ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DLG1

Gene summary

Gene information	Gene symbol	DLG1
	Gene ID	1739
	Gene name	discs large MAGUK scaffold protein 1
	Synonyms	DLGH1\|SAP-97\|SAP97\|dJ1061C18.1.1\|hdlg
	Cytomap	3q29
	Type of gene	protein-coding
	Description	disks large homolog 1discs large homolog 1, scribble cell polarity complex componentdiscs, large homolog 1 transcript variant 6-v1discs, large homolog 1 transcript variant 6-v2presynaptic protein SAP97synapse-associated protein 97
	Modification date	20180523
	UniProtAcc	Q12959
	Context	PubMed: DLG1 [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
DLG1	GO:0001935	endothelial cell proliferation	14699157
DLG1	GO:0007015	actin filament organization	14699157
DLG1	GO:0030866	cortical actin cytoskeleton organization	14699157
DLG1	GO:0042391	regulation of membrane potential	12970345
DLG1	GO:0043268	positive regulation of potassium ion transport	12970345
DLG1	GO:0070830	bicellular tight junction assembly	17332497
DLG1	GO:0098609	cell-cell adhesion	14699157
DLG1	GO:1903078	positive regulation of protein localization to plasma membrane	12970345

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Exon skipping events across known transcript of Ensembl for DLG1 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 DLG1

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 DLG1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_420803	3	196771493:196771600:196778447:196778539:196786759:196786869	196778447:196778539	ENSG00000075711.16	ENST00000448528.2,ENST00000452595.1,ENST00000419354.1,ENST00000314062.3,ENST00000443183.1,ENST00000392382.2,ENST00000450955.1,ENST00000422288.1,ENST00000346964.2,ENST00000469371.1,ENST00000357674.4
exon_skip_420804	3	196778447:196778539:196786759:196786869:196792146:196792309	196786759:196786869	ENSG00000075711.16	ENST00000448528.2,ENST00000452595.1,ENST00000475394.1,ENST00000419354.1,ENST00000314062.3,ENST00000443183.1,ENST00000392382.2,ENST00000450955.1,ENST00000422288.1,ENST00000346964.2,ENST00000469371.1,ENST00000357674.4
exon_skip_420806	3	196793574:196793625:196795372:196795408:196796089:196796131	196795372:196795408	ENSG00000075711.16	ENST00000443183.1,ENST00000469371.1
exon_skip_420807	3	196793574:196793625:196796089:196796131:196802707:196802741	196796089:196796131	ENSG00000075711.16	ENST00000448528.2,ENST00000452595.1,ENST00000475394.1,ENST00000419354.1,ENST00000314062.3,ENST00000392382.2,ENST00000422288.1
exon_skip_420809	3	196793574:196793625:196796089:196796131:196803456:196803553	196796089:196796131	ENSG00000075711.16	ENST00000450955.1,ENST00000346964.2,ENST00000357674.4
exon_skip_420819	3	196796089:196796131:196802707:196802741:196803456:196803553	196802707:196802741	ENSG00000075711.16	ENST00000419227.1
exon_skip_420820	3	196796089:196796131:196802707:196802741:196807921:196807988	196802707:196802741	ENSG00000075711.16	ENST00000448528.2,ENST00000452595.1,ENST00000419354.1,ENST00000314062.3,ENST00000443183.1,ENST00000392382.2,ENST00000422288.1
exon_skip_420831	3	196796089:196796131:196803456:196803556:196807921:196807988	196803456:196803556	ENSG00000075711.16	ENST00000450955.1,ENST00000346964.2,ENST00000357674.4
exon_skip_420841	3	196803456:196803556:196807921:196807988:196812450:196812529	196807921:196807988	ENSG00000075711.16	ENST00000450955.1,ENST00000346964.2,ENST00000357674.4
exon_skip_420842	3	196807921:196807988:196812166:196812627:196817782:196817897	196812166:196812627	ENSG00000075711.16	ENST00000392381.3
exon_skip_420844	3	196807921:196807988:196812450:196812627:196817782:196817897	196812450:196812627	ENSG00000075711.16	ENST00000448528.2,ENST00000452595.1,ENST00000419354.1,ENST00000314062.3,ENST00000443183.1,ENST00000392382.2,ENST00000450955.1,ENST00000422288.1,ENST00000471733.1,ENST00000346964.2,ENST00000357674.4
exon_skip_420847	3	196812450:196812627:196817782:196817897:196831773:196831876	196817782:196817897	ENSG00000075711.16	ENST00000448528.2,ENST00000452595.1,ENST00000419354.1,ENST00000314062.3,ENST00000443183.1,ENST00000392382.2,ENST00000450955.1,ENST00000392381.3,ENST00000422288.1,ENST00000471733.1,ENST00000346964.2,ENST00000357674.4
exon_skip_420848	3	196817782:196817897:196831773:196831876:196842797:196842954	196831773:196831876	ENSG00000075711.16	ENST00000448528.2,ENST00000452595.1,ENST00000419354.1,ENST00000314062.3,ENST00000443183.1,ENST00000392382.2,ENST00000450955.1,ENST00000392381.3,ENST00000422288.1,ENST00000471733.1,ENST00000346964.2,ENST00000357674.4
exon_skip_420855	3	196842908:196842954:196846280:196846401:196857397:196857542	196846280:196846401	ENSG00000075711.16	ENST00000448528.2,ENST00000452595.1,ENST00000419354.1,ENST00000314062.3,ENST00000443183.1,ENST00000392382.2,ENST00000450955.1,ENST00000392381.3,ENST00000447466.1,ENST00000422288.1,ENST00000471733.1,ENST00000346964.2,ENST00000357674.4
exon_skip_420857	3	196846280:196846401:196857397:196857542:196863412:196863549	196857397:196857542	ENSG00000075711.16	ENST00000448528.2,ENST00000452595.1,ENST00000419354.1,ENST00000314062.3,ENST00000443183.1,ENST00000392382.2,ENST00000450955.1,ENST00000392381.3,ENST00000447466.1,ENST00000422288.1,ENST00000471733.1,ENST00000346964.2,ENST00000357674.4
exon_skip_420860	3	196867015:196867135:196869588:196869639:196876613:196876667	196869588:196869639	ENSG00000075711.16	ENST00000448528.2,ENST00000452595.1,ENST00000419354.1,ENST00000443183.1,ENST00000392382.2,ENST00000450955.1,ENST00000392381.3,ENST00000471733.1,ENST00000346964.2,ENST00000357674.4
exon_skip_420863	3	196869588:196869639:196876613:196876667:196888510:196888609	196876613:196876667	ENSG00000075711.16	ENST00000448528.2,ENST00000419354.1,ENST00000392381.3,ENST00000346964.2
exon_skip_420864	3	196869588:196869639:196876613:196876667:196910445:196910505	196876613:196876667	ENSG00000075711.16	ENST00000452595.1,ENST00000443183.1
exon_skip_420865	3	196869588:196869639:196876613:196876667:196921295:196921460	196876613:196876667	ENSG00000075711.16	ENST00000392382.2,ENST00000450955.1,ENST00000471733.1,ENST00000357674.4
exon_skip_420870	3	196869588:196869639:196921295:196921460:197009549:197009716	196921295:196921460	ENSG00000075711.16	ENST00000419227.1,ENST00000314062.3,ENST00000422288.1
exon_skip_420872	3	196876625:196876667:196888510:196888609:196921295:196921460	196888510:196888609	ENSG00000075711.16	ENST00000448528.2,ENST00000419354.1,ENST00000392380.2,ENST00000392381.3,ENST00000346964.2
exon_skip_420875	3	196876625:196876667:196921295:196921460:197009549:197009716	196921295:196921460	ENSG00000075711.16	ENST00000392382.2,ENST00000450955.1,ENST00000456699.2,ENST00000471733.1,ENST00000357674.4
exon_skip_420877	3	196888510:196888609:196921295:196921460:197009549:197009716	196921295:196921460	ENSG00000075711.16	ENST00000448528.2,ENST00000419354.1,ENST00000392380.2,ENST00000392381.3,ENST00000346964.2
exon_skip_420880	3	197009549:197009716:197023216:197023348:197024056:197024075	197023216:197023348	ENSG00000075711.16	ENST00000448528.2,ENST00000419553.1,ENST00000419227.1,ENST00000412364.2,ENST00000486877.1,ENST00000419354.1,ENST00000314062.3,ENST00000392382.2,ENST00000450955.1,ENST00000392380.2,ENST00000456699.2,ENST00000392381.3,ENST00000422288.1,ENST00000471733.1,ENS

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DLG1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_420803	3	196771493:196771600:196778447:196778539:196786759:196786869	196778447:196778539	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000314062.3,ENST00000469371.1,ENST00000419354.1,ENST00000452595.1,ENST00000422288.1,ENST00000448528.2,ENST00000443183.1,ENST00000450955.1,ENST00000392382.2
exon_skip_420804	3	196778447:196778539:196786759:196786869:196792146:196792309	196786759:196786869	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000314062.3,ENST00000469371.1,ENST00000419354.1,ENST00000452595.1,ENST00000422288.1,ENST00000448528.2,ENST00000443183.1,ENST00000450955.1,ENST00000392382.2,ENST00000475394.1
exon_skip_420806	3	196793574:196793625:196795372:196795408:196796089:196796131	196795372:196795408	ENSG00000075711.16	ENST00000469371.1,ENST00000443183.1
exon_skip_420807	3	196793574:196793625:196796089:196796131:196802707:196802741	196796089:196796131	ENSG00000075711.16	ENST00000314062.3,ENST00000419354.1,ENST00000452595.1,ENST00000422288.1,ENST00000448528.2,ENST00000392382.2,ENST00000475394.1
exon_skip_420809	3	196793574:196793625:196796089:196796131:196803456:196803553	196796089:196796131	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000450955.1
exon_skip_420819	3	196796089:196796131:196802707:196802741:196803456:196803553	196802707:196802741	ENSG00000075711.16	ENST00000419227.1
exon_skip_420820	3	196796089:196796131:196802707:196802741:196807921:196807988	196802707:196802741	ENSG00000075711.16	ENST00000314062.3,ENST00000419354.1,ENST00000452595.1,ENST00000422288.1,ENST00000448528.2,ENST00000443183.1,ENST00000392382.2
exon_skip_420831	3	196796089:196796131:196803456:196803556:196807921:196807988	196803456:196803556	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000450955.1
exon_skip_420841	3	196803456:196803556:196807921:196807988:196812450:196812529	196807921:196807988	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000450955.1
exon_skip_420842	3	196807921:196807988:196812166:196812627:196817782:196817897	196812166:196812627	ENSG00000075711.16	ENST00000392381.3
exon_skip_420844	3	196807921:196807988:196812450:196812627:196817782:196817897	196812450:196812627	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000314062.3,ENST00000419354.1,ENST00000452595.1,ENST00000422288.1,ENST00000448528.2,ENST00000443183.1,ENST00000450955.1,ENST00000392382.2,ENST00000471733.1
exon_skip_420847	3	196812450:196812627:196817782:196817897:196831773:196831876	196817782:196817897	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000314062.3,ENST00000419354.1,ENST00000452595.1,ENST00000422288.1,ENST00000448528.2,ENST00000443183.1,ENST00000450955.1,ENST00000392382.2,ENST00000392381.3,ENST00000471733.1
exon_skip_420848	3	196817782:196817897:196831773:196831876:196842797:196842954	196831773:196831876	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000314062.3,ENST00000419354.1,ENST00000452595.1,ENST00000422288.1,ENST00000448528.2,ENST00000443183.1,ENST00000450955.1,ENST00000392382.2,ENST00000392381.3,ENST00000471733.1
exon_skip_420855	3	196842908:196842954:196846280:196846401:196857397:196857542	196846280:196846401	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000314062.3,ENST00000419354.1,ENST00000452595.1,ENST00000422288.1,ENST00000448528.2,ENST00000443183.1,ENST00000450955.1,ENST00000392382.2,ENST00000392381.3,ENST00000471733.1,ENST00000447466.1
exon_skip_420857	3	196846280:196846401:196857397:196857542:196863412:196863549	196857397:196857542	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000314062.3,ENST00000419354.1,ENST00000452595.1,ENST00000422288.1,ENST00000448528.2,ENST00000443183.1,ENST00000450955.1,ENST00000392382.2,ENST00000392381.3,ENST00000471733.1,ENST00000447466.1
exon_skip_420860	3	196867015:196867135:196869588:196869639:196876613:196876667	196869588:196869639	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000419354.1,ENST00000452595.1,ENST00000448528.2,ENST00000443183.1,ENST00000450955.1,ENST00000392382.2,ENST00000392381.3,ENST00000471733.1
exon_skip_420863	3	196869588:196869639:196876613:196876667:196888510:196888609	196876613:196876667	ENSG00000075711.16	ENST00000346964.2,ENST00000419354.1,ENST00000448528.2,ENST00000392381.3
exon_skip_420864	3	196869588:196869639:196876613:196876667:196910445:196910505	196876613:196876667	ENSG00000075711.16	ENST00000452595.1,ENST00000443183.1
exon_skip_420865	3	196869588:196869639:196876613:196876667:196921295:196921460	196876613:196876667	ENSG00000075711.16	ENST00000357674.4,ENST00000450955.1,ENST00000392382.2,ENST00000471733.1
exon_skip_420870	3	196869588:196869639:196921295:196921460:197009549:197009716	196921295:196921460	ENSG00000075711.16	ENST00000314062.3,ENST00000422288.1,ENST00000419227.1
exon_skip_420872	3	196876625:196876667:196888510:196888609:196921295:196921460	196888510:196888609	ENSG00000075711.16	ENST00000346964.2,ENST00000419354.1,ENST00000448528.2,ENST00000392381.3,ENST00000392380.2
exon_skip_420875	3	196876625:196876667:196921295:196921460:197009549:197009716	196921295:196921460	ENSG00000075711.16	ENST00000357674.4,ENST00000450955.1,ENST00000392382.2,ENST00000471733.1,ENST00000456699.2
exon_skip_420877	3	196888510:196888609:196921295:196921460:197009549:197009716	196921295:196921460	ENSG00000075711.16	ENST00000346964.2,ENST00000419354.1,ENST00000448528.2,ENST00000392381.3,ENST00000392380.2
exon_skip_420880	3	197009549:197009716:197023216:197023348:197024056:197024075	197023216:197023348	ENSG00000075711.16	ENST00000346964.2,ENST00000357674.4,ENST00000314062.3,ENST00000419354.1,ENST00000422288.1,ENST00000448528.2,ENST00000450955.1,ENST00000392382.2,ENST00000419227.1,ENST00000392381.3,ENST00000471733.1,ENST00000456699.2,ENST00000392380.2,ENST00000419553.1,ENS

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 DLG1

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
ENST00000419354	196778447	196778539	Frame-shift
ENST00000448528	196778447	196778539	Frame-shift
ENST00000419354	196786759	196786869	Frame-shift
ENST00000448528	196786759	196786869	Frame-shift
ENST00000419354	196802707	196802741	Frame-shift
ENST00000448528	196802707	196802741	Frame-shift
ENST00000419354	196817782	196817897	Frame-shift
ENST00000448528	196817782	196817897	Frame-shift
ENST00000419354	196831773	196831876	Frame-shift
ENST00000448528	196831773	196831876	Frame-shift
ENST00000419354	196846280	196846401	Frame-shift
ENST00000448528	196846280	196846401	Frame-shift
ENST00000419354	196857397	196857542	Frame-shift
ENST00000448528	196857397	196857542	Frame-shift
ENST00000419354	196796089	196796131	In-frame
ENST00000448528	196796089	196796131	In-frame
ENST00000419354	196812450	196812627	In-frame
ENST00000448528	196812450	196812627	In-frame
ENST00000419354	196869588	196869639	In-frame
ENST00000448528	196869588	196869639	In-frame
ENST00000419354	196876613	196876667	In-frame
ENST00000448528	196876613	196876667	In-frame
ENST00000419354	196888510	196888609	In-frame
ENST00000448528	196888510	196888609	In-frame
ENST00000419354	196921295	196921460	In-frame
ENST00000448528	196921295	196921460	In-frame
ENST00000419354	197023216	197023348	In-frame
ENST00000448528	197023216	197023348	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
ENST00000419354	196778447	196778539	Frame-shift
ENST00000448528	196778447	196778539	Frame-shift
ENST00000419354	196786759	196786869	Frame-shift
ENST00000448528	196786759	196786869	Frame-shift
ENST00000419354	196802707	196802741	Frame-shift
ENST00000448528	196802707	196802741	Frame-shift
ENST00000419354	196817782	196817897	Frame-shift
ENST00000448528	196817782	196817897	Frame-shift
ENST00000419354	196831773	196831876	Frame-shift
ENST00000448528	196831773	196831876	Frame-shift
ENST00000419354	196846280	196846401	Frame-shift
ENST00000448528	196846280	196846401	Frame-shift
ENST00000419354	196857397	196857542	Frame-shift
ENST00000448528	196857397	196857542	Frame-shift
ENST00000419354	196796089	196796131	In-frame
ENST00000448528	196796089	196796131	In-frame
ENST00000419354	196812450	196812627	In-frame
ENST00000448528	196812450	196812627	In-frame
ENST00000419354	196869588	196869639	In-frame
ENST00000448528	196869588	196869639	In-frame
ENST00000419354	196876613	196876667	In-frame
ENST00000448528	196876613	196876667	In-frame
ENST00000419354	196888510	196888609	In-frame
ENST00000448528	196888510	196888609	In-frame
ENST00000419354	196921295	196921460	In-frame
ENST00000448528	196921295	196921460	In-frame
ENST00000419354	197023216	197023348	In-frame
ENST00000448528	197023216	197023348	In-frame

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Infer the effects of exon skipping event on protein functional features for DLG1

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
ENST00000419354	4011	904	197023216	197023348	307	438	6	50
ENST00000448528	2994	904	197023216	197023348	210	341	6	50
ENST00000419354	4011	904	196921295	196921460	606	770	106	161
ENST00000448528	2994	904	196921295	196921460	509	673	106	161
ENST00000419354	4011	904	196888510	196888609	771	869	161	194
ENST00000448528	2994	904	196888510	196888609	674	772	161	194
ENST00000419354	4011	904	196876613	196876667	870	923	194	212
ENST00000448528	2994	904	196876613	196876667	773	826	194	212
ENST00000419354	4011	904	196869588	196869639	924	974	212	229
ENST00000448528	2994	904	196869588	196869639	827	877	212	229
ENST00000419354	4011	904	196812450	196812627	2048	2224	587	645
ENST00000448528	2994	904	196812450	196812627	1951	2127	587	645
ENST00000419354	4011	904	196796089	196796131	2326	2367	679	693
ENST00000448528	2994	904	196796089	196796131	2229	2270	679	693

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
ENST00000419354	4011	904	197023216	197023348	307	438	6	50
ENST00000448528	2994	904	197023216	197023348	210	341	6	50
ENST00000419354	4011	904	196921295	196921460	606	770	106	161
ENST00000448528	2994	904	196921295	196921460	509	673	106	161
ENST00000419354	4011	904	196888510	196888609	771	869	161	194
ENST00000448528	2994	904	196888510	196888609	674	772	161	194
ENST00000419354	4011	904	196876613	196876667	870	923	194	212
ENST00000448528	2994	904	196876613	196876667	773	826	194	212
ENST00000419354	4011	904	196869588	196869639	924	974	212	229
ENST00000448528	2994	904	196869588	196869639	827	877	212	229
ENST00000419354	4011	904	196812450	196812627	2048	2224	587	645
ENST00000448528	2994	904	196812450	196812627	1951	2127	587	645
ENST00000419354	4011	904	196796089	196796131	2326	2367	679	693
ENST00000448528	2994	904	196796089	196796131	2229	2270	679	693

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 DLG1

- 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-A1EG-01	exon_skip_420803	196778448	196778539	196778499	196778499	Frame_Shift_Del	T	-	p.T875fs
LIHC	TCGA-DD-A3A0-01	exon_skip_420804	196786760	196786869	196786777	196786777	Frame_Shift_Del	T	-	p.K855fs
LIHC	TCGA-DD-A3A0-01	exon_skip_420804	196786760	196786869	196786838	196786838	Frame_Shift_Del	T	-	p.N835fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_420831	196803457	196803556	196803520	196803520	Frame_Shift_Del	A	-	p.S681fs
LIHC	TCGA-DD-A39Y-01	exon_skip_420841	196807922	196807988	196807936	196807936	Frame_Shift_Del	T	-	p.T664fs
LIHC	TCGA-DD-A3A0-01	exon_skip_420841	196807922	196807988	196807957	196807957	Frame_Shift_Del	T	-	p.T657fs
LIHC	TCGA-DD-A3A0-01	exon_skip_420848	196831774	196831876	196831818	196831818	Frame_Shift_Del	T	-	p.N534fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_420848	196831774	196831876	196831818	196831818	Frame_Shift_Del	T	-	p.N534fs
STAD	TCGA-CG-5726-01	exon_skip_420857	196857398	196857542	196857450	196857450	Frame_Shift_Del	T	-	p.K404fs
STAD	TCGA-CG-5726-01	exon_skip_420857	196857398	196857542	196857450	196857450	Frame_Shift_Del	T	-	p.P405fs
STAD	TCGA-BR-6452-01	exon_skip_420865 exon_skip_420864 exon_skip_420863	196876614	196876667	196876654	196876654	Frame_Shift_Del	G	-	p.P199fs
COAD	TCGA-AU-6004-01	exon_skip_420841	196807922	196807988	196807972	196807972	Nonsense_Mutation	G	A	p.R619X
BRCA	TCGA-A2-A0CX-01	exon_skip_420855	196846281	196846401	196846393	196846393	Nonsense_Mutation	G	A	p.Q425*
UCEC	TCGA-BS-A0UV-01	exon_skip_420860	196869589	196869639	196869606	196869606	Nonsense_Mutation	C	A	p.E224*
PAAD	TCGA-IB-7651-01	exon_skip_420870 exon_skip_420877 exon_skip_420875	196921296	196921460	196921409	196921409	Nonsense_Mutation	G	A	p.Q124*
PAAD	TCGA-IB-7651-01	exon_skip_420870 exon_skip_420877 exon_skip_420875	196921296	196921460	196921409	196921409	Nonsense_Mutation	G	A	p.Q124X
BRCA	TCGA-AR-A0TX-01	exon_skip_420880	197023217	197023348	197023229	197023229	Nonsense_Mutation	G	A	p.Q47*
BLCA	TCGA-DK-AA74-01	exon_skip_420880	197023217	197023348	197023309	197023309	Nonsense_Mutation	G	C	p.S20*
STAD	TCGA-BR-8368-01	exon_skip_420857	196857398	196857542	196857544	196857545	Splice_Site	-	A	.
STAD	TCGA-BR-8368-01	exon_skip_420857	196857398	196857542	196857544	196857545	Splice_Site	-	A	p.V374_splice
CESC	TCGA-DS-A3LQ-01	exon_skip_420865 exon_skip_420864 exon_skip_420863	196876614	196876667	196876613	196876613	Splice_Site	C	T	e6+1
COAD	TCGA-AZ-4315-01	exon_skip_420865 exon_skip_420864 exon_skip_420863	196876614	196876667	196876613	196876613	Splice_Site	C	T	.

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-DS-A3LQ-01
	Cancer type: CESC
	ESID: exon_skip_420863
	Skipped exon start: 196876614
	Skipped exon end: 196876667
	Mutation start: 196876613
	Mutation end: 196876613
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: e6+1
exon_skip_296822_CESC_TCGA-DS-A3LQ-01.png
exon_skip_420863_CESC_TCGA-DS-A3LQ-01.png
exon_skip_420865_CESC_TCGA-DS-A3LQ-01.png
	Sample: TCGA-DS-A3LQ-01
	Cancer type: CESC
	ESID: exon_skip_420863
	Skipped exon start: 196876614
	Skipped exon end: 196876667
	Mutation start: 196876613
	Mutation end: 196876613
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: e6+1
exon_skip_296822_CESC_TCGA-DS-A3LQ-01.png
exon_skip_420863_CESC_TCGA-DS-A3LQ-01.png
exon_skip_420865_CESC_TCGA-DS-A3LQ-01.png

- 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
BICR18_UPPER_AERODIGESTIVE_TRACT	196786760	196786869	196786795	196786796	Frame_Shift_Del	GG	-	p.S827fs
BICR18_UPPER_AERODIGESTIVE_TRACT	196786760	196786869	196786801	196786802	Frame_Shift_Ins	-	TT	p.P825fs
BICR18_UPPER_AERODIGESTIVE_TRACT	196807922	196807988	196807931	196807932	Frame_Shift_Ins	-	C	p.R665fs
BICR18_UPPER_AERODIGESTIVE_TRACT	196807922	196807988	196807934	196807935	Frame_Shift_Ins	-	TT	p.T664fs
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	196921296	196921460	196921357	196921359	In_Frame_Del	TTC	-	p.K140del
SNU349_KIDNEY	196778448	196778539	196778470	196778470	Missense_Mutation	C	A	p.Q862H
MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	196778448	196778539	196778495	196778495	Missense_Mutation	A	C	p.F854C
HOP62_LUNG	196778448	196778539	196778533	196778533	Missense_Mutation	C	T	p.M841I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	196786760	196786869	196786803	196786803	Missense_Mutation	G	T	p.P825T
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	196786760	196786869	196786859	196786859	Missense_Mutation	C	T	p.C806Y
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	196812451	196812627	196812454	196812454	Missense_Mutation	C	T	p.R645H
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	196812167	196812627	196812454	196812454	Missense_Mutation	C	T	p.R645H
HCC56_LARGE_INTESTINE	196812451	196812627	196812504	196812504	Missense_Mutation	C	A	p.Q628H
HCC56_LARGE_INTESTINE	196812167	196812627	196812504	196812504	Missense_Mutation	C	A	p.Q628H
HT115_LARGE_INTESTINE	196812451	196812627	196812544	196812544	Missense_Mutation	A	C	p.V615G
HT115_LARGE_INTESTINE	196812167	196812627	196812544	196812544	Missense_Mutation	A	C	p.V615G
UWB1289_OVARY	196812451	196812627	196812604	196812604	Missense_Mutation	G	T	p.T595N
UWB1289_OVARY	196812167	196812627	196812604	196812604	Missense_Mutation	G	T	p.T595N
LB373EBV_MATCHED_NORMAL_TISSUE	196817783	196817897	196817798	196817798	Missense_Mutation	C	T	p.R582Q
LB373MELD_SKIN	196817783	196817897	196817798	196817798	Missense_Mutation	C	T	p.R582Q
SW48_LARGE_INTESTINE	196817783	196817897	196817838	196817838	Missense_Mutation	T	C	p.I569V
GP5D_LARGE_INTESTINE	196817783	196817897	196817838	196817838	Missense_Mutation	T	C	p.I569V
CW2_LARGE_INTESTINE	196817783	196817897	196817862	196817862	Missense_Mutation	G	A	p.R561W
NCIH2135_LUNG	196846281	196846401	196846306	196846306	Missense_Mutation	C	T	p.V454I
CPCN_LUNG	196846281	196846401	196846392	196846392	Missense_Mutation	T	A	p.Q425L
MFE319_ENDOMETRIUM	196857398	196857542	196857500	196857500	Missense_Mutation	C	A	p.V388L
HEC1A_ENDOMETRIUM	196857398	196857542	196857508	196857508	Missense_Mutation	T	C	p.E385G
HEC1_ENDOMETRIUM	196857398	196857542	196857508	196857508	Missense_Mutation	T	C	p.E385G
HEC1B_ENDOMETRIUM	196857398	196857542	196857508	196857508	Missense_Mutation	T	C	p.E385G
HCC1569_BREAST	196869589	196869639	196869617	196869617	Missense_Mutation	T	C	p.Y220C
TM31_CENTRAL_NERVOUS_SYSTEM	196869589	196869639	196869626	196869626	Missense_Mutation	T	C	p.D217G
SNU407_LARGE_INTESTINE	196869589	196869639	196869626	196869626	Missense_Mutation	T	G	p.D217A
EPLC272H_LUNG	196876614	196876667	196876630	196876630	Missense_Mutation	A	G	p.L207S
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	196876614	196876667	196876645	196876645	Missense_Mutation	A	T	p.V202D
SLR25_KIDNEY	196921296	196921460	196921301	196921301	Missense_Mutation	T	C	p.I160V
SCABER_URINARY_TRACT	196921296	196921460	196921343	196921343	Missense_Mutation	C	G	p.E146Q
RD_SOFT_TISSUE	197023217	197023348	197023261	197023261	Missense_Mutation	C	T	p.R36Q
KYSE150_OESOPHAGUS	197023217	197023348	197023262	197023262	Missense_Mutation	G	A	p.R36W
NCIH2110_LUNG	196812451	196812627	196812578	196812578	Nonsense_Mutation	C	A	p.G604*
NCIH2110_LUNG	196812167	196812627	196812578	196812578	Nonsense_Mutation	C	A	p.G604*
CW2_LARGE_INTESTINE	196888511	196888609	196888513	196888513	Nonsense_Mutation	G	A	p.Q194*
MOGGUVW_CENTRAL_NERVOUS_SYSTEM	196812451	196812627	196812627	196812627	Splice_Site	T	C	p.R587R
MOGGUVW_CENTRAL_NERVOUS_SYSTEM	196812167	196812627	196812627	196812627	Splice_Site	T	C	p.R587R
NCIBL2126_MATCHED_NORMAL_TISSUE	196857398	196857542	196857398	196857398	Splice_Site	A	G	p.S422P
NCIH2126_LUNG	196857398	196857542	196857398	196857398	Splice_Site	A	G	p.S422P

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DLG1

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 DLG1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DLG1

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RelatedDrugs for DLG1

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 DLG1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
DLG1	C0036341	Schizophrenia	3	CTD_human
DLG1	C0008925	Cleft Palate	1	CTD_human

	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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