ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PBRM1

Gene summary

Gene information	Gene symbol	PBRM1
	Gene ID	55193
	Gene name	polybromo 1
	Synonyms	BAF180\|PB1
	Cytomap	3p21.1
	Type of gene	protein-coding
	Description	protein polybromo-1BRG1-associated factor 180polybromo-1D
	Modification date	20180523
	UniProtAcc	Q86U86
	Context	PubMed: PBRM1 [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 PBRM1 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 PBRM1

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 PBRM1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_384878	3	52584762:52584833:52588739:52588895:52592264:52592429	52588739:52588895	ENSG00000163939.14	ENST00000296302.7
exon_skip_384879	3	52584762:52584833:52588739:52588895:52595782:52595984	52588739:52588895	ENSG00000163939.14	ENST00000356770.4,ENST00000409057.1,ENST00000412587.1,ENST00000410007.1,ENST00000394830.3
exon_skip_384880	3	52584762:52584833:52592264:52592429:52595782:52595984	52592264:52592429	ENSG00000163939.14	ENST00000409114.3
exon_skip_384882	3	52588798:52588895:52592264:52592429:52595782:52595984	52592264:52592429	ENSG00000163939.14	ENST00000296302.7
exon_skip_384885	3	52595782:52595984:52597298:52597509:52598065:52598249	52597298:52597509	ENSG00000163939.14	ENST00000296302.7,ENST00000356770.4,ENST00000423351.1,ENST00000409767.1,ENST00000409057.1,ENST00000412587.1,ENST00000409114.3,ENST00000410007.1,ENST00000337303.4
exon_skip_384886	3	52595782:52595984:52597379:52597509:52598065:52598249	52597379:52597509	ENSG00000163939.14	ENST00000394830.3
exon_skip_384887	3	52598065:52598249:52610556:52610714:52613069:52613215	52610556:52610714	ENSG00000163939.14	ENST00000296302.7,ENST00000356770.4,ENST00000423351.1,ENST00000409767.1,ENST00000409057.1,ENST00000412587.1,ENST00000409114.3,ENST00000410007.1,ENST00000394830.3,ENST00000337303.4
exon_skip_384889	3	52623085:52623268:52637536:52637748:52643328:52643971	52637536:52637748	ENSG00000163939.14	ENST00000446103.1,ENST00000423351.1
exon_skip_384891	3	52623085:52623271:52637536:52637748:52643328:52643477	52637536:52637748	ENSG00000163939.14	ENST00000296302.7,ENST00000356770.4,ENST00000409767.1,ENST00000409057.1,ENST00000409114.3,ENST00000462207.1,ENST00000410007.1,ENST00000394830.3,ENST00000337303.4
exon_skip_384892	3	52643328:52643971:52649366:52649472:52651277:52651554	52649366:52649472	ENSG00000163939.14	ENST00000296302.7,ENST00000446103.1,ENST00000356770.4,ENST00000423351.1,ENST00000409767.1,ENST00000409057.1,ENST00000412587.1,ENST00000409114.3,ENST00000410007.1,ENST00000394830.3,ENST00000337303.4
exon_skip_384895	3	52651277:52651554:52658912:52658957:52661288:52661386	52658912:52658957	ENSG00000163939.14	ENST00000446103.1,ENST00000409767.1,ENST00000409114.3
exon_skip_384897	3	52661288:52661386:52662909:52663051:52668617:52668831	52662909:52663051	ENSG00000163939.14	ENST00000296302.7,ENST00000446103.1,ENST00000356770.4,ENST00000423351.1,ENST00000409767.1,ENST00000409057.1,ENST00000412587.1,ENST00000409114.3,ENST00000410007.1,ENST00000394830.3,ENST00000337303.4
exon_skip_384898	3	52668617:52668831:52675969:52676061:52677263:52677359	52675969:52676061	ENSG00000163939.14	ENST00000296302.7,ENST00000446103.1,ENST00000423351.1,ENST00000409767.1,ENST00000409057.1,ENST00000412587.1,ENST00000409114.3,ENST00000410007.1,ENST00000394830.3,ENST00000337303.4
exon_skip_384899	3	52668617:52668831:52675969:52676061:52678719:52678805	52675969:52676061	ENSG00000163939.14	ENST00000356770.4
exon_skip_384901	3	52675969:52676061:52677263:52677359:52678719:52678805	52677263:52677359	ENSG00000163939.14	ENST00000296302.7,ENST00000446103.1,ENST00000423351.1,ENST00000409767.1,ENST00000409057.1,ENST00000412587.1,ENST00000409114.3,ENST00000410007.1,ENST00000394830.3,ENST00000337303.4
exon_skip_384902	3	52677263:52677359:52678719:52678805:52682359:52682458	52678719:52678805	ENSG00000163939.14	ENST00000296302.7,ENST00000446103.1,ENST00000423351.1,ENST00000409767.1,ENST00000409057.1,ENST00000412587.1,ENST00000409114.3,ENST00000410007.1,ENST00000394830.3,ENST00000337303.4
exon_skip_384903	3	52678719:52678805:52682359:52682458:52685757:52685826	52682359:52682458	ENSG00000163939.14	ENST00000296302.7,ENST00000446103.1,ENST00000356770.4,ENST00000423351.1,ENST00000409767.1,ENST00000409057.1,ENST00000412587.1,ENST00000409114.3,ENST00000410007.1,ENST00000394830.3,ENST00000337303.4
exon_skip_384904	3	52682359:52682458:52685757:52685826:52692214:52692331	52685757:52685826	ENSG00000163939.14	ENST00000296302.7,ENST00000446103.1,ENST00000356770.4,ENST00000423351.1,ENST00000409767.1,ENST00000409057.1,ENST00000412587.1,ENST00000409114.3,ENST00000410007.1,ENST00000394830.3,ENST00000337303.4
exon_skip_384907	3	52685779:52685826:52692214:52692331:52696148:52696292	52692214:52692331	ENSG00000163939.14	ENST00000296302.7,ENST00000446103.1,ENST00000356770.4,ENST00000423351.1,ENST00000431678.1,ENST00000409767.1,ENST00000409057.1,ENST00000412587.1,ENST00000409114.3,ENST00000410007.1,ENST00000394830.3,ENST00000337303.4
exon_skip_384909	3	52696219:52696292:52702513:52702661:52712515:52712583	52702513:52702661	ENSG00000163939.14	ENST00000296302.7,ENST00000446103.1,ENST00000356770.4,ENST00000423351.1,ENST00000431678.1,ENST00000409767.1,ENST00000409057.1,ENST00000412587.1,ENST00000409114.3,ENST00000410007.1,ENST00000394830.3,ENST00000420148.1,ENST00000337303.4
exon_skip_384917	3	52713598:52713739:52716107:52716249:52719764:52719810	52716107:52716249	ENSG00000163939.14	ENST00000450271.1
exon_skip_384920	3	52713589:52713742:52715719:52715836:52716107:52716159	52715719:52715836	ENSG00000163939.14	ENST00000424867.1,ENST00000439181.1
exon_skip_384925	3	52713649:52713742:52716107:52716249:52719764:52719810	52716107:52716249	ENSG00000163939.14	ENST00000420148.1
exon_skip_384931	3	52716107:52716249:52718871:52718930:52719764:52719810	52718871:52718930	ENSG00000163939.14	ENST00000424867.1,ENST00000458294.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PBRM1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_384878	3	52584762:52584833:52588739:52588895:52592264:52592429	52588739:52588895	ENSG00000163939.14	ENST00000296302.7
exon_skip_384879	3	52584762:52584833:52588739:52588895:52595782:52595984	52588739:52588895	ENSG00000163939.14	ENST00000356770.4,ENST00000394830.3,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1
exon_skip_384880	3	52584762:52584833:52592264:52592429:52595782:52595984	52592264:52592429	ENSG00000163939.14	ENST00000409114.3
exon_skip_384882	3	52588798:52588895:52592264:52592429:52595782:52595984	52592264:52592429	ENSG00000163939.14	ENST00000296302.7
exon_skip_384885	3	52595782:52595984:52597298:52597509:52598065:52598249	52597298:52597509	ENSG00000163939.14	ENST00000356770.4,ENST00000296302.7,ENST00000337303.4,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000423351.1
exon_skip_384886	3	52595782:52595984:52597379:52597509:52598065:52598249	52597379:52597509	ENSG00000163939.14	ENST00000394830.3
exon_skip_384887	3	52598065:52598249:52610556:52610714:52613069:52613215	52610556:52610714	ENSG00000163939.14	ENST00000356770.4,ENST00000394830.3,ENST00000296302.7,ENST00000337303.4,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000423351.1
exon_skip_384889	3	52623085:52623268:52637536:52637748:52643328:52643971	52637536:52637748	ENSG00000163939.14	ENST00000423351.1,ENST00000446103.1
exon_skip_384891	3	52623085:52623271:52637536:52637748:52643328:52643477	52637536:52637748	ENSG00000163939.14	ENST00000356770.4,ENST00000394830.3,ENST00000296302.7,ENST00000337303.4,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000462207.1
exon_skip_384892	3	52643328:52643971:52649366:52649472:52651277:52651554	52649366:52649472	ENSG00000163939.14	ENST00000356770.4,ENST00000394830.3,ENST00000296302.7,ENST00000337303.4,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000423351.1,ENST00000446103.1
exon_skip_384895	3	52651277:52651554:52658912:52658957:52661288:52661386	52658912:52658957	ENSG00000163939.14	ENST00000409114.3,ENST00000409767.1,ENST00000446103.1
exon_skip_384897	3	52661288:52661386:52662909:52663051:52668617:52668831	52662909:52663051	ENSG00000163939.14	ENST00000356770.4,ENST00000394830.3,ENST00000296302.7,ENST00000337303.4,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000423351.1,ENST00000446103.1
exon_skip_384898	3	52668617:52668831:52675969:52676061:52677263:52677359	52675969:52676061	ENSG00000163939.14	ENST00000394830.3,ENST00000296302.7,ENST00000337303.4,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000423351.1,ENST00000446103.1
exon_skip_384899	3	52668617:52668831:52675969:52676061:52678719:52678805	52675969:52676061	ENSG00000163939.14	ENST00000356770.4
exon_skip_384901	3	52675969:52676061:52677263:52677359:52678719:52678805	52677263:52677359	ENSG00000163939.14	ENST00000394830.3,ENST00000296302.7,ENST00000337303.4,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000423351.1,ENST00000446103.1
exon_skip_384902	3	52677263:52677359:52678719:52678805:52682359:52682458	52678719:52678805	ENSG00000163939.14	ENST00000394830.3,ENST00000296302.7,ENST00000337303.4,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000423351.1,ENST00000446103.1
exon_skip_384903	3	52678719:52678805:52682359:52682458:52685757:52685826	52682359:52682458	ENSG00000163939.14	ENST00000356770.4,ENST00000394830.3,ENST00000296302.7,ENST00000337303.4,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000423351.1,ENST00000446103.1
exon_skip_384904	3	52682359:52682458:52685757:52685826:52692214:52692331	52685757:52685826	ENSG00000163939.14	ENST00000356770.4,ENST00000394830.3,ENST00000296302.7,ENST00000337303.4,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000423351.1,ENST00000446103.1
exon_skip_384907	3	52685779:52685826:52692214:52692331:52696148:52696292	52692214:52692331	ENSG00000163939.14	ENST00000356770.4,ENST00000394830.3,ENST00000296302.7,ENST00000337303.4,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000423351.1,ENST00000446103.1,ENST00000431678.1
exon_skip_384909	3	52696219:52696292:52702513:52702661:52712515:52712583	52702513:52702661	ENSG00000163939.14	ENST00000356770.4,ENST00000394830.3,ENST00000296302.7,ENST00000337303.4,ENST00000412587.1,ENST00000409057.1,ENST00000410007.1,ENST00000409114.3,ENST00000409767.1,ENST00000423351.1,ENST00000446103.1,ENST00000431678.1,ENST00000420148.1
exon_skip_384917	3	52713598:52713739:52716107:52716249:52719764:52719810	52716107:52716249	ENSG00000163939.14	ENST00000450271.1
exon_skip_384920	3	52713589:52713742:52715719:52715836:52716107:52716159	52715719:52715836	ENSG00000163939.14	ENST00000439181.1,ENST00000424867.1
exon_skip_384925	3	52713649:52713742:52716107:52716249:52719764:52719810	52716107:52716249	ENSG00000163939.14	ENST00000420148.1
exon_skip_384931	3	52716107:52716249:52718871:52718930:52719764:52719810	52718871:52718930	ENSG00000163939.14	ENST00000458294.1,ENST00000424867.1

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 PBRM1

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
ENST00000296302	52597298	52597509	Frame-shift
ENST00000296302	52610556	52610714	Frame-shift
ENST00000296302	52637536	52637748	Frame-shift
ENST00000296302	52649366	52649472	Frame-shift
ENST00000296302	52662909	52663051	Frame-shift
ENST00000296302	52675969	52676061	Frame-shift
ENST00000296302	52678719	52678805	Frame-shift
ENST00000296302	52702513	52702661	Frame-shift
ENST00000296302	52588739	52588895	In-frame
ENST00000296302	52592264	52592429	In-frame
ENST00000296302	52677263	52677359	In-frame
ENST00000296302	52682359	52682458	In-frame
ENST00000296302	52685757	52685826	In-frame
ENST00000296302	52692214	52692331	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
ENST00000296302	52597298	52597509	Frame-shift
ENST00000296302	52610556	52610714	Frame-shift
ENST00000296302	52637536	52637748	Frame-shift
ENST00000296302	52649366	52649472	Frame-shift
ENST00000296302	52662909	52663051	Frame-shift
ENST00000296302	52675969	52676061	Frame-shift
ENST00000296302	52678719	52678805	Frame-shift
ENST00000296302	52702513	52702661	Frame-shift
ENST00000296302	52588739	52588895	In-frame
ENST00000296302	52592264	52592429	In-frame
ENST00000296302	52677263	52677359	In-frame
ENST00000296302	52682359	52682458	In-frame
ENST00000296302	52685757	52685826	In-frame
ENST00000296302	52692214	52692331	In-frame

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Infer the effects of exon skipping event on protein functional features for PBRM1

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
ENST00000296302	5162	1689	52692214	52692331	531	647	176	215
ENST00000296302	5162	1689	52685757	52685826	648	716	215	238
ENST00000296302	5162	1689	52682359	52682458	717	815	238	271
ENST00000296302	5162	1689	52677263	52677359	902	997	300	331
ENST00000296302	5162	1689	52592264	52592429	4291	4455	1429	1484
ENST00000296302	5162	1689	52588739	52588895	4456	4611	1484	1536

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
ENST00000296302	5162	1689	52692214	52692331	531	647	176	215
ENST00000296302	5162	1689	52685757	52685826	648	716	215	238
ENST00000296302	5162	1689	52682359	52682458	717	815	238	271
ENST00000296302	5162	1689	52677263	52677359	902	997	300	331
ENST00000296302	5162	1689	52592264	52592429	4291	4455	1429	1484
ENST00000296302	5162	1689	52588739	52588895	4456	4611	1484	1536

Lost protein functional features of individual exon skipping events in TCGA.

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

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SNVs in the skipped exons for PBRM1

- 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
KIRC	TCGA-CW-5580-01	exon_skip_384879 exon_skip_384878	52588740	52588895	52588748	52588748	Frame_Shift_Del	G	-	p.P1427fs
KIRC	TCGA-CW-5580-01	exon_skip_384879 exon_skip_384878	52588740	52588895	52588748	52588748	Frame_Shift_Del	G	-	p.P1449fs
STAD	TCGA-BR-4368-01	exon_skip_384879 exon_skip_384878	52588740	52588895	52588798	52588798	Frame_Shift_Del	C	-	p.P1411fs
KIRC	TCGA-CZ-5456-01	exon_skip_384879 exon_skip_384878	52588740	52588895	52588818	52588818	Frame_Shift_Del	G	-	p.Q1404fs
KIRC	TCGA-A3-3316-01	exon_skip_384879 exon_skip_384878	52588740	52588895	52588839	52588839	Frame_Shift_Del	G	-	p.L1397fs
KIRC	TCGA-A3-3316-01	exon_skip_384879 exon_skip_384878	52588740	52588895	52588839	52588839	Frame_Shift_Del	G	-	p.L1417fs
KIRC	TCGA-B0-5094-01	exon_skip_384879 exon_skip_384878	52588740	52588895	52588877	52588877	Frame_Shift_Del	G	-	p.P1384fs
KIRC	TCGA-B0-5094-01	exon_skip_384879 exon_skip_384878	52588740	52588895	52588877	52588877	Frame_Shift_Del	G	-	p.P1405fs
LIHC	TCGA-DD-A39Y-01	exon_skip_384879 exon_skip_384878	52588740	52588895	52588886	52588886	Frame_Shift_Del	C	-	p.G1402fs
KIRC	TCGA-BP-5201-01	exon_skip_384885	52597299	52597509	52597340	52597340	Frame_Shift_Del	G	-	p.L1317fs
LIHC	TCGA-DD-A39Y-01	exon_skip_384885	52597299	52597509	52597340	52597340	Frame_Shift_Del	G	-	p.L1317fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_384885	52597299	52597509	52597340	52597340	Frame_Shift_Del	G	-	p.L1317fs
STAD	TCGA-CD-A4MG-01	exon_skip_384885	52597299	52597509	52597340	52597340	Frame_Shift_Del	G	-	p.L1349fs
KIRC	TCGA-BP-4964-01	exon_skip_384885	52597299	52597509	52597348	52597348	Frame_Shift_Del	T	-	p.Q1314fs
KIRC	TCGA-B0-5097-01	exon_skip_384885	52597299	52597509	52597369	52597369	Frame_Shift_Del	G	-	p.P1308fs
KIRC	TCGA-A3-3326-01	exon_skip_384885	52597299	52597509	52597379	52597379	Frame_Shift_Del	C	-	p.V1304fs
KIRP	TCGA-5P-A9JU-01	exon_skip_384885	52597299	52597509	52597437	52597437	Frame_Shift_Del	A	-	p.A1292fs
KIRP	TCGA-5P-A9JU-01	exon_skip_384886	52597380	52597509	52597437	52597437	Frame_Shift_Del	A	-	p.A1292fs
KIRC	TCGA-A3-3346-01	exon_skip_384885	52597299	52597509	52597506	52597506	Frame_Shift_Del	T	-	p.K1261fs
KIRC	TCGA-A3-3346-01	exon_skip_384885	52597299	52597509	52597506	52597506	Frame_Shift_Del	T	-	p.P1269fs
KIRC	TCGA-A3-3346-01	exon_skip_384886	52597380	52597509	52597506	52597506	Frame_Shift_Del	T	-	p.K1261fs
KIRC	TCGA-A3-3346-01	exon_skip_384886	52597380	52597509	52597506	52597506	Frame_Shift_Del	T	-	p.P1269fs
KIRC	TCGA-B0-5698-01	exon_skip_384887	52610557	52610714	52610584	52610584	Frame_Shift_Del	C	-	p.E1190fs
KIRC	TCGA-B0-5698-01	exon_skip_384887	52610557	52610714	52610584	52610584	Frame_Shift_Del	C	-	p.E1197fs
KIRC	TCGA-A3-3322-01	exon_skip_384887	52610557	52610714	52610585	52610585	Frame_Shift_Del	T	-	p.E1190fs
KIRC	TCGA-A3-3322-01	exon_skip_384887	52610557	52610714	52610585	52610585	Frame_Shift_Del	T	-	p.E1197fs
STAD	TCGA-CG-5728-01	exon_skip_384887	52610557	52610714	52610623	52610623	Frame_Shift_Del	T	-	p.M1184fs
STAD	TCGA-CG-5728-01	exon_skip_384887	52610557	52610714	52610623	52610623	Frame_Shift_Del	T	-	p.M1209fs
KIRC	TCGA-CZ-5470-01	exon_skip_384887	52610557	52610714	52610659	52610659	Frame_Shift_Del	T	-	p.I1172fs
LGG	TCGA-E1-A7YQ-01	exon_skip_384887	52610557	52610714	52610666	52610666	Frame_Shift_Del	G	-	p.P1162fs
THYM	TCGA-ZB-A966-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637589	52637589	Frame_Shift_Del	T	-	p.K877fs
THYM	TCGA-ZB-A966-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637589	52637589	Frame_Shift_Del	T	-	p.K909fs
THYM	TCGA-ZB-A966-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637589	52637589	Frame_Shift_Del	T	-	p.L910fs
ESCA	TCGA-JY-A938-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637688	52637701	Frame_Shift_Del	ACGAATTTTAATAA	-	p.872_877del
STAD	TCGA-HF-A5NB-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637700	52637700	Frame_Shift_Del	A	-	p.F840fs
STAD	TCGA-HF-A5NB-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637700	52637700	Frame_Shift_Del	A	-	p.I873fs
KIRC	TCGA-BP-4960-01	exon_skip_384892	52649367	52649472	52649377	52649377	Frame_Shift_Del	T	-	p.K606fs
KIRC	TCGA-BP-4960-01	exon_skip_384892	52649367	52649472	52649377	52649377	Frame_Shift_Del	T	-	p.L639fs
LIHC	TCGA-DD-A39Y-01	exon_skip_384892	52649367	52649472	52649380	52649380	Frame_Shift_Del	G	-	p.P605fs
KIRC	TCGA-B0-5119-01	exon_skip_384892	52649367	52649472	52649433	52649434	Frame_Shift_Del	CC	-	p.620_620del
KIRC	TCGA-B0-5119-01	exon_skip_384892	52649367	52649472	52649433	52649434	Frame_Shift_Del	CC	-	p.KE587fs
KIRC	TCGA-BP-4981-01	exon_skip_384897	52662910	52663051	52662911	52662911	Frame_Shift_Del	T	-	p.Q481fs
KIRC	TCGA-CJ-6027-01	exon_skip_384897	52662910	52663051	52663010	52663010	Frame_Shift_Del	A	-	p.L416fs
KIRC	TCGA-CZ-5453-01	exon_skip_384901	52677264	52677359	52677265	52677265	Frame_Shift_Del	G	-	p.R332fs
KIRC	TCGA-A3-3378-01	exon_skip_384901	52677264	52677359	52677285	52677285	Frame_Shift_Del	T	-	p.N325fs
KIRC	TCGA-A3-A8OW-01	exon_skip_384902	52678720	52678805	52678745	52678746	Frame_Shift_Del	TT	-	p.292_292del
COAD	TCGA-CK-5916-01	exon_skip_384902	52678720	52678805	52678784	52678784	Frame_Shift_Del	T	-	p.I279fs
ESCA	TCGA-L5-A8NM-01	exon_skip_384902	52678720	52678805	52678784	52678784	Frame_Shift_Del	T	-	p.I279fs
SARC	TCGA-3B-A9HT-01	exon_skip_384902	52678720	52678805	52678784	52678784	Frame_Shift_Del	T	-	p.I279fs
STAD	TCGA-BR-7851-01	exon_skip_384902	52678720	52678805	52678784	52678784	Frame_Shift_Del	T	-	p.I279fs
STAD	TCGA-IN-A6RO-01	exon_skip_384902	52678720	52678805	52678784	52678784	Frame_Shift_Del	T	-	p.I279fs
STAD	TCGA-CD-8536-01	exon_skip_384903	52682360	52682458	52682389	52682390	Frame_Shift_Del	AA	-	p.262_262del
STAD	TCGA-CD-8536-01	exon_skip_384903	52682360	52682458	52682389	52682390	Frame_Shift_Del	AA	-	p.Y262fs
LIHC	TCGA-DD-A1EG-01	exon_skip_384904	52685758	52685826	52685769	52685769	Frame_Shift_Del	G	-	p.Q235fs
KIRC	TCGA-CZ-5986-01	exon_skip_384907	52692215	52692331	52692236	52692236	Frame_Shift_Del	A	-	p.F208fs
KIRC	TCGA-CZ-5986-01	exon_skip_384907	52692215	52692331	52692236	52692236	Frame_Shift_Del	A	-	p.Q209fs
KIRC	TCGA-B2-4101-01	exon_skip_384907	52692215	52692331	52692279	52692280	Frame_Shift_Del	AC	-	p.194_194del
KIRC	TCGA-B2-4101-01	exon_skip_384907	52692215	52692331	52692279	52692280	Frame_Shift_Del	AC	-	p.V195fs
KIRC	TCGA-CJ-5671-01	exon_skip_384909	52702514	52702661	52702517	52702532	Frame_Shift_Del	ATAATAGGACTTTGCA	-	p.123_128del
LIHC	TCGA-DD-A1EG-01	exon_skip_384909	52702514	52702661	52702538	52702538	Frame_Shift_Del	A	-	p.F120fs
KIRC	TCGA-BP-5194-01	exon_skip_384909	52702514	52702661	52702549	52702555	Frame_Shift_Del	GGAAGTC	-	p.115_117del
KIRC	TCGA-BP-5194-01	exon_skip_384909	52702514	52702661	52702549	52702555	Frame_Shift_Del	GGAAGTC	-	p.DFQ115fs
KIRC	TCGA-AK-3430-01	exon_skip_384909	52702514	52702661	52702551	52702551	Frame_Shift_Del	A	-	p.F116fs
KIRC	TCGA-A3-3383-01	exon_skip_384909	52702514	52702661	52702569	52702569	Frame_Shift_Del	T	-	p.N110fs
KIRC	TCGA-A3-A6NJ-01	exon_skip_384887	52610557	52610714	52610601	52610602	Frame_Shift_Ins	-	AT	p.F1191fs
KIRC	TCGA-CJ-4913-01	exon_skip_384887	52610557	52610714	52610608	52610609	Frame_Shift_Ins	-	T	p.E1189fs
SKCM	TCGA-EB-A5UN-06	exon_skip_384887	52610557	52610714	52610608	52610609	Frame_Shift_Ins	-	T	p.E1189fs
SKCM	TCGA-EB-A5UN-06	exon_skip_384887	52610557	52610714	52610608	52610609	Frame_Shift_Ins	-	T	p.S1182fs
HNSC	TCGA-CN-5366-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637575	52637576	Frame_Shift_Ins	-	TTTC	p.I914fs
HNSC	TCGA-CN-5366-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637575	52637576	Frame_Shift_Ins	-	TTTC	p.R882fs
KIRC	TCGA-B4-5832-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637711	52637712	Frame_Shift_Ins	-	A	p.A837fs
KIRC	TCGA-B0-5713-01	exon_skip_384902	52678720	52678805	52678783	52678784	Frame_Shift_Ins	-	T	p.I279fs
KIRP	TCGA-GL-A9DE-01	exon_skip_384902	52678720	52678805	52678783	52678784	Frame_Shift_Ins	-	T	p.I279fs
STAD	TCGA-HU-A4H4-01	exon_skip_384903	52682360	52682458	52682399	52682400	Frame_Shift_Ins	-	T	p.N258fs
STAD	TCGA-HU-A4H4-01	exon_skip_384903	52682360	52682458	52682400	52682401	Frame_Shift_Ins	-	T	p.N258fs
KIRC	TCGA-CJ-5676-01	exon_skip_384885	52597299	52597509	52597493	52597493	Nonsense_Mutation	G	A	p.Q1273X
KIRC	TCGA-CJ-5676-01	exon_skip_384886	52597380	52597509	52597493	52597493	Nonsense_Mutation	G	A	p.Q1273X
KIRC	TCGA-CJ-5684-01	exon_skip_384887	52610557	52610714	52610695	52610695	Nonsense_Mutation	G	A	p.R1160X
READ	TCGA-F5-6814-01	exon_skip_384887	52610557	52610714	52610695	52610695	Nonsense_Mutation	G	A	p.R1160X
SKCM	TCGA-EE-A2M6-06	exon_skip_384887	52610557	52610714	52610695	52610695	Nonsense_Mutation	G	A	p.R1153*
SKCM	TCGA-EE-A2M6-06	exon_skip_384887	52610557	52610714	52610695	52610695	Nonsense_Mutation	G	A	p.R1160X
STAD	TCGA-BR-8284-01	exon_skip_384887	52610557	52610714	52610695	52610695	Nonsense_Mutation	G	A	p.R1160X
STAD	TCGA-BR-8284-01	exon_skip_384887	52610557	52610714	52610695	52610695	Nonsense_Mutation	G	A	p.R1185*
UCEC	TCGA-AP-A059-01	exon_skip_384887	52610557	52610714	52610695	52610695	Nonsense_Mutation	G	A	p.R1153*
UCS	TCGA-ND-A4WC-01	exon_skip_384887	52610557	52610714	52610695	52610695	Nonsense_Mutation	G	A	p.R1153*
UCS	TCGA-ND-A4WC-01	exon_skip_384887	52610557	52610714	52610695	52610695	Nonsense_Mutation	G	A	p.R1160X
SKCM	TCGA-ER-A2NG-06	exon_skip_384887	52610557	52610714	52610700	52610700	Nonsense_Mutation	C	T	p.W1151*
SKCM	TCGA-ER-A2NG-06	exon_skip_384887	52610557	52610714	52610700	52610700	Nonsense_Mutation	C	T	p.W1158X
HNSC	TCGA-F7-A624-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637555	52637555	Nonsense_Mutation	G	A	p.R889*
KIRC	TCGA-CZ-5455-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637555	52637555	Nonsense_Mutation	G	A	p.R921X
LGG	TCGA-DU-6392-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637555	52637555	Nonsense_Mutation	G	A	p.R889*
UCEC	TCGA-BS-A0UJ-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637555	52637555	Nonsense_Mutation	G	A	p.R889*
KIRC	TCGA-BP-5180-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637711	52637711	Nonsense_Mutation	G	A	p.Q837*
KIRC	TCGA-BP-5180-01	exon_skip_384891 exon_skip_384889	52637537	52637748	52637711	52637711	Nonsense_Mutation	G	A	p.Q869X
KIRC	TCGA-A3-3320-01	exon_skip_384892	52649367	52649472	52649373	52649373	Nonsense_Mutation	T	A	p.K608*
KIRC	TCGA-A3-3320-01	exon_skip_384892	52649367	52649472	52649373	52649373	Nonsense_Mutation	T	A	p.K640X
KIRP	TCGA-B1-A656-01	exon_skip_384892	52649367	52649472	52649430	52649430	Nonsense_Mutation	T	A	p.K621*
KIRC	TCGA-A3-3382-01	exon_skip_384897	52662910	52663051	52662912	52662912	Nonsense_Mutation	G	A	p.Q449*
KIRC	TCGA-A3-3382-01	exon_skip_384897	52662910	52663051	52662912	52662912	Nonsense_Mutation	G	A	p.Q481X
CHOL	TCGA-ZH-A8Y4-01	exon_skip_384897	52662910	52663051	52662939	52662939	Nonsense_Mutation	G	A	p.R440*
CHOL	TCGA-ZH-A8Y4-01	exon_skip_384897	52662910	52663051	52662939	52662939	Nonsense_Mutation	G	A	p.R472X
LIHC	TCGA-DD-A1EA-01	exon_skip_384897	52662910	52663051	52662939	52662939	Nonsense_Mutation	G	A	p.R440*
LIHC	TCGA-DD-A1EA-01	exon_skip_384897	52662910	52663051	52662939	52662939	Nonsense_Mutation	G	A	p.R472X
LIHC	TCGA-DD-A1EE-01	exon_skip_384897	52662910	52663051	52662939	52662939	Nonsense_Mutation	G	A	p.R472X
KIRC	TCGA-B0-5115-01	exon_skip_384897	52662910	52663051	52662984	52662984	Nonsense_Mutation	C	A	p.E425*
KIRC	TCGA-B0-5115-01	exon_skip_384897	52662910	52663051	52662984	52662984	Nonsense_Mutation	C	A	p.E457X
KIRC	TCGA-BP-4999-01	exon_skip_384897	52662910	52663051	52663035	52663035	Nonsense_Mutation	G	A	p.Q440X
SKCM	TCGA-EB-A5UN-06	exon_skip_384898 exon_skip_384899	52675970	52676061	52675975	52675975	Nonsense_Mutation	A	T	p.L329*
HNSC	TCGA-CQ-5326-01	exon_skip_384898 exon_skip_384899	52675970	52676061	52675991	52675991	Nonsense_Mutation	C	A	p.E324*
HNSC	TCGA-CQ-5326-01	exon_skip_384898 exon_skip_384899	52675970	52676061	52675991	52675991	Nonsense_Mutation	C	A	p.E356*
CHOL	TCGA-ZH-A8Y1-01	exon_skip_384902	52678720	52678805	52678790	52678790	Nonsense_Mutation	T	A	p.K277*
CHOL	TCGA-ZH-A8Y1-01	exon_skip_384902	52678720	52678805	52678790	52678790	Nonsense_Mutation	T	A	p.K277X
COAD	TCGA-A6-2671-01	exon_skip_384902	52678720	52678805	52678790	52678790	Nonsense_Mutation	T	A	p.K277X
UCEC	TCGA-D1-A16X-01	exon_skip_384902	52678720	52678805	52678795	52678795	Nonsense_Mutation	G	T	p.S275*
KIRC	TCGA-A3-3373-01	exon_skip_384903	52682360	52682458	52682446	52682446	Nonsense_Mutation	T	A	p.K243*
KIRC	TCGA-A3-3373-01	exon_skip_384903	52682360	52682458	52682446	52682446	Nonsense_Mutation	T	A	p.K243X
KIRC	TCGA-B0-5694-01	exon_skip_384907	52692215	52692331	52692235	52692235	Nonsense_Mutation	G	A	p.Q209X
KIRC	TCGA-DV-5566-01	exon_skip_384907	52692215	52692331	52692298	52692298	Nonsense_Mutation	G	A	p.Q188X
KIRC	TCGA-BP-4982-01	exon_skip_384909	52702514	52702661	52702612	52702612	Nonsense_Mutation	T	A	p.K96*
KIRC	TCGA-BP-4982-01	exon_skip_384909	52702514	52702661	52702612	52702612	Nonsense_Mutation	T	A	p.K96X
SKCM	TCGA-EB-A24D-01	exon_skip_384909	52702514	52702661	52702643	52702643	Nonsense_Mutation	A	C	p.Y85*
SKCM	TCGA-EB-A24D-01	exon_skip_384909	52702514	52702661	52702643	52702643	Nonsense_Mutation	A	C	p.Y85X
KIRC	TCGA-A3-3326-01	exon_skip_384886	52597380	52597509	52597379	52597379	Splice_Site	C	-	.
ESCA	TCGA-Z6-A8JD-01	exon_skip_384885	52597299	52597509	52597511	52597511	Splice_Site	T	C	.
ESCA	TCGA-Z6-A8JD-01	exon_skip_384885	52597299	52597509	52597511	52597511	Splice_Site	T	C	e24-2
ESCA	TCGA-Z6-A8JD-01	exon_skip_384886	52597380	52597509	52597511	52597511	Splice_Site	T	C	.
ESCA	TCGA-Z6-A8JD-01	exon_skip_384886	52597380	52597509	52597511	52597511	Splice_Site	T	C	e24-2
KIRC	TCGA-CJ-6033-01	exon_skip_384887	52610557	52610714	52610715	52610715	Splice_Site	C	G	.
PAAD	TCGA-IB-7645-01	exon_skip_384892	52649367	52649472	52649473	52649473	Splice_Site	C	T	.
KIRC	TCGA-CW-5589-01	exon_skip_384897	52662910	52663051	52663052	52663052	Splice_Site	C	A	.
KIRC	TCGA-B0-5107-01	exon_skip_384898 exon_skip_384899	52675970	52676061	52676063	52676063	Splice_Site	T	A	.
THYM	TCGA-4X-A9FC-01	exon_skip_384901	52677264	52677359	52677263	52677263	Splice_Site	C	A	.
KIRC	TCGA-B8-5158-01	exon_skip_384902	52678720	52678805	52678806	52678806	Splice_Site	C	T	.
KIRC	TCGA-CW-6093-01	exon_skip_384903	52682360	52682458	52682459	52682459	Splice_Site	C	T	.
KIRC	TCGA-B4-5377-01	exon_skip_384907	52692215	52692331	52692333	52692333	Splice_Site	T	A	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-A3-3316-01
	Cancer type: KIRC
	ESID: exon_skip_384878
	Skipped exon start: 52588740
	Skipped exon end: 52588895
	Mutation start: 52588839
	Mutation end: 52588839
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L1397fs
	Sample: TCGA-A3-3316-01
	Cancer type: KIRC
	ESID: exon_skip_384878
	Skipped exon start: 52588740
	Skipped exon end: 52588895
	Mutation start: 52588839
	Mutation end: 52588839
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L1417fs
exon_skip_16960_KIRC_TCGA-A3-3316-01.png
exon_skip_384879_KIRC_TCGA-A3-3316-01.png
	Sample: TCGA-CW-5580-01
	Cancer type: KIRC
	ESID: exon_skip_384878
	Skipped exon start: 52588740
	Skipped exon end: 52588895
	Mutation start: 52588748
	Mutation end: 52588748
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P1427fs
	Sample: TCGA-CW-5580-01
	Cancer type: KIRC
	ESID: exon_skip_384878
	Skipped exon start: 52588740
	Skipped exon end: 52588895
	Mutation start: 52588748
	Mutation end: 52588748
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P1449fs
exon_skip_384879_KIRC_TCGA-CW-5580-01.png
	Sample: TCGA-CZ-5456-01
	Cancer type: KIRC
	ESID: exon_skip_384878
	Skipped exon start: 52588740
	Skipped exon end: 52588895
	Mutation start: 52588818
	Mutation end: 52588818
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q1404fs
exon_skip_136491_KIRC_TCGA-CZ-5456-01.png
exon_skip_384879_KIRC_TCGA-CZ-5456-01.png
	Sample: TCGA-B0-5094-01
	Cancer type: KIRC
	ESID: exon_skip_384878
	Skipped exon start: 52588740
	Skipped exon end: 52588895
	Mutation start: 52588877
	Mutation end: 52588877
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P1384fs
	Sample: TCGA-B0-5094-01
	Cancer type: KIRC
	ESID: exon_skip_384878
	Skipped exon start: 52588740
	Skipped exon end: 52588895
	Mutation start: 52588877
	Mutation end: 52588877
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P1405fs
exon_skip_135114_KIRC_TCGA-B0-5094-01.png
exon_skip_384879_KIRC_TCGA-B0-5094-01.png
	Sample: TCGA-BR-4368-01
	Cancer type: STAD
	ESID: exon_skip_384878
	Skipped exon start: 52588740
	Skipped exon end: 52588895
	Mutation start: 52588798
	Mutation end: 52588798
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.P1411fs
exon_skip_113437_STAD_TCGA-BR-4368-01.png
exon_skip_121036_STAD_TCGA-BR-4368-01.png
exon_skip_126510_STAD_TCGA-BR-4368-01.png
exon_skip_309996_STAD_TCGA-BR-4368-01.png
exon_skip_384879_STAD_TCGA-BR-4368-01.png
exon_skip_425876_STAD_TCGA-BR-4368-01.png
exon_skip_491897_STAD_TCGA-BR-4368-01.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
OC316_OVARY	52588740	52588895	52588798	52588798	Frame_Shift_Del	C	-	p.G1517fs
OC314_OVARY	52588740	52588895	52588798	52588798	Frame_Shift_Del	C	-	p.G1517fs
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	52597299	52597509	52597340	52597340	Frame_Shift_Del	G	-	p.L1349fs
KMRC3_KIDNEY	52610557	52610714	52610609	52610609	Frame_Shift_Del	T	-	p.K1213fs
SNU1079_BILIARY_TRACT	52610557	52610714	52610609	52610609	Frame_Shift_Del	T	-	p.K1213fs
NCIH2196_LUNG	52637537	52637748	52637580	52637580	Frame_Shift_Del	T	-	p.K912fs
CAKI2_KIDNEY	52637537	52637748	52637730	52637733	Frame_Shift_Del	ATAT	-	p.IY861fs
KMRC2_KIDNEY	52678720	52678805	52678745	52678745	Frame_Shift_Del	T	-	p.M292fs
MFE319_ENDOMETRIUM	52678720	52678805	52678768	52678768	Frame_Shift_Del	T	-	p.K284fs
SNU1_STOMACH	52678720	52678805	52678784	52678784	Frame_Shift_Del	T	-	p.I279fs
HCC1833_LUNG	52678720	52678805	52678784	52678787	Frame_Shift_Del	TTTT	-	p.KI278fs
CW2_LARGE_INTESTINE	52678720	52678805	52678784	52678784	Frame_Shift_Del	T	-	p.I279fs
SNU175_LARGE_INTESTINE	52682360	52682458	52682400	52682400	Frame_Shift_Del	T	-	p.N258fs
RCCER_KIDNEY	52682360	52682458	52682417	52682420	Frame_Shift_Del	TATA	-	p.DI251fs
SNU1272_KIDNEY	52610557	52610714	52610613	52610614	Frame_Shift_Ins	-	TG	p.K1212fs
SLR24_KIDNEY	52637537	52637748	52637627	52637628	Frame_Shift_Ins	-	T	p.H897fs
MDAPCA2B_PROSTATE	52682360	52682458	52682399	52682400	Frame_Shift_Ins	-	T	p.N258fs
HEC251_ENDOMETRIUM	52682360	52682458	52682399	52682400	Frame_Shift_Ins	-	T	p.N258fs
SNU1_STOMACH	52588740	52588895	52588842	52588842	Missense_Mutation	C	A	p.G1503C
8305C_THYROID	52592265	52592429	52592324	52592324	Missense_Mutation	C	G	p.G1465A
HEC59_ENDOMETRIUM	52592265	52592429	52592388	52592388	Missense_Mutation	C	T	p.A1444T
OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	52597299	52597509	52597381	52597381	Missense_Mutation	T	C	p.E1335G
OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	52597380	52597509	52597381	52597381	Missense_Mutation	T	C	p.E1335G
HT115_LARGE_INTESTINE	52597299	52597509	52597484	52597484	Missense_Mutation	G	A	p.P1301S
HT115_LARGE_INTESTINE	52597380	52597509	52597484	52597484	Missense_Mutation	G	A	p.P1301S
BICR18_UPPER_AERODIGESTIVE_TRACT	52597299	52597509	52597499	52597499	Missense_Mutation	C	T	p.V1296I
BICR18_UPPER_AERODIGESTIVE_TRACT	52597380	52597509	52597499	52597499	Missense_Mutation	C	T	p.V1296I
SNU81_LARGE_INTESTINE	52610557	52610714	52610593	52610593	Missense_Mutation	T	A	p.N1219Y
HCC2998_LARGE_INTESTINE	52637537	52637748	52637543	52637543	Missense_Mutation	T	G	p.K925Q
BT12_SOFT_TISSUE	52637537	52637748	52637546	52637546	Missense_Mutation	C	T	p.E924K
BT16_SOFT_TISSUE	52637537	52637748	52637546	52637546	Missense_Mutation	C	T	p.E924K
EGI1_BILIARY_TRACT	52637537	52637748	52637546	52637546	Missense_Mutation	C	T	p.E924K
KD_SOFT_TISSUE	52637537	52637748	52637546	52637546	Missense_Mutation	C	T	p.E924K
NCIH2882_LUNG	52637537	52637748	52637546	52637546	Missense_Mutation	C	T	p.E924K
SCS214_SOFT_TISSUE	52637537	52637748	52637546	52637546	Missense_Mutation	C	T	p.E924K
SEKI_SKIN	52637537	52637748	52637546	52637546	Missense_Mutation	C	T	p.E924K
BT16_SOFT_TISSUE	52637537	52637748	52637549	52637549	Missense_Mutation	C	T	p.E923K
KD_SOFT_TISSUE	52637537	52637748	52637549	52637549	Missense_Mutation	C	T	p.E923K
ZR7530_BREAST	52637537	52637748	52637552	52637552	Missense_Mutation	C	G	p.E922Q
NCIH446_LUNG	52637537	52637748	52637633	52637633	Missense_Mutation	T	A	p.T895S
KMRC20_KIDNEY	52662910	52663051	52662996	52662996	Missense_Mutation	T	A	p.N453Y
SNU61_LARGE_INTESTINE	52675970	52676061	52676035	52676035	Missense_Mutation	C	T	p.R341H
NCIH526_LUNG	52678720	52678805	52678722	52678722	Missense_Mutation	C	T	p.M299I
BICR18_UPPER_AERODIGESTIVE_TRACT	52678720	52678805	52678722	52678722	Missense_Mutation	C	T	p.M299I
NCIH1975_LUNG	52678720	52678805	52678730	52678730	Missense_Mutation	G	T	p.L297I
OVCAR5_OVARY	52682360	52682458	52682407	52682407	Missense_Mutation	C	T	p.A256T
OSRC2_KIDNEY	52685758	52685826	52685774	52685774	Missense_Mutation	A	G	p.I233T
MDAMB231_BREAST	52685758	52685826	52685790	52685790	Missense_Mutation	T	C	p.I228V
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	52685758	52685826	52685795	52685795	Missense_Mutation	T	C	p.E226G
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	52692215	52692331	52692244	52692244	Missense_Mutation	C	T	p.E206K
SNGM_ENDOMETRIUM	52692215	52692331	52692256	52692256	Missense_Mutation	G	A	p.R202C
BICR18_UPPER_AERODIGESTIVE_TRACT	52692215	52692331	52692321	52692321	Missense_Mutation	G	C	p.A180G
647V_URINARY_TRACT	52702514	52702661	52702630	52702630	Missense_Mutation	G	C	p.Q90E
HT115_LARGE_INTESTINE	52610557	52610714	52610695	52610695	Nonsense_Mutation	G	A	p.R1185*
KMRC1_KIDNEY	52610557	52610714	52610700	52610700	Nonsense_Mutation	C	T	p.W1183*
RCCFG2_KIDNEY	52662910	52663051	52662924	52662924	Nonsense_Mutation	G	A	p.Q477*
OC316_OVARY	52678720	52678805	52678727	52678727	Nonsense_Mutation	G	A	p.R298*
OC314_OVARY	52678720	52678805	52678727	52678727	Nonsense_Mutation	G	A	p.R298*
NCIH1793_LUNG	52692215	52692331	52692313	52692313	Nonsense_Mutation	T	A	p.K183*
NUGC3_STOMACH	52610557	52610714	52610557	52610557	Splice_Site	C	A	p.G1231*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PBRM1

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 PBRM1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PBRM1

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RelatedDrugs for PBRM1

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 PBRM1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PBRM1	C0005586	Bipolar Disorder	3	PSYGENET
PBRM1	C0007134	Renal Cell Carcinoma	2	CTD_human
PBRM1	C0033975	Psychotic Disorders	1	PSYGENET
PBRM1	C0036341	Schizophrenia	1	PSYGENET
PBRM1	C0040100	Thymoma	1	CTD_human
PBRM1	C0206698	Cholangiocarcinoma	1	CTD_human
PBRM1	C0349204	Nonorganic psychosis	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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