ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TOP3B

Gene summary

Gene information	Gene symbol	TOP3B
	Gene ID	8940
	Gene name	DNA topoisomerase III beta
	Synonyms	TOP3B1
	Cytomap	22q11.22
	Type of gene	protein-coding
	Description	DNA topoisomerase 3-beta-1DNA topoisomerase III beta-1topoisomerase (DNA) III betatopoisomerase III beta
	Modification date	20180523
	UniProtAcc	O95985
	Context	PubMed: TOP3B [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 TOP3B 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 TOP3B

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 TOP3B

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_367792	22	22312863:22313065:22313503:22313604:22313958:22314108	22313503:22313604	ENSG00000100038.15	ENST00000457179.1,ENST00000357179.5,ENST00000436282.1,ENST00000457270.1,ENST00000398793.2
exon_skip_367795	22	22313503:22313604:22313958:22314108:22314692:22314821	22313958:22314108	ENSG00000100038.15	ENST00000457179.1,ENST00000357179.5,ENST00000436282.1,ENST00000457270.1,ENST00000398793.2
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENSG00000100038.15	ENST00000413067.2
exon_skip_367798	22	22314692:22314821:22316800:22316974:22317118:22317265	22316800:22316974	ENSG00000100038.15	ENST00000444502.1,ENST00000357179.5,ENST00000436282.1,ENST00000457270.1,ENST00000398793.2
exon_skip_367799	22	22319656:22319747:22321974:22322088:22322990:22323112	22321974:22322088	ENSG00000100038.15	ENST00000413067.2,ENST00000444502.1,ENST00000457179.1,ENST00000357179.5,ENST00000457270.1,ENST00000398793.2
exon_skip_367802	22	22321974:22322088:22322990:22323147:22324581:22324778	22322990:22323147	ENSG00000100038.15	ENST00000444502.1,ENST00000457179.1,ENST00000357179.5,ENST00000398793.2
exon_skip_367805	22	22322990:22323147:22324581:22324778:22325351:22325433	22324581:22324778	ENSG00000100038.15	ENST00000444502.1,ENST00000457179.1
exon_skip_367806	22	22322990:22323147:22324581:22324778:22326248:22326323	22324581:22324778	ENSG00000100038.15	ENST00000357179.5,ENST00000424393.1,ENST00000398793.2
exon_skip_367810	22	22324706:22324778:22325351:22325433:22326248:22326323	22325351:22325433	ENSG00000100038.15	ENST00000444502.1,ENST00000457179.1
exon_skip_367811	22	22324706:22324778:22326248:22326323:22326983:22327090	22326248:22326323	ENSG00000100038.15	ENST00000357179.5,ENST00000424393.1,ENST00000398793.2
exon_skip_367821	22	22330017:22330179:22330276:22330325:22337126:22337163	22330276:22330325	ENSG00000100038.15	ENST00000437929.1
exon_skip_367823	22	22330017:22330179:22330276:22330559:22337126:22337163	22330276:22330559	ENSG00000100038.15	ENST00000437103.1
exon_skip_367824	22	22330017:22330179:22330352:22330559:22336810:22336846	22330352:22330559	ENSG00000100038.15	ENST00000456075.1
exon_skip_367825	22	22330017:22330179:22330352:22330559:22337126:22337163	22330352:22330559	ENSG00000100038.15	ENST00000449704.1
exon_skip_367826	22	22330017:22330179:22336810:22336846:22337126:22337163	22336810:22336846	ENSG00000100038.15	ENST00000430142.1
exon_skip_367828	22	22330352:22330559:22336810:22336846:22337126:22337163	22336810:22336846	ENSG00000100038.15	ENST00000456075.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TOP3B

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_367792	22	22312863:22313065:22313503:22313604:22313958:22314108	22313503:22313604	ENSG00000100038.15	ENST00000357179.5,ENST00000457270.1,ENST00000457179.1,ENST00000398793.2,ENST00000436282.1
exon_skip_367795	22	22313503:22313604:22313958:22314108:22314692:22314821	22313958:22314108	ENSG00000100038.15	ENST00000357179.5,ENST00000457270.1,ENST00000457179.1,ENST00000398793.2,ENST00000436282.1
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENSG00000100038.15	ENST00000413067.2
exon_skip_367798	22	22314692:22314821:22316800:22316974:22317118:22317265	22316800:22316974	ENSG00000100038.15	ENST00000357179.5,ENST00000457270.1,ENST00000398793.2,ENST00000444502.1,ENST00000436282.1
exon_skip_367799	22	22319656:22319747:22321974:22322088:22322990:22323112	22321974:22322088	ENSG00000100038.15	ENST00000357179.5,ENST00000457270.1,ENST00000457179.1,ENST00000398793.2,ENST00000444502.1,ENST00000413067.2
exon_skip_367802	22	22321974:22322088:22322990:22323147:22324581:22324778	22322990:22323147	ENSG00000100038.15	ENST00000357179.5,ENST00000457179.1,ENST00000398793.2,ENST00000444502.1
exon_skip_367805	22	22322990:22323147:22324581:22324778:22325351:22325433	22324581:22324778	ENSG00000100038.15	ENST00000457179.1,ENST00000444502.1
exon_skip_367806	22	22322990:22323147:22324581:22324778:22326248:22326323	22324581:22324778	ENSG00000100038.15	ENST00000357179.5,ENST00000398793.2,ENST00000424393.1
exon_skip_367810	22	22324706:22324778:22325351:22325433:22326248:22326323	22325351:22325433	ENSG00000100038.15	ENST00000457179.1,ENST00000444502.1
exon_skip_367811	22	22324706:22324778:22326248:22326323:22326983:22327090	22326248:22326323	ENSG00000100038.15	ENST00000357179.5,ENST00000398793.2,ENST00000424393.1
exon_skip_367821	22	22330017:22330179:22330276:22330325:22337126:22337163	22330276:22330325	ENSG00000100038.15	ENST00000437929.1
exon_skip_367823	22	22330017:22330179:22330276:22330559:22337126:22337163	22330276:22330559	ENSG00000100038.15	ENST00000437103.1
exon_skip_367824	22	22330017:22330179:22330352:22330559:22336810:22336846	22330352:22330559	ENSG00000100038.15	ENST00000456075.1
exon_skip_367825	22	22330017:22330179:22330352:22330559:22337126:22337163	22330352:22330559	ENSG00000100038.15	ENST00000449704.1
exon_skip_367826	22	22330017:22330179:22336810:22336846:22337126:22337163	22336810:22336846	ENSG00000100038.15	ENST00000430142.1
exon_skip_367828	22	22330352:22330559:22336810:22336846:22337126:22337163	22336810:22336846	ENSG00000100038.15	ENST00000456075.1

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 TOP3B

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
ENST00000357179	22313503	22313604	Frame-shift
ENST00000398793	22313503	22313604	Frame-shift
ENST00000357179	22322990	22323147	Frame-shift
ENST00000398793	22322990	22323147	Frame-shift
ENST00000357179	22324581	22324778	Frame-shift
ENST00000398793	22324581	22324778	Frame-shift
ENST00000357179	22313958	22314108	In-frame
ENST00000398793	22313958	22314108	In-frame
ENST00000357179	22316800	22316974	In-frame
ENST00000398793	22316800	22316974	In-frame
ENST00000357179	22321974	22322088	In-frame
ENST00000398793	22321974	22322088	In-frame
ENST00000357179	22326248	22326323	In-frame
ENST00000398793	22326248	22326323	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
ENST00000357179	22313503	22313604	Frame-shift
ENST00000398793	22313503	22313604	Frame-shift
ENST00000357179	22322990	22323147	Frame-shift
ENST00000398793	22322990	22323147	Frame-shift
ENST00000357179	22324581	22324778	Frame-shift
ENST00000398793	22324581	22324778	Frame-shift
ENST00000357179	22313958	22314108	In-frame
ENST00000398793	22313958	22314108	In-frame
ENST00000357179	22316800	22316974	In-frame
ENST00000398793	22316800	22316974	In-frame
ENST00000357179	22321974	22322088	In-frame
ENST00000398793	22321974	22322088	In-frame
ENST00000357179	22326248	22326323	In-frame
ENST00000398793	22326248	22326323	In-frame

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Infer the effects of exon skipping event on protein functional features for TOP3B

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
ENST00000357179	2880	862	22326248	22326323	495	569	103	128
ENST00000398793	3124	862	22326248	22326323	745	819	103	128
ENST00000357179	2880	862	22321974	22322088	924	1037	246	284
ENST00000398793	3124	862	22321974	22322088	1174	1287	246	284
ENST00000357179	2880	862	22316800	22316974	1537	1710	450	508
ENST00000398793	3124	862	22316800	22316974	1787	1960	450	508
ENST00000357179	2880	862	22313958	22314108	1840	1989	551	601
ENST00000398793	3124	862	22313958	22314108	2090	2239	551	601

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
ENST00000357179	2880	862	22326248	22326323	495	569	103	128
ENST00000398793	3124	862	22326248	22326323	745	819	103	128
ENST00000357179	2880	862	22321974	22322088	924	1037	246	284
ENST00000398793	3124	862	22321974	22322088	1174	1287	246	284
ENST00000357179	2880	862	22316800	22316974	1537	1710	450	508
ENST00000398793	3124	862	22316800	22316974	1787	1960	450	508
ENST00000357179	2880	862	22313958	22314108	1840	1989	551	601
ENST00000398793	3124	862	22313958	22314108	2090	2239	551	601

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
O95985	103	128	110	115	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	103	128	110	115	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	103	128	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	103	128	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	103	128	3	153	Domain	Note=Toprim;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00995
O95985	103	128	3	153	Domain	Note=Toprim;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00995
O95985	103	128	98	106	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	103	128	98	106	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	103	128	120	133	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	103	128	120	133	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	239	248	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	239	248	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	254	259	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	254	259	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	282	295	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	282	295	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	246	284	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	246	284	267	275	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	267	275	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	276	279	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	276	279	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	475	487	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	475	487	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	450	508	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	450	508	451	454	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	451	454	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	457	459	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	457	459	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	496	505	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	496	505	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	551	601	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	551	601	539	551	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	539	551	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	553	555	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	553	555	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	559	572	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	559	572	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	578	598	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	578	598	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	601	610	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	601	610	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC

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
O95985	103	128	110	115	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	103	128	110	115	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	103	128	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	103	128	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	103	128	3	153	Domain	Note=Toprim;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00995
O95985	103	128	3	153	Domain	Note=Toprim;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00995
O95985	103	128	98	106	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	103	128	98	106	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	103	128	120	133	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	103	128	120	133	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	239	248	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	239	248	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	254	259	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	254	259	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	282	295	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	282	295	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	246	284	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	246	284	267	275	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	267	275	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	276	279	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	246	284	276	279	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	475	487	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	475	487	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	450	508	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	450	508	451	454	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	451	454	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	457	459	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	457	459	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	496	505	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	450	508	496	505	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	551	601	1	862	Chain	ID=PRO_0000145192;Note=DNA topoisomerase 3-beta-1
O95985	551	601	539	551	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	539	551	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	553	555	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	553	555	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	559	572	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	559	572	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	578	598	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	578	598	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	601	610	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC
O95985	551	601	601	610	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GVC

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SNVs in the skipped exons for TOP3B

- 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
STAD	TCGA-BR-A4CS-01	exon_skip_367802	22322991	22323147	22323012	22323012	Frame_Shift_Del	G	-	p.Y240fs
SKCM	TCGA-D9-A6EC-06	exon_skip_367802	22322991	22323147	22323143	22323143	Nonsense_Mutation	G	A	p.Q196*
SKCM	TCGA-D9-A6EC-06	exon_skip_367802	22322991	22323147	22323143	22323143	Nonsense_Mutation	G	A	p.Q196X
CESC	TCGA-IR-A3LA-01	exon_skip_367795	22313959	22314108	22314109	22314109	Splice_Site	C	G	e14-1
LUSC	TCGA-21-5782-01	exon_skip_367799	22321975	22322088	22322090	22322090	Splice_Site	T	C	p.V247_splice
LGG	TCGA-HT-7608-01	exon_skip_367802	22322991	22323147	22322990	22322990	Splice_Site	C	A	.

- 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
SNU1040_LARGE_INTESTINE	22321975	22322088	22322057	22322057	Frame_Shift_Del	A	-	p.L257fs
HEC1A_ENDOMETRIUM	22313504	22313604	22313542	22313542	Missense_Mutation	G	A	p.R623C
HEC1_ENDOMETRIUM	22313504	22313604	22313542	22313542	Missense_Mutation	G	A	p.R623C
HEC1B_ENDOMETRIUM	22313504	22313604	22313542	22313542	Missense_Mutation	G	A	p.R623C
DJM1_SKIN	22313959	22314108	22314004	22314004	Missense_Mutation	C	T	p.D587N
LNCAPCLONEFGC_PROSTATE	22316801	22316974	22316863	22316863	Missense_Mutation	G	A	p.T488M
LNCAPCLONEFGC_PROSTATE	22316500	22316974	22316863	22316863	Missense_Mutation	G	A	p.T488M
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	22321975	22322088	22322014	22322014	Missense_Mutation	C	G	p.Q271H
TFK1_BILIARY_TRACT	22321975	22322088	22322037	22322037	Missense_Mutation	C	G	p.V264L
KYSE30_OESOPHAGUS	22321975	22322088	22322037	22322037	Missense_Mutation	C	G	p.V264L
SNGM_ENDOMETRIUM	22321975	22322088	22322037	22322037	Missense_Mutation	C	G	p.V264L
NH12_AUTONOMIC_GANGLIA	22321975	22322088	22322037	22322037	Missense_Mutation	C	G	p.V264L
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	22324582	22324778	22324681	22324681	Missense_Mutation	C	T	p.C161Y
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	22324582	22324778	22324688	22324688	Missense_Mutation	C	T	p.D159N
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	22324582	22324778	22324715	22324715	Missense_Mutation	C	T	p.A150T
TE9_OESOPHAGUS	22326249	22326323	22326305	22326305	Missense_Mutation	C	T	p.D110N
SW1271_LUNG	22316801	22316974	22316933	22316933	Nonsense_Mutation	C	A	p.E465*
SW1271_LUNG	22316500	22316974	22316933	22316933	Nonsense_Mutation	C	A	p.E465*
C33A_CERVIX	22321975	22322088	22322046	22322046	Nonsense_Mutation	G	A	p.R261*
K5_THYROID	22316801	22316974	22316802	22316802	Splice_Site	G	A	p.I508I
K5_THYROID	22316500	22316974	22316802	22316802	Splice_Site	G	A	p.I508I

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TOP3B

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_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	BLCA	rs56138298	chr22:22316540	G/A	1.85e-06
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	BLCA	rs239915	chr22:22316631	G/A	4.56e-06
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	KIRP	rs56138298	chr22:22316540	G/A	2.54e-05
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	KIRP	rs239915	chr22:22316631	G/A	3.86e-05
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	LGG	rs56138298	chr22:22316540	G/A	1.94e-05
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	LGG	rs239915	chr22:22316631	G/A	1.94e-05
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	LGG	rs56138298	chr22:22316540	G/A	2.79e-03
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	LGG	rs239915	chr22:22316631	G/A	2.79e-03
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	KIRC	rs56138298	chr22:22316540	G/A	7.27e-05
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	KIRC	rs239915	chr22:22316631	G/A	2.05e-04
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	LUAD	rs56138298	chr22:22316540	G/A	2.33e-04
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	LUAD	rs239915	chr22:22316631	G/A	5.28e-04
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	LUSC	rs56138298	chr22:22316540	G/A	4.45e-09
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	LUSC	rs239915	chr22:22316631	G/A	5.78e-09
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	PRAD	rs239915	chr22:22316631	G/A	1.50e-07
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	PRAD	rs56138298	chr22:22316540	G/A	4.10e-07
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	SARC	rs239915	chr22:22316631	G/A	1.27e-03
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	THYM	rs56138298	chr22:22316540	G/A	1.36e-05
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	THYM	rs239915	chr22:22316631	G/A	2.02e-05
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	STAD	rs56138298	chr22:22316540	G/A	4.98e-07
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	STAD	rs239915	chr22:22316631	G/A	1.12e-06
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	THCA	rs239915	chr22:22316631	G/A	2.30e-08
exon_skip_367797	22	22314692:22314821:22316499:22316974:22317118:22317265	22316499:22316974	ENST00000413067.2	THCA	rs56138298	chr22:22316540	G/A	3.73e-07

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TOP3B

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TOP3B

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RelatedDrugs for TOP3B

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 TOP3B

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
TOP3B	C0036341	Schizophrenia	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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