ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for VPS13B

Gene summary

Gene information	Gene symbol	VPS13B
	Gene ID	157680
	Gene name	vacuolar protein sorting 13 homolog B
	Synonyms	CHS1\|COH1
	Cytomap	8q22.2
	Type of gene	protein-coding
	Description	vacuolar protein sorting-associated protein 13B
	Modification date	20180519
	UniProtAcc	Q7Z7G8
	Context	PubMed: VPS13B [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 VPS13B 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 VPS13B

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 VPS13B

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_485156	8	100025987:100026163:100050650:100050794:100108539:100108660	100050650:100050794	ENSG00000132549.14	ENST00000355155.1,ENST00000358544.2,ENST00000441350.2,ENST00000496144.1,ENST00000395996.1,ENST00000357162.2
exon_skip_485159	8	100148892:100148980:100155201:100155393:100160068:100160238	100155201:100155393	ENSG00000132549.14	ENST00000355155.1,ENST00000358544.2,ENST00000496144.1,ENST00000395996.1,ENST00000357162.2
exon_skip_485160	8	100160068:100160238:100168776:100168971:100182266:100182391	100168776:100168971	ENSG00000132549.14	ENST00000355155.1,ENST00000358544.2,ENST00000496144.1,ENST00000395996.1,ENST00000357162.2
exon_skip_485161	8	100205103:100205285:100286425:100286560:100287308:100287482	100286425:100286560	ENSG00000132549.14	ENST00000358544.2,ENST00000496144.1,ENST00000395996.1,ENST00000357162.2
exon_skip_485166	8	100403784:100403932:100443764:100443892:100454628:100454639	100443764:100443892	ENSG00000132549.14	ENST00000358544.2,ENST00000496144.1,ENST00000395996.1,ENST00000357162.2
exon_skip_485168	8	100513914:100514086:100515063:100515178:100519364:100519431	100515063:100515178	ENSG00000132549.14	ENST00000496144.1,ENST00000395996.1,ENST00000357162.2
exon_skip_485178	8	100515063:100515178:100519364:100519431:100519997:100520139	100519364:100519431	ENSG00000132549.14	ENST00000496144.1,ENST00000395996.1
exon_skip_485179	8	100515063:100515178:100519364:100519431:100523331:100523740	100519364:100519431	ENSG00000132549.14	ENST00000357162.2
exon_skip_485180	8	100515063:100515178:100519997:100520139:100523331:100523740	100519997:100520139	ENSG00000132549.14	ENST00000358544.2
exon_skip_485182	8	100519364:100519431:100519997:100520139:100523331:100523740	100519997:100520139	ENSG00000132549.14	ENST00000496144.1,ENST00000395996.1
exon_skip_485183	8	100533126:100533238:100568677:100568881:100587885:100588012	100568677:100568881	ENSG00000132549.14	ENST00000358544.2,ENST00000496144.1,ENST00000395996.1,ENST00000357162.2
exon_skip_485184	8	100589717:100589861:100654038:100654726:100673581:100673719	100654038:100654726	ENSG00000132549.14	ENST00000358544.2,ENST00000395996.1,ENST00000357162.2
exon_skip_485185	8	100779001:100779198:100789002:100789184:100790909:100791063	100789002:100789184	ENSG00000132549.14	ENST00000358544.2,ENST00000395996.1,ENST00000357162.2
exon_skip_485187	8	100796542:100796704:100821602:100821758:100829767:100830031	100821602:100821758	ENSG00000132549.14	ENST00000358544.2,ENST00000395996.1,ENST00000357162.2
exon_skip_485188	8	100830940:100831116:100831639:100831810:100832148:100832350	100831639:100831810	ENSG00000132549.14	ENST00000358544.2,ENST00000395996.1,ENST00000357162.2
exon_skip_485190	8	100836059:100836206:100844596:100844880:100847424:100847552	100844596:100844880	ENSG00000132549.14	ENST00000358544.2,ENST00000395996.1,ENST00000357162.2
exon_skip_485192	8	100865678:100866484:100871531:100871708:100874003:100874174	100871531:100871708	ENSG00000132549.14	ENST00000358544.2,ENST00000395996.1,ENST00000357162.2
exon_skip_485193	8	100874003:100874174:100880516:100880693:100883012:100883115	100880516:100880693	ENSG00000132549.14	ENST00000358544.2,ENST00000395996.1,ENST00000357162.2
exon_skip_485194	8	100880516:100880693:100883012:100883115:100883675:100883925	100883012:100883115	ENSG00000132549.14	ENST00000358544.2,ENST00000395996.1,ENST00000357162.2
exon_skip_485195	8	100880516:100880693:100883012:100883925:100887645:100889807	100883012:100883925	ENSG00000132549.14	ENST00000493587.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for VPS13B

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_485156	8	100025987:100026163:100050650:100050794:100108539:100108660	100050650:100050794	ENSG00000132549.14	ENST00000355155.1,ENST00000496144.1,ENST00000357162.2,ENST00000358544.2,ENST00000395996.1,ENST00000441350.2
exon_skip_485159	8	100148892:100148980:100155201:100155393:100160068:100160238	100155201:100155393	ENSG00000132549.14	ENST00000355155.1,ENST00000496144.1,ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485160	8	100160068:100160238:100168776:100168971:100182266:100182391	100168776:100168971	ENSG00000132549.14	ENST00000355155.1,ENST00000496144.1,ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485161	8	100205103:100205285:100286425:100286560:100287308:100287482	100286425:100286560	ENSG00000132549.14	ENST00000496144.1,ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485166	8	100403784:100403932:100443764:100443892:100454628:100454639	100443764:100443892	ENSG00000132549.14	ENST00000496144.1,ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485168	8	100513914:100514086:100515063:100515178:100519364:100519431	100515063:100515178	ENSG00000132549.14	ENST00000496144.1,ENST00000357162.2,ENST00000395996.1
exon_skip_485178	8	100515063:100515178:100519364:100519431:100519997:100520139	100519364:100519431	ENSG00000132549.14	ENST00000496144.1,ENST00000395996.1
exon_skip_485179	8	100515063:100515178:100519364:100519431:100523331:100523740	100519364:100519431	ENSG00000132549.14	ENST00000357162.2
exon_skip_485180	8	100515063:100515178:100519997:100520139:100523331:100523740	100519997:100520139	ENSG00000132549.14	ENST00000358544.2
exon_skip_485182	8	100519364:100519431:100519997:100520139:100523331:100523740	100519997:100520139	ENSG00000132549.14	ENST00000496144.1,ENST00000395996.1
exon_skip_485183	8	100533126:100533238:100568677:100568881:100587885:100588012	100568677:100568881	ENSG00000132549.14	ENST00000496144.1,ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485184	8	100589717:100589861:100654038:100654726:100673581:100673719	100654038:100654726	ENSG00000132549.14	ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485185	8	100779001:100779198:100789002:100789184:100790909:100791063	100789002:100789184	ENSG00000132549.14	ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485187	8	100796542:100796704:100821602:100821758:100829767:100830031	100821602:100821758	ENSG00000132549.14	ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485188	8	100830940:100831116:100831639:100831810:100832148:100832350	100831639:100831810	ENSG00000132549.14	ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485190	8	100836059:100836206:100844596:100844880:100847424:100847552	100844596:100844880	ENSG00000132549.14	ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485192	8	100865678:100866484:100871531:100871708:100874003:100874174	100871531:100871708	ENSG00000132549.14	ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485193	8	100874003:100874174:100880516:100880693:100883012:100883115	100880516:100880693	ENSG00000132549.14	ENST00000357162.2,ENST00000358544.2,ENST00000395996.1
exon_skip_485194	8	100880516:100880693:100883012:100883115:100883675:100883925	100883012:100883115	ENSG00000132549.14	ENST00000357162.2,ENST00000358544.2,ENST00000395996.1

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 VPS13B

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
ENST00000358544	100443764	100443892	Frame-shift
ENST00000358544	100519997	100520139	Frame-shift
ENST00000358544	100654038	100654726	Frame-shift
ENST00000358544	100789002	100789184	Frame-shift
ENST00000358544	100844596	100844880	Frame-shift
ENST00000358544	100883012	100883115	Frame-shift
ENST00000358544	100050650	100050794	In-frame
ENST00000358544	100155201	100155393	In-frame
ENST00000358544	100168776	100168971	In-frame
ENST00000358544	100286425	100286560	In-frame
ENST00000358544	100568677	100568881	In-frame
ENST00000358544	100821602	100821758	In-frame
ENST00000358544	100831639	100831810	In-frame
ENST00000358544	100871531	100871708	In-frame
ENST00000358544	100880516	100880693	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
ENST00000358544	100443764	100443892	Frame-shift
ENST00000358544	100519997	100520139	Frame-shift
ENST00000358544	100654038	100654726	Frame-shift
ENST00000358544	100789002	100789184	Frame-shift
ENST00000358544	100844596	100844880	Frame-shift
ENST00000358544	100883012	100883115	Frame-shift
ENST00000358544	100050650	100050794	In-frame
ENST00000358544	100155201	100155393	In-frame
ENST00000358544	100168776	100168971	In-frame
ENST00000358544	100286425	100286560	In-frame
ENST00000358544	100568677	100568881	In-frame
ENST00000358544	100821602	100821758	In-frame
ENST00000358544	100831639	100831810	In-frame
ENST00000358544	100871531	100871708	In-frame
ENST00000358544	100880516	100880693	In-frame

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Infer the effects of exon skipping event on protein functional features for VPS13B

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
ENST00000358544	14111	4022	100050650	100050794	259	402	49	97
ENST00000358544	14111	4022	100155201	100155393	1763	1954	550	614
ENST00000358544	14111	4022	100168776	100168971	2125	2319	671	736
ENST00000358544	14111	4022	100286425	100286560	2627	2761	838	883
ENST00000358544	14111	4022	100568677	100568881	4932	5135	1607	1674
ENST00000358544	14111	4022	100821602	100821758	8128	8283	2672	2724
ENST00000358544	14111	4022	100831639	100831810	8808	8978	2899	2955
ENST00000358544	14111	4022	100871531	100871708	11054	11230	3647	3706
ENST00000358544	14111	4022	100880516	100880693	11402	11578	3763	3822

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
ENST00000358544	14111	4022	100050650	100050794	259	402	49	97
ENST00000358544	14111	4022	100155201	100155393	1763	1954	550	614
ENST00000358544	14111	4022	100168776	100168971	2125	2319	671	736
ENST00000358544	14111	4022	100286425	100286560	2627	2761	838	883
ENST00000358544	14111	4022	100568677	100568881	4932	5135	1607	1674
ENST00000358544	14111	4022	100821602	100821758	8128	8283	2672	2724
ENST00000358544	14111	4022	100831639	100831810	8808	8978	2899	2955
ENST00000358544	14111	4022	100871531	100871708	11054	11230	3647	3706
ENST00000358544	14111	4022	100880516	100880693	11402	11578	3763	3822

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 VPS13B

- 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
COAD	TCGA-AY-6197-01	exon_skip_485156	100050651	100050794	100050671	100050671	Frame_Shift_Del	T	-	p.T56fs
LIHC	TCGA-DD-A39Y-01	exon_skip_485156	100050651	100050794	100050671	100050671	Frame_Shift_Del	T	-	p.T56fs
LIHC	TCGA-DD-A3A0-01	exon_skip_485156	100050651	100050794	100050671	100050671	Frame_Shift_Del	T	-	p.T56fs
STAD	TCGA-BR-7707-01	exon_skip_485156	100050651	100050794	100050671	100050671	Frame_Shift_Del	T	-	p.T56fs
STAD	TCGA-HJ-7597-01	exon_skip_485156	100050651	100050794	100050671	100050671	Frame_Shift_Del	T	-	p.T56fs
STAD	TCGA-HU-A4GT-01	exon_skip_485156	100050651	100050794	100050671	100050671	Frame_Shift_Del	T	-	p.T56fs
STAD	TCGA-HU-A4GU-01	exon_skip_485156	100050651	100050794	100050671	100050671	Frame_Shift_Del	T	-	p.T56fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_485160	100168777	100168971	100168807	100168807	Frame_Shift_Del	T	-	p.F682fs
ESCA	TCGA-JY-A93D-01	exon_skip_485161	100286426	100286560	100286533	100286533	Frame_Shift_Del	T	-	p.G874fs
ESCA	TCGA-JY-A93D-01	exon_skip_485161	100286426	100286560	100286533	100286533	Frame_Shift_Del	T	-	p.S875fs
LIHC	TCGA-DD-A39Y-01	exon_skip_485161	100286426	100286560	100286538	100286538	Frame_Shift_Del	A	-	p.I876fs
STAD	TCGA-BR-6452-01	exon_skip_485184	100654039	100654726	100654346	100654346	Frame_Shift_Del	A	-	p.E1868fs
UCEC	TCGA-BG-A0M4-01	exon_skip_485184	100654039	100654726	100654346	100654346	Frame_Shift_Del	A	-	p.E1868fs
LIHC	TCGA-G3-A25U-01	exon_skip_485184	100654039	100654726	100654474	100654474	Frame_Shift_Del	A	-	p.K1912fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_485188	100831640	100831810	100831696	100831696	Frame_Shift_Del	A	-	p.Q2918fs
LIHC	TCGA-DD-A1EG-01	exon_skip_485192	100871532	100871708	100871541	100871541	Frame_Shift_Del	T	-	p.V3651fs
LIHC	TCGA-DD-A1EG-01	exon_skip_485193	100880517	100880693	100880627	100880627	Frame_Shift_Del	G	-	p.G3801fs
ESCA	TCGA-L5-A8NH-01	exon_skip_485183	100568678	100568881	100568859	100568860	Frame_Shift_Ins	-	T	p.E1669fs
ESCA	TCGA-JY-A93D-01	exon_skip_485161	100286426	100286560	100286534	100286534	Nonsense_Mutation	C	A	p.S875*
ESCA	TCGA-JY-A93D-01	exon_skip_485161	100286426	100286560	100286534	100286534	Nonsense_Mutation	C	A	p.S875X
SKCM	TCGA-EB-A431-01	exon_skip_485166	100443765	100443892	100443865	100443865	Nonsense_Mutation	G	A	p.W1061*
SKCM	TCGA-EB-A431-01	exon_skip_485166	100443765	100443892	100443865	100443865	Nonsense_Mutation	G	A	p.W1061X
UCEC	TCGA-D1-A17Q-01	exon_skip_485166	100443765	100443892	100443865	100443865	Nonsense_Mutation	G	A	p.W1061*
THYM	TCGA-X7-A8D8-01	exon_skip_485168	100515064	100515178	100515147	100515147	Nonsense_Mutation	G	T	p.E1376X
READ	TCGA-EI-6917-01	exon_skip_485180 exon_skip_485182	100519998	100520139	100520086	100520086	Nonsense_Mutation	C	T	p.R1416X
SKCM	TCGA-GN-A266-06	exon_skip_485180 exon_skip_485182	100519998	100520139	100520086	100520086	Nonsense_Mutation	C	T	p.R1416*
SKCM	TCGA-GN-A266-06	exon_skip_485180 exon_skip_485182	100519998	100520139	100520086	100520086	Nonsense_Mutation	C	T	p.R1416X
SKCM	TCGA-D3-A51G-06	exon_skip_485183	100568678	100568881	100568703	100568703	Nonsense_Mutation	C	T	p.R1591X
SKCM	TCGA-D3-A51G-06	exon_skip_485183	100568678	100568881	100568703	100568703	Nonsense_Mutation	C	T	p.R1616*
STAD	TCGA-BR-8680-01	exon_skip_485183	100568678	100568881	100568703	100568703	Nonsense_Mutation	C	T	p.R1616*
STAD	TCGA-BR-8680-01	exon_skip_485183	100568678	100568881	100568703	100568703	Nonsense_Mutation	C	T	p.R1616X
UCS	TCGA-ND-A4WC-01	exon_skip_485183	100568678	100568881	100568703	100568703	Nonsense_Mutation	C	T	p.R1616*
UCS	TCGA-ND-A4WC-01	exon_skip_485183	100568678	100568881	100568703	100568703	Nonsense_Mutation	C	T	p.R1616X
LUSC	TCGA-33-6737-01	exon_skip_485183	100568678	100568881	100568799	100568799	Nonsense_Mutation	A	T	p.K1648*
COAD	TCGA-D5-6541-01	exon_skip_485184	100654039	100654726	100654048	100654048	Nonsense_Mutation	C	T	p.Q1744X
UCEC	TCGA-AP-A056-01	exon_skip_485184	100654039	100654726	100654663	100654663	Nonsense_Mutation	C	T	p.R1974*
COAD	TCGA-CM-4746-01	exon_skip_485187	100821603	100821758	100821644	100821644	Nonsense_Mutation	G	A	p.W2661X
SKCM	TCGA-EB-A85J-01	exon_skip_485188	100831640	100831810	100831734	100831734	Nonsense_Mutation	C	T	p.Q2931*
SKCM	TCGA-EE-A2MC-06	exon_skip_485188	100831640	100831810	100831746	100831746	Nonsense_Mutation	G	T	p.E2910X
SKCM	TCGA-EE-A2MC-06	exon_skip_485188	100831640	100831810	100831746	100831746	Nonsense_Mutation	G	T	p.E2935*

- 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
GP2D_LARGE_INTESTINE	100050651	100050794	100050671	100050671	Frame_Shift_Del	T	-	p.T56fs
SKUT1_SOFT_TISSUE	100050651	100050794	100050671	100050671	Frame_Shift_Del	T	-	p.T56fs
GP5D_LARGE_INTESTINE	100050651	100050794	100050671	100050671	Frame_Shift_Del	T	-	p.T56fs
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100050651	100050794	100050671	100050671	Frame_Shift_Del	T	-	p.T56fs
EN_ENDOMETRIUM	100286426	100286560	100286529	100286529	Frame_Shift_Del	G	-	p.M873fs
CCK81_LARGE_INTESTINE	100654039	100654726	100654346	100654346	Frame_Shift_Del	A	-	p.E1868fs
HEC151_ENDOMETRIUM	100654039	100654726	100654474	100654474	Frame_Shift_Del	A	-	p.K1912fs
MDAPCA2B_PROSTATE	100654039	100654726	100654474	100654474	Frame_Shift_Del	A	-	p.K1912fs
LNCAPCLONEFGC_PROSTATE	100654039	100654726	100654345	100654346	Frame_Shift_Ins	-	A	p.E1868fs
BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100654039	100654726	100654345	100654346	Frame_Shift_Ins	-	A	p.E1868fs
COLO741_SKIN	100654039	100654726	100654345	100654346	Frame_Shift_Ins	-	A	p.E1868fs
DETROIT562_UPPER_AERODIGESTIVE_TRACT	100654039	100654726	100654345	100654346	Frame_Shift_Ins	-	A	p.E1868fs
HEC6_ENDOMETRIUM	100654039	100654726	100654345	100654346	Frame_Shift_Ins	-	A	p.E1868fs
HS688AT_FIBROBLAST	100654039	100654726	100654345	100654346	Frame_Shift_Ins	-	A	p.E1868fs
KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100654039	100654726	100654345	100654346	Frame_Shift_Ins	-	A	p.E1868fs
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100654039	100654726	100654345	100654346	Frame_Shift_Ins	-	A	p.E1868fs
SCC4_UPPER_AERODIGESTIVE_TRACT	100654039	100654726	100654345	100654346	Frame_Shift_Ins	-	A	p.E1868fs
TE441T_SOFT_TISSUE	100654039	100654726	100654345	100654346	Frame_Shift_Ins	-	A	p.E1868fs
HMEL_BREAST	100050651	100050794	100050706	100050706	Missense_Mutation	A	G	p.H68R
CL34_LARGE_INTESTINE	100050651	100050794	100050714	100050714	Missense_Mutation	T	C	p.W71R
HCC15_LUNG	100050651	100050794	100050766	100050766	Missense_Mutation	G	C	p.C88S
MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100155202	100155393	100155300	100155300	Missense_Mutation	T	A	p.F584I
RH36_SOFT_TISSUE	100155202	100155393	100155333	100155333	Missense_Mutation	T	A	p.L595M
NMCG1_CENTRAL_NERVOUS_SYSTEM	100155202	100155393	100155349	100155349	Missense_Mutation	G	A	p.C600Y
IMR5_AUTONOMIC_GANGLIA	100168777	100168971	100168832	100168832	Missense_Mutation	C	T	p.S690F
JHUEM7_ENDOMETRIUM	100168777	100168971	100168838	100168838	Missense_Mutation	G	A	p.R692Q
BICR18_UPPER_AERODIGESTIVE_TRACT	100168777	100168971	100168838	100168838	Missense_Mutation	G	A	p.R692Q
EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100168777	100168971	100168919	100168919	Missense_Mutation	C	T	p.T719I
SNU1040_LARGE_INTESTINE	100168777	100168971	100168955	100168955	Missense_Mutation	T	C	p.V731A
HEC108_ENDOMETRIUM	100286426	100286560	100286488	100286488	Missense_Mutation	T	C	p.Y860H
BICR18_UPPER_AERODIGESTIVE_TRACT	100286426	100286560	100286527	100286527	Missense_Mutation	A	T	p.M873L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100286426	100286560	100286527	100286527	Missense_Mutation	A	T	p.M873L
NCIH1437_LUNG	100443765	100443892	100443771	100443771	Missense_Mutation	G	A	p.R1030H
SBC5_LUNG	100443765	100443892	100443771	100443771	Missense_Mutation	G	A	p.R1030H
TE4_OESOPHAGUS	100443765	100443892	100443771	100443771	Missense_Mutation	G	A	p.R1030H
EN_ENDOMETRIUM	100443765	100443892	100443789	100443789	Missense_Mutation	T	A	p.V1036D
DOTC24510_CERVIX	100515064	100515178	100515107	100515107	Missense_Mutation	A	G	p.I1362M
TUHR4TKB_KIDNEY	100515064	100515178	100515143	100515143	Missense_Mutation	A	T	p.K1374N
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100515064	100515178	100515147	100515147	Missense_Mutation	G	A	p.E1376K
ISTSL2_LUNG	100515064	100515178	100515172	100515172	Missense_Mutation	G	C	p.R1384T
NCIH510_LUNG	100519998	100520139	100520002	100520002	Missense_Mutation	G	T	p.G1388W
SNU1040_LARGE_INTESTINE	100519998	100520139	100520057	100520057	Missense_Mutation	A	G	p.D1406G
C75_LARGE_INTESTINE	100519998	100520139	100520128	100520128	Missense_Mutation	T	G	p.F1430V
GP2D_LARGE_INTESTINE	100654039	100654726	100654071	100654071	Missense_Mutation	A	G	p.I1776M
GP5D_LARGE_INTESTINE	100654039	100654726	100654071	100654071	Missense_Mutation	A	G	p.I1776M
HCT15_LARGE_INTESTINE	100654039	100654726	100654094	100654094	Missense_Mutation	C	A	p.T1784N
JHUEM7_ENDOMETRIUM	100654039	100654726	100654102	100654102	Missense_Mutation	C	T	p.R1787C
MET2B	100654039	100654726	100654102	100654102	Missense_Mutation	C	T	p.R1787C
KYSE150_OESOPHAGUS	100654039	100654726	100654102	100654102	Missense_Mutation	C	T	p.R1787C
HEC50B_ENDOMETRIUM	100654039	100654726	100654120	100654120	Missense_Mutation	G	C	p.D1793H
SNU1040_LARGE_INTESTINE	100654039	100654726	100654256	100654256	Missense_Mutation	A	G	p.D1838G
GMEL_SKIN	100654039	100654726	100654405	100654405	Missense_Mutation	A	T	p.N1888Y
DANG_PANCREAS	100654039	100654726	100654449	100654449	Missense_Mutation	G	C	p.R1902S
CAMA1_BREAST	100654039	100654726	100654597	100654597	Missense_Mutation	G	C	p.E1952Q
LAN2_AUTONOMIC_GANGLIA	100789003	100789184	100789074	100789074	Missense_Mutation	C	T	p.T2465I
HMVII_SKIN	100789003	100789184	100789095	100789095	Missense_Mutation	C	T	p.T2472I
EW24_BONE	100789003	100789184	100789145	100789145	Missense_Mutation	G	C	p.E2489Q
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100821603	100821758	100821616	100821616	Missense_Mutation	G	A	p.C2677Y
EW1_BONE	100821603	100821758	100821695	100821695	Missense_Mutation	G	T	p.Q2703H
HEC108_ENDOMETRIUM	100831640	100831810	100831648	100831648	Missense_Mutation	A	G	p.Y2902C
RKN_SOFT_TISSUE	100831640	100831810	100831696	100831696	Missense_Mutation	A	T	p.Q2918L
NCIH1734_LUNG	100831640	100831810	100831716	100831716	Missense_Mutation	C	T	p.P2925S
HEC251_ENDOMETRIUM	100831640	100831810	100831751	100831751	Missense_Mutation	C	A	p.F2936L
HS870T_FIBROBLAST	100831640	100831810	100831774	100831774	Missense_Mutation	A	G	p.Q2944R
IGROV1_OVARY	100844597	100844880	100844604	100844604	Missense_Mutation	G	A	p.R3138H
HT1197_URINARY_TRACT	100844597	100844880	100844811	100844811	Missense_Mutation	G	C	p.R3207T
HEC59_ENDOMETRIUM	100871532	100871708	100871625	100871625	Missense_Mutation	A	G	p.Y3679C
NCIH1770_LUNG	100871532	100871708	100871630	100871630	Missense_Mutation	G	A	p.G3681R
NCIH2106_LUNG	100871532	100871708	100871630	100871630	Missense_Mutation	G	A	p.G3681R
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100871532	100871708	100871640	100871640	Missense_Mutation	G	A	p.R3684Q
SNUC4_LARGE_INTESTINE	100871532	100871708	100871670	100871670	Missense_Mutation	C	T	p.S3694F
COLO201_LARGE_INTESTINE	100880517	100880693	100880544	100880544	Missense_Mutation	C	A	p.P3773Q
COLO205_LARGE_INTESTINE	100880517	100880693	100880544	100880544	Missense_Mutation	C	A	p.P3773Q
KMRC1_KIDNEY	100880517	100880693	100880544	100880544	Missense_Mutation	C	T	p.P3773L
SW962_VULVA	100880517	100880693	100880567	100880567	Missense_Mutation	T	C	p.S3781P
HEC6_ENDOMETRIUM	100880517	100880693	100880577	100880577	Missense_Mutation	A	G	p.Q3784R
SW48_LARGE_INTESTINE	100880517	100880693	100880619	100880619	Missense_Mutation	T	C	p.V3798A
JHUEM7_ENDOMETRIUM	100883013	100883925	100883112	100883112	Missense_Mutation	T	C	p.V3856A
JHUEM7_ENDOMETRIUM	100883013	100883115	100883112	100883112	Missense_Mutation	T	C	p.V3856A
HEC251_ENDOMETRIUM	100883013	100883925	100883788	100883788	Missense_Mutation	C	T	p.L3895F
SNU175_LARGE_INTESTINE	100883013	100883925	100883788	100883788	Missense_Mutation	C	A	p.L3895I
TEN_ENDOMETRIUM	100883013	100883925	100883803	100883803	Missense_Mutation	G	A	p.V3900I
IOMMLEE_CENTRAL_NERVOUS_SYSTEM	100883013	100883925	100883803	100883803	Missense_Mutation	G	A	p.V3900I
RERFLCSQ1_LUNG	100883013	100883925	100883897	100883897	Missense_Mutation	A	C	p.K3931T
NCIH1339_LUNG	100168777	100168971	100168844	100168844	Nonsense_Mutation	T	A	p.L694*
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100519998	100520139	100520086	100520086	Nonsense_Mutation	C	T	p.R1416*
BT20_BREAST	100654039	100654726	100654663	100654663	Nonsense_Mutation	C	T	p.R1974*
CW2_LARGE_INTESTINE	100831640	100831810	100831695	100831695	Nonsense_Mutation	C	T	p.Q2918*
NCIH345_LUNG	100168777	100168971	100168971	100168971	Splice_Site	G	T	p.K736N
SISO_CERVIX	100844597	100844880	100844879	100844879	Splice_Site	A	G	p.R3230G
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100844597	100844880	100844879	100844879	Splice_Site	A	G	p.R3230G
HUH7_LIVER	100880517	100880693	100880692	100880692	Splice_Site	T	C	p.Y3822Y
SNU216_STOMACH	100883013	100883925	100883013	100883013	Splice_Site	G	C	p.G3823A
SNU216_STOMACH	100883013	100883115	100883013	100883013	Splice_Site	G	C	p.G3823A

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VPS13B

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 VPS13B

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VPS13B

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RelatedDrugs for VPS13B

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 VPS13B

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
VPS13B	C0265223	Cohen syndrome	6	CTD_human;ORPHANET;UNIPROT

	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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