ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ABI3BP

Gene summary

Gene information	Gene symbol	ABI3BP
	Gene ID	25890
	Gene name	ABI family member 3 binding protein
	Synonyms	NESHBP\|TARSH
	Cytomap	3q12.2
	Type of gene	protein-coding
	Description	target of Nesh-SH3ABI family, member 3 (NESH) binding proteinABI gene family member 3-binding proteinABI gene family, member 3 (NESH) binding proteinnesh-binding protein
	Modification date	20180522
	UniProtAcc	Q7Z7G0
	Context	PubMed: ABI3BP [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Exon skipping events across known transcript of Ensembl for ABI3BP 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 ABI3BP

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 ABI3BP

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_385967	3	100473455:100473535:100484684:100484793:100489586:100489796	100484684:100484793	ENSG00000154175.12	ENST00000383691.4,ENST00000470336.1,ENST00000495591.1,ENST00000284322.5,ENST00000487012.1,ENST00000471714.1
exon_skip_385971	3	100484684:100484793:100489586:100489796:100493448:100493517	100489586:100489796	ENSG00000154175.12	ENST00000383691.4,ENST00000470336.1,ENST00000495591.1,ENST00000284322.5,ENST00000487012.1,ENST00000471714.1
exon_skip_385972	3	100489730:100489796:100493448:100493517:100494050:100494179	100493448:100493517	ENSG00000154175.12	ENST00000383691.4,ENST00000470336.1,ENST00000495591.1,ENST00000284322.5,ENST00000487012.1,ENST00000471714.1,ENST00000486770.1
exon_skip_385973	3	100498975:100499053:100506571:100506646:100508297:100508360	100506571:100506646	ENSG00000154175.12	ENST00000497395.1,ENST00000471901.1,ENST00000470336.1,ENST00000487012.1,ENST00000471714.1
exon_skip_385974	3	100498975:100499053:100508297:100508360:100513766:100513847	100508297:100508360	ENSG00000154175.12	ENST00000486770.1
exon_skip_385976	3	100508297:100508360:100511534:100511612:100513766:100513847	100511534:100511612	ENSG00000154175.12	ENST00000383691.4,ENST00000497395.1,ENST00000471901.1,ENST00000470336.1,ENST00000495591.1,ENST00000284322.5,ENST00000487012.1,ENST00000471714.1
exon_skip_385981	3	100511534:100511612:100513766:100513847:100515252:100515312	100513766:100513847	ENSG00000154175.12	ENST00000383691.4,ENST00000471901.1,ENST00000495591.1,ENST00000284322.5,ENST00000487012.1,ENST00000471714.1
exon_skip_385982	3	100513766:100513847:100514647:100514695:100515252:100515312	100514647:100514695	ENSG00000154175.12	ENST00000527943.1
exon_skip_385984	3	100513766:100513847:100515252:100515312:100523635:100523688	100515252:100515312	ENSG00000154175.12	ENST00000383691.4,ENST00000471901.1,ENST00000466947.1,ENST00000495591.1,ENST00000284322.5,ENST00000487012.1,ENST00000471714.1,ENST00000486770.1
exon_skip_385990	3	100523635:100523710:100527004:100527079:100529255:100529321	100527004:100527079	ENSG00000154175.12	ENST00000383691.4,ENST00000482765.1,ENST00000495591.1,ENST00000527943.1,ENST00000471714.1
exon_skip_385991	3	100523635:100523710:100527004:100527079:100551107:100551149	100527004:100527079	ENSG00000154175.12	ENST00000466947.1
exon_skip_385993	3	100527036:100527079:100529255:100529321:100530073:100530121	100529255:100529321	ENSG00000154175.12	ENST00000383691.4,ENST00000482765.1,ENST00000495591.1,ENST00000527943.1,ENST00000471714.1
exon_skip_386008	3	100527036:100527079:100539897:100539957:100541432:100541516	100539897:100539957	ENSG00000154175.12	ENST00000471901.1
exon_skip_386009	3	100527036:100527079:100541432:100541516:100542301:100542358	100541432:100541516	ENSG00000154175.12	ENST00000487012.1
exon_skip_386027	3	100527036:100527079:100551107:100551194:100551968:100552001	100551107:100551194	ENSG00000154175.12	ENST00000466947.1,ENST00000533795.1
exon_skip_386040	3	100530073:100530121:100530571:100530643:100531310:100531367	100530571:100530643	ENSG00000154175.12	ENST00000383691.4,ENST00000482765.1,ENST00000495591.1,ENST00000471714.1
exon_skip_386043	3	100531310:100531367:100532504:100532579:100534755:100534803	100532504:100532579	ENSG00000154175.12	ENST00000383691.4,ENST00000495591.1,ENST00000471714.1
exon_skip_386046	3	100532504:100532579:100534755:100534815:100535531:100535612	100534755:100534815	ENSG00000154175.12	ENST00000383691.4,ENST00000495591.1,ENST00000471714.1
exon_skip_386051	3	100536279:100536339:100537368:100537425:100539063:100539147	100537368:100537425	ENSG00000154175.12	ENST00000383691.4,ENST00000495063.1,ENST00000495591.1,ENST00000471714.1
exon_skip_386058	3	100537368:100537425:100539063:100539147:100539897:100539957	100539063:100539147	ENSG00000154175.12	ENST00000383691.4,ENST00000495063.1,ENST00000495591.1,ENST00000471714.1
exon_skip_386061	3	100541432:100541516:100542301:100542358:100543701:100543785	100542301:100542358	ENSG00000154175.12	ENST00000383691.4,ENST00000495063.1,ENST00000471901.1,ENST00000495591.1,ENST00000487012.1,ENST00000471714.1
exon_skip_386069	3	100542301:100542358:100543701:100543785:100551107:100551149	100543701:100543785	ENSG00000154175.12	ENST00000495063.1,ENST00000471901.1
exon_skip_386073	3	100543701:100543785:100544628:100544688:100547236:100547296	100544628:100544688	ENSG00000154175.12	ENST00000383691.4,ENST00000495591.1,ENST00000471714.1,ENST00000478235.1
exon_skip_386074	3	100543701:100543785:100544628:100544688:100548424:100548508	100544628:100544688	ENSG00000154175.12	ENST00000487012.1
exon_skip_386082	3	100544628:100544688:100547236:100547296:100548424:100548508	100547236:100547296	ENSG00000154175.12	ENST00000471714.1,ENST00000478235.1
exon_skip_386084	3	100544628:100544688:100548424:100548508:100551107:100551149	100548424:100548508	ENSG00000154175.12	ENST00000487012.1
exon_skip_386085	3	100547236:100547296:100548424:100548508:100549421:100549478	100548424:100548508	ENSG00000154175.12	ENST00000471714.1
exon_skip_386086	3	100547236:100547296:100548424:100548508:100551107:100551149	100548424:100548508	ENSG00000154175.12	ENST00000528490.1,ENST00000478235.1
exon_skip_386087	3	100547236:100547296:100549421:100549478:100551107:100551149	100549421:100549478	ENSG00000154175.12	ENST00000383691.4,ENST00000495591.1
exon_skip_386088	3	100548424:100548508:100549421:100549478:100551107:100551149	100549421:100549478	ENSG00000154175.12	ENST00000471714.1
exon_skip_386089	3	100551107:100551194:100551968:100552001:100553527:100553617	100551968:100552001	ENSG00000154175.12	ENST00000383691.4,ENST00000487249.1,ENST00000495063.1,ENST00000534413.1,ENST00000466947.1,ENST00000528490.1,ENST00000495591.1,ENST00000487012.1,ENST00000471714.1,ENST00000533795.1
exon_skip_386090	3	100551968:100552001:100553527:100553617:100554444:100554504	100553527:100553617	ENSG00000154175.12	ENST00000383691.4,ENST00000487249.1,ENST00000495063.1,ENST00000534413.1,ENST00000528490.1,ENST00000495591.1,ENST00000487012.1,ENST00000471714.1,ENST00000533795.1
exon_skip_386092	3	100551968:100552001:100553527:100553617:100565215:100565272	100553527:100553617	ENSG00000154175.12	ENST00000466947.1
exon_skip_386103	3	100553527:100553617:100554444:100554504:100555967:100556015	100554444:100554504	ENSG00000154175.12	ENST00000383691.4,ENST00000487249.1,ENST00000495063.1,ENST00000495591.1,ENST00000487012.1,ENST00000471714.1,ENST00000533795.1
exon_skip_386104	3	100553527:100553617:100554444:100554504:100558412:100558460	100554444:100554504	ENSG00000154175.12	ENST00000534413.1
exon_skip_386105	3	100553527:100553617:100554444:100554504:100565215:100565272	100554444:100554504	ENSG00000154175.12	ENST00000528490.1
exon_skip_386110	3	100554444:100554504:100555967:100556015:100557053:100557128	100555967:100556015	ENSG00000154175.12	ENST00000383691.4,ENST00000495063.1,ENST00000495591.1,ENST00000471714.1
exon_skip_386111	3	100554444:100554504:100555967:100556015:100557245:100557308	100555967:100556015	ENSG00000154175.12	ENST00000533795.1
exon_skip_386122	3	100555967:100556015:100557053:100557128:100557245:100557308	100557053:100557128	ENSG00000154175.12	ENST00000383691.4,ENST00000495063.1,ENST00000495591.1,ENST00000471714.1
exon_skip_386125	3	100555967:100556015:100557245:100557308:100558412:100558460	100557245:100557308	ENSG00000154175.12	ENST00000533795.1
exon_skip_386134	3	100557250:100557308:100558412:100558460:100559663:100559702	100558412:100558460	ENSG00000154175.12	ENST00000383691.4,ENST00000495591.1
exon_skip_386137	3	100558412:100558460:100558915:100559008:100559663:100559702	100558915:100559008	ENSG00000154175.12	ENST00000495063.1,ENST00000534256.1,ENST00000534413.1,ENST00000533855.1,ENST00000471714.1
exon_skip_386143	3	100559663:100559702:100560841:100560883:100565215:100565272	100560841:100560883	ENSG00000154175.12	ENST00000383691.4,ENST00000495063.1,ENST00000495591.1,ENST00000533855.1,ENST00000471714.1
exon_skip_386145	3	100567644:100567719:100568888:100568963:100569503:100569578	100568888:100568963	ENSG00000154175.12	ENST00000495063.1,ENST00000284322.5,ENST00000533855.1,ENST00000471714.1
exon_skip_386152	3	100568888:100568963:100569503:100569578:100581154:100581229	100569503:100569578	ENSG00000154175.12	ENST00000459682.1
exon_skip_386154	3	100569503:100569578:100570718:100570784:100581154:100581229	100570718:100570784	ENSG00000154175.12	ENST00000495063.1,ENST00000284322.5,ENST00000533855.1,ENST00000471714.1
exon_skip_386155	3	100570718:100570784:100581154:100581229:100583676:100583751	100581154:100581229	ENSG00000154175.12	ENST00000284322.5,ENST00000533855.1
exon_skip_386158	3	100581154:100581229:100581681:100581753:100582845:100582920	100581681:100581753	ENSG00000154175.12	ENST00000495063.1,ENST00000471714.1
exon_skip_386159	3	100581154:100581229:100581681:100581753:100583676:100583751	100581681:100581753	ENSG00000154175.12	ENST00000528305.1
exon_skip_386161	3	100581154:100581229:100582845:100582920:100583676:100583751	100582845:100582920	ENSG00000154175.12	ENST00000483129.1
exon_skip_386163	3	100581154:100581229:100583676:100583751:100585722:100585764	100583676:100583751	ENSG00000154175.12	ENST00000284322.5,ENST00000533855.1
exon_skip_386164	3	100581681:100581753:100582845:100582920:100583676:100583751	100582845:100582920	ENSG00000154175.12	ENST00000495063.1,ENST00000471714.1
exon_skip_386166	3	100581681:100581753:100583676:100583751:100585722:100585764	100583676:100583751	ENSG00000154175.12	ENST00000528305.1
exon_skip_386167	3	100582845:100582920:100583676:100583751:100585722:100585764	100583676:100583751	ENSG00000154175.12	ENST00000483129.1,ENST00000495063.1,ENST00000471714.1
exon_skip_386170	3	100621461:100621530:100645145:100645325:100712149:100712265	100645145:100645325	ENSG00000154175.12	ENST00000495063.1,ENST00000284322.5,ENST00000475896.1
exon_skip_386171	3	100645145:100645325:100664423:100664520:100712149:100712265	100664423:100664520	ENSG00000154175.12	ENST00000530236.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ABI3BP

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_385967	3	100473455:100473535:100484684:100484793:100489586:100489796	100484684:100484793	ENSG00000154175.12	ENST00000471714.1,ENST00000470336.1,ENST00000284322.5,ENST00000495591.1,ENST00000383691.4,ENST00000487012.1
exon_skip_385971	3	100484684:100484793:100489586:100489796:100493448:100493517	100489586:100489796	ENSG00000154175.12	ENST00000471714.1,ENST00000470336.1,ENST00000284322.5,ENST00000495591.1,ENST00000383691.4,ENST00000487012.1
exon_skip_385972	3	100489730:100489796:100493448:100493517:100494050:100494179	100493448:100493517	ENSG00000154175.12	ENST00000471714.1,ENST00000470336.1,ENST00000284322.5,ENST00000495591.1,ENST00000383691.4,ENST00000487012.1,ENST00000486770.1
exon_skip_385973	3	100498975:100499053:100506571:100506646:100508297:100508360	100506571:100506646	ENSG00000154175.12	ENST00000471714.1,ENST00000470336.1,ENST00000487012.1,ENST00000497395.1,ENST00000471901.1
exon_skip_385974	3	100498975:100499053:100508297:100508360:100513766:100513847	100508297:100508360	ENSG00000154175.12	ENST00000486770.1
exon_skip_385976	3	100508297:100508360:100511534:100511612:100513766:100513847	100511534:100511612	ENSG00000154175.12	ENST00000471714.1,ENST00000470336.1,ENST00000284322.5,ENST00000495591.1,ENST00000383691.4,ENST00000487012.1,ENST00000497395.1,ENST00000471901.1
exon_skip_385981	3	100511534:100511612:100513766:100513847:100515252:100515312	100513766:100513847	ENSG00000154175.12	ENST00000471714.1,ENST00000284322.5,ENST00000495591.1,ENST00000383691.4,ENST00000487012.1,ENST00000471901.1
exon_skip_385982	3	100513766:100513847:100514647:100514695:100515252:100515312	100514647:100514695	ENSG00000154175.12	ENST00000527943.1
exon_skip_385984	3	100513766:100513847:100515252:100515312:100523635:100523688	100515252:100515312	ENSG00000154175.12	ENST00000471714.1,ENST00000284322.5,ENST00000495591.1,ENST00000383691.4,ENST00000487012.1,ENST00000486770.1,ENST00000471901.1,ENST00000466947.1
exon_skip_385990	3	100523635:100523710:100527004:100527079:100529255:100529321	100527004:100527079	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000527943.1,ENST00000482765.1
exon_skip_385991	3	100523635:100523710:100527004:100527079:100551107:100551149	100527004:100527079	ENSG00000154175.12	ENST00000466947.1
exon_skip_385993	3	100527036:100527079:100529255:100529321:100530073:100530121	100529255:100529321	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000527943.1,ENST00000482765.1
exon_skip_386008	3	100527036:100527079:100539897:100539957:100541432:100541516	100539897:100539957	ENSG00000154175.12	ENST00000471901.1
exon_skip_386009	3	100527036:100527079:100541432:100541516:100542301:100542358	100541432:100541516	ENSG00000154175.12	ENST00000487012.1
exon_skip_386027	3	100527036:100527079:100551107:100551194:100551968:100552001	100551107:100551194	ENSG00000154175.12	ENST00000466947.1,ENST00000533795.1
exon_skip_386040	3	100530073:100530121:100530571:100530643:100531310:100531367	100530571:100530643	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000482765.1
exon_skip_386043	3	100531310:100531367:100532504:100532579:100534755:100534803	100532504:100532579	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4
exon_skip_386046	3	100532504:100532579:100534755:100534815:100535531:100535612	100534755:100534815	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4
exon_skip_386051	3	100536279:100536339:100537368:100537425:100539063:100539147	100537368:100537425	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000495063.1
exon_skip_386058	3	100537368:100537425:100539063:100539147:100539897:100539957	100539063:100539147	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000495063.1
exon_skip_386061	3	100541432:100541516:100542301:100542358:100543701:100543785	100542301:100542358	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000487012.1,ENST00000471901.1,ENST00000495063.1
exon_skip_386069	3	100542301:100542358:100543701:100543785:100551107:100551149	100543701:100543785	ENSG00000154175.12	ENST00000471901.1,ENST00000495063.1
exon_skip_386073	3	100543701:100543785:100544628:100544688:100547236:100547296	100544628:100544688	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000478235.1
exon_skip_386074	3	100543701:100543785:100544628:100544688:100548424:100548508	100544628:100544688	ENSG00000154175.12	ENST00000487012.1
exon_skip_386082	3	100544628:100544688:100547236:100547296:100548424:100548508	100547236:100547296	ENSG00000154175.12	ENST00000471714.1,ENST00000478235.1
exon_skip_386084	3	100544628:100544688:100548424:100548508:100551107:100551149	100548424:100548508	ENSG00000154175.12	ENST00000487012.1
exon_skip_386085	3	100547236:100547296:100548424:100548508:100549421:100549478	100548424:100548508	ENSG00000154175.12	ENST00000471714.1
exon_skip_386086	3	100547236:100547296:100548424:100548508:100551107:100551149	100548424:100548508	ENSG00000154175.12	ENST00000478235.1,ENST00000528490.1
exon_skip_386087	3	100547236:100547296:100549421:100549478:100551107:100551149	100549421:100549478	ENSG00000154175.12	ENST00000495591.1,ENST00000383691.4
exon_skip_386088	3	100548424:100548508:100549421:100549478:100551107:100551149	100549421:100549478	ENSG00000154175.12	ENST00000471714.1
exon_skip_386089	3	100551107:100551194:100551968:100552001:100553527:100553617	100551968:100552001	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000487012.1,ENST00000466947.1,ENST00000533795.1,ENST00000495063.1,ENST00000528490.1,ENST00000487249.1,ENST00000534413.1
exon_skip_386090	3	100551968:100552001:100553527:100553617:100554444:100554504	100553527:100553617	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000487012.1,ENST00000533795.1,ENST00000495063.1,ENST00000528490.1,ENST00000487249.1,ENST00000534413.1
exon_skip_386092	3	100551968:100552001:100553527:100553617:100565215:100565272	100553527:100553617	ENSG00000154175.12	ENST00000466947.1
exon_skip_386103	3	100553527:100553617:100554444:100554504:100555967:100556015	100554444:100554504	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000487012.1,ENST00000533795.1,ENST00000495063.1,ENST00000487249.1
exon_skip_386104	3	100553527:100553617:100554444:100554504:100558412:100558460	100554444:100554504	ENSG00000154175.12	ENST00000534413.1
exon_skip_386105	3	100553527:100553617:100554444:100554504:100565215:100565272	100554444:100554504	ENSG00000154175.12	ENST00000528490.1
exon_skip_386110	3	100554444:100554504:100555967:100556015:100557053:100557128	100555967:100556015	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000495063.1
exon_skip_386111	3	100554444:100554504:100555967:100556015:100557245:100557308	100555967:100556015	ENSG00000154175.12	ENST00000533795.1
exon_skip_386122	3	100555967:100556015:100557053:100557128:100557245:100557308	100557053:100557128	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000495063.1
exon_skip_386125	3	100555967:100556015:100557245:100557308:100558412:100558460	100557245:100557308	ENSG00000154175.12	ENST00000533795.1
exon_skip_386134	3	100557250:100557308:100558412:100558460:100559663:100559702	100558412:100558460	ENSG00000154175.12	ENST00000495591.1,ENST00000383691.4
exon_skip_386137	3	100558412:100558460:100558915:100559008:100559663:100559702	100558915:100559008	ENSG00000154175.12	ENST00000471714.1,ENST00000495063.1,ENST00000534413.1,ENST00000534256.1,ENST00000533855.1
exon_skip_386143	3	100559663:100559702:100560841:100560883:100565215:100565272	100560841:100560883	ENSG00000154175.12	ENST00000471714.1,ENST00000495591.1,ENST00000383691.4,ENST00000495063.1,ENST00000533855.1
exon_skip_386145	3	100567644:100567719:100568888:100568963:100569503:100569578	100568888:100568963	ENSG00000154175.12	ENST00000471714.1,ENST00000284322.5,ENST00000495063.1,ENST00000533855.1
exon_skip_386152	3	100568888:100568963:100569503:100569578:100581154:100581229	100569503:100569578	ENSG00000154175.12	ENST00000459682.1
exon_skip_386154	3	100569503:100569578:100570718:100570784:100581154:100581229	100570718:100570784	ENSG00000154175.12	ENST00000471714.1,ENST00000284322.5,ENST00000495063.1,ENST00000533855.1
exon_skip_386155	3	100570718:100570784:100581154:100581229:100583676:100583751	100581154:100581229	ENSG00000154175.12	ENST00000284322.5,ENST00000533855.1
exon_skip_386158	3	100581154:100581229:100581681:100581753:100582845:100582920	100581681:100581753	ENSG00000154175.12	ENST00000471714.1,ENST00000495063.1
exon_skip_386159	3	100581154:100581229:100581681:100581753:100583676:100583751	100581681:100581753	ENSG00000154175.12	ENST00000528305.1
exon_skip_386161	3	100581154:100581229:100582845:100582920:100583676:100583751	100582845:100582920	ENSG00000154175.12	ENST00000483129.1
exon_skip_386163	3	100581154:100581229:100583676:100583751:100585722:100585764	100583676:100583751	ENSG00000154175.12	ENST00000284322.5,ENST00000533855.1
exon_skip_386164	3	100581681:100581753:100582845:100582920:100583676:100583751	100582845:100582920	ENSG00000154175.12	ENST00000471714.1,ENST00000495063.1
exon_skip_386166	3	100581681:100581753:100583676:100583751:100585722:100585764	100583676:100583751	ENSG00000154175.12	ENST00000528305.1
exon_skip_386167	3	100582845:100582920:100583676:100583751:100585722:100585764	100583676:100583751	ENSG00000154175.12	ENST00000471714.1,ENST00000495063.1,ENST00000483129.1
exon_skip_386170	3	100621461:100621530:100645145:100645325:100712149:100712265	100645145:100645325	ENSG00000154175.12	ENST00000284322.5,ENST00000495063.1,ENST00000475896.1
exon_skip_386171	3	100645145:100645325:100664423:100664520:100712149:100712265	100664423:100664520	ENSG00000154175.12	ENST00000530236.1

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 ABI3BP

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
ENST00000284322	100484684	100484793	Frame-shift
ENST00000284322	100489586	100489796	In-frame
ENST00000284322	100493448	100493517	In-frame
ENST00000284322	100511534	100511612	In-frame
ENST00000284322	100513766	100513847	In-frame
ENST00000284322	100515252	100515312	In-frame
ENST00000284322	100568888	100568963	In-frame
ENST00000284322	100570718	100570784	In-frame
ENST00000284322	100581154	100581229	In-frame
ENST00000284322	100583676	100583751	In-frame
ENST00000284322	100645145	100645325	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
ENST00000284322	100484684	100484793	Frame-shift
ENST00000284322	100489586	100489796	In-frame
ENST00000284322	100493448	100493517	In-frame
ENST00000284322	100511534	100511612	In-frame
ENST00000284322	100513766	100513847	In-frame
ENST00000284322	100515252	100515312	In-frame
ENST00000284322	100568888	100568963	In-frame
ENST00000284322	100570718	100570784	In-frame
ENST00000284322	100581154	100581229	In-frame
ENST00000284322	100583676	100583751	In-frame
ENST00000284322	100645145	100645325	In-frame

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Infer the effects of exon skipping event on protein functional features for ABI3BP

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
ENST00000284322	4515	1075	100645145	100645325	211	390	33	93
ENST00000284322	4515	1075	100583676	100583751	1120	1194	336	361
ENST00000284322	4515	1075	100581154	100581229	1195	1269	361	386
ENST00000284322	4515	1075	100570718	100570784	1270	1335	386	408
ENST00000284322	4515	1075	100568888	100568963	1411	1485	433	458
ENST00000284322	4515	1075	100515252	100515312	1858	1917	582	602
ENST00000284322	4515	1075	100513766	100513847	1918	1998	602	629
ENST00000284322	4515	1075	100511534	100511612	1999	2076	629	655
ENST00000284322	4515	1075	100493448	100493517	2440	2508	776	799
ENST00000284322	4515	1075	100489586	100489796	2509	2718	799	869

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
ENST00000284322	4515	1075	100645145	100645325	211	390	33	93
ENST00000284322	4515	1075	100583676	100583751	1120	1194	336	361
ENST00000284322	4515	1075	100581154	100581229	1195	1269	361	386
ENST00000284322	4515	1075	100570718	100570784	1270	1335	386	408
ENST00000284322	4515	1075	100568888	100568963	1411	1485	433	458
ENST00000284322	4515	1075	100515252	100515312	1858	1917	582	602
ENST00000284322	4515	1075	100513766	100513847	1918	1998	602	629
ENST00000284322	4515	1075	100511534	100511612	1999	2076	629	655
ENST00000284322	4515	1075	100493448	100493517	2440	2508	776	799
ENST00000284322	4515	1075	100489586	100489796	2509	2718	799	869

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
Q7Z7G0	33	93	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	33	93	1	316	Alternative sequence	ID=VSP_010862;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q7Z7G0	33	93	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	33	93	44	44	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
Q7Z7G0	336	361	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	336	361	317	530	Alternative sequence	ID=VSP_010865;Note=In isoform 4. ALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSALDVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDRILDSIPPKTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHT->MTIVPT
Q7Z7G0	336	361	317	446	Alternative sequence	ID=VSP_010863;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q7Z7G0	336	361	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	361	386	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	361	386	317	530	Alternative sequence	ID=VSP_010865;Note=In isoform 4. ALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSALDVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDRILDSIPPKTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHT->MTIVPT
Q7Z7G0	361	386	317	446	Alternative sequence	ID=VSP_010863;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q7Z7G0	361	386	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	386	408	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	386	408	317	530	Alternative sequence	ID=VSP_010865;Note=In isoform 4. ALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSALDVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDRILDSIPPKTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHT->MTIVPT
Q7Z7G0	386	408	317	446	Alternative sequence	ID=VSP_010863;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q7Z7G0	386	408	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	433	458	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	433	458	317	530	Alternative sequence	ID=VSP_010865;Note=In isoform 4. ALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSALDVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDRILDSIPPKTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHT->MTIVPT
Q7Z7G0	433	458	317	446	Alternative sequence	ID=VSP_010863;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q7Z7G0	433	458	447	531	Alternative sequence	ID=VSP_010864;Note=In isoform 3. IFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHTK->MTESLPVSDVLESVTLSTESPKETIAPAKTDYVYPTAKAPLWPEEPKTEVVESITYVSEPPETTLETSPLPSQSITLPSPDEPQTE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|P
Q7Z7G0	433	458	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	433	458	419	756	Compositional bias	Note=Pro-rich
Q7Z7G0	582	602	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	582	602	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	582	602	419	756	Compositional bias	Note=Pro-rich
Q7Z7G0	602	629	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	602	629	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	602	629	419	756	Compositional bias	Note=Pro-rich
Q7Z7G0	629	655	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	629	655	419	756	Compositional bias	Note=Pro-rich
Q7Z7G0	776	799	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	799	869	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	799	869	840	933	Domain	Note=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316

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
Q7Z7G0	33	93	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	33	93	1	316	Alternative sequence	ID=VSP_010862;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q7Z7G0	33	93	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	33	93	44	44	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
Q7Z7G0	336	361	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	336	361	317	530	Alternative sequence	ID=VSP_010865;Note=In isoform 4. ALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSALDVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDRILDSIPPKTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHT->MTIVPT
Q7Z7G0	336	361	317	446	Alternative sequence	ID=VSP_010863;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q7Z7G0	336	361	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	361	386	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	361	386	317	530	Alternative sequence	ID=VSP_010865;Note=In isoform 4. ALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSALDVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDRILDSIPPKTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHT->MTIVPT
Q7Z7G0	361	386	317	446	Alternative sequence	ID=VSP_010863;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q7Z7G0	361	386	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	386	408	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	386	408	317	530	Alternative sequence	ID=VSP_010865;Note=In isoform 4. ALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSALDVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDRILDSIPPKTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHT->MTIVPT
Q7Z7G0	386	408	317	446	Alternative sequence	ID=VSP_010863;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q7Z7G0	386	408	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	433	458	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	433	458	317	530	Alternative sequence	ID=VSP_010865;Note=In isoform 4. ALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSALDVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDRILDSIPPKTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHT->MTIVPT
Q7Z7G0	433	458	317	446	Alternative sequence	ID=VSP_010863;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q7Z7G0	433	458	447	531	Alternative sequence	ID=VSP_010864;Note=In isoform 3. IFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHTK->MTESLPVSDVLESVTLSTESPKETIAPAKTDYVYPTAKAPLWPEEPKTEVVESITYVSEPPETTLETSPLPSQSITLPSPDEPQTE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|P
Q7Z7G0	433	458	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	433	458	419	756	Compositional bias	Note=Pro-rich
Q7Z7G0	582	602	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	582	602	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	582	602	419	756	Compositional bias	Note=Pro-rich
Q7Z7G0	602	629	1	614	Alternative sequence	ID=VSP_010860;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11501947,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11501947,PMID:14702039
Q7Z7G0	602	629	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	602	629	419	756	Compositional bias	Note=Pro-rich
Q7Z7G0	629	655	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	629	655	419	756	Compositional bias	Note=Pro-rich
Q7Z7G0	776	799	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	799	869	29	1075	Chain	ID=PRO_0000022472;Note=Target of Nesh-SH3
Q7Z7G0	799	869	840	933	Domain	Note=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316

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SNVs in the skipped exons for ABI3BP

- 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_385967	100484685	100484793	100484696	100484696	Frame_Shift_Del	T	-	p.K1604fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_385967	100484685	100484793	100484696	100484696	Frame_Shift_Del	T	-	p.K1604fs
LIHC	TCGA-DD-A1EG-01	exon_skip_385971	100489587	100489796	100489601	100489601	Frame_Shift_Del	T	-	p.N1567fs
LIHC	TCGA-DD-A39Y-01	exon_skip_385972	100493449	100493517	100493465	100493465	Frame_Shift_Del	C	-	p.G1496fs
HNSC	TCGA-BB-A5HZ-01	exon_skip_385981	100513767	100513847	100513802	100513802	Frame_Shift_Del	G	-	p.P1295fs
LIHC	TCGA-DD-A3A0-01	exon_skip_385981	100513767	100513847	100513802	100513802	Frame_Shift_Del	G	-	p.P1295fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_385981	100513767	100513847	100513802	100513802	Frame_Shift_Del	G	-	p.P1295fs
LIHC	TCGA-DD-A39Y-01	exon_skip_386145	100568889	100568963	100568932	100568932	Frame_Shift_Del	T	-	p.K493fs
STAD	TCGA-CD-A4MG-01	exon_skip_386152	100569504	100569578	100569540	100569540	Frame_Shift_Del	T	-	p.T422fs
LIHC	TCGA-DD-A39Y-01	exon_skip_386155	100581155	100581229	100581191	100581191	Frame_Shift_Del	T	-	p.I424fs
LIHC	TCGA-DD-A39Y-01	exon_skip_386155	100581155	100581229	100581217	100581217	Frame_Shift_Del	T	-	p.K415fs
UCEC	TCGA-A5-A0GW-01	exon_skip_385981	100513767	100513847	100513801	100513802	Frame_Shift_Ins	-	G	p.P618fs
UCEC	TCGA-D1-A17Q-01	exon_skip_385991 exon_skip_385990	100527005	100527079	100527025	100527025	Nonsense_Mutation	C	A	p.E607*
SKCM	TCGA-ER-A19P-06	exon_skip_386154	100570719	100570784	100570746	100570746	Nonsense_Mutation	C	A	p.E449*
LUSC	TCGA-51-4079-01	exon_skip_386154	100570719	100570784	100570766	100570766	Nonsense_Mutation	G	C	p.S393*
LUAD	TCGA-38-4631-01	exon_skip_386170	100645146	100645325	100645145	100645145	Splice_Site	C	-	p.D94_splice

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

Depth of coverage in three exons

Mutation description

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

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
KM12_LARGE_INTESTINE	100645146	100645325	100645177	100645177	Frame_Shift_Del	G	-	p.P83fs
MS751_CERVIX	100484685	100484793	100484760	100484760	Missense_Mutation	A	G	p.F881S
PACADD137_PANCREAS	100484685	100484793	100484781	100484781	Missense_Mutation	A	G	p.I874T
HEC1A_ENDOMETRIUM	100489587	100489796	100489677	100489677	Missense_Mutation	G	T	p.P840T
HEC1_ENDOMETRIUM	100489587	100489796	100489677	100489677	Missense_Mutation	G	T	p.P840T
D341MED_CENTRAL_NERVOUS_SYSTEM	100489587	100489796	100489697	100489697	Missense_Mutation	G	A	p.A833V
SNU175_LARGE_INTESTINE	100489587	100489796	100489782	100489782	Missense_Mutation	A	T	p.Y805N
SW684_SOFT_TISSUE	100489587	100489796	100489784	100489784	Missense_Mutation	C	T	p.R804Q
QGP1_PANCREAS	100508298	100508360	100508300	100508300	Missense_Mutation	G	T	p.P676H
OMC1_CERVIX	100508298	100508360	100508342	100508342	Missense_Mutation	G	T	p.T662N
HEC108_ENDOMETRIUM	100511535	100511612	100511564	100511564	Missense_Mutation	C	T	p.R646Q
GOTO_AUTONOMIC_GANGLIA	100511535	100511612	100511564	100511564	Missense_Mutation	C	T	p.R646Q
LS411N_LARGE_INTESTINE	100511535	100511612	100511601	100511601	Missense_Mutation	G	T	p.Q634K
HCT15_LARGE_INTESTINE	100511535	100511612	100511604	100511604	Missense_Mutation	C	T	p.D633N
LOUNH91_LUNG	100515253	100515312	100515280	100515280	Missense_Mutation	A	G	p.Y594H
TE14_OESOPHAGUS	100527005	100527079	100527019	100527019	Missense_Mutation	G	C	p.P553R
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100527005	100527079	100527034	100527034	Missense_Mutation	G	T	p.P548Q
CALU3_LUNG	100527005	100527079	100527035	100527035	Missense_Mutation	G	A	p.P548S
JHH5_LIVER	100527005	100527079	100527040	100527040	Missense_Mutation	G	A	p.T546I
HCT15_LARGE_INTESTINE	100568889	100568963	100568915	100568915	Missense_Mutation	C	A	p.S450I
NCIH1648_LUNG	100568889	100568963	100568918	100568918	Missense_Mutation	G	T	p.T449N
SNU81_LARGE_INTESTINE	100569504	100569578	100569536	100569536	Missense_Mutation	G	T	p.S423Y
LOXIMVI_SKIN	100569504	100569578	100569548	100569548	Missense_Mutation	G	A	p.P419L
GP2D_LARGE_INTESTINE	100570719	100570784	100570775	100570775	Missense_Mutation	T	C	p.D390G
KURAMOCHI_OVARY	100645146	100645325	100645164	100645164	Missense_Mutation	A	G	p.F88L
UMUC5_URINARY_TRACT	100645146	100645325	100645182	100645182	Missense_Mutation	G	A	p.L82F
HEC108_ENDOMETRIUM	100645146	100645325	100645200	100645201	Missense_Mutation	GT	AC	p.P76S
EPLC272H_LUNG	100645146	100645325	100645208	100645208	Missense_Mutation	T	A	p.N73I
RPMI7951_SKIN	100645146	100645325	100645221	100645221	Missense_Mutation	C	T	p.G69R
2313287_STOMACH	100489587	100489796	100489785	100489785	Nonsense_Mutation	G	A	p.R804*
SW982_SOFT_TISSUE	100581155	100581229	100581211	100581211	Nonsense_Mutation	C	T	p.W368*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABI3BP

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 ABI3BP

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABI3BP

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RelatedDrugs for ABI3BP

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 ABI3BP

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ABI3BP	C0014175	Endometriosis	1	CTD_human
ABI3BP	C0041696	Unipolar Depression	1	PSYGENET
ABI3BP	C1269683	Major Depressive Disorder	1	PSYGENET

	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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