ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SPIDR

Gene summary

Gene information	Gene symbol	SPIDR
	Gene ID	23514
	Gene name	scaffold protein involved in DNA repair
	Synonyms	KIAA0146
	Cytomap	8q11.21
	Type of gene	protein-coding
	Description	DNA repair-scaffolding proteinscaffolding protein involved in DNA repair
	Modification date	20180523
	UniProtAcc	Q14159
	Context	PubMed: SPIDR [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
SPIDR	GO:0006974	cellular response to DNA damage stimulus	23509288
SPIDR	GO:0010569	regulation of double-strand break repair via homologous recombination	23754376
SPIDR	GO:0031334	positive regulation of protein complex assembly	23509288
SPIDR	GO:0070202	regulation of establishment of protein localization to chromosome	23509288
SPIDR	GO:0071479	cellular response to ionizing radiation	23509288\|23754376
SPIDR	GO:0072711	cellular response to hydroxyurea	23509288
SPIDR	GO:0072757	cellular response to camptothecin	23509288

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Exon skipping events across known transcript of Ensembl for SPIDR 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 SPIDR

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 SPIDR

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_483416	8	48173556:48173583:48192449:48192568:48196616:48196683	48192449:48192568	ENSG00000164808.12	ENST00000518074.1
exon_skip_483417	8	48173556:48173583:48192449:48192605:48196616:48196683	48192449:48192605	ENSG00000164808.12	ENST00000519661.1,ENST00000524006.1,ENST00000522900.1,ENST00000517824.1,ENST00000524141.1,ENST00000522222.1,ENST00000524126.1,ENST00000524033.1
exon_skip_483418	8	48173556:48173583:48192449:48192605:48203621:48203726	48192449:48192605	ENSG00000164808.12	ENST00000522117.1,ENST00000541342.1
exon_skip_483420	8	48173556:48173583:48192451:48192605:48196616:48196683	48192451:48192605	ENSG00000164808.12	ENST00000523814.1
exon_skip_483425	8	48192451:48192605:48196616:48196683:48203621:48203726	48196616:48196683	ENSG00000164808.12	ENST00000521214.1,ENST00000519661.1,ENST00000524006.1,ENST00000522900.1,ENST00000517824.1,ENST00000524141.1,ENST00000522222.1,ENST00000523814.1,ENST00000524126.1,ENST00000297423.4,ENST00000524033.1
exon_skip_483430	8	48203641:48203726:48206455:48206619:48308935:48309186	48206455:48206619	ENSG00000164808.12	ENST00000521214.1,ENST00000524141.1,ENST00000522117.1,ENST00000541342.1,ENST00000297423.4,ENST00000518074.1
exon_skip_483431	8	48203641:48203726:48206455:48206619:48320422:48320523	48206455:48206619	ENSG00000164808.12	ENST00000524033.1
exon_skip_483432	8	48203641:48203726:48206455:48206619:48352884:48352959	48206455:48206619	ENSG00000164808.12	ENST00000519661.1,ENST00000521550.1,ENST00000524126.1
exon_skip_483439	8	48203641:48203726:48308935:48309186:48320422:48320523	48308935:48309186	ENSG00000164808.12	ENST00000523814.1
exon_skip_483440	8	48203641:48203726:48308935:48309186:48352884:48352959	48308935:48309186	ENSG00000164808.12	ENST00000517824.1
exon_skip_483442	8	48203641:48203726:48320422:48320523:48352884:48352959	48320422:48320523	ENSG00000164808.12	ENST00000524006.1
exon_skip_483452	8	48206455:48206619:48308935:48309186:48320422:48320523	48308935:48309186	ENSG00000164808.12	ENST00000521214.1,ENST00000524141.1,ENST00000522117.1,ENST00000541342.1,ENST00000297423.4,ENST00000518074.1
exon_skip_483455	8	48206455:48206619:48320422:48320523:48352884:48352959	48320422:48320523	ENSG00000164808.12	ENST00000524033.1
exon_skip_483459	8	48206455:48206619:48352884:48353104:48508372:48508546	48352884:48353104	ENSG00000164808.12	ENST00000519661.1,ENST00000521550.1,ENST00000524126.1
exon_skip_483464	8	48308935:48309186:48320422:48320523:48352884:48352959	48320422:48320523	ENSG00000164808.12	ENST00000521214.1,ENST00000524141.1,ENST00000521918.2,ENST00000522117.1,ENST00000541342.1,ENST00000297423.4,ENST00000518074.1
exon_skip_483470	8	48320422:48320523:48352884:48353104:48508372:48508546	48352884:48353104	ENSG00000164808.12	ENST00000521214.1,ENST00000524006.1,ENST00000524141.1,ENST00000522117.1,ENST00000541342.1,ENST00000297423.4,ENST00000524033.1,ENST00000518074.1
exon_skip_483474	8	48352962:48353104:48508372:48508568:48511507:48511597	48508372:48508568	ENSG00000164808.12	ENST00000521214.1,ENST00000519661.1,ENST00000524006.1,ENST00000519401.1,ENST00000524141.1,ENST00000521550.1,ENST00000522117.1,ENST00000541342.1,ENST00000297423.4,ENST00000518074.1
exon_skip_483480	8	48508372:48508568:48511507:48511758:48586362:48586503	48511507:48511758	ENSG00000164808.12	ENST00000521214.1,ENST00000519401.1,ENST00000524141.1,ENST00000521550.1,ENST00000522117.1,ENST00000541342.1,ENST00000297423.4,ENST00000518074.1
exon_skip_483481	8	48511507:48511758:48586362:48586503:48612964:48613052	48586362:48586503	ENSG00000164808.12	ENST00000519401.1,ENST00000524141.1,ENST00000521550.1,ENST00000522117.1,ENST00000541342.1,ENST00000297423.4,ENST00000518074.1
exon_skip_483482	8	48573006:48573076:48573479:48573565:48586362:48586503	48573479:48573565	ENSG00000164808.12	ENST00000517693.1
exon_skip_483483	8	48612969:48613052:48614282:48614426:48614517:48614577	48614282:48614426	ENSG00000164808.12	ENST00000519362.1,ENST00000521214.1,ENST00000522321.1,ENST00000519401.1,ENST00000524141.1,ENST00000518692.1,ENST00000521550.1,ENST00000519141.1,ENST00000522117.1,ENST00000541342.1,ENST00000524126.1,ENST00000297423.4,ENST00000517693.1,ENST00000518074.1
exon_skip_483484	8	48614282:48614426:48614517:48614577:48625223:48625434	48614517:48614577	ENSG00000164808.12	ENST00000519362.1,ENST00000521214.1,ENST00000522321.1,ENST00000519401.1,ENST00000524141.1,ENST00000518692.1,ENST00000521550.1,ENST00000519141.1,ENST00000522117.1,ENST00000541342.1,ENST00000524126.1,ENST00000297423.4,ENST00000517693.1,ENST00000518074.1
exon_skip_483486	8	48614517:48614577:48625223:48625434:48626050:48626095	48625223:48625434	ENSG00000164808.12	ENST00000519362.1,ENST00000521214.1,ENST00000522321.1,ENST00000519401.1,ENST00000518692.1,ENST00000519141.1,ENST00000522117.1,ENST00000541342.1,ENST00000524126.1,ENST00000297423.4,ENST00000517693.1,ENST00000518074.1
exon_skip_483489	8	48626091:48626203:48639761:48639855:48641494:48641609	48639761:48639855	ENSG00000164808.12	ENST00000519362.1,ENST00000521214.1,ENST00000519141.1,ENST00000522117.1,ENST00000541342.1,ENST00000524126.1,ENST00000297423.4,ENST00000517693.1,ENST00000518074.1
exon_skip_483492	8	48626091:48626203:48639761:48639855:48647868:48647889	48639761:48639855	ENSG00000164808.12	ENST00000519401.1
exon_skip_483499	8	48639814:48639855:48641494:48641609:48641973:48642027	48641494:48641609	ENSG00000164808.12	ENST00000519362.1,ENST00000521214.1,ENST00000517619.1,ENST00000519141.1,ENST00000518060.1,ENST00000522117.1,ENST00000541342.1,ENST00000524126.1,ENST00000297423.4,ENST00000517693.1
exon_skip_483502	8	48639814:48639855:48641494:48641664:48647868:48647889	48641494:48641664	ENSG00000164808.12	ENST00000518074.1
exon_skip_483506	8	48641494:48641609:48641973:48642027:48647868:48647889	48641973:48642027	ENSG00000164808.12	ENST00000519362.1,ENST00000521214.1,ENST00000517619.1,ENST00000519141.1,ENST00000522117.1,ENST00000541342.1,ENST00000524126.1,ENST00000297423.4,ENST00000517693.1
exon_skip_483509	8	48641973:48642027:48644690:48644755:48647868:48647889	48644690:48644755	ENSG00000164808.12	ENST00000518060.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SPIDR

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_483416	8	48173556:48173583:48192449:48192568:48196616:48196683	48192449:48192568	ENSG00000164808.12	ENST00000518074.1
exon_skip_483417	8	48173556:48173583:48192449:48192605:48196616:48196683	48192449:48192605	ENSG00000164808.12	ENST00000522900.1,ENST00000517824.1,ENST00000524126.1,ENST00000522222.1,ENST00000519661.1,ENST00000524141.1,ENST00000524033.1,ENST00000524006.1
exon_skip_483418	8	48173556:48173583:48192449:48192605:48203621:48203726	48192449:48192605	ENSG00000164808.12	ENST00000522117.1,ENST00000541342.1
exon_skip_483420	8	48173556:48173583:48192451:48192605:48196616:48196683	48192451:48192605	ENSG00000164808.12	ENST00000523814.1
exon_skip_483425	8	48192451:48192605:48196616:48196683:48203621:48203726	48196616:48196683	ENSG00000164808.12	ENST00000297423.4,ENST00000523814.1,ENST00000522900.1,ENST00000517824.1,ENST00000524126.1,ENST00000522222.1,ENST00000519661.1,ENST00000524141.1,ENST00000524033.1,ENST00000524006.1,ENST00000521214.1
exon_skip_483430	8	48203641:48203726:48206455:48206619:48308935:48309186	48206455:48206619	ENSG00000164808.12	ENST00000297423.4,ENST00000518074.1,ENST00000524141.1,ENST00000522117.1,ENST00000541342.1,ENST00000521214.1
exon_skip_483431	8	48203641:48203726:48206455:48206619:48320422:48320523	48206455:48206619	ENSG00000164808.12	ENST00000524033.1
exon_skip_483432	8	48203641:48203726:48206455:48206619:48352884:48352959	48206455:48206619	ENSG00000164808.12	ENST00000521550.1,ENST00000524126.1,ENST00000519661.1
exon_skip_483439	8	48203641:48203726:48308935:48309186:48320422:48320523	48308935:48309186	ENSG00000164808.12	ENST00000523814.1
exon_skip_483440	8	48203641:48203726:48308935:48309186:48352884:48352959	48308935:48309186	ENSG00000164808.12	ENST00000517824.1
exon_skip_483442	8	48203641:48203726:48320422:48320523:48352884:48352959	48320422:48320523	ENSG00000164808.12	ENST00000524006.1
exon_skip_483452	8	48206455:48206619:48308935:48309186:48320422:48320523	48308935:48309186	ENSG00000164808.12	ENST00000297423.4,ENST00000518074.1,ENST00000524141.1,ENST00000522117.1,ENST00000541342.1,ENST00000521214.1
exon_skip_483455	8	48206455:48206619:48320422:48320523:48352884:48352959	48320422:48320523	ENSG00000164808.12	ENST00000524033.1
exon_skip_483459	8	48206455:48206619:48352884:48353104:48508372:48508546	48352884:48353104	ENSG00000164808.12	ENST00000521550.1,ENST00000524126.1,ENST00000519661.1
exon_skip_483464	8	48308935:48309186:48320422:48320523:48352884:48352959	48320422:48320523	ENSG00000164808.12	ENST00000297423.4,ENST00000518074.1,ENST00000524141.1,ENST00000522117.1,ENST00000541342.1,ENST00000521214.1,ENST00000521918.2
exon_skip_483470	8	48320422:48320523:48352884:48353104:48508372:48508546	48352884:48353104	ENSG00000164808.12	ENST00000297423.4,ENST00000518074.1,ENST00000524141.1,ENST00000524033.1,ENST00000522117.1,ENST00000541342.1,ENST00000524006.1,ENST00000521214.1
exon_skip_483474	8	48352962:48353104:48508372:48508568:48511507:48511597	48508372:48508568	ENSG00000164808.12	ENST00000297423.4,ENST00000518074.1,ENST00000521550.1,ENST00000519661.1,ENST00000524141.1,ENST00000522117.1,ENST00000541342.1,ENST00000524006.1,ENST00000521214.1,ENST00000519401.1
exon_skip_483475	8	48352962:48353104:48508372:48508568:48586362:48586503	48508372:48508568	ENSG00000164808.12	ENST00000524126.1
exon_skip_483480	8	48508372:48508568:48511507:48511758:48586362:48586503	48511507:48511758	ENSG00000164808.12	ENST00000297423.4,ENST00000518074.1,ENST00000521550.1,ENST00000524141.1,ENST00000522117.1,ENST00000541342.1,ENST00000521214.1,ENST00000519401.1
exon_skip_483481	8	48511507:48511758:48586362:48586503:48612964:48613052	48586362:48586503	ENSG00000164808.12	ENST00000297423.4,ENST00000518074.1,ENST00000521550.1,ENST00000524141.1,ENST00000522117.1,ENST00000541342.1,ENST00000519401.1
exon_skip_483482	8	48573006:48573076:48573479:48573565:48586362:48586503	48573479:48573565	ENSG00000164808.12	ENST00000517693.1
exon_skip_483483	8	48612969:48613052:48614282:48614426:48614517:48614577	48614282:48614426	ENSG00000164808.12	ENST00000297423.4,ENST00000518074.1,ENST00000521550.1,ENST00000524126.1,ENST00000524141.1,ENST00000522117.1,ENST00000541342.1,ENST00000521214.1,ENST00000519401.1,ENST00000519141.1,ENST00000517693.1,ENST00000519362.1,ENST00000522321.1,ENST00000518692.1
exon_skip_483484	8	48614282:48614426:48614517:48614577:48625223:48625434	48614517:48614577	ENSG00000164808.12	ENST00000297423.4,ENST00000518074.1,ENST00000521550.1,ENST00000524126.1,ENST00000524141.1,ENST00000522117.1,ENST00000541342.1,ENST00000521214.1,ENST00000519401.1,ENST00000519141.1,ENST00000517693.1,ENST00000519362.1,ENST00000522321.1,ENST00000518692.1
exon_skip_483486	8	48614517:48614577:48625223:48625434:48626050:48626095	48625223:48625434	ENSG00000164808.12	ENST00000297423.4,ENST00000518074.1,ENST00000524126.1,ENST00000522117.1,ENST00000541342.1,ENST00000521214.1,ENST00000519401.1,ENST00000519141.1,ENST00000517693.1,ENST00000519362.1,ENST00000522321.1,ENST00000518692.1
exon_skip_483489	8	48626091:48626203:48639761:48639855:48641494:48641609	48639761:48639855	ENSG00000164808.12	ENST00000297423.4,ENST00000518074.1,ENST00000524126.1,ENST00000522117.1,ENST00000541342.1,ENST00000521214.1,ENST00000519141.1,ENST00000517693.1,ENST00000519362.1
exon_skip_483492	8	48626091:48626203:48639761:48639855:48647868:48647889	48639761:48639855	ENSG00000164808.12	ENST00000519401.1
exon_skip_483499	8	48639814:48639855:48641494:48641609:48641973:48642027	48641494:48641609	ENSG00000164808.12	ENST00000297423.4,ENST00000524126.1,ENST00000522117.1,ENST00000541342.1,ENST00000521214.1,ENST00000519141.1,ENST00000517693.1,ENST00000519362.1,ENST00000517619.1,ENST00000518060.1
exon_skip_483502	8	48639814:48639855:48641494:48641664:48647868:48647889	48641494:48641664	ENSG00000164808.12	ENST00000518074.1
exon_skip_483506	8	48641494:48641609:48641973:48642027:48647868:48647889	48641973:48642027	ENSG00000164808.12	ENST00000297423.4,ENST00000524126.1,ENST00000522117.1,ENST00000541342.1,ENST00000521214.1,ENST00000519141.1,ENST00000517693.1,ENST00000519362.1,ENST00000517619.1
exon_skip_483509	8	48641973:48642027:48644690:48644755:48647868:48647889	48644690:48644755	ENSG00000164808.12	ENST00000518060.1

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 SPIDR

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
ENST00000297423	48196616	48196683	Frame-shift
ENST00000297423	48206455	48206619	Frame-shift
ENST00000297423	48308935	48309186	Frame-shift
ENST00000297423	48320422	48320523	Frame-shift
ENST00000297423	48352884	48353104	Frame-shift
ENST00000297423	48508372	48508568	Frame-shift
ENST00000297423	48511507	48511758	Frame-shift
ENST00000297423	48625223	48625434	Frame-shift
ENST00000297423	48639761	48639855	Frame-shift
ENST00000297423	48641494	48641609	Frame-shift
ENST00000297423	48586362	48586503	In-frame
ENST00000297423	48614282	48614426	In-frame
ENST00000297423	48614517	48614577	In-frame
ENST00000297423	48641973	48642027	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
ENST00000297423	48196616	48196683	Frame-shift
ENST00000297423	48206455	48206619	Frame-shift
ENST00000297423	48308935	48309186	Frame-shift
ENST00000297423	48320422	48320523	Frame-shift
ENST00000297423	48352884	48353104	Frame-shift
ENST00000297423	48508372	48508568	Frame-shift
ENST00000297423	48511507	48511758	Frame-shift
ENST00000297423	48625223	48625434	Frame-shift
ENST00000297423	48639761	48639855	Frame-shift
ENST00000297423	48641494	48641609	Frame-shift
ENST00000297423	48586362	48586503	In-frame
ENST00000297423	48614282	48614426	In-frame
ENST00000297423	48614517	48614577	In-frame
ENST00000297423	48641973	48642027	In-frame

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

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
ENST00000297423	4005	915	48586362	48586503	1929	2069	515	561
ENST00000297423	4005	915	48614282	48614426	2158	2301	591	639
ENST00000297423	4005	915	48614517	48614577	2302	2361	639	659
ENST00000297423	4005	915	48641973	48642027	2935	2988	850	868

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
ENST00000297423	4005	915	48586362	48586503	1929	2069	515	561
ENST00000297423	4005	915	48614282	48614426	2158	2301	591	639
ENST00000297423	4005	915	48614517	48614577	2302	2361	639	659
ENST00000297423	4005	915	48641973	48642027	2935	2988	850	868

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
Q14159	515	561	1	915	Chain	ID=PRO_0000251720;Note=DNA repair-scaffolding protein
Q14159	591	639	1	915	Chain	ID=PRO_0000251720;Note=DNA repair-scaffolding protein
Q14159	639	659	1	915	Chain	ID=PRO_0000251720;Note=DNA repair-scaffolding protein
Q14159	850	868	851	915	Alternative sequence	ID=VSP_056654;Note=In isoform 3. LLQRSISSLLRFAAGEDGSYEVKSVLGKEVGLLNCFVQSVTAHPTSCIGLEEIELLSAGGASAEH->VGARPEHARTPSSLQHSEELRSEECPRKGSGVVKLFCPVRNRPPDQLHWIGGNRASECRRGLCRTLAVAAGSVNFAMWLQGWWWWW;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxre
Q14159	850	868	1	915	Chain	ID=PRO_0000251720;Note=DNA repair-scaffolding protein

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
Q14159	515	561	1	915	Chain	ID=PRO_0000251720;Note=DNA repair-scaffolding protein
Q14159	591	639	1	915	Chain	ID=PRO_0000251720;Note=DNA repair-scaffolding protein
Q14159	639	659	1	915	Chain	ID=PRO_0000251720;Note=DNA repair-scaffolding protein
Q14159	850	868	851	915	Alternative sequence	ID=VSP_056654;Note=In isoform 3. LLQRSISSLLRFAAGEDGSYEVKSVLGKEVGLLNCFVQSVTAHPTSCIGLEEIELLSAGGASAEH->VGARPEHARTPSSLQHSEELRSEECPRKGSGVVKLFCPVRNRPPDQLHWIGGNRASECRRGLCRTLAVAAGSVNFAMWLQGWWWWW;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxre
Q14159	850	868	1	915	Chain	ID=PRO_0000251720;Note=DNA repair-scaffolding protein

Top

SNVs in the skipped exons for SPIDR

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A39Y-01	exon_skip_483440 exon_skip_483439 exon_skip_483452	48308936	48309186	48309013	48309013	Frame_Shift_Del	T	-	p.D201fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_483440 exon_skip_483439 exon_skip_483452	48308936	48309186	48309159	48309159	Frame_Shift_Del	A	-	p.E250fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_483440 exon_skip_483439 exon_skip_483452	48308936	48309186	48309163	48309163	Frame_Shift_Del	T	-	p.N251fs
LIHC	TCGA-DD-A3A0-01	exon_skip_483474	48508373	48508568	48508459	48508459	Frame_Shift_Del	A	-	p.E395fs
LIHC	TCGA-DD-A3A0-01	exon_skip_483474	48508373	48508568	48508538	48508538	Frame_Shift_Del	G	-	p.K421fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_483480	48511508	48511758	48511579	48511579	Frame_Shift_Del	C	-	p.I455fs
LIHC	TCGA-DD-A39Y-01	exon_skip_483480	48511508	48511758	48511710	48511710	Frame_Shift_Del	G	-	p.R499fs
LIHC	TCGA-DD-A1EG-01	exon_skip_483484	48614518	48614577	48614567	48614567	Frame_Shift_Del	A	-	p.Q656fs
LIHC	TCGA-DD-A1EG-01	exon_skip_483486	48625224	48625434	48625358	48625358	Frame_Shift_Del	G	-	p.L704fs
LIHC	TCGA-DD-A1EG-01	exon_skip_483486	48625224	48625434	48625386	48625386	Frame_Shift_Del	G	-	p.G714fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_483492 exon_skip_483489	48639762	48639855	48639771	48639771	Frame_Shift_Del	T	-	p.V784fs
LIHC	TCGA-DD-A3A0-01	exon_skip_483492 exon_skip_483489	48639762	48639855	48639793	48639793	Frame_Shift_Del	T	-	p.A791fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_483499	48641495	48641609	48641502	48641502	Frame_Shift_Del	T	-	p.F815fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_483502	48641495	48641664	48641502	48641502	Frame_Shift_Del	T	-	p.F815fs
CESC	TCGA-DR-A0ZM-01	exon_skip_483440 exon_skip_483439 exon_skip_483452	48308936	48309186	48309015	48309015	Nonsense_Mutation	C	G	p.S202*
LUAD	TCGA-53-7624-01	exon_skip_483440 exon_skip_483439 exon_skip_483452	48308936	48309186	48309095	48309095	Nonsense_Mutation	A	T	p.K229*
BLCA	TCGA-XF-A9T5-01	exon_skip_483442 exon_skip_483464 exon_skip_483455	48320423	48320523	48320493	48320493	Nonsense_Mutation	C	T	p.Q283*
LGG	TCGA-DU-6392-01	exon_skip_483442 exon_skip_483464 exon_skip_483455	48320423	48320523	48320493	48320493	Nonsense_Mutation	C	T	p.Q283*
LIHC	TCGA-BC-4073-01	exon_skip_483474	48508373	48508568	48508456	48508456	Nonsense_Mutation	C	G	p.S394*
SKCM	TCGA-BF-AAP1-01	exon_skip_483480	48511508	48511758	48511545	48511545	Nonsense_Mutation	G	A	p.W444*
SKCM	TCGA-BF-AAP1-01	exon_skip_483480	48511508	48511758	48511546	48511546	Nonsense_Mutation	G	A	p.W444*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_483452
	Skipped exon start: 48308936
	Skipped exon end: 48309186
	Mutation start: 48309159
	Mutation end: 48309159
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.E250fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_483452
	Skipped exon start: 48308936
	Skipped exon end: 48309186
	Mutation start: 48309163
	Mutation end: 48309163
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.N251fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_483480
	Skipped exon start: 48511508
	Skipped exon end: 48511758
	Mutation start: 48511579
	Mutation end: 48511579
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.I455fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_483489
	Skipped exon start: 48639762
	Skipped exon end: 48639855
	Mutation start: 48639771
	Mutation end: 48639771
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.V784fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_483502
	Skipped exon start: 48641495
	Skipped exon end: 48641664
	Mutation start: 48641502
	Mutation end: 48641502
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.F815fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_483499
	Skipped exon start: 48641495
	Skipped exon end: 48641609
	Mutation start: 48641502
	Mutation end: 48641502
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.F815fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109529_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109778_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11289_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11349_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113898_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11611_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11615_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11641_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11926_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11937_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11939_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124065_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124066_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126833_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126836_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1268_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1270_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_127101_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1274_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_128729_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129795_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129799_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131401_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131474_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_135545_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_135553_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_13626_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138373_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_141657_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_143515_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_143728_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_14564_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_149490_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_153354_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1873_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1874_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_24442_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_284510_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289275_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289905_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_291218_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_293221_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_293223_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300058_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302253_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_305815_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30789_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30792_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309404_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309486_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309505_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309539_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_311823_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_313290_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315285_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_316122_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_325693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327441_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327550_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329666_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_331517_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354387_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354396_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_356468_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365023_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_371589_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_375393_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_380574_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382000_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382738_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_385031_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_387684_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421130_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421131_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421134_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426530_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_427391_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_430528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433436_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433655_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_434375_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_43567_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436327_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_444593_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_445559_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_447600_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_452739_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_4535_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_457245_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_45824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464169_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464999_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_466343_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_467017_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_468347_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_470485_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_478117_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483502_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483622_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_492152_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_499409_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_502144_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504288_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504556_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506095_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506097_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507316_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507513_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_55516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57597_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57603_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5818_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5861_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_58894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_59476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_60476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67293_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67402_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_69019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_71100_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_73796_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_84528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86050_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86051_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86135_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_87721_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_93891_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_94866_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_96453_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_98550_LIHC_TCGA-G3-A3CJ-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
SLR21_KIDNEY	48192450	48192605	48192476	48192476	Frame_Shift_Del	C	-	p.C20fs
SLR21_KIDNEY	48192450	48192568	48192476	48192476	Frame_Shift_Del	C	-	p.C20fs
SLR21_KIDNEY	48192452	48192605	48192476	48192476	Frame_Shift_Del	C	-	p.C20fs
LS411N_LARGE_INTESTINE	48511508	48511758	48511720	48511720	Frame_Shift_Del	G	-	p.Q502fs
SW1783_CENTRAL_NERVOUS_SYSTEM	48308936	48309186	48309028	48309029	Frame_Shift_Ins	-	AAAAA	p.K207fs
CP66EBV_MATCHED_NORMAL_TISSUE	48308936	48309186	48309028	48309029	Frame_Shift_Ins	-	AAAAA	p.K207fs
CP66MEL_SKIN	48308936	48309186	48309028	48309029	Frame_Shift_Ins	-	AAAAA	p.K207fs
SNGM_ENDOMETRIUM	48508373	48508568	48508458	48508459	Frame_Shift_Ins	-	A	p.E395fs
HS606T_FIBROBLAST	48192450	48192605	48192514	48192514	Missense_Mutation	G	T	p.R33I
HS606T_FIBROBLAST	48192450	48192568	48192514	48192514	Missense_Mutation	G	T	p.R33I
HS606T_FIBROBLAST	48192452	48192605	48192514	48192514	Missense_Mutation	G	T	p.R33I
CW2_LARGE_INTESTINE	48192450	48192605	48192544	48192544	Missense_Mutation	C	T	p.A43V
CW2_LARGE_INTESTINE	48192450	48192568	48192544	48192544	Missense_Mutation	C	T	p.A43V
CW2_LARGE_INTESTINE	48192452	48192605	48192544	48192544	Missense_Mutation	C	T	p.A43V
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48192450	48192605	48192565	48192565	Missense_Mutation	T	G	p.L50R
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48192450	48192568	48192565	48192565	Missense_Mutation	T	G	p.L50R
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48192452	48192605	48192565	48192565	Missense_Mutation	T	G	p.L50R
JIMT1_BREAST	48196617	48196683	48196629	48196629	Missense_Mutation	G	A	p.E68K
HS840T_FIBROBLAST	48196617	48196683	48196629	48196629	Missense_Mutation	G	A	p.E68K
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48196617	48196683	48196668	48196668	Missense_Mutation	C	T	p.P81S
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48206456	48206619	48206479	48206479	Missense_Mutation	G	C	p.E129Q
SW1783_CENTRAL_NERVOUS_SYSTEM	48308936	48309186	48309032	48309032	Missense_Mutation	T	A	p.Y208N
HEC1A_ENDOMETRIUM	48320423	48320523	48320452	48320452	Missense_Mutation	T	C	p.L269P
A673_BONE	48320423	48320523	48320502	48320502	Missense_Mutation	T	C	p.S286P
COLO824_BREAST	48352885	48353104	48352968	48352968	Missense_Mutation	T	A	p.L321M
MM370_SKIN	48352885	48353104	48353101	48353101	Missense_Mutation	C	T	p.P365L
HS936T_SKIN	48352885	48353104	48353101	48353101	Missense_Mutation	C	T	p.P365L
HOP62_LUNG	48508373	48508568	48508452	48508452	Missense_Mutation	G	A	p.D393N
NCIH28_PLEURA	48508373	48508568	48508483	48508483	Missense_Mutation	C	T	p.P403L
SEKI_SKIN	48511508	48511758	48511571	48511571	Missense_Mutation	C	G	p.Q453E
SNU1040_LARGE_INTESTINE	48511508	48511758	48511574	48511574	Missense_Mutation	C	T	p.R454C
SARC9371_BONE	48511508	48511758	48511700	48511700	Missense_Mutation	G	A	p.D496N
LN229_CENTRAL_NERVOUS_SYSTEM	48511508	48511758	48511721	48511721	Missense_Mutation	G	A	p.G503R
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48511508	48511758	48511725	48511725	Missense_Mutation	C	T	p.A504V
NB1643_AUTONOMIC_GANGLIA	48586363	48586503	48586425	48586425	Missense_Mutation	T	C	p.M536T
NCIH660_PROSTATE	48614283	48614426	48614334	48614334	Missense_Mutation	C	G	p.P609A
LXF289_LUNG	48614283	48614426	48614367	48614367	Missense_Mutation	G	C	p.D620H
HCT15_LARGE_INTESTINE	48614283	48614426	48614397	48614397	Missense_Mutation	G	A	p.V630I
SISO_CERVIX	48614283	48614426	48614404	48614404	Missense_Mutation	G	A	p.R632H
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48614283	48614426	48614404	48614404	Missense_Mutation	G	A	p.R632H
SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48614283	48614426	48614413	48614413	Missense_Mutation	G	T	p.R635I
HS934T_FIBROBLAST	48625224	48625434	48625232	48625232	Missense_Mutation	T	A	p.S662R
ACN_AUTONOMIC_GANGLIA	48625224	48625434	48625256	48625256	Missense_Mutation	G	C	p.E670D
TGBC11TKB_STOMACH	48625224	48625434	48625390	48625390	Missense_Mutation	C	T	p.A715V
PACADD137_PANCREAS	48625224	48625434	48625401	48625401	Missense_Mutation	A	C	p.S719R
HEC108_ENDOMETRIUM	48625224	48625434	48625417	48625417	Missense_Mutation	A	G	p.D724G
CAL62_THYROID	48625224	48625434	48625425	48625425	Missense_Mutation	C	T	p.R727C
ASH3_THYROID	48625224	48625434	48625428	48625428	Missense_Mutation	G	T	p.D728Y
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48639762	48639855	48639776	48639776	Missense_Mutation	G	A	p.V786M
TCCSUP_URINARY_TRACT	48639762	48639855	48639782	48639782	Missense_Mutation	G	A	p.E788K
AN3CA_ENDOMETRIUM	48639762	48639855	48639825	48639825	Missense_Mutation	A	G	p.N802S
SISO_CERVIX	48511508	48511758	48511645	48511645	Nonsense_Mutation	G	A	p.W477*
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48511508	48511758	48511645	48511645	Nonsense_Mutation	G	A	p.W477*
SNU324_PANCREAS	48511508	48511758	48511649	48511649	Nonsense_Mutation	G	T	p.G479*
REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48196617	48196683	48196618	48196618	Splice_Site	C	T	p.S64L

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

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 SPIDR

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

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RelatedDrugs for SPIDR

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 SPIDR

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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