ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for INTS8

Gene summary

Gene information	Gene symbol	INTS8
	Gene ID	55656
	Gene name	integrator complex subunit 8
	Synonyms	C8orf52\|INT8
	Cytomap	8q22.1
	Type of gene	protein-coding
	Description	integrator complex subunit 8protein kaonashi-1
	Modification date	20180522
	UniProtAcc	Q75QN2
	Context	PubMed: INTS8 [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
INTS8	GO:0016180	snRNA processing	16239144

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Exon skipping events across known transcript of Ensembl for INTS8 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 INTS8

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 INTS8

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_484796	8	95835437:95835529:95837120:95837295:95839490:95839581	95837120:95837295	ENSG00000164941.9	ENST00000521860.1
exon_skip_484797	8	95835603:95835789:95837120:95837295:95839490:95839581	95837120:95837295	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000447247.1,ENST00000523321.1,ENST00000524333.1
exon_skip_484798	8	95835603:95835789:95837120:95837295:95839949:95840021	95837120:95837295	ENSG00000164941.9	ENST00000519457.1
exon_skip_484799	8	95835603:95835789:95839490:95839631:95839949:95840021	95839490:95839631	ENSG00000164941.9	ENST00000519053.1
exon_skip_484800	8	95837120:95837295:95839490:95839631:95839949:95840012	95839490:95839631	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000522171.1,ENST00000343161.4,ENST00000447247.1,ENST00000521860.1,ENST00000523321.1,ENST00000524333.1
exon_skip_484807	8	95839490:95839631:95839949:95840021:95841202:95841254	95839949:95840021	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000522171.1,ENST00000343161.4,ENST00000447247.1,ENST00000519053.1,ENST00000521860.1,ENST00000523321.1,ENST00000524333.1
exon_skip_484809	8	95839949:95840021:95841202:95841254:95844219:95844229	95841202:95841254	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000522171.1,ENST00000343161.4,ENST00000447247.1,ENST00000519053.1,ENST00000521860.1,ENST00000523321.1,ENST00000524333.1,ENST00000519457.1
exon_skip_484811	8	95841219:95841254:95844219:95844402:95848751:95848859	95844219:95844402	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000447247.1,ENST00000520526.1,ENST00000523321.1,ENST00000524333.1
exon_skip_484812	8	95844219:95844402:95848751:95848859:95850690:95850846	95848751:95848859	ENSG00000164941.9	ENST00000523731.1,ENST00000343161.4,ENST00000447247.1,ENST00000520526.1,ENST00000523321.1
exon_skip_484813	8	95844219:95844402:95848751:95848859:95850721:95850846	95848751:95848859	ENSG00000164941.9	ENST00000523206.1,ENST00000524333.1
exon_skip_484819	8	95848751:95848859:95850690:95850846:95853718:95853819	95850690:95850846	ENSG00000164941.9	ENST00000523731.1,ENST00000343161.4,ENST00000447247.1,ENST00000520526.1,ENST00000523321.1
exon_skip_484821	8	95848751:95848859:95850721:95850846:95853718:95853819	95850721:95850846	ENSG00000164941.9	ENST00000523206.1,ENST00000524333.1
exon_skip_484822	8	95850721:95850846:95853718:95853819:95854574:95854716	95853718:95853819	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000447247.1,ENST00000520526.1,ENST00000523321.1,ENST00000524333.1
exon_skip_484824	8	95853718:95853819:95854574:95854716:95861689:95861760	95854574:95854716	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000447247.1,ENST00000520526.1,ENST00000523321.1,ENST00000524333.1
exon_skip_484831	8	95861689:95861760:95862143:95862319:95863780:95863914	95862143:95862319	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000447247.1,ENST00000520526.1,ENST00000523321.1,ENST00000524333.1
exon_skip_484834	8	95862143:95862319:95863780:95863914:95866032:95866143	95863780:95863914	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000447247.1,ENST00000520526.1,ENST00000523321.1,ENST00000524333.1
exon_skip_484835	8	95863780:95863914:95866032:95866143:95869004:95869206	95866032:95866143	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000447247.1,ENST00000520526.1,ENST00000523321.1,ENST00000524333.1
exon_skip_484836	8	95866032:95866143:95869004:95869206:95871738:95871860	95869004:95869206	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000520845.1,ENST00000447247.1,ENST00000520526.1,ENST00000523321.1,ENST00000524333.1
exon_skip_484837	8	95869190:95869206:95871738:95871860:95877733:95877918	95871738:95871860	ENSG00000164941.9	ENST00000520315.1,ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000447247.1,ENST00000520526.1,ENST00000524333.1
exon_skip_484838	8	95871738:95871860:95877733:95877918:95878385:95878419	95877733:95877918	ENSG00000164941.9	ENST00000520315.1,ENST00000523731.1,ENST00000523206.1,ENST00000447247.1,ENST00000520526.1
exon_skip_484840	8	95871738:95871860:95877733:95877928:95878385:95878419	95877733:95877928	ENSG00000164941.9	ENST00000343161.4,ENST00000524333.1
exon_skip_484844	8	95877847:95877918:95878385:95878419:95879367:95879424	95878385:95878419	ENSG00000164941.9	ENST00000517918.1,ENST00000523731.1,ENST00000523206.1,ENST00000447247.1,ENST00000520526.1
exon_skip_484847	8	95877733:95877928:95878385:95878419:95879367:95879424	95878385:95878419	ENSG00000164941.9	ENST00000524333.1
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENSG00000164941.9	ENST00000520315.1
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENSG00000164941.9	ENST00000343161.4
exon_skip_484854	8	95879555:95879565:95880919:95881041:95884111:95884115	95880919:95881041	ENSG00000164941.9	ENST00000523206.1,ENST00000343161.4,ENST00000519736.1
exon_skip_484856	8	95879555:95879565:95884111:95884230:95885601:95885705	95884111:95884230	ENSG00000164941.9	ENST00000523352.1,ENST00000523731.1,ENST00000447247.1,ENST00000520526.1,ENST00000524333.1,ENST00000521155.1
exon_skip_484858	8	95885601:95885705:95886779:95886830:95888301:95888370	95886779:95886830	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000524333.1,ENST00000521155.1
exon_skip_484861	8	95885601:95885705:95888301:95888375:95888448:95888513	95888301:95888375	ENSG00000164941.9	ENST00000447247.1,ENST00000520526.1
exon_skip_484862	8	95886779:95886830:95888301:95888375:95888448:95888513	95888301:95888375	ENSG00000164941.9	ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000524333.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for INTS8

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_484796	8	95835437:95835529:95837120:95837295:95839490:95839581	95837120:95837295	ENSG00000164941.9	ENST00000521860.1
exon_skip_484797	8	95835603:95835789:95837120:95837295:95839490:95839581	95837120:95837295	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000523206.1
exon_skip_484798	8	95835603:95835789:95837120:95837295:95839949:95840021	95837120:95837295	ENSG00000164941.9	ENST00000519457.1
exon_skip_484799	8	95835603:95835789:95839490:95839631:95839949:95840021	95839490:95839631	ENSG00000164941.9	ENST00000519053.1
exon_skip_484800	8	95837120:95837295:95839490:95839631:95839949:95840012	95839490:95839631	ENSG00000164941.9	ENST00000522171.1,ENST00000521860.1,ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000523206.1
exon_skip_484804	8	95837120:95837295:95839949:95840021:95841202:95841254	95839949:95840021	ENSG00000164941.9	ENST00000519457.1
exon_skip_484807	8	95839490:95839631:95839949:95840021:95841202:95841254	95839949:95840021	ENSG00000164941.9	ENST00000522171.1,ENST00000521860.1,ENST00000519053.1,ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000523206.1
exon_skip_484809	8	95839949:95840021:95841202:95841254:95844219:95844229	95841202:95841254	ENSG00000164941.9	ENST00000522171.1,ENST00000521860.1,ENST00000519457.1,ENST00000519053.1,ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000523206.1
exon_skip_484811	8	95841219:95841254:95844219:95844402:95848751:95848859	95844219:95844402	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000523206.1,ENST00000520526.1
exon_skip_484812	8	95844219:95844402:95848751:95848859:95850690:95850846	95848751:95848859	ENSG00000164941.9	ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000520526.1
exon_skip_484813	8	95844219:95844402:95848751:95848859:95850721:95850846	95848751:95848859	ENSG00000164941.9	ENST00000524333.1,ENST00000523206.1
exon_skip_484819	8	95848751:95848859:95850690:95850846:95853718:95853819	95850690:95850846	ENSG00000164941.9	ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000520526.1
exon_skip_484821	8	95848751:95848859:95850721:95850846:95853718:95853819	95850721:95850846	ENSG00000164941.9	ENST00000524333.1,ENST00000523206.1
exon_skip_484822	8	95850721:95850846:95853718:95853819:95854574:95854716	95853718:95853819	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000523206.1,ENST00000520526.1
exon_skip_484824	8	95853718:95853819:95854574:95854716:95861689:95861760	95854574:95854716	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000523206.1,ENST00000520526.1
exon_skip_484831	8	95861689:95861760:95862143:95862319:95863780:95863914	95862143:95862319	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000523206.1,ENST00000520526.1
exon_skip_484834	8	95862143:95862319:95863780:95863914:95866032:95866143	95863780:95863914	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000523206.1,ENST00000520526.1
exon_skip_484835	8	95863780:95863914:95866032:95866143:95869004:95869206	95866032:95866143	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000523206.1,ENST00000520526.1
exon_skip_484836	8	95866032:95866143:95869004:95869206:95871738:95871860	95869004:95869206	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000523321.1,ENST00000343161.4,ENST00000523206.1,ENST00000520526.1,ENST00000520845.1
exon_skip_484837	8	95869190:95869206:95871738:95871860:95877733:95877918	95871738:95871860	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000343161.4,ENST00000523206.1,ENST00000520526.1,ENST00000520315.1
exon_skip_484838	8	95871738:95871860:95877733:95877918:95878385:95878419	95877733:95877918	ENSG00000164941.9	ENST00000523731.1,ENST00000447247.1,ENST00000523206.1,ENST00000520526.1,ENST00000520315.1
exon_skip_484840	8	95871738:95871860:95877733:95877928:95878385:95878419	95877733:95877928	ENSG00000164941.9	ENST00000524333.1,ENST00000343161.4
exon_skip_484844	8	95877847:95877918:95878385:95878419:95879367:95879424	95878385:95878419	ENSG00000164941.9	ENST00000523731.1,ENST00000447247.1,ENST00000523206.1,ENST00000520526.1,ENST00000517918.1
exon_skip_484847	8	95877733:95877928:95878385:95878419:95879367:95879424	95878385:95878419	ENSG00000164941.9	ENST00000524333.1
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENSG00000164941.9	ENST00000520315.1
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENSG00000164941.9	ENST00000343161.4
exon_skip_484854	8	95879555:95879565:95880919:95881041:95884111:95884115	95880919:95881041	ENSG00000164941.9	ENST00000343161.4,ENST00000523206.1,ENST00000519736.1
exon_skip_484856	8	95879555:95879565:95884111:95884230:95885601:95885705	95884111:95884230	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000447247.1,ENST00000520526.1,ENST00000521155.1,ENST00000523352.1
exon_skip_484858	8	95885601:95885705:95886779:95886830:95888301:95888370	95886779:95886830	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000343161.4,ENST00000523206.1,ENST00000521155.1
exon_skip_484861	8	95885601:95885705:95888301:95888375:95888448:95888513	95888301:95888375	ENSG00000164941.9	ENST00000447247.1,ENST00000520526.1
exon_skip_484862	8	95886779:95886830:95888301:95888375:95888448:95888513	95888301:95888375	ENSG00000164941.9	ENST00000524333.1,ENST00000523731.1,ENST00000343161.4,ENST00000523206.1

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 INTS8

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
ENST00000523731	95837120	95837295	Frame-shift
ENST00000523731	95841202	95841254	Frame-shift
ENST00000523731	95853718	95853819	Frame-shift
ENST00000523731	95854574	95854716	Frame-shift
ENST00000523731	95862143	95862319	Frame-shift
ENST00000523731	95863780	95863914	Frame-shift
ENST00000523731	95869004	95869206	Frame-shift
ENST00000523731	95871738	95871860	Frame-shift
ENST00000523731	95877733	95877918	Frame-shift
ENST00000523731	95878385	95878419	Frame-shift
ENST00000523731	95884111	95884230	Frame-shift
ENST00000523731	95888301	95888375	Frame-shift
ENST00000523731	95839490	95839631	In-frame
ENST00000523731	95839949	95840021	In-frame
ENST00000523731	95844219	95844402	In-frame
ENST00000523731	95848751	95848859	In-frame
ENST00000523731	95850690	95850846	In-frame
ENST00000523731	95866032	95866143	In-frame
ENST00000523731	95886779	95886830	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
ENST00000523731	95837120	95837295	Frame-shift
ENST00000523731	95841202	95841254	Frame-shift
ENST00000523731	95853718	95853819	Frame-shift
ENST00000523731	95854574	95854716	Frame-shift
ENST00000523731	95862143	95862319	Frame-shift
ENST00000523731	95863780	95863914	Frame-shift
ENST00000523731	95869004	95869206	Frame-shift
ENST00000523731	95871738	95871860	Frame-shift
ENST00000523731	95877733	95877918	Frame-shift
ENST00000523731	95878385	95878419	Frame-shift
ENST00000523731	95884111	95884230	Frame-shift
ENST00000523731	95888301	95888375	Frame-shift
ENST00000523731	95839490	95839631	In-frame
ENST00000523731	95839949	95840021	In-frame
ENST00000523731	95844219	95844402	In-frame
ENST00000523731	95848751	95848859	In-frame
ENST00000523731	95850690	95850846	In-frame
ENST00000523731	95866032	95866143	In-frame
ENST00000523731	95886779	95886830	In-frame

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Infer the effects of exon skipping event on protein functional features for INTS8

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
ENST00000523731	4650	995	95839490	95839631	439	579	102	148
ENST00000523731	4650	995	95839949	95840021	580	651	149	172
ENST00000523731	4650	995	95844219	95844402	704	886	190	251
ENST00000523731	4650	995	95848751	95848859	887	994	251	287
ENST00000523731	4650	995	95850690	95850846	995	1150	287	339
ENST00000523731	4650	995	95866032	95866143	1775	1885	547	584
ENST00000523731	4650	995	95886779	95886830	2771	2821	879	896

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
ENST00000523731	4650	995	95839490	95839631	439	579	102	148
ENST00000523731	4650	995	95839949	95840021	580	651	149	172
ENST00000523731	4650	995	95844219	95844402	704	886	190	251
ENST00000523731	4650	995	95848751	95848859	887	994	251	287
ENST00000523731	4650	995	95850690	95850846	995	1150	287	339
ENST00000523731	4650	995	95866032	95866143	1775	1885	547	584
ENST00000523731	4650	995	95886779	95886830	2771	2821	879	896

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
Q75QN2	102	148	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	149	172	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	190	251	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	190	251	250	288	Repeat	Note=TPR 1
Q75QN2	251	287	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	251	287	250	288	Repeat	Note=TPR 1
Q75QN2	287	339	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	287	339	250	288	Repeat	Note=TPR 1
Q75QN2	287	339	320	356	Repeat	Note=TPR 2
Q75QN2	547	584	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	547	584	570	603	Repeat	Note=TPR 3
Q75QN2	879	896	879	895	Alternative sequence	ID=VSP_021469;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q75QN2	879	896	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8

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
Q75QN2	102	148	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	149	172	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	190	251	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	190	251	250	288	Repeat	Note=TPR 1
Q75QN2	251	287	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	251	287	250	288	Repeat	Note=TPR 1
Q75QN2	287	339	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	287	339	250	288	Repeat	Note=TPR 1
Q75QN2	287	339	320	356	Repeat	Note=TPR 2
Q75QN2	547	584	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8
Q75QN2	547	584	570	603	Repeat	Note=TPR 3
Q75QN2	879	896	879	895	Alternative sequence	ID=VSP_021469;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q75QN2	879	896	1	995	Chain	ID=PRO_0000259553;Note=Integrator complex subunit 8

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SNVs in the skipped exons for INTS8

- 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.

INTS8_UCS_exon_skip_484856_psi_boxplot.png
boxplot

- 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_484797 exon_skip_484796 exon_skip_484798	95837121	95837295	95837164	95837164	Frame_Shift_Del	T	-	p.A58fs
ESCA	TCGA-IG-A3YB-01	exon_skip_484809	95841203	95841254	95841223	95841223	Frame_Shift_Del	A	-	p.E182fs
PRAD	TCGA-G9-A9S4-01	exon_skip_484811	95844220	95844402	95844240	95844240	Frame_Shift_Del	T	-	p.D197fs
LIHC	TCGA-DD-A39Y-01	exon_skip_484812 exon_skip_484813	95848752	95848859	95848830	95848830	Frame_Shift_Del	T	-	p.F279fs
STAD	TCGA-BR-4370-01	exon_skip_484812 exon_skip_484813	95848752	95848859	95848830	95848830	Frame_Shift_Del	T	-	p.K277fs
LIHC	TCGA-DD-A39Y-01	exon_skip_484824	95854575	95854716	95854599	95854599	Frame_Shift_Del	T	-	p.C381fs
COAD	TCGA-AZ-4615-01	exon_skip_484831	95862144	95862319	95862281	95862282	Frame_Shift_Del	TG	-	p.490_490del
LIHC	TCGA-DD-A3A0-01	exon_skip_484836	95869005	95869206	95869029	95869029	Frame_Shift_Del	T	-	p.F593fs
UCEC	TCGA-D1-A16F-01	exon_skip_484836	95869005	95869206	95869029	95869030	Frame_Shift_Del	TT	-	p.F593fs
LIHC	TCGA-DD-A3A0-01	exon_skip_484838	95877734	95877918	95877744	95877744	Frame_Shift_Del	T	-	p.L697fs
LIHC	TCGA-DD-A3A0-01	exon_skip_484840	95877734	95877928	95877744	95877744	Frame_Shift_Del	T	-	p.L697fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_484838	95877734	95877918	95877744	95877744	Frame_Shift_Del	T	-	p.L696fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_484838	95877734	95877918	95877744	95877744	Frame_Shift_Del	T	-	p.L697fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_484840	95877734	95877928	95877744	95877744	Frame_Shift_Del	T	-	p.L696fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_484840	95877734	95877928	95877744	95877744	Frame_Shift_Del	T	-	p.L697fs
BLCA	TCGA-XF-A9SI-01	exon_skip_484838	95877734	95877918	95877773	95877773	Frame_Shift_Del	G	-	p.G706fs
BLCA	TCGA-XF-A9SI-01	exon_skip_484840	95877734	95877928	95877773	95877773	Frame_Shift_Del	G	-	p.G706fs
LIHC	TCGA-DD-A3A0-01	exon_skip_484844 exon_skip_484847	95878386	95878419	95878401	95878401	Frame_Shift_Del	T	-	p.S759fs
STAD	TCGA-CG-4305-01	exon_skip_484822	95853719	95853819	95853731	95853732	Frame_Shift_Ins	-	T	p.I344fs
STAD	TCGA-CG-4305-01	exon_skip_484822	95853719	95853819	95853732	95853733	Frame_Shift_Ins	-	T	p.I344fs
LUAD	TCGA-55-6975-01	exon_skip_484797 exon_skip_484796 exon_skip_484798	95837121	95837295	95837232	95837232	Nonsense_Mutation	T	G	p.L81*
CHOL	TCGA-ZD-A8I3-01	exon_skip_484809	95841203	95841254	95841228	95841228	Nonsense_Mutation	G	T	p.E182*
BLCA	TCGA-UY-A78K-01	exon_skip_484812 exon_skip_484813	95848752	95848859	95848812	95848812	Nonsense_Mutation	G	T	p.E272*
BLCA	TCGA-DK-A6AW-01	exon_skip_484812 exon_skip_484813	95848752	95848859	95848845	95848845	Nonsense_Mutation	G	T	p.E283*
UCEC	TCGA-AX-A05Z-01	exon_skip_484822	95853719	95853819	95853794	95853794	Nonsense_Mutation	G	T	p.E365*
UCEC	TCGA-D1-A174-01	exon_skip_484836	95869005	95869206	95869023	95869023	Nonsense_Mutation	C	T	p.Q591*
SKCM	TCGA-EE-A3AE-06	exon_skip_484836	95869005	95869206	95869077	95869077	Nonsense_Mutation	C	T	p.Q609*
SKCM	TCGA-EE-A3AE-06	exon_skip_484836	95869005	95869206	95869077	95869077	Nonsense_Mutation	C	T	p.Q609X
BRCA	TCGA-BH-A0HA-01	exon_skip_484836	95869005	95869206	95869179	95869179	Nonsense_Mutation	C	T	p.R643*
STAD	TCGA-BR-8372-01	exon_skip_484838	95877734	95877918	95877854	95877854	Nonsense_Mutation	C	T	p.R733*
STAD	TCGA-BR-8372-01	exon_skip_484840	95877734	95877928	95877854	95877854	Nonsense_Mutation	C	T	p.R733*
UCS	TCGA-ND-A4WC-01	exon_skip_484856	95884112	95884230	95884164	95884164	Nonsense_Mutation	C	T	p.R823*
UCS	TCGA-ND-A4WC-01	exon_skip_484856	95884112	95884230	95884164	95884164	Nonsense_Mutation	C	T	p.R823X
STAD	TCGA-BR-4184-01	exon_skip_484858	95886780	95886830	95886789	95886789	Nonsense_Mutation	C	T	p.R883*
UCEC	TCGA-AP-A059-01	exon_skip_484819	95850691	95850846	95850847	95850847	Splice_Site	G	A	e8+1
UCEC	TCGA-AP-A059-01	exon_skip_484821	95850722	95850846	95850847	95850847	Splice_Site	G	A	e8+1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-ND-A4WC-01
	Cancer type: UCS
	ESID: exon_skip_484856
	Skipped exon start: 95884112
	Skipped exon end: 95884230
	Mutation start: 95884164
	Mutation end: 95884164
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R823X
	Sample: TCGA-ND-A4WC-01
	Cancer type: UCS
	ESID: exon_skip_484856
	Skipped exon start: 95884112
	Skipped exon end: 95884230
	Mutation start: 95884164
	Mutation end: 95884164
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R823*
exon_skip_149665_UCS_TCGA-ND-A4WC-01.png
exon_skip_299626_UCS_TCGA-ND-A4WC-01.png
exon_skip_344918_UCS_TCGA-ND-A4WC-01.png
exon_skip_360263_UCS_TCGA-ND-A4WC-01.png
exon_skip_382353_UCS_TCGA-ND-A4WC-01.png
exon_skip_385882_UCS_TCGA-ND-A4WC-01.png
exon_skip_443509_UCS_TCGA-ND-A4WC-01.png
exon_skip_45962_UCS_TCGA-ND-A4WC-01.png
exon_skip_48320_UCS_TCGA-ND-A4WC-01.png
exon_skip_484856_UCS_TCGA-ND-A4WC-01.png
exon_skip_59444_UCS_TCGA-ND-A4WC-01.png
	Sample: TCGA-BR-8372-01
	Cancer type: STAD
	ESID: exon_skip_484838
	Skipped exon start: 95877734
	Skipped exon end: 95877918
	Mutation start: 95877854
	Mutation end: 95877854
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R733*
	Sample: TCGA-BR-8372-01
	Cancer type: STAD
	ESID: exon_skip_484840
	Skipped exon start: 95877734
	Skipped exon end: 95877928
	Mutation start: 95877854
	Mutation end: 95877854
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R733*
exon_skip_112411_STAD_TCGA-BR-8372-01.png
exon_skip_135114_STAD_TCGA-BR-8372-01.png
exon_skip_137802_STAD_TCGA-BR-8372-01.png
exon_skip_347779_STAD_TCGA-BR-8372-01.png
exon_skip_347781_STAD_TCGA-BR-8372-01.png
exon_skip_45789_STAD_TCGA-BR-8372-01.png
exon_skip_484840_STAD_TCGA-BR-8372-01.png
exon_skip_5861_STAD_TCGA-BR-8372-01.png
exon_skip_79676_STAD_TCGA-BR-8372-01.png
	Sample: TCGA-AP-A059-01
	Cancer type: UCEC
	ESID: exon_skip_484819
	Skipped exon start: 95850691
	Skipped exon end: 95850846
	Mutation start: 95850847
	Mutation end: 95850847
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: e8+1
	Sample: TCGA-AP-A059-01
	Cancer type: UCEC
	ESID: exon_skip_484821
	Skipped exon start: 95850722
	Skipped exon end: 95850846
	Mutation start: 95850847
	Mutation end: 95850847
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: e8+1
exon_skip_109805_UCEC_TCGA-AP-A059-01.png
exon_skip_115311_UCEC_TCGA-AP-A059-01.png
exon_skip_24581_UCEC_TCGA-AP-A059-01.png
exon_skip_24582_UCEC_TCGA-AP-A059-01.png
exon_skip_24584_UCEC_TCGA-AP-A059-01.png
exon_skip_288059_UCEC_TCGA-AP-A059-01.png
exon_skip_304943_UCEC_TCGA-AP-A059-01.png
exon_skip_390430_UCEC_TCGA-AP-A059-01.png
exon_skip_477308_UCEC_TCGA-AP-A059-01.png
exon_skip_479028_UCEC_TCGA-AP-A059-01.png
exon_skip_484819_UCEC_TCGA-AP-A059-01.png
exon_skip_497317_UCEC_TCGA-AP-A059-01.png
exon_skip_499703_UCEC_TCGA-AP-A059-01.png
exon_skip_512666_UCEC_TCGA-AP-A059-01.png
exon_skip_5195_UCEC_TCGA-AP-A059-01.png
exon_skip_57355_UCEC_TCGA-AP-A059-01.png
exon_skip_5754_UCEC_TCGA-AP-A059-01.png
exon_skip_71021_UCEC_TCGA-AP-A059-01.png
exon_skip_89692_UCEC_TCGA-AP-A059-01.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
NCIH524_LUNG	95853719	95853819	95853727	95853727	Frame_Shift_Del	A	-	p.I342fs
KMH2_THYROID	95837121	95837295	95837123	95837123	Missense_Mutation	C	T	p.P45S
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95837121	95837295	95837226	95837226	Missense_Mutation	G	A	p.R79H
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95839491	95839631	95839565	95839565	Missense_Mutation	A	T	p.H127L
SNU489_CENTRAL_NERVOUS_SYSTEM	95839491	95839631	95839622	95839622	Missense_Mutation	A	G	p.Y146C
CORL24_LUNG	95839950	95840021	95839972	95839972	Missense_Mutation	A	T	p.S157C
KM12_LARGE_INTESTINE	95841203	95841254	95841218	95841218	Missense_Mutation	A	T	p.Q178H
HEC108_ENDOMETRIUM	95848752	95848859	95848812	95848812	Missense_Mutation	G	A	p.E272K
JHUEM7_ENDOMETRIUM	95848752	95848859	95848828	95848828	Missense_Mutation	A	C	p.K277T
HEC151_ENDOMETRIUM	95848752	95848859	95848829	95848829	Missense_Mutation	A	T	p.K277N
BICR18_UPPER_AERODIGESTIVE_TRACT	95848752	95848859	95848851	95848851	Missense_Mutation	A	C	p.I285L
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95848752	95848859	95848854	95848854	Missense_Mutation	G	A	p.A286T
JHUEM7_ENDOMETRIUM	95850691	95850846	95850758	95850758	Missense_Mutation	A	C	p.D310A
JHUEM7_ENDOMETRIUM	95850722	95850846	95850758	95850758	Missense_Mutation	A	C	p.D310A
HT55_LARGE_INTESTINE	95850691	95850846	95850812	95850812	Missense_Mutation	A	T	p.Q328L
HT55_LARGE_INTESTINE	95850722	95850846	95850812	95850812	Missense_Mutation	A	T	p.Q328L
HEC1_ENDOMETRIUM	95854575	95854716	95854613	95854613	Missense_Mutation	C	T	p.A386V
HEC1B_ENDOMETRIUM	95854575	95854716	95854613	95854613	Missense_Mutation	C	T	p.A386V
GP2D_LARGE_INTESTINE	95854575	95854716	95854625	95854625	Missense_Mutation	T	C	p.V390A
GP5D_LARGE_INTESTINE	95854575	95854716	95854625	95854625	Missense_Mutation	T	C	p.V390A
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95854575	95854716	95854625	95854625	Missense_Mutation	T	C	p.V390A
MDAMB415_BREAST	95854575	95854716	95854708	95854708	Missense_Mutation	C	G	p.L418V
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95862144	95862319	95862175	95862175	Missense_Mutation	T	C	p.Y455H
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95862144	95862319	95862256	95862256	Missense_Mutation	A	G	p.R482G
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	95862144	95862319	95862295	95862295	Missense_Mutation	G	A	p.V495I
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95862144	95862319	95862313	95862313	Missense_Mutation	A	G	p.I501V
KMH2_THYROID	95862144	95862319	95862316	95862316	Missense_Mutation	C	G	p.P502A
KNS62_LUNG	95863781	95863914	95863838	95863838	Missense_Mutation	C	T	p.P522L
FUOV1_OVARY	95863781	95863914	95863842	95863842	Missense_Mutation	G	C	p.W523C
TGBC11TKB_STOMACH	95863781	95863914	95863847	95863847	Missense_Mutation	T	G	p.I525S
CW9019_SOFT_TISSUE	95863781	95863914	95863907	95863907	Missense_Mutation	C	T	p.S545F
NCIH2373_PLEURA	95866033	95866143	95866114	95866114	Missense_Mutation	G	A	p.A575T
EN_ENDOMETRIUM	95869005	95869206	95869177	95869177	Missense_Mutation	T	G	p.V642G
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95877734	95877918	95877870	95877870	Missense_Mutation	G	C	p.R738T
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95877734	95877928	95877870	95877870	Missense_Mutation	G	C	p.R738T
BT483_BREAST	95884112	95884230	95884120	95884120	Missense_Mutation	C	G	p.S808C
HEC251_ENDOMETRIUM	95886780	95886830	95886786	95886786	Missense_Mutation	A	C	p.K882Q
JHUEM7_ENDOMETRIUM	95886780	95886830	95886790	95886790	Missense_Mutation	G	A	p.R883Q
HEC108_ENDOMETRIUM	95888302	95888375	95888309	95888309	Missense_Mutation	T	C	p.I899T
HEC251_ENDOMETRIUM	95888302	95888375	95888329	95888329	Missense_Mutation	G	A	p.E906K
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95854575	95854716	95854715	95854715	Splice_Site	A	G	p.E420G
MZ7MEL_SKIN	95854575	95854716	95854716	95854716	Splice_Site	G	A	p.E420E
BICR18_UPPER_AERODIGESTIVE_TRACT	95863781	95863914	95863782	95863782	Splice_Site	T	C	p.A503A
CP50EBV_MATCHED_NORMAL_TISSUE	95877734	95877918	95877917	95877917	Splice_Site	C	T	p.R754W
CP50EBV_MATCHED_NORMAL_TISSUE	95877734	95877928	95877917	95877917	Splice_Site	C	T	p.R754W
CP50MELB_SKIN	95877734	95877918	95877917	95877917	Splice_Site	C	T	p.R754W
CP50MELB_SKIN	95877734	95877928	95877917	95877917	Splice_Site	C	T	p.R754W

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for INTS8

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_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	CESC	rs113338212	chr8:95878574	G/A	2.29e-06
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	COAD	rs113338212	chr8:95878574	G/A	1.89e-15
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	BLCA	rs113338212	chr8:95878574	G/A	2.42e-14
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	ESCA	rs113338212	chr8:95878574	G/A	1.27e-05
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	LAML	rs113338212	chr8:95878574	G/A	1.91e-07
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	KIRP	rs113338212	chr8:95878574	G/A	1.53e-03
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	LGG	rs113338212	chr8:95878574	G/A	1.02e-07
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	PCPG	rs113338212	chr8:95878574	G/A	5.34e-04
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	PAAD	rs113338212	chr8:95878574	G/A	2.28e-06
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	PRAD	rs113338212	chr8:95878574	G/A	5.40e-05
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	SARC	rs113338212	chr8:95878574	G/A	7.85e-15
exon_skip_484850	8	95878385:95878419:95878539:95878579:95879367:95879424	95878539:95878579	ENST00000520315.1	TGCT	rs113338212	chr8:95878574	G/A	2.48e-12
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	CESC	rs113338212	chr8:95878574	G/A	2.29e-06
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	COAD	rs113338212	chr8:95878574	G/A	1.89e-15
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	BLCA	rs113338212	chr8:95878574	G/A	2.42e-14
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	ESCA	rs113338212	chr8:95878574	G/A	1.27e-05
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	LAML	rs113338212	chr8:95878574	G/A	1.91e-07
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	KIRP	rs113338212	chr8:95878574	G/A	1.53e-03
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	LGG	rs113338212	chr8:95878574	G/A	1.02e-07
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	PCPG	rs113338212	chr8:95878574	G/A	5.34e-04
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	PAAD	rs113338212	chr8:95878574	G/A	2.28e-06
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	PRAD	rs113338212	chr8:95878574	G/A	5.40e-05
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	SARC	rs113338212	chr8:95878574	G/A	7.85e-15
exon_skip_484851	8	95878385:95878419:95878539:95878581:95879367:95879424	95878539:95878581	ENST00000343161.4	TGCT	rs113338212	chr8:95878574	G/A	2.48e-12
exon_skip_484862	8	95886779:95886830:95888301:95888375:95888448:95888513	95888301:95888375	ENST00000523731.1,ENST00000523206.1,ENST00000343161.4,ENST00000524333.1	LUAD	rs1129152	chr8:95888307	C/T	9.94e-04
exon_skip_484861	8	95885601:95885705:95888301:95888375:95888448:95888513	95888301:95888375	ENST00000447247.1,ENST00000520526.1	LUAD	rs1129152	chr8:95888307	C/T	9.94e-04
exon_skip_484838	8	95871738:95871860:95877733:95877918:95878385:95878419	95877733:95877918	ENST00000520315.1,ENST00000523731.1,ENST00000523206.1,ENST00000447247.1,ENST00000520526.1	BRCA	rs713113	chr8:95877787	C/T	1.84e-03
exon_skip_484838	8	95871738:95871860:95877733:95877918:95878385:95878419	95877733:95877918	ENST00000520315.1,ENST00000523731.1,ENST00000523206.1,ENST00000447247.1,ENST00000520526.1	LGG	rs713113	chr8:95877787	C/T	1.58e-03
exon_skip_484840	8	95871738:95871860:95877733:95877928:95878385:95878419	95877733:95877928	ENST00000343161.4,ENST00000524333.1	BRCA	rs713113	chr8:95877787	C/T	1.84e-03
exon_skip_484840	8	95871738:95871860:95877733:95877928:95878385:95878419	95877733:95877928	ENST00000343161.4,ENST00000524333.1	LGG	rs713113	chr8:95877787	C/T	1.58e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for INTS8

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for INTS8

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RelatedDrugs for INTS8

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 INTS8

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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