73843877	73844011	73843910	73843910	Missense_Mutation	G	A	p.P167S
RMUGS_OVARY	73843877	73844011	73843931	73843931	Missense_Mutation	C	T	p.A160T
BICR18_UPPER_AERODIGESTIVE_TRACT	73843877	73844011	73843945	73843945	Missense_Mutation	T	A	p.Y155F
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73843877	73844011	73843954	73843954	Missense_Mutation	G	T	p.A152D
OVK18_OVARY	73843877	73844011	73843954	73843954	Missense_Mutation	G	T	p.A152D
TE1_OESOPHAGUS	73843877	73844011	73843954	73843954	Missense_Mutation	G	T	p.A152D
OVISE_OVARY	73843877	73844011	73843954	73843954	Missense_Mutation	G	T	p.A152D
IM95_STOMACH	73844651	73844743	73844675	73844675	Missense_Mutation	G	A	p.R125W
HGC27_STOMACH	73844651	73844743	73844686	73844686	Missense_Mutation	T	G	p.E121A
RCC10RGB_KIDNEY	73847649	73847757	73847669	73847669	Missense_Mutation	C	T	p.V50I
NCIH2171_LUNG	73847649	73847757	73847705	73847705	Missense_Mutation	C	T	p.V38M
NCIBL2171_MATCHED_NORMAL_TISSUE	73847649	73847757	73847705	73847705	Missense_Mutation	C	T	p.V38M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WBP2

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 WBP2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WBP2

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RelatedDrugs for WBP2

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 WBP2

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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