ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for VEZT

Gene summary

Gene information	Gene symbol	VEZT
	Gene ID	55591
	Gene name	vezatin, adherens junctions transmembrane protein
	Synonyms	VEZATIN
	Cytomap	12q22
	Type of gene	protein-coding
	Description	vezatin
	Modification date	20180519
	UniProtAcc	Q9HBM0
	Context	PubMed: VEZT [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 VEZT 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 VEZT

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 VEZT

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_85837	12	95611617:95611662:95617955:95618012:95645715:95645847	95617955:95618012	ENSG00000028203.13	ENST00000548822.1,ENST00000551472.1
exon_skip_85838	12	95611617:95611662:95635939:95636040:95637716:95637785	95635939:95636040	ENSG00000028203.13	ENST00000552031.1
exon_skip_85839	12	95611617:95611662:95635939:95636040:95645715:95645847	95635939:95636040	ENSG00000028203.13	ENST00000552626.1,ENST00000551746.1
exon_skip_85842	12	95611617:95611662:95637716:95637785:95645715:95645847	95637716:95637785	ENSG00000028203.13	ENST00000551039.1
exon_skip_85859	12	95635939:95636040:95637716:95637785:95645715:95645847	95637716:95637785	ENSG00000028203.13	ENST00000550106.1,ENST00000552031.1
exon_skip_85861	12	95645742:95645847:95650325:95650398:95650925:95650957	95650325:95650398	ENSG00000028203.13	ENST00000549589.1,ENST00000552626.1,ENST00000356859.4,ENST00000397792.4,ENST00000550803.1,ENST00000261219.6,ENST00000548455.1,ENST00000550106.1,ENST00000548822.1,ENST00000549192.1,ENST00000552031.1,ENST00000547484.1,ENST00000551311.1,ENST00000547997.1,ENS
exon_skip_85862	12	95645742:95645847:95650325:95650398:95650929:95651015	95650325:95650398	ENSG00000028203.13	ENST00000549624.1
exon_skip_85864	12	95645742:95645847:95650325:95650398:95656681:95656835	95650325:95650398	ENSG00000028203.13	ENST00000546445.1,ENST00000546557.1
exon_skip_85866	12	95645742:95645847:95650325:95650398:95660132:95660160	95650325:95650398	ENSG00000028203.13	ENST00000551902.1
exon_skip_85871	12	95645742:95645847:95650925:95651015:95652020:95652058	95650925:95651015	ENSG00000028203.13	ENST00000548245.1,ENST00000553063.1
exon_skip_85872	12	95645742:95645847:95650925:95651015:95656681:95656835	95650925:95651015	ENSG00000028203.13	ENST00000546409.1,ENST00000546398.1,ENST00000547894.1,ENST00000551472.1,ENST00000551746.1,ENST00000551039.1,ENST00000552821.1,ENST00000546365.1,ENST00000436874.1
exon_skip_85878	12	95645742:95645847:95650929:95651015:95656681:95656835	95650929:95651015	ENSG00000028203.13	ENST00000551994.1
exon_skip_85883	12	95645742:95645847:95656681:95656857:95660132:95660160	95656681:95656857	ENSG00000028203.13	ENST00000549002.1,ENST00000551356.1
exon_skip_85885	12	95650325:95650398:95650925:95651015:95652020:95652058	95650925:95651015	ENSG00000028203.13	ENST00000550803.1,ENST00000547484.1
exon_skip_85886	12	95650325:95650398:95650925:95651015:95656681:95656835	95650925:95651015	ENSG00000028203.13	ENST00000552626.1,ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000548455.1,ENST00000550106.1,ENST00000548822.1,ENST00000549192.1,ENST00000551311.1,ENST00000547997.1,ENST00000552660.1
exon_skip_85892	12	95650325:95650398:95650929:95651015:95656681:95656835	95650929:95651015	ENSG00000028203.13	ENST00000549624.1
exon_skip_85897	12	95650325:95650398:95656681:95656857:95660132:95660160	95656681:95656857	ENSG00000028203.13	ENST00000546445.1,ENST00000546557.1
exon_skip_85899	12	95650929:95651015:95652020:95652058:95656681:95656835	95652020:95652058	ENSG00000028203.13	ENST00000553063.1
exon_skip_85901	12	95650929:95651015:95652020:95652063:95656681:95656835	95652020:95652063	ENSG00000028203.13	ENST00000548245.1,ENST00000550803.1
exon_skip_85902	12	95650929:95651015:95656681:95656857:95660132:95660160	95656681:95656857	ENSG00000028203.13	ENST00000552626.1,ENST00000356859.4,ENST00000397792.4,ENST00000546409.1,ENST00000261219.6,ENST00000546398.1,ENST00000550106.1,ENST00000551472.1,ENST00000549192.1,ENST00000551746.1,ENST00000551039.1,ENST00000552821.1,ENST00000551994.1,ENST00000546365.1,ENS
exon_skip_85904	12	95656681:95656857:95657521:95657573:95660132:95660160	95657521:95657573	ENSG00000028203.13	ENST00000548455.1
exon_skip_85913	12	95668521:95668665:95676088:95676135:95681439:95681495	95676088:95676135	ENSG00000028203.13	ENST00000548371.1,ENST00000548838.1
exon_skip_85915	12	95668521:95668665:95676088:95676420:95681439:95681495	95676088:95676420	ENSG00000028203.13	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000546398.1,ENST00000550106.1,ENST00000549192.1,ENST00000547611.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENSG00000028203.13	ENST00000548838.1
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENSG00000028203.13	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1
exon_skip_85918	12	95681439:95681633:95688047:95688148:95689826:95690034	95688047:95688148	ENSG00000028203.13	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000548838.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1
exon_skip_85919	12	95689905:95690034:95692637:95692719:95693940:95694338	95692637:95692719	ENSG00000028203.13	ENST00000552306.1,ENST00000550106.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for VEZT

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_85837	12	95611617:95611662:95617955:95618012:95645715:95645847	95617955:95618012	ENSG00000028203.13	ENST00000551472.1,ENST00000548822.1
exon_skip_85838	12	95611617:95611662:95635939:95636040:95637716:95637785	95635939:95636040	ENSG00000028203.13	ENST00000552031.1
exon_skip_85839	12	95611617:95611662:95635939:95636040:95645715:95645847	95635939:95636040	ENSG00000028203.13	ENST00000551746.1,ENST00000552626.1
exon_skip_85842	12	95611617:95611662:95637716:95637785:95645715:95645847	95637716:95637785	ENSG00000028203.13	ENST00000551039.1
exon_skip_85859	12	95635939:95636040:95637716:95637785:95645715:95645847	95637716:95637785	ENSG00000028203.13	ENST00000552031.1,ENST00000550106.1
exon_skip_85861	12	95645742:95645847:95650325:95650398:95650925:95650957	95650325:95650398	ENSG00000028203.13	ENST00000549589.1,ENST00000550803.1,ENST00000547997.1,ENST00000547484.1,ENST00000261219.6,ENST00000548455.1,ENST00000552031.1,ENST00000548822.1,ENST00000552626.1,ENST00000552660.1,ENST00000549192.1,ENST00000550106.1,ENST00000551311.1,ENST00000397792.4,ENS
exon_skip_85862	12	95645742:95645847:95650325:95650398:95650929:95651015	95650325:95650398	ENSG00000028203.13	ENST00000549624.1
exon_skip_85864	12	95645742:95645847:95650325:95650398:95656681:95656835	95650325:95650398	ENSG00000028203.13	ENST00000546557.1,ENST00000546445.1
exon_skip_85866	12	95645742:95645847:95650325:95650398:95660132:95660160	95650325:95650398	ENSG00000028203.13	ENST00000551902.1
exon_skip_85871	12	95645742:95645847:95650925:95651015:95652020:95652058	95650925:95651015	ENSG00000028203.13	ENST00000553063.1,ENST00000548245.1
exon_skip_85872	12	95645742:95645847:95650925:95651015:95656681:95656835	95650925:95651015	ENSG00000028203.13	ENST00000436874.1,ENST00000551746.1,ENST00000551472.1,ENST00000546398.1,ENST00000551039.1,ENST00000552821.1,ENST00000547894.1,ENST00000546365.1,ENST00000546409.1
exon_skip_85878	12	95645742:95645847:95650929:95651015:95656681:95656835	95650929:95651015	ENSG00000028203.13	ENST00000551994.1
exon_skip_85883	12	95645742:95645847:95656681:95656857:95660132:95660160	95656681:95656857	ENSG00000028203.13	ENST00000549002.1,ENST00000551356.1
exon_skip_85885	12	95650325:95650398:95650925:95651015:95652020:95652058	95650925:95651015	ENSG00000028203.13	ENST00000550803.1,ENST00000547484.1
exon_skip_85886	12	95650325:95650398:95650925:95651015:95656681:95656835	95650925:95651015	ENSG00000028203.13	ENST00000547997.1,ENST00000261219.6,ENST00000548455.1,ENST00000548822.1,ENST00000552626.1,ENST00000552660.1,ENST00000549192.1,ENST00000550106.1,ENST00000551311.1,ENST00000397792.4,ENST00000356859.4
exon_skip_85892	12	95650325:95650398:95650929:95651015:95656681:95656835	95650929:95651015	ENSG00000028203.13	ENST00000549624.1
exon_skip_85897	12	95650325:95650398:95656681:95656857:95660132:95660160	95656681:95656857	ENSG00000028203.13	ENST00000546557.1,ENST00000546445.1
exon_skip_85899	12	95650929:95651015:95652020:95652058:95656681:95656835	95652020:95652058	ENSG00000028203.13	ENST00000553063.1
exon_skip_85900	12	95650929:95651015:95652020:95652063:95656079:95656188	95652020:95652063	ENSG00000028203.13	ENST00000547484.1
exon_skip_85901	12	95650929:95651015:95652020:95652063:95656681:95656835	95652020:95652063	ENSG00000028203.13	ENST00000550803.1,ENST00000548245.1
exon_skip_85902	12	95650929:95651015:95656681:95656857:95660132:95660160	95656681:95656857	ENSG00000028203.13	ENST00000436874.1,ENST00000547997.1,ENST00000551746.1,ENST00000261219.6,ENST00000551472.1,ENST00000546398.1,ENST00000552626.1,ENST00000552660.1,ENST00000551039.1,ENST00000551994.1,ENST00000549192.1,ENST00000552821.1,ENST00000550106.1,ENST00000546365.1,ENS
exon_skip_85904	12	95656681:95656857:95657521:95657573:95660132:95660160	95657521:95657573	ENSG00000028203.13	ENST00000548455.1
exon_skip_85913	12	95668521:95668665:95676088:95676135:95681439:95681495	95676088:95676135	ENSG00000028203.13	ENST00000548838.1,ENST00000548371.1
exon_skip_85915	12	95668521:95668665:95676088:95676420:95681439:95681495	95676088:95676420	ENSG00000028203.13	ENST00000436874.1,ENST00000547611.1,ENST00000547997.1,ENST00000261219.6,ENST00000546398.1,ENST00000552660.1,ENST00000551994.1,ENST00000549192.1,ENST00000550106.1,ENST00000397792.4,ENST00000356859.4
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENSG00000028203.13	ENST00000548838.1
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENSG00000028203.13	ENST00000436874.1,ENST00000547997.1,ENST00000261219.6,ENST00000552660.1,ENST00000551994.1,ENST00000549192.1,ENST00000550106.1,ENST00000397792.4,ENST00000356859.4
exon_skip_85918	12	95681439:95681633:95688047:95688148:95689826:95690034	95688047:95688148	ENSG00000028203.13	ENST00000436874.1,ENST00000547997.1,ENST00000548838.1,ENST00000261219.6,ENST00000552660.1,ENST00000551994.1,ENST00000549192.1,ENST00000550106.1,ENST00000397792.4,ENST00000356859.4
exon_skip_85919	12	95689905:95690034:95692637:95692719:95693940:95694338	95692637:95692719	ENSG00000028203.13	ENST00000550106.1,ENST00000552306.1

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 VEZT

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
ENST00000436874	95656681	95656857	Frame-shift
ENST00000436874	95676088	95676420	Frame-shift
ENST00000436874	95681439	95681633	Frame-shift
ENST00000436874	95688047	95688148	Frame-shift
ENST00000436874	95650925	95651015	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
ENST00000436874	95656681	95656857	Frame-shift
ENST00000436874	95676088	95676420	Frame-shift
ENST00000436874	95681439	95681633	Frame-shift
ENST00000436874	95688047	95688148	Frame-shift
ENST00000436874	95650925	95651015	In-frame

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

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
ENST00000436874	4579	779	95650925	95651015	274	363	56	86

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
ENST00000436874	4579	779	95650925	95651015	274	363	56	86

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
Q9HBM0	56	86	57	79	Alternative sequence	ID=VSP_040853;Note=In isoform 6. QGILLKVAETIKSWIFFSQCNKK->YLGYSNHSMNINCTYWHAQGMGY;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9HBM0	56	86	57	65	Alternative sequence	ID=VSP_040854;Note=In isoform 5. QGILLKVAE->GSLSAICLH;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9HBM0	56	86	66	779	Alternative sequence	ID=VSP_040855;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9HBM0	56	86	80	779	Alternative sequence	ID=VSP_040856;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9HBM0	56	86	1	779	Chain	ID=PRO_0000065783;Note=Vezatin

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
Q9HBM0	56	86	57	79	Alternative sequence	ID=VSP_040853;Note=In isoform 6. QGILLKVAETIKSWIFFSQCNKK->YLGYSNHSMNINCTYWHAQGMGY;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9HBM0	56	86	57	65	Alternative sequence	ID=VSP_040854;Note=In isoform 5. QGILLKVAE->GSLSAICLH;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9HBM0	56	86	66	779	Alternative sequence	ID=VSP_040855;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9HBM0	56	86	80	779	Alternative sequence	ID=VSP_040856;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9HBM0	56	86	1	779	Chain	ID=PRO_0000065783;Note=Vezatin

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SNVs in the skipped exons for VEZT

- 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-F4-6570-01	exon_skip_85872 exon_skip_85871 exon_skip_85878 exon_skip_85892 exon_skip_85886 exon_skip_85885	95650926	95651015	95650969	95650969	Frame_Shift_Del	T	-	p.I71fs
COAD	TCGA-F4-6570-01	exon_skip_85872 exon_skip_85871 exon_skip_85878 exon_skip_85892 exon_skip_85886 exon_skip_85885	95650930	95651015	95650969	95650969	Frame_Shift_Del	T	-	p.I71fs
LIHC	TCGA-DD-A39Y-01	exon_skip_85872 exon_skip_85871 exon_skip_85878 exon_skip_85892 exon_skip_85886 exon_skip_85885	95650926	95651015	95650969	95650969	Frame_Shift_Del	T	-	p.I71fs
LIHC	TCGA-DD-A39Y-01	exon_skip_85872 exon_skip_85871 exon_skip_85878 exon_skip_85892 exon_skip_85886 exon_skip_85885	95650930	95651015	95650969	95650969	Frame_Shift_Del	T	-	p.I71fs
LIHC	TCGA-DD-A3A1-01	exon_skip_85902 exon_skip_85883 exon_skip_85897	95656682	95656857	95656790	95656790	Frame_Shift_Del	G	-	p.G123fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_85902 exon_skip_85883 exon_skip_85897	95656682	95656857	95656790	95656790	Frame_Shift_Del	G	-	p.G123fs
LIHC	TCGA-DD-A1EJ-01	exon_skip_85872 exon_skip_85871 exon_skip_85878 exon_skip_85892 exon_skip_85886 exon_skip_85885	95650926	95651015	95650968	95650969	Frame_Shift_Ins	-	T	p.F71fs
LIHC	TCGA-DD-A1EJ-01	exon_skip_85872 exon_skip_85871 exon_skip_85878 exon_skip_85892 exon_skip_85886 exon_skip_85885	95650930	95651015	95650968	95650969	Frame_Shift_Ins	-	T	p.F71fs

- 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
SNUC2A_LARGE_INTESTINE	95681440	95681633	95681627	95681627	Frame_Shift_Del	A	-	p.K507fs
SNUC2B_LARGE_INTESTINE	95681440	95681633	95681627	95681627	Frame_Shift_Del	A	-	p.K507fs
EBC1_LUNG	95650926	95651015	95650932	95650932	Missense_Mutation	A	G	p.I59V
EBC1_LUNG	95650930	95651015	95650932	95650932	Missense_Mutation	A	G	p.I59V
NCIH661_LUNG	95650926	95651015	95650963	95650963	Missense_Mutation	G	T	p.S69I
NCIH661_LUNG	95650930	95651015	95650963	95650963	Missense_Mutation	G	T	p.S69I
HCT15_LARGE_INTESTINE	95650926	95651015	95650964	95650964	Missense_Mutation	T	A	p.S69R
HCT15_LARGE_INTESTINE	95650930	95651015	95650964	95650964	Missense_Mutation	T	A	p.S69R
GP5D_LARGE_INTESTINE	95650926	95651015	95651011	95651011	Missense_Mutation	A	C	p.K85T
GP5D_LARGE_INTESTINE	95650930	95651015	95651011	95651011	Missense_Mutation	A	C	p.K85T
PWR1E_PROSTATE	95656682	95656857	95656700	95656700	Missense_Mutation	G	A	p.D93N
UMUC1_URINARY_TRACT	95656682	95656857	95656731	95656731	Missense_Mutation	T	C	p.V103A
SKMEL3_SKIN	95656682	95656857	95656787	95656787	Missense_Mutation	G	A	p.A122T
SW156_KIDNEY	95676089	95676420	95676155	95676155	Missense_Mutation	A	G	p.T355A
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95676089	95676420	95676194	95676194	Missense_Mutation	C	A	p.L368I
CL34_LARGE_INTESTINE	95676089	95676420	95676207	95676207	Missense_Mutation	G	A	p.R372H
MFE319_ENDOMETRIUM	95676089	95676420	95676228	95676228	Missense_Mutation	A	G	p.Q379R
CORL105_LUNG	95676089	95676420	95676243	95676243	Missense_Mutation	C	A	p.A384D
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95676089	95676420	95676270	95676270	Missense_Mutation	A	G	p.K393R
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95676089	95676420	95676354	95676354	Missense_Mutation	G	A	p.R421K
HEC151_ENDOMETRIUM	95676089	95676420	95676383	95676383	Missense_Mutation	C	T	p.R431C
NCIH187_LUNG	95681440	95681633	95681459	95681459	Missense_Mutation	G	A	p.E450K
SW48_LARGE_INTESTINE	95676089	95676420	95676392	95676392	Nonsense_Mutation	C	T	p.Q434*

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

sQTL information located at the skipped exons.

Exon skip ID	Chromosome	Three exons	Skippped exon	ENST	Cancer type	SNP id	Location	DNA change (ref/var)	P-value
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000548838.1	HNSC	rs12424550	chr12:95681554	C/T	1.01e-03
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000548838.1	BRCA	rs12424550	chr12:95681554	C/T	5.44e-10
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000548838.1	BRCA	rs12424550	chr12:95681554	C/T	9.82e-04
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000548838.1	BRCA	rs12424550	chr12:95681554	C/T	2.74e-03
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000548838.1	LUAD	rs12424550	chr12:95681554	C/T	1.67e-05
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000548838.1	LUSC	rs12424550	chr12:95681554	C/T	1.79e-04
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000548838.1	PRAD	rs12424550	chr12:95681554	C/T	2.05e-03
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000548838.1	THCA	rs12424550	chr12:95681554	C/T	2.89e-04
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000548838.1	THCA	rs12424550	chr12:95681554	C/T	2.93e-03
exon_skip_85916	12	95676088:95676135:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000548838.1	THCA	rs12424550	chr12:95681554	C/T	3.30e-03
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1	HNSC	rs12424550	chr12:95681554	C/T	1.01e-03
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1	BRCA	rs12424550	chr12:95681554	C/T	5.44e-10
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1	BRCA	rs12424550	chr12:95681554	C/T	9.82e-04
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1	BRCA	rs12424550	chr12:95681554	C/T	2.74e-03
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1	LUAD	rs12424550	chr12:95681554	C/T	1.67e-05
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1	LUSC	rs12424550	chr12:95681554	C/T	1.79e-04
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1	PRAD	rs12424550	chr12:95681554	C/T	2.05e-03
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1	THCA	rs12424550	chr12:95681554	C/T	2.89e-04
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1	THCA	rs12424550	chr12:95681554	C/T	2.93e-03
exon_skip_85917	12	95676088:95676420:95681439:95681633:95688047:95688148	95681439:95681633	ENST00000356859.4,ENST00000397792.4,ENST00000261219.6,ENST00000550106.1,ENST00000549192.1,ENST00000551994.1,ENST00000436874.1,ENST00000547997.1,ENST00000552660.1	THCA	rs12424550	chr12:95681554	C/T	3.30e-03
exon_skip_85839	12	95611617:95611662:95635939:95636040:95645715:95645847	95635939:95636040	ENST00000552626.1,ENST00000551746.1	ESCA	rs76229941	chr12:95635969	C/G	2.01e-04
exon_skip_85839	12	95611617:95611662:95635939:95636040:95645715:95645847	95635939:95636040	ENST00000552626.1,ENST00000551746.1	HNSC	rs76229941	chr12:95635969	C/G	2.02e-03
exon_skip_85839	12	95611617:95611662:95635939:95636040:95645715:95645847	95635939:95636040	ENST00000552626.1,ENST00000551746.1	BRCA	rs76229941	chr12:95635969	C/G	3.41e-11
exon_skip_85839	12	95611617:95611662:95635939:95636040:95645715:95645847	95635939:95636040	ENST00000552626.1,ENST00000551746.1	BRCA	rs76229941	chr12:95635969	C/G	4.47e-03
exon_skip_85839	12	95611617:95611662:95635939:95636040:95645715:95645847	95635939:95636040	ENST00000552626.1,ENST00000551746.1	LUAD	rs76229941	chr12:95635969	C/G	2.33e-05
exon_skip_85839	12	95611617:95611662:95635939:95636040:95645715:95645847	95635939:95636040	ENST00000552626.1,ENST00000551746.1	LUSC	rs76229941	chr12:95635969	C/G	4.55e-05
exon_skip_85839	12	95611617:95611662:95635939:95636040:95645715:95645847	95635939:95636040	ENST00000552626.1,ENST00000551746.1	PAAD	rs76229941	chr12:95635969	C/G	1.21e-03
exon_skip_85839	12	95611617:95611662:95635939:95636040:95645715:95645847	95635939:95636040	ENST00000552626.1,ENST00000551746.1	THCA	rs76229941	chr12:95635969	C/G	1.98e-04
exon_skip_85839	12	95611617:95611662:95635939:95636040:95645715:95645847	95635939:95636040	ENST00000552626.1,ENST00000551746.1	THCA	rs76229941	chr12:95635969	C/G	2.13e-03
exon_skip_85838	12	95611617:95611662:95635939:95636040:95637716:95637785	95635939:95636040	ENST00000552031.1	ESCA	rs76229941	chr12:95635969	C/G	2.01e-04
exon_skip_85838	12	95611617:95611662:95635939:95636040:95637716:95637785	95635939:95636040	ENST00000552031.1	HNSC	rs76229941	chr12:95635969	C/G	2.02e-03
exon_skip_85838	12	95611617:95611662:95635939:95636040:95637716:95637785	95635939:95636040	ENST00000552031.1	BRCA	rs76229941	chr12:95635969	C/G	3.41e-11
exon_skip_85838	12	95611617:95611662:95635939:95636040:95637716:95637785	95635939:95636040	ENST00000552031.1	BRCA	rs76229941	chr12:95635969	C/G	4.47e-03
exon_skip_85838	12	95611617:95611662:95635939:95636040:95637716:95637785	95635939:95636040	ENST00000552031.1	LUAD	rs76229941	chr12:95635969	C/G	2.33e-05
exon_skip_85838	12	95611617:95611662:95635939:95636040:95637716:95637785	95635939:95636040	ENST00000552031.1	LUSC	rs76229941	chr12:95635969	C/G	4.55e-05
exon_skip_85838	12	95611617:95611662:95635939:95636040:95637716:95637785	95635939:95636040	ENST00000552031.1	PAAD	rs76229941	chr12:95635969	C/G	1.21e-03
exon_skip_85838	12	95611617:95611662:95635939:95636040:95637716:95637785	95635939:95636040	ENST00000552031.1	THCA	rs76229941	chr12:95635969	C/G	1.98e-04
exon_skip_85838	12	95611617:95611662:95635939:95636040:95637716:95637785	95635939:95636040	ENST00000552031.1	THCA	rs76229941	chr12:95635969	C/G	2.13e-03

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

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

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RelatedDrugs for VEZT

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 VEZT

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 VEZT

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

Gene isoform structures and expression levels for VEZT

Exon skipping events with PSIs in TCGA for VEZT

Exon skipping events with PSIs in GTEx for VEZT

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

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

SNVs in the skipped exons for VEZT

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

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

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

RelatedDrugs for VEZT

RelatedDiseases for VEZT