ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for WWC1

Gene summary

Gene information	Gene symbol	WWC1
	Gene ID	23286
	Gene name	WW and C2 domain containing 1
	Synonyms	HBEBP3\|HBEBP36\|KIBRA\|MEMRYQTL\|PPP1R168
	Cytomap	5q34
	Type of gene	protein-coding
	Description	protein KIBRAHBeAg-binding protein 3WW, C2 and coiled-coil domain containing 1kidney and brain proteinprotein WWC1protein phosphatase 1, regulatory subunit 168
	Modification date	20180519
	UniProtAcc	Q8IX03
	Context	PubMed: WWC1 [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
WWC1	GO:0000122	negative regulation of transcription by RNA polymerase II	24682284
WWC1	GO:0016477	cell migration	18596123
WWC1	GO:0035331	negative regulation of hippo signaling	24682284
WWC1	GO:0043410	positive regulation of MAPK cascade	18190796

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Exon skipping events across known transcript of Ensembl for WWC1 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 WWC1

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 WWC1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_439376	5	167719250:167719276:167798428:167798538:167812215:167812331	167798428:167798538	ENSG00000113645.9	ENST00000521089.1,ENST00000523043.1
exon_skip_439380	5	167798428:167798538:167812215:167812419:167824728:167824791	167812215:167812419	ENSG00000113645.9	ENST00000521089.1,ENST00000265293.4,ENST00000519859.1,ENST00000523043.1,ENST00000393895.3
exon_skip_439381	5	167812215:167812419:167824728:167824805:167826492:167826572	167824728:167824805	ENSG00000113645.9	ENST00000521089.1,ENST00000265293.4,ENST00000523043.1,ENST00000393895.3
exon_skip_439382	5	167826492:167826572:167833202:167833332:167835511:167835613	167833202:167833332	ENSG00000113645.9	ENST00000521089.1,ENST00000265293.4,ENST00000393895.3
exon_skip_439385	5	167836926:167837000:167838633:167838691:167839009:167839134	167838633:167838691	ENSG00000113645.9	ENST00000517425.1
exon_skip_439389	5	167836926:167837000:167841352:167841595:167849012:167849053	167841352:167841595	ENSG00000113645.9	ENST00000521089.1,ENST00000524228.1,ENST00000265293.4,ENST00000393895.3
exon_skip_439391	5	167838633:167838691:167839009:167839134:167841352:167841493	167839009:167839134	ENSG00000113645.9	ENST00000517425.1
exon_skip_439392	5	167849012:167849102:167850537:167851073:167855037:167855146	167850537:167851073	ENSG00000113645.9	ENST00000521089.1,ENST00000524228.1,ENST00000265293.4,ENST00000393895.3
exon_skip_439393	5	167855037:167855146:167855711:167855792:167857141:167857228	167855711:167855792	ENSG00000113645.9	ENST00000521089.1,ENST00000524228.1,ENST00000265293.4,ENST00000393895.3
exon_skip_439394	5	167858368:167858449:167868686:167868839:167871498:167871590	167868686:167868839	ENSG00000113645.9	ENST00000521089.1,ENST00000524228.1,ENST00000265293.4,ENST00000393895.3,ENST00000524038.1
exon_skip_439396	5	167858368:167858449:167868686:167868854:167871498:167871590	167868686:167868854	ENSG00000113645.9	ENST00000522140.1
exon_skip_439398	5	167868686:167868839:167871498:167871590:167880972:167881006	167871498:167871590	ENSG00000113645.9	ENST00000521089.1,ENST00000524228.1,ENST00000265293.4,ENST00000393895.3,ENST00000524038.1
exon_skip_439401	5	167871498:167871590:167880972:167881105:167882360:167882525	167880972:167881105	ENSG00000113645.9	ENST00000521089.1,ENST00000524228.1,ENST00000522140.1,ENST00000265293.4,ENST00000393895.3,ENST00000524038.1
exon_skip_439405	5	167887654:167887747:167891715:167891967:167894844:167894893	167891715:167891967	ENSG00000113645.9	ENST00000521089.1
exon_skip_439406	5	167887654:167887747:167891715:167891967:167894847:167894969	167891715:167891967	ENSG00000113645.9	ENST00000393895.3,ENST00000524038.1
exon_skip_439407	5	167887654:167887747:167891733:167891967:167894844:167894893	167891733:167891967	ENSG00000113645.9	ENST00000522140.1,ENST00000265293.4
exon_skip_439408	5	167887654:167887747:167891733:167891967:167894847:167894969	167891733:167891967	ENSG00000113645.9	ENST00000524228.1
exon_skip_439410	5	167891932:167891967:167894847:167894969:167899079:167899308	167894847:167894969	ENSG00000113645.9	ENST00000521391.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for WWC1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_439376	5	167719250:167719276:167798428:167798538:167812215:167812331	167798428:167798538	ENSG00000113645.9	ENST00000521089.1,ENST00000523043.1
exon_skip_439380	5	167798428:167798538:167812215:167812419:167824728:167824791	167812215:167812419	ENSG00000113645.9	ENST00000265293.4,ENST00000521089.1,ENST00000523043.1,ENST00000519859.1,ENST00000393895.3
exon_skip_439381	5	167812215:167812419:167824728:167824805:167826492:167826572	167824728:167824805	ENSG00000113645.9	ENST00000265293.4,ENST00000521089.1,ENST00000523043.1,ENST00000393895.3
exon_skip_439382	5	167826492:167826572:167833202:167833332:167835511:167835613	167833202:167833332	ENSG00000113645.9	ENST00000265293.4,ENST00000521089.1,ENST00000393895.3
exon_skip_439385	5	167836926:167837000:167838633:167838691:167839009:167839134	167838633:167838691	ENSG00000113645.9	ENST00000517425.1
exon_skip_439389	5	167836926:167837000:167841352:167841595:167849012:167849053	167841352:167841595	ENSG00000113645.9	ENST00000265293.4,ENST00000521089.1,ENST00000393895.3,ENST00000524228.1
exon_skip_439391	5	167838633:167838691:167839009:167839134:167841352:167841493	167839009:167839134	ENSG00000113645.9	ENST00000517425.1
exon_skip_439392	5	167849012:167849102:167850537:167851073:167855037:167855146	167850537:167851073	ENSG00000113645.9	ENST00000265293.4,ENST00000521089.1,ENST00000393895.3,ENST00000524228.1
exon_skip_439393	5	167855037:167855146:167855711:167855792:167857141:167857228	167855711:167855792	ENSG00000113645.9	ENST00000265293.4,ENST00000521089.1,ENST00000393895.3,ENST00000524228.1
exon_skip_439394	5	167858368:167858449:167868686:167868839:167871498:167871590	167868686:167868839	ENSG00000113645.9	ENST00000265293.4,ENST00000521089.1,ENST00000393895.3,ENST00000524228.1,ENST00000524038.1
exon_skip_439396	5	167858368:167858449:167868686:167868854:167871498:167871590	167868686:167868854	ENSG00000113645.9	ENST00000522140.1
exon_skip_439398	5	167868686:167868839:167871498:167871590:167880972:167881006	167871498:167871590	ENSG00000113645.9	ENST00000265293.4,ENST00000521089.1,ENST00000393895.3,ENST00000524228.1,ENST00000524038.1
exon_skip_439401	5	167871498:167871590:167880972:167881105:167882360:167882525	167880972:167881105	ENSG00000113645.9	ENST00000265293.4,ENST00000521089.1,ENST00000393895.3,ENST00000524228.1,ENST00000524038.1,ENST00000522140.1
exon_skip_439405	5	167887654:167887747:167891715:167891967:167894844:167894893	167891715:167891967	ENSG00000113645.9	ENST00000521089.1
exon_skip_439406	5	167887654:167887747:167891715:167891967:167894847:167894969	167891715:167891967	ENSG00000113645.9	ENST00000393895.3,ENST00000524038.1
exon_skip_439407	5	167887654:167887747:167891733:167891967:167894844:167894893	167891733:167891967	ENSG00000113645.9	ENST00000265293.4,ENST00000522140.1
exon_skip_439408	5	167887654:167887747:167891733:167891967:167894847:167894969	167891733:167891967	ENSG00000113645.9	ENST00000524228.1
exon_skip_439410	5	167891932:167891967:167894847:167894969:167899079:167899308	167894847:167894969	ENSG00000113645.9	ENST00000521391.1

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 WWC1

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
ENST00000265293	167824728	167824805	Frame-shift
ENST00000265293	167833202	167833332	Frame-shift
ENST00000265293	167850537	167851073	Frame-shift
ENST00000265293	167871498	167871590	Frame-shift
ENST00000265293	167880972	167881105	Frame-shift
ENST00000265293	167812215	167812419	In-frame
ENST00000265293	167841352	167841595	In-frame
ENST00000265293	167855711	167855792	In-frame
ENST00000265293	167868686	167868839	In-frame
ENST00000265293	167891733	167891967	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
ENST00000265293	167824728	167824805	Frame-shift
ENST00000265293	167833202	167833332	Frame-shift
ENST00000265293	167850537	167851073	Frame-shift
ENST00000265293	167871498	167871590	Frame-shift
ENST00000265293	167880972	167881105	Frame-shift
ENST00000265293	167812215	167812419	In-frame
ENST00000265293	167841352	167841595	In-frame
ENST00000265293	167855711	167855792	In-frame
ENST00000265293	167868686	167868839	In-frame
ENST00000265293	167891733	167891967	In-frame

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Infer the effects of exon skipping event on protein functional features for WWC1

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
ENST00000265293	7147	1113	167812215	167812419	732	935	76	144
ENST00000265293	7147	1113	167841352	167841595	1444	1686	314	394
ENST00000265293	7147	1113	167855711	167855792	2422	2502	640	666
ENST00000265293	7147	1113	167868686	167868839	2783	2935	760	811
ENST00000265293	7147	1113	167891733	167891967	3419	3652	972	1050

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
ENST00000265293	7147	1113	167812215	167812419	732	935	76	144
ENST00000265293	7147	1113	167841352	167841595	1444	1686	314	394
ENST00000265293	7147	1113	167855711	167855792	2422	2502	640	666
ENST00000265293	7147	1113	167868686	167868839	2783	2935	760	811
ENST00000265293	7147	1113	167891733	167891967	3419	3652	972	1050

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
Q8IX03	76	144	1	1113	Chain	ID=PRO_0000242153;Note=Protein KIBRA
Q8IX03	76	144	107	193	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IX03	76	144	53	86	Domain	Note=WW 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q8IX03	76	144	141	141	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q5SXA9
Q8IX03	314	394	1	1113	Chain	ID=PRO_0000242153;Note=Protein KIBRA
Q8IX03	314	394	293	431	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IX03	640	666	660	669	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2Z0U
Q8IX03	640	666	1	1113	Chain	ID=PRO_0000242153;Note=Protein KIBRA
Q8IX03	640	666	655	783	Domain	Note=C2
Q8IX03	760	811	757	766	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2Z0U
Q8IX03	760	811	772	775	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6FB4
Q8IX03	760	811	777	784	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2Z0U
Q8IX03	760	811	1	1113	Chain	ID=PRO_0000242153;Note=Protein KIBRA
Q8IX03	760	811	655	783	Domain	Note=C2
Q8IX03	760	811	811	811	Sequence conflict	Note=T->TVSWDQ;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8IX03	972	1050	974	974	Alternative sequence	ID=VSP_019448;Note=In isoform 2. S->SPPPQPS;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10048485,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10048485,PMID:14702039,PMID:17974005
Q8IX03	972	1050	1	1113	Chain	ID=PRO_0000242153;Note=Protein KIBRA
Q8IX03	972	1050	1001	1032	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IX03	972	1050	975	975	Modified residue	Note=Phosphoserine%3B by PKC/PRKCZ;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15081397;Dbxref=PMID:15081397
Q8IX03	972	1050	978	978	Modified residue	Note=Phosphoserine%3B by PKC/PRKCZ;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15081397;Dbxref=PMID:15081397
Q8IX03	972	1050	839	1113	Region	Note=Interaction with histone H3
Q8IX03	972	1050	953	996	Region	Note=Interaction with PRKCZ

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
Q8IX03	76	144	1	1113	Chain	ID=PRO_0000242153;Note=Protein KIBRA
Q8IX03	76	144	107	193	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IX03	76	144	53	86	Domain	Note=WW 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q8IX03	76	144	141	141	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q5SXA9
Q8IX03	314	394	1	1113	Chain	ID=PRO_0000242153;Note=Protein KIBRA
Q8IX03	314	394	293	431	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IX03	640	666	660	669	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2Z0U
Q8IX03	640	666	1	1113	Chain	ID=PRO_0000242153;Note=Protein KIBRA
Q8IX03	640	666	655	783	Domain	Note=C2
Q8IX03	760	811	757	766	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2Z0U
Q8IX03	760	811	772	775	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6FB4
Q8IX03	760	811	777	784	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2Z0U
Q8IX03	760	811	1	1113	Chain	ID=PRO_0000242153;Note=Protein KIBRA
Q8IX03	760	811	655	783	Domain	Note=C2
Q8IX03	760	811	811	811	Sequence conflict	Note=T->TVSWDQ;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8IX03	972	1050	974	974	Alternative sequence	ID=VSP_019448;Note=In isoform 2. S->SPPPQPS;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10048485,ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10048485,PMID:14702039,PMID:17974005
Q8IX03	972	1050	1	1113	Chain	ID=PRO_0000242153;Note=Protein KIBRA
Q8IX03	972	1050	1001	1032	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IX03	972	1050	975	975	Modified residue	Note=Phosphoserine%3B by PKC/PRKCZ;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15081397;Dbxref=PMID:15081397
Q8IX03	972	1050	978	978	Modified residue	Note=Phosphoserine%3B by PKC/PRKCZ;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15081397;Dbxref=PMID:15081397
Q8IX03	972	1050	839	1113	Region	Note=Interaction with histone H3
Q8IX03	972	1050	953	996	Region	Note=Interaction with PRKCZ

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SNVs in the skipped exons for WWC1

- 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-A3A0-01	exon_skip_439380	167812216	167812419	167812315	167812315	Frame_Shift_Del	A	-	p.Q110fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_439382	167833203	167833332	167833275	167833275	Frame_Shift_Del	A	-	p.T221fs
LIHC	TCGA-DD-A39Y-01	exon_skip_439389	167841353	167841595	167841405	167841405	Frame_Shift_Del	G	-	p.G332fs
UCEC	TCGA-AP-A0LD-01	exon_skip_439389	167841353	167841595	167841544	167841544	Frame_Shift_Del	A	-	p.E378fs
STAD	TCGA-BR-4361-01	exon_skip_439392	167850538	167851073	167850888	167850888	Frame_Shift_Del	C	-	p.S542fs
LIHC	TCGA-DD-A39Y-01	exon_skip_439392	167850538	167851073	167850894	167850894	Frame_Shift_Del	C	-	p.S544fs
LUAD	TCGA-L9-A443-01	exon_skip_439392	167850538	167851073	167851021	167851021	Frame_Shift_Del	G	-	p.Q586fs
LIHC	TCGA-DD-A3A0-01	exon_skip_439401	167880973	167881105	167881056	167881056	Frame_Shift_Del	T	-	p.V870fs
LIHC	TCGA-DD-A39Y-01	exon_skip_439407 exon_skip_439406 exon_skip_439405 exon_skip_439408	167891716	167891967	167891720	167891720	Frame_Shift_Del	C	-	p.S974fs
LIHC	TCGA-BC-A10S-01	exon_skip_439389	167841353	167841595	167841541	167841542	Frame_Shift_Ins	-	G	p.R377fs
LUAD	TCGA-MP-A4TA-01	exon_skip_439376	167798429	167798538	167798481	167798481	Nonsense_Mutation	G	T	p.G58*
BLCA	TCGA-DK-AA71-01	exon_skip_439380	167812216	167812419	167812239	167812239	Nonsense_Mutation	C	T	p.R85*
HNSC	TCGA-CV-7435-01	exon_skip_439380	167812216	167812419	167812359	167812359	Nonsense_Mutation	C	T	p.Q125*
BLCA	TCGA-K4-AAQO-01	exon_skip_439382	167833203	167833332	167833249	167833249	Nonsense_Mutation	G	T	p.E213*
UCEC	TCGA-D1-A16J-01	exon_skip_439392	167850538	167851073	167850639	167850639	Nonsense_Mutation	C	A	p.S459*
STAD	TCGA-BR-4368-01	exon_skip_439392	167850538	167851073	167850695	167850695	Nonsense_Mutation	C	T	p.Q478*
STAD	TCGA-BR-4368-01	exon_skip_439392	167850538	167851073	167850695	167850695	Nonsense_Mutation	C	T	p.Q478X
LUSC	TCGA-39-5024-01	exon_skip_439392	167850538	167851073	167850747	167850747	Nonsense_Mutation	C	G	p.S495*
BLCA	TCGA-MV-A51V-01	exon_skip_439393	167855712	167855792	167855723	167855723	Nonsense_Mutation	C	A	p.S644*
BLCA	TCGA-XF-AAN2-01	exon_skip_439393	167855712	167855792	167855779	167855779	Nonsense_Mutation	C	T	p.Q663*
GBM	TCGA-06-0192-01	exon_skip_439394	167868687	167868839	167868746	167868746	Nonsense_Mutation	G	A	p.W780*
GBM	TCGA-06-0192-01	exon_skip_439396	167868687	167868854	167868746	167868746	Nonsense_Mutation	G	A	p.W780*
UCEC	TCGA-BS-A0UF-01	exon_skip_439401	167880973	167881105	167881049	167881049	Nonsense_Mutation	G	T	p.E868*
LUAD	TCGA-64-5815-01	exon_skip_439401	167880973	167881105	167881064	167881064	Nonsense_Mutation	G	T	p.E873*
LUAD	TCGA-75-6214-01	exon_skip_439407 exon_skip_439406 exon_skip_439405 exon_skip_439408	167891716	167891967	167891839	167891839	Nonsense_Mutation	G	T	p.E1008*
LUAD	TCGA-75-6214-01	exon_skip_439407 exon_skip_439406 exon_skip_439405 exon_skip_439408	167891734	167891967	167891839	167891839	Nonsense_Mutation	G	T	p.E1008*
LIHC	TCGA-DD-AACT-01	exon_skip_439382	167833203	167833332	167833201	167833201	Splice_Site	A	T	.

- 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
SNU349_KIDNEY	167798429	167798538	167798523	167798524	Frame_Shift_Del	AT	-	p.I72fs
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167833203	167833332	167833321	167833321	Frame_Shift_Del	G	-	p.D237fs
CW2_LARGE_INTESTINE	167850538	167851073	167850888	167850888	Frame_Shift_Del	C	-	p.S542fs
ES4_BONE	167850538	167851073	167851053	167851053	Frame_Shift_Del	A	-	p.E597fs
A431_SKIN	167824729	167824805	167824764	167824765	Frame_Shift_Ins	-	CT	p.P157fs
SISO_CERVIX	167894848	167894969	167894875	167894876	Frame_Shift_Ins	-	T	p.L1061fs
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167894848	167894969	167894875	167894876	Frame_Shift_Ins	-	T	p.L1061fs
HEP3B217_LIVER	167812216	167812419	167812300	167812300	Missense_Mutation	A	T	p.E105V
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167812216	167812419	167812357	167812357	Missense_Mutation	C	T	p.A124V
DMS79_LUNG	167812216	167812419	167812386	167812386	Missense_Mutation	G	A	p.V134I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167833203	167833332	167833238	167833238	Missense_Mutation	A	G	p.Y209C
RCCMF_KIDNEY	167841353	167841595	167841378	167841378	Missense_Mutation	G	A	p.A323T
CP67MEL_SKIN	167841353	167841595	167841438	167841438	Missense_Mutation	C	T	p.L343F
NCIH1048_LUNG	167841353	167841595	167841447	167841447	Missense_Mutation	G	A	p.E346K
MDAMB453_BREAST	167841353	167841595	167841468	167841468	Missense_Mutation	G	C	p.E353Q
OELE_OVARY	167841353	167841595	167841487	167841487	Missense_Mutation	C	T	p.P359L
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167841353	167841595	167841565	167841565	Missense_Mutation	G	A	p.R385Q
NCIH69_LUNG	167841353	167841595	167841581	167841581	Missense_Mutation	G	T	p.K390N
DU4475_BREAST	167841353	167841595	167841591	167841591	Missense_Mutation	G	A	p.E394K
HEC6_ENDOMETRIUM	167850538	167851073	167850553	167850553	Missense_Mutation	G	A	p.M430I
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167850538	167851073	167850636	167850636	Missense_Mutation	C	T	p.T458I
SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167850538	167851073	167850636	167850636	Missense_Mutation	C	T	p.T458I
NCIH2591_PLEURA	167850538	167851073	167850650	167850650	Missense_Mutation	A	C	p.T463P
ACHN_KIDNEY	167850538	167851073	167850660	167850660	Missense_Mutation	A	T	p.Y466F
MZ7MEL_SKIN	167850538	167851073	167850779	167850779	Missense_Mutation	G	A	p.V506M
SEKI_SKIN	167850538	167851073	167850783	167850783	Missense_Mutation	C	A	p.A507D
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167850538	167851073	167850820	167850820	Missense_Mutation	G	T	p.Q519H
OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167850538	167851073	167850887	167850887	Missense_Mutation	T	C	p.S542P
K029AX_SKIN	167850538	167851073	167850971	167850971	Missense_Mutation	C	T	p.P570S
SNU349_KIDNEY	167850538	167851073	167851016	167851016	Missense_Mutation	G	A	p.A585T
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167850538	167851073	167851016	167851016	Missense_Mutation	G	A	p.A585T
VMRCRCZ_KIDNEY	167850538	167851073	167851016	167851016	Missense_Mutation	G	A	p.A585T
HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167850538	167851073	167851040	167851040	Missense_Mutation	G	A	p.E593K
SNU1040_LARGE_INTESTINE	167855712	167855792	167855764	167855764	Missense_Mutation	G	T	p.G658C
HEC108_ENDOMETRIUM	167868687	167868839	167868720	167868720	Missense_Mutation	C	T	p.R772W
HEC108_ENDOMETRIUM	167868687	167868854	167868720	167868720	Missense_Mutation	C	T	p.R772W
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167868687	167868839	167868756	167868756	Missense_Mutation	C	G	p.L784V
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167868687	167868854	167868756	167868756	Missense_Mutation	C	G	p.L784V
HCC2108_LUNG	167871499	167871590	167871502	167871502	Missense_Mutation	G	T	p.A813S
ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167880973	167881105	167881034	167881034	Missense_Mutation	G	A	p.E863K
NUGC2_STOMACH	167880973	167881105	167881085	167881085	Missense_Mutation	G	C	p.D880H
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	167880973	167881105	167881085	167881085	Missense_Mutation	G	C	p.D880H
PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167891734	167891967	167891764	167891764	Missense_Mutation	C	T	p.R983C
PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	167891716	167891967	167891764	167891764	Missense_Mutation	C	T	p.R983C
EFM19_BREAST	167891734	167891967	167891770	167891770	Missense_Mutation	A	G	p.I985V
EFM19_BREAST	167891716	167891967	167891770	167891770	Missense_Mutation	A	G	p.I985V
HCT15_LARGE_INTESTINE	167891734	167891967	167891800	167891800	Missense_Mutation	C	A	p.L995M
HCT15_LARGE_INTESTINE	167891716	167891967	167891800	167891800	Missense_Mutation	C	A	p.L995M
LN18_CENTRAL_NERVOUS_SYSTEM	167891734	167891967	167891875	167891875	Missense_Mutation	G	C	p.E1020Q
LN18_CENTRAL_NERVOUS_SYSTEM	167891716	167891967	167891875	167891875	Missense_Mutation	G	C	p.E1020Q
HT115_LARGE_INTESTINE	167891734	167891967	167891887	167891887	Missense_Mutation	A	G	p.S1024G
HT115_LARGE_INTESTINE	167891716	167891967	167891887	167891887	Missense_Mutation	A	G	p.S1024G
SKUT1_SOFT_TISSUE	167891734	167891967	167891938	167891938	Missense_Mutation	C	T	p.R1041C
SKUT1_SOFT_TISSUE	167891716	167891967	167891938	167891938	Missense_Mutation	C	T	p.R1041C
SKMEL24_SKIN	167891734	167891967	167891965	167891965	Missense_Mutation	C	T	p.R1050W
SKMEL24_SKIN	167891716	167891967	167891965	167891965	Missense_Mutation	C	T	p.R1050W
NY_BONE	167894848	167894969	167894855	167894855	Missense_Mutation	G	A	p.R1054Q
SW48_LARGE_INTESTINE	167812216	167812419	167812239	167812239	Nonsense_Mutation	C	T	p.R85*
SNB75_CENTRAL_NERVOUS_SYSTEM	167894848	167894969	167894854	167894854	Nonsense_Mutation	C	T	p.R1054*
COLO668_LUNG	167868687	167868839	167868839	167868839	Splice_Site	G	T	p.T811T
COLO668_LUNG	167868687	167868854	167868839	167868839	Splice_Site	G	T	p.T811T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WWC1

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 WWC1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WWC1

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RelatedDrugs for WWC1

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 WWC1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
WWC1	C0011570	Mental Depression	1	PSYGENET
WWC1	C0011581	Depressive disorder	1	PSYGENET
WWC1	C0033975	Psychotic Disorders	1	PSYGENET
WWC1	C0345967	Malignant mesothelioma	1	CTD_human
WWC1	C0349204	Nonorganic psychosis	1	PSYGENET

	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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