ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ARID1A

Gene summary

Gene information	Gene symbol	ARID1A
	Gene ID	8289
	Gene name	AT-rich interaction domain 1A
	Synonyms	B120\|BAF250\|BAF250a\|BM029\|C1orf4\|CSS2\|ELD\|MRD14\|OSA1\|P270\|SMARCF1\|hELD\|hOSA1
	Cytomap	1p36.11
	Type of gene	protein-coding
	Description	AT-rich interactive domain-containing protein 1AARID domain-containing protein 1AAT rich interactive domain 1A (SWI-like)BRG1-associated factor 250aOSA1 nuclear proteinSWI-like proteinSWI/SNF complex protein p270SWI/SNF-related, matrix-associated,
	Modification date	20180519
	UniProtAcc	O14497
	Context	PubMed: ARID1A [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
ARID1A	GO:0006337	nucleosome disassembly	8895581
ARID1A	GO:0006338	chromatin remodeling	11726552
ARID1A	GO:0030520	intracellular estrogen receptor signaling pathway	12200431
ARID1A	GO:0030521	androgen receptor signaling pathway	12200431
ARID1A	GO:0042921	glucocorticoid receptor signaling pathway	12200431
ARID1A	GO:0045893	positive regulation of transcription, DNA-templated	12200431

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Exon skipping events across known transcript of Ensembl for ARID1A 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 ARID1A

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 ARID1A

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_2969	1	27022894:27024031:27056141:27056354:27057642:27057809	27056141:27056354	ENSG00000117713.13	ENST00000457599.2
exon_skip_2971	1	27087874:27087964:27088642:27088810:27089463:27089776	27088642:27088810	ENSG00000117713.13	ENST00000324856.7,ENST00000374152.2,ENST00000457599.2
exon_skip_2972	1	27092947:27093057:27094280:27094490:27097609:27097817	27094280:27094490	ENSG00000117713.13	ENST00000324856.7,ENST00000374152.2,ENST00000457599.2
exon_skip_2973	1	27094280:27094490:27097609:27097817:27098990:27099123	27097609:27097817	ENSG00000117713.13	ENST00000324856.7,ENST00000374152.2,ENST00000457599.2
exon_skip_2974	1	27100292:27100389:27100819:27101711:27102067:27102198	27100819:27101711	ENSG00000117713.13	ENST00000324856.7,ENST00000374152.2,ENST00000430799.2
exon_skip_2975	1	27100292:27100389:27101470:27101711:27102067:27102198	27101470:27101711	ENSG00000117713.13	ENST00000457599.2
exon_skip_2976	1	27102067:27102198:27102307:27102447:27105513:27105594	27102307:27102447	ENSG00000117713.13	ENST00000532781.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ARID1A

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_2969	1	27022894:27024031:27056141:27056354:27057642:27057809	27056141:27056354	ENSG00000117713.13	ENST00000457599.2
exon_skip_2971	1	27087874:27087964:27088642:27088810:27089463:27089776	27088642:27088810	ENSG00000117713.13	ENST00000324856.7,ENST00000457599.2,ENST00000374152.2
exon_skip_2972	1	27092947:27093057:27094280:27094490:27097609:27097817	27094280:27094490	ENSG00000117713.13	ENST00000324856.7,ENST00000457599.2,ENST00000374152.2
exon_skip_2973	1	27094280:27094490:27097609:27097817:27098990:27099123	27097609:27097817	ENSG00000117713.13	ENST00000324856.7,ENST00000457599.2,ENST00000374152.2
exon_skip_2974	1	27100292:27100389:27100819:27101711:27102067:27102198	27100819:27101711	ENSG00000117713.13	ENST00000324856.7,ENST00000374152.2,ENST00000430799.2
exon_skip_2975	1	27100292:27100389:27101470:27101711:27102067:27102198	27101470:27101711	ENSG00000117713.13	ENST00000457599.2
exon_skip_2976	1	27102067:27102198:27102307:27102447:27105513:27105594	27102307:27102447	ENSG00000117713.13	ENST00000532781.1

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 ARID1A

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
ENST00000324856	27097609	27097817	Frame-shift
ENST00000324856	27100819	27101711	Frame-shift
ENST00000324856	27088642	27088810	In-frame
ENST00000324856	27094280	27094490	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
ENST00000324856	27097609	27097817	Frame-shift
ENST00000324856	27100819	27101711	Frame-shift
ENST00000324856	27088642	27088810	In-frame
ENST00000324856	27094280	27094490	In-frame

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Infer the effects of exon skipping event on protein functional features for ARID1A

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
ENST00000324856	8594	2285	27088642	27088810	2623	2790	750	806
ENST00000324856	8594	2285	27094280	27094490	3360	3569	996	1066

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
ENST00000324856	8594	2285	27088642	27088810	2623	2790	750	806
ENST00000324856	8594	2285	27094280	27094490	3360	3569	996	1066

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 ARID1A

- 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.

ARID1A_BRCA_exon_skip_2974_psi_boxplot.png
boxplot

ARID1A_CESC_exon_skip_2974_psi_boxplot.png
boxplot

ARID1A_COAD_exon_skip_2974_psi_boxplot.png
boxplot

ARID1A_DLBC_exon_skip_2974_psi_boxplot.png
boxplot

ARID1A_ESCA_exon_skip_2974_psi_boxplot.png
boxplot

ARID1A_LIHC_exon_skip_2974_psi_boxplot.png
boxplot

ARID1A_LUAD_exon_skip_2974_psi_boxplot.png
boxplot

ARID1A_PAAD_exon_skip_2974_psi_boxplot.png
boxplot

ARID1A_STAD_exon_skip_2974_psi_boxplot.png
boxplot

ARID1A_UCEC_exon_skip_2974_psi_boxplot.png
boxplot

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
BLCA	TCGA-FD-A3SN-01	exon_skip_2969	27056142	27056354	27056181	27056191	Frame_Shift_Del	CAGCCATATGG	-	p.Q393fs
BLCA	TCGA-FD-A3SN-01	exon_skip_2969	27056142	27056354	27056181	27056191	Frame_Shift_Del	CAGCCATATGG	-	p.QPYG393fs
KIRC	TCGA-B0-5705-01	exon_skip_2969	27056142	27056354	27056201	27056201	Frame_Shift_Del	C	-	p.N399fs
STAD	TCGA-IN-AB1X-01	exon_skip_2969	27056142	27056354	27056244	27056271	Frame_Shift_Del	GGACATGGGTACCCAGGGCAGCCATACG	-	p.413_422del
UCEC	TCGA-BS-A0TG-01	exon_skip_2969	27056142	27056354	27056246	27056253	Frame_Shift_Del	ACATGGGT	-	p.G414fs
UCEC	TCGA-BS-A0TG-01	exon_skip_2969	27056142	27056354	27056246	27056253	Frame_Shift_Del	ACATGGGT	-	p.H415fs
UCEC	TCGA-AX-A0IS-01	exon_skip_2969	27056142	27056354	27056278	27056278	Frame_Shift_Del	A	-	p.Q425fs
UCEC	TCGA-D1-A16B-01	exon_skip_2969	27056142	27056354	27056302	27056302	Frame_Shift_Del	C	-	p.M434fs
UCEC	TCGA-D1-A16B-01	exon_skip_2969	27056142	27056354	27056302	27056302	Frame_Shift_Del	C	-	p.T433fs
LUSC	TCGA-51-4080-01	exon_skip_2969	27056142	27056354	27056326	27056326	Frame_Shift_Del	C	-	p.A441fs
COAD	TCGA-DM-A0XD-01	exon_skip_2969	27056142	27056354	27056337	27056338	Frame_Shift_Del	CT	-	p.444_445del
LGG	TCGA-P5-A77W-01	exon_skip_2971	27088643	27088810	27088645	27088646	Frame_Shift_Del	TA	-	p.Y752fs
BLCA	TCGA-KQ-A41Q-01	exon_skip_2971	27088643	27088810	27088659	27088659	Frame_Shift_Del	C	-	p.N756fs
LGG	TCGA-HT-8564-01	exon_skip_2971	27088643	27088810	27088659	27088659	Frame_Shift_Del	C	-	p.N756fs
LIHC	TCGA-DD-A39Y-01	exon_skip_2971	27088643	27088810	27088659	27088659	Frame_Shift_Del	C	-	p.N756fs
STAD	TCGA-HU-A4GN-01	exon_skip_2971	27088643	27088810	27088659	27088659	Frame_Shift_Del	C	-	p.N756fs
UCEC	TCGA-BG-A0M4-01	exon_skip_2971	27088643	27088810	27088659	27088659	Frame_Shift_Del	C	-	p.N756fs
LIHC	TCGA-DD-A39Y-01	exon_skip_2971	27088643	27088810	27088669	27088669	Frame_Shift_Del	C	-	p.P760fs
STAD	TCGA-BR-8361-01	exon_skip_2971	27088643	27088810	27088682	27088682	Frame_Shift_Del	C	-	p.S764fs
STAD	TCGA-CG-4465-01	exon_skip_2971	27088643	27088810	27088682	27088682	Frame_Shift_Del	C	-	p.S764fs
STAD	TCGA-VQ-A8P2-01	exon_skip_2971	27088643	27088810	27088682	27088682	Frame_Shift_Del	C	-	p.S764fs
UCEC	TCGA-AP-A0LG-01	exon_skip_2971	27088643	27088810	27088739	27088739	Frame_Shift_Del	C	-	p.T783fs
STAD	TCGA-BR-6452-01	exon_skip_2971	27088643	27088810	27088788	27088788	Frame_Shift_Del	G	-	p.Q799fs
STAD	TCGA-F1-6874-01	exon_skip_2971	27088643	27088810	27088788	27088788	Frame_Shift_Del	G	-	p.Q799fs
UCEC	TCGA-A5-A0GA-01	exon_skip_2971	27088643	27088810	27088788	27088788	Frame_Shift_Del	G	-	p.Q799fs
UCEC	TCGA-B5-A0K9-01	exon_skip_2971	27088643	27088810	27088788	27088788	Frame_Shift_Del	G	-	p.Q799fs
UCEC	TCGA-BS-A0TA-01	exon_skip_2971	27088643	27088810	27088788	27088788	Frame_Shift_Del	G	-	p.Q799fs
LUSC	TCGA-66-2793-01	exon_skip_2972	27094281	27094490	27094376	27094376	Frame_Shift_Del	G	-	p.L1028fs
BLCA	TCGA-BL-A13I-01	exon_skip_2972	27094281	27094490	27094409	27094410	Frame_Shift_Del	AA	-	p.N1040fs
BLCA	TCGA-BL-A13I-01	exon_skip_2972	27094281	27094490	27094409	27094410	Frame_Shift_Del	AA	-	p.T1039fs
LUSC	TCGA-51-4081-01	exon_skip_2972	27094281	27094490	27094433	27094440	Frame_Shift_Del	ACCTCTGG	-	p.K1047fs
BRCA	TCGA-A8-A07J-01	exon_skip_2972	27094281	27094490	27094455	27094456	Frame_Shift_Del	TA	-	p.Y1055fs
COAD	TCGA-AM-5820-01	exon_skip_2973	27097610	27097817	27097622	27097622	Frame_Shift_Del	A	-	p.N1070fs
STAD	TCGA-CD-8536-01	exon_skip_2973	27097610	27097817	27097622	27097622	Frame_Shift_Del	A	-	p.N1070fs
STAD	TCGA-F1-6177-01	exon_skip_2973	27097610	27097817	27097622	27097622	Frame_Shift_Del	A	-	p.K1071fs
STAD	TCGA-F1-6177-01	exon_skip_2973	27097610	27097817	27097622	27097622	Frame_Shift_Del	A	-	p.N1070fs
STAD	TCGA-HU-A4H4-01	exon_skip_2973	27097610	27097817	27097622	27097622	Frame_Shift_Del	A	-	p.N1070fs
UCEC	TCGA-D1-A17F-01	exon_skip_2973	27097610	27097817	27097622	27097622	Frame_Shift_Del	A	-	p.K1071fs
UCEC	TCGA-D1-A17U-01	exon_skip_2973	27097610	27097817	27097622	27097622	Frame_Shift_Del	A	-	p.K1071fs
LUAD	TCGA-67-3771-01	exon_skip_2973	27097610	27097817	27097629	27097629	Frame_Shift_Del	G	-	p.W1073fs
UCEC	TCGA-A5-A0GW-01	exon_skip_2973	27097610	27097817	27097688	27097688	Frame_Shift_Del	A	-	p.K1093fs
UCEC	TCGA-BS-A0U8-01	exon_skip_2973	27097610	27097817	27097688	27097688	Frame_Shift_Del	A	-	p.K1093fs
COAD	TCGA-A6-6781-01	exon_skip_2973	27097610	27097817	27097751	27097751	Frame_Shift_Del	C	-	p.P1113fs
STAD	TCGA-BR-8382-01	exon_skip_2973	27097610	27097817	27097751	27097751	Frame_Shift_Del	C	-	p.P1113fs
UCEC	TCGA-D1-A17M-01	exon_skip_2973	27097610	27097817	27097751	27097751	Frame_Shift_Del	C	-	p.P1114fs
LIHC	TCGA-DD-AADP-01	exon_skip_2973	27097610	27097817	27097800	27097809	Frame_Shift_Del	TCCAGCCTCC	-	p.1130_1133del
STAD	TCGA-HU-A4G6-01	exon_skip_2974	27100820	27101711	27100852	27100852	Frame_Shift_Del	C	-	p.G1378fs
UCEC	TCGA-AX-A064-01	exon_skip_2974	27100820	27101711	27100934	27100934	Frame_Shift_Del	C	-	p.P1406fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_2974	27100820	27101711	27100946	27100946	Frame_Shift_Del	C	-	p.P1410fs
STAD	TCGA-BR-4363-01	exon_skip_2974	27100820	27101711	27101117	27101117	Frame_Shift_Del	C	-	p.A1466fs
STAD	TCGA-BR-4363-01	exon_skip_2974	27100820	27101711	27101117	27101117	Frame_Shift_Del	C	-	p.P1467fs
UCEC	TCGA-BG-A18B-01	exon_skip_2974	27100820	27101711	27101117	27101117	Frame_Shift_Del	C	-	p.P1467fs
COAD	TCGA-A6-6780-01	exon_skip_2974	27100820	27101711	27101139	27101139	Frame_Shift_Del	A	-	p.Q1474fs
STAD	TCGA-D7-A4YX-01	exon_skip_2974	27100820	27101711	27101189	27101196	Frame_Shift_Del	GTTGCTCA	-	p.1490_1493del
STAD	TCGA-D7-A4YX-01	exon_skip_2974	27100820	27101711	27101189	27101196	Frame_Shift_Del	GTTGCTCA	-	p.V1491fs
BLCA	TCGA-FD-A6TK-01	exon_skip_2974	27100820	27101711	27101250	27101250	Frame_Shift_Del	G	-	p.R1511fs
UCEC	TCGA-D1-A17C-01	exon_skip_2974	27100820	27101711	27101256	27101266	Frame_Shift_Del	GCACGGGCTCT	-	p.S1513fs
UCEC	TCGA-D1-A17C-01	exon_skip_2974	27100820	27101711	27101256	27101266	Frame_Shift_Del	GCACGGGCTCT	-	p.T1514fs
STAD	TCGA-BR-6456-01	exon_skip_2974	27100820	27101711	27101266	27101266	Frame_Shift_Del	T	-	p.S1516fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_2974	27100820	27101711	27101268	27101268	Frame_Shift_Del	C	-	p.A1517fs
STAD	TCGA-BR-4370-01	exon_skip_2974	27100820	27101711	27101268	27101268	Frame_Shift_Del	C	-	p.A1517fs
STAD	TCGA-BR-8078-01	exon_skip_2974	27100820	27101711	27101268	27101268	Frame_Shift_Del	C	-	p.A1517fs
UCEC	TCGA-B5-A0JR-01	exon_skip_2974	27100820	27101711	27101268	27101268	Frame_Shift_Del	C	-	p.A1517fs
UCEC	TCGA-D1-A163-01	exon_skip_2974	27100820	27101711	27101268	27101268	Frame_Shift_Del	C	-	p.A1517fs
UCEC	TCGA-D1-A163-01	exon_skip_2974	27100820	27101711	27101278	27101278	Frame_Shift_Del	C	-	p.G1520fs
BLCA	TCGA-FD-A3SP-01	exon_skip_2974	27100820	27101711	27101322	27101326	Frame_Shift_Del	CAGAT	-	p.T1535fs
BLCA	TCGA-FD-A3SP-01	exon_skip_2974	27100820	27101711	27101322	27101326	Frame_Shift_Del	CAGAT	-	p.TD1535fs
BLCA	TCGA-FD-A43N-01	exon_skip_2974	27100820	27101711	27101375	27101375	Frame_Shift_Del	C	-	p.P1554fs
CHOL	TCGA-ZD-A8I3-01	exon_skip_2974	27100820	27101711	27101384	27101394	Frame_Shift_Del	GGTCCCTCTGC	-	p.GPSA1556fs
CHOL	TCGA-WD-A7RX-01	exon_skip_2974	27100820	27101711	27101387	27101394	Frame_Shift_Del	CCCTCTGC	-	p.1556_1559del
CHOL	TCGA-WD-A7RX-01	exon_skip_2974	27100820	27101711	27101387	27101394	Frame_Shift_Del	CCCTCTGC	-	p.PSA1557fs
DLBC	TCGA-FA-A86F-01	exon_skip_2974	27100820	27101711	27101417	27101417	Frame_Shift_Del	C	-	p.R1566fs
LIHC	TCGA-DD-A1EG-01	exon_skip_2974	27100820	27101711	27101438	27101438	Frame_Shift_Del	C	-	p.P1576fs
LIHC	TCGA-DD-A3A0-01	exon_skip_2974	27100820	27101711	27101438	27101438	Frame_Shift_Del	C	-	p.P1576fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_2974	27100820	27101711	27101438	27101438	Frame_Shift_Del	C	-	p.P1576fs
STAD	TCGA-CG-4306-01	exon_skip_2974	27100820	27101711	27101438	27101438	Frame_Shift_Del	C	-	p.Q1573fs
UCEC	TCGA-A5-A0GM-01	exon_skip_2974	27100820	27101711	27101478	27101490	Frame_Shift_Del	GCCCTGCTCCCCT	-	p.A1589fs
UCEC	TCGA-A5-A0GM-01	exon_skip_2974	27100820	27101711	27101478	27101490	Frame_Shift_Del	GCCCTGCTCCCCT	-	p.S1587fs
UCEC	TCGA-A5-A0GM-01	exon_skip_2975	27101471	27101711	27101478	27101490	Frame_Shift_Del	GCCCTGCTCCCCT	-	p.A1589fs
UCEC	TCGA-A5-A0GM-01	exon_skip_2975	27101471	27101711	27101478	27101490	Frame_Shift_Del	GCCCTGCTCCCCT	-	p.S1587fs
BLCA	TCGA-YC-A8S6-01	exon_skip_2974	27100820	27101711	27101524	27101524	Frame_Shift_Del	C	-	p.S1602fs
BLCA	TCGA-YC-A8S6-01	exon_skip_2975	27101471	27101711	27101524	27101524	Frame_Shift_Del	C	-	p.S1602fs
STAD	TCGA-BR-6707-01	exon_skip_2974	27100820	27101711	27101593	27101593	Frame_Shift_Del	A	-	p.I1625fs
STAD	TCGA-BR-6707-01	exon_skip_2975	27101471	27101711	27101593	27101593	Frame_Shift_Del	A	-	p.I1625fs
UCEC	TCGA-BS-A0TJ-01	exon_skip_2974	27100820	27101711	27101598	27101611	Frame_Shift_Del	CTGCCCCTGTGCAG	-	p.A1628fs
UCEC	TCGA-BS-A0TJ-01	exon_skip_2974	27100820	27101711	27101598	27101611	Frame_Shift_Del	CTGCCCCTGTGCAG	-	p.P1627fs
UCEC	TCGA-BS-A0TJ-01	exon_skip_2975	27101471	27101711	27101598	27101611	Frame_Shift_Del	CTGCCCCTGTGCAG	-	p.A1628fs
UCEC	TCGA-BS-A0TJ-01	exon_skip_2975	27101471	27101711	27101598	27101611	Frame_Shift_Del	CTGCCCCTGTGCAG	-	p.P1627fs
STAD	TCGA-CG-5728-01	exon_skip_2974	27100820	27101711	27101612	27101612	Frame_Shift_Del	C	-	p.Q1631fs
STAD	TCGA-CG-5728-01	exon_skip_2975	27101471	27101711	27101612	27101612	Frame_Shift_Del	C	-	p.Q1631fs
UCEC	TCGA-AP-A0LD-01	exon_skip_2974	27100820	27101711	27101612	27101612	Frame_Shift_Del	C	-	p.P1632fs
UCEC	TCGA-AP-A0LD-01	exon_skip_2975	27101471	27101711	27101612	27101612	Frame_Shift_Del	C	-	p.P1632fs
UCEC	TCGA-B5-A11O-01	exon_skip_2974	27100820	27101711	27101635	27101635	Frame_Shift_Del	C	-	p.I1639fs
UCEC	TCGA-B5-A11O-01	exon_skip_2974	27100820	27101711	27101635	27101635	Frame_Shift_Del	C	-	p.T1640fs
UCEC	TCGA-B5-A11O-01	exon_skip_2975	27101471	27101711	27101635	27101635	Frame_Shift_Del	C	-	p.I1639fs
UCEC	TCGA-B5-A11O-01	exon_skip_2975	27101471	27101711	27101635	27101635	Frame_Shift_Del	C	-	p.T1640fs
LUSC	TCGA-21-1078-01	exon_skip_2969	27056142	27056354	27056345	27056346	Frame_Shift_Ins	-	AC	p.Y447fs
COAD	TCGA-A6-2676-01	exon_skip_2971	27088643	27088810	27088668	27088669	Frame_Shift_Ins	-	C	p.M759fs
COAD	TCGA-A6-5665-01	exon_skip_2971	27088643	27088810	27088681	27088682	Frame_Shift_Ins	-	C	p.S764fs
LUAD	TCGA-55-8208-01	exon_skip_2971	27088643	27088810	27088681	27088682	Frame_Shift_Ins	-	C	p.P764fs
STAD	TCGA-HF-A5NB-01	exon_skip_2971	27088643	27088810	27088769	27088770	Frame_Shift_Ins	-	G	p.M793fs
STAD	TCGA-HF-A5NB-01	exon_skip_2971	27088643	27088810	27088769	27088770	Frame_Shift_Ins	-	G	p.R793fs
BLCA	TCGA-DK-AA76-01	exon_skip_2971	27088643	27088810	27088787	27088788	Frame_Shift_Ins	-	GG	p.QG799fs
STAD	TCGA-MX-A5UJ-01	exon_skip_2971	27088643	27088810	27088787	27088788	Frame_Shift_Ins	-	G	p.Q799fs
STAD	TCGA-MX-A5UJ-01	exon_skip_2971	27088643	27088810	27088787	27088788	Frame_Shift_Ins	-	G	p.R799fs
UCEC	TCGA-BK-A0CB-01	exon_skip_2972	27094281	27094490	27094291	27094292	Frame_Shift_Ins	-	T	p.S1000fs
UCEC	TCGA-BK-A0CB-01	exon_skip_2972	27094281	27094490	27094291	27094292	Frame_Shift_Ins	-	T	p.S1001fs
UCEC	TCGA-AX-A05T-01	exon_skip_2972	27094281	27094490	27094331	27094332	Frame_Shift_Ins	-	CT	p.E1013fs
UCEC	TCGA-AX-A05T-01	exon_skip_2972	27094281	27094490	27094331	27094332	Frame_Shift_Ins	-	CT	p.G1014fs
ESCA	TCGA-JY-A93F-01	exon_skip_2973	27097610	27097817	27097621	27097622	Frame_Shift_Ins	-	A	p.KK1070fs
ESCA	TCGA-JY-A93F-01	exon_skip_2973	27097610	27097817	27097621	27097622	Frame_Shift_Ins	-	A	p.N1070fs
ESCA	TCGA-JY-A93F-01	exon_skip_2973	27097610	27097817	27097621	27097622	Frame_Shift_Ins	-	A	p.W1072fs
UCEC	TCGA-AP-A05N-01	exon_skip_2973	27097610	27097817	27097687	27097688	Frame_Shift_Ins	-	A	p.L1092fs
UCEC	TCGA-D1-A0ZN-01	exon_skip_2973	27097610	27097817	27097764	27097765	Frame_Shift_Ins	-	TG	p.A1119fs
BLCA	TCGA-E7-A85H-01	exon_skip_2974	27100820	27101711	27101128	27101129	Frame_Shift_Ins	-	A	p.N1471fs
UCEC	TCGA-AP-A05P-01	exon_skip_2974	27100820	27101711	27101259	27101260	Frame_Shift_Ins	-	T	p.T1514fs
BLCA	TCGA-BL-A5ZZ-01	exon_skip_2974	27100820	27101711	27101401	27101402	Frame_Shift_Ins	-	C	p.P1562fs
UCEC	TCGA-BK-A0CA-01	exon_skip_2974	27100820	27101711	27101401	27101402	Frame_Shift_Ins	-	C	p.V1561fs
BRCA	TCGA-A8-A06N-01	exon_skip_2974	27100820	27101711	27101427	27101428	Frame_Shift_Ins	-	TA	p.N1571fs
CHOL	TCGA-YR-A95A-01	exon_skip_2974	27100820	27101711	27101427	27101428	Frame_Shift_Ins	-	T	p.*1570fs
CHOL	TCGA-YR-A95A-01	exon_skip_2974	27100820	27101711	27101427	27101428	Frame_Shift_Ins	-	T	p.S1570fs
UCEC	TCGA-B5-A0K3-01	exon_skip_2974	27100820	27101711	27101611	27101612	Frame_Shift_Ins	-	C	p.Q1631fs
UCEC	TCGA-B5-A0K3-01	exon_skip_2975	27101471	27101711	27101611	27101612	Frame_Shift_Ins	-	C	p.Q1631fs
BLCA	TCGA-BT-A20R-01	exon_skip_2969	27056142	27056354	27056160	27056160	Nonsense_Mutation	C	T	p.Q386*
LUAD	TCGA-55-7725-01	exon_skip_2969	27056142	27056354	27056169	27056169	Nonsense_Mutation	A	T	p.K389*
BLCA	TCGA-FD-A62O-01	exon_skip_2969	27056142	27056354	27056181	27056181	Nonsense_Mutation	C	T	p.Q393*
BLCA	TCGA-K4-A83P-01	exon_skip_2969	27056142	27056354	27056181	27056181	Nonsense_Mutation	C	T	p.Q393*
STAD	TCGA-D7-6521-01	exon_skip_2969	27056142	27056354	27056214	27056214	Nonsense_Mutation	C	T	p.Q404*
STAD	TCGA-D7-6521-01	exon_skip_2969	27056142	27056354	27056214	27056214	Nonsense_Mutation	C	T	p.Q404X
DLBC	TCGA-FM-8000-01	exon_skip_2969	27056142	27056354	27056217	27056217	Nonsense_Mutation	C	T	p.Q405X
UCEC	TCGA-A5-A0GB-01	exon_skip_2969	27056142	27056354	27056217	27056217	Nonsense_Mutation	C	T	p.Q405*
LGG	TCGA-DU-6392-01	exon_skip_2969	27056142	27056354	27056262	27056262	Nonsense_Mutation	C	T	p.Q420*
LGG	TCGA-HT-7611-01	exon_skip_2969	27056142	27056354	27056286	27056286	Nonsense_Mutation	C	T	p.Q428*
LUAD	TCGA-05-4425-01	exon_skip_2969	27056142	27056354	27056307	27056307	Nonsense_Mutation	C	T	p.Q435*
KIRP	TCGA-2Z-A9J5-01	exon_skip_2969	27056142	27056354	27056349	27056349	Nonsense_Mutation	C	T	p.Q449X
LUAD	TCGA-05-5715-01	exon_skip_2971	27088643	27088810	27088651	27088651	Nonsense_Mutation	C	T	p.Q754*
HNSC	TCGA-CV-7429-01	exon_skip_2971	27088643	27088810	27088729	27088729	Nonsense_Mutation	C	T	p.Q780*
CESC	TCGA-DS-A7WH-01	exon_skip_2971	27088643	27088810	27088756	27088756	Nonsense_Mutation	C	T	p.Q789*
SKCM	TCGA-WE-A8ZQ-06	exon_skip_2971	27088643	27088810	27088756	27088756	Nonsense_Mutation	C	T	p.Q789*
SARC	TCGA-HS-A5N7-01	exon_skip_2971	27088643	27088810	27088786	27088786	Nonsense_Mutation	C	T	p.Q799*
KIRC	TCGA-CJ-6032-01	exon_skip_2972	27094281	27094490	27094308	27094308	Nonsense_Mutation	G	T	p.E1006*
KIRC	TCGA-CJ-6032-01	exon_skip_2972	27094281	27094490	27094308	27094308	Nonsense_Mutation	G	T	p.E1006X
BLCA	TCGA-K4-A54R-01	exon_skip_2972	27094281	27094490	27094386	27094386	Nonsense_Mutation	G	T	p.E1032*
BLCA	TCGA-LC-A66R-01	exon_skip_2972	27094281	27094490	27094386	27094386	Nonsense_Mutation	G	T	p.E1032*
BLCA	TCGA-FD-A6TG-01	exon_skip_2972	27094281	27094490	27094470	27094470	Nonsense_Mutation	G	T	p.E1060*
STAD	TCGA-HU-A4GN-01	exon_skip_2973	27097610	27097817	27097630	27097630	Nonsense_Mutation	G	A	p.W1073*
UCEC	TCGA-BS-A0UM-01	exon_skip_2973	27097610	27097817	27097630	27097630	Nonsense_Mutation	G	A	p.W1073*
BLCA	TCGA-DK-AA6R-01	exon_skip_2973	27097610	27097817	27097665	27097665	Nonsense_Mutation	C	G	p.S1085*
BLCA	TCGA-DK-AA71-01	exon_skip_2973	27097610	27097817	27097665	27097665	Nonsense_Mutation	C	A	p.S1085*
BLCA	TCGA-FD-A62P-01	exon_skip_2973	27097610	27097817	27097665	27097665	Nonsense_Mutation	C	G	p.S1085*
LUAD	TCGA-17-Z055-01	exon_skip_2973	27097610	27097817	27097665	27097665	Nonsense_Mutation	C	G	p.S1085*
BLCA	TCGA-GD-A2C5-01	exon_skip_2973	27097610	27097817	27097694	27097694	Nonsense_Mutation	C	T	p.Q1095*
STAD	TCGA-BR-7196-01	exon_skip_2973	27097610	27097817	27097694	27097694	Nonsense_Mutation	C	T	p.Q1095*
STAD	TCGA-BR-7196-01	exon_skip_2973	27097610	27097817	27097694	27097694	Nonsense_Mutation	C	T	p.Q1095X
KIRC	TCGA-AK-3444-01	exon_skip_2973	27097610	27097817	27097703	27097703	Nonsense_Mutation	C	T	p.Q1098*
KIRC	TCGA-AK-3444-01	exon_skip_2973	27097610	27097817	27097703	27097703	Nonsense_Mutation	C	T	p.Q1098X
LIHC	TCGA-CC-A9FS-01	exon_skip_2973	27097610	27097817	27097796	27097796	Nonsense_Mutation	A	T	p.K1129X
UCEC	TCGA-BG-A0M9-01	exon_skip_2973	27097610	27097817	27097802	27097802	Nonsense_Mutation	C	T	p.Q1131*
SKCM	TCGA-D3-A3C3-06	exon_skip_2974	27100820	27101711	27100919	27100919	Nonsense_Mutation	C	T	p.Q1401*
SKCM	TCGA-D3-A3C3-06	exon_skip_2974	27100820	27101711	27100919	27100919	Nonsense_Mutation	C	T	p.Q1401X
UCEC	TCGA-BG-A0YV-01	exon_skip_2974	27100820	27101711	27100943	27100943	Nonsense_Mutation	C	T	p.Q1409*
BLCA	TCGA-GU-A42R-01	exon_skip_2974	27100820	27101711	27100988	27100988	Nonsense_Mutation	C	T	p.Q1424*
CESC	TCGA-C5-A1MK-01	exon_skip_2974	27100820	27101711	27100988	27100988	Nonsense_Mutation	C	T	p.Q1424*
LGG	TCGA-TM-A84S-01	exon_skip_2974	27100820	27101711	27101006	27101006	Nonsense_Mutation	C	T	p.Q1430*
BLCA	TCGA-FD-A5C1-01	exon_skip_2974	27100820	27101711	27101054	27101054	Nonsense_Mutation	C	T	p.R1446*
STAD	TCGA-D7-5577-01	exon_skip_2974	27100820	27101711	27101054	27101054	Nonsense_Mutation	C	T	p.R1446*
STAD	TCGA-D7-5577-01	exon_skip_2974	27100820	27101711	27101054	27101054	Nonsense_Mutation	C	T	p.R1446X
UCEC	TCGA-B5-A0K4-01	exon_skip_2974	27100820	27101711	27101054	27101054	Nonsense_Mutation	C	T	p.R1446*
HNSC	TCGA-KU-A66S-01	exon_skip_2974	27100820	27101711	27101099	27101099	Nonsense_Mutation	C	T	p.R1461*
STAD	TCGA-BR-7851-01	exon_skip_2974	27100820	27101711	27101099	27101099	Nonsense_Mutation	C	T	p.R1461*
STAD	TCGA-BR-7851-01	exon_skip_2974	27100820	27101711	27101099	27101099	Nonsense_Mutation	C	T	p.R1461X
UCEC	TCGA-BG-A0VV-01	exon_skip_2974	27100820	27101711	27101135	27101135	Nonsense_Mutation	C	T	p.Q1473*
LIHC	TCGA-DD-AAE7-01	exon_skip_2974	27100820	27101711	27101213	27101213	Nonsense_Mutation	C	T	p.Q1499X
ESCA	TCGA-L5-A4OJ-01	exon_skip_2974	27100820	27101711	27101252	27101252	Nonsense_Mutation	C	T	p.Q1512*
ESCA	TCGA-L5-A4OJ-01	exon_skip_2974	27100820	27101711	27101252	27101252	Nonsense_Mutation	C	T	p.Q1512X
STAD	TCGA-FP-7998-01	exon_skip_2974	27100820	27101711	27101252	27101252	Nonsense_Mutation	C	T	p.Q1512*
BLCA	TCGA-ZF-A9R7-01	exon_skip_2974	27100820	27101711	27101300	27101300	Nonsense_Mutation	C	T	p.R1528*
SKCM	TCGA-W3-AA1W-06	exon_skip_2974	27100820	27101711	27101300	27101300	Nonsense_Mutation	C	T	p.R1528*
UCEC	TCGA-D1-A160-01	exon_skip_2974	27100820	27101711	27101300	27101300	Nonsense_Mutation	C	T	p.R1528*
BLCA	TCGA-CF-A1HR-01	exon_skip_2974	27100820	27101711	27101309	27101309	Nonsense_Mutation	G	T	p.E1531*
LGG	TCGA-DU-6410-01	exon_skip_2974	27100820	27101711	27101342	27101342	Nonsense_Mutation	G	T	p.E1542*
LGG	TCGA-DU-6410-01	exon_skip_2974	27100820	27101711	27101342	27101342	Nonsense_Mutation	G	T	p.E1542X
LIHC	TCGA-FV-A23B-01	exon_skip_2974	27100820	27101711	27101342	27101342	Nonsense_Mutation	G	T	p.E1542*
LIHC	TCGA-FV-A23B-01	exon_skip_2974	27100820	27101711	27101342	27101342	Nonsense_Mutation	G	T	p.E1542X
PAAD	TCGA-2J-AABA-01	exon_skip_2974	27100820	27101711	27101342	27101342	Nonsense_Mutation	G	T	p.E1542*
PAAD	TCGA-2J-AABA-01	exon_skip_2974	27100820	27101711	27101342	27101342	Nonsense_Mutation	G	T	p.E1542X
LUAD	TCGA-55-8089-01	exon_skip_2974	27100820	27101711	27101453	27101453	Nonsense_Mutation	C	T	p.Q1579*
BLCA	TCGA-FJ-A3Z9-01	exon_skip_2974	27100820	27101711	27101468	27101468	Nonsense_Mutation	C	T	p.Q1584*
UCEC	TCGA-BK-A0CA-01	exon_skip_2974	27100820	27101711	27101609	27101609	Nonsense_Mutation	C	T	p.Q1631*
UCEC	TCGA-BK-A0CA-01	exon_skip_2975	27101471	27101711	27101609	27101609	Nonsense_Mutation	C	T	p.Q1631*
UCEC	TCGA-AP-A059-01	exon_skip_2971	27088643	27088810	27088642	27088642	Splice_Site	G	T	e7-1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BR-6707-01
	Cancer type: STAD
	ESID: exon_skip_2975
	Skipped exon start: 27101471
	Skipped exon end: 27101711
	Mutation start: 27101593
	Mutation end: 27101593
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.I1625fs
	Sample: TCGA-BR-6707-01
	Cancer type: STAD
	ESID: exon_skip_2974
	Skipped exon start: 27100820
	Skipped exon end: 27101711
	Mutation start: 27101593
	Mutation end: 27101593
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.I1625fs
exon_skip_2975_STAD_TCGA-BR-6707-01.png
	Sample: TCGA-C5-A1MK-01
	Cancer type: CESC
	ESID: exon_skip_2974
	Skipped exon start: 27100820
	Skipped exon end: 27101711
	Mutation start: 27100988
	Mutation end: 27100988
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q1424*
exon_skip_2974_CESC_TCGA-C5-A1MK-01.png
	Sample: TCGA-55-8089-01
	Cancer type: LUAD
	ESID: exon_skip_2974
	Skipped exon start: 27100820
	Skipped exon end: 27101711
	Mutation start: 27101453
	Mutation end: 27101453
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q1579*
exon_skip_2974_LUAD_TCGA-55-8089-01.png
	Sample: TCGA-A8-A06N-01
	Cancer type: BRCA
	ESID: exon_skip_2974
	Skipped exon start: 27100820
	Skipped exon end: 27101711
	Mutation start: 27101427
	Mutation end: 27101428
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: TA
	AAchange: p.N1571fs
exon_skip_134821_BRCA_TCGA-A8-A06N-01.png
exon_skip_2974_BRCA_TCGA-A8-A06N-01.png
	Sample: TCGA-BR-4370-01
	Cancer type: STAD
	ESID: exon_skip_2974
	Skipped exon start: 27100820
	Skipped exon end: 27101711
	Mutation start: 27101268
	Mutation end: 27101268
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.A1517fs
exon_skip_140730_STAD_TCGA-BR-4370-01.png
exon_skip_2974_STAD_TCGA-BR-4370-01.png
exon_skip_330351_STAD_TCGA-BR-4370-01.png
exon_skip_357567_STAD_TCGA-BR-4370-01.png
exon_skip_357575_STAD_TCGA-BR-4370-01.png
exon_skip_357579_STAD_TCGA-BR-4370-01.png
exon_skip_372669_STAD_TCGA-BR-4370-01.png
exon_skip_383154_STAD_TCGA-BR-4370-01.png
exon_skip_383156_STAD_TCGA-BR-4370-01.png
exon_skip_389202_STAD_TCGA-BR-4370-01.png
exon_skip_42584_STAD_TCGA-BR-4370-01.png
exon_skip_439047_STAD_TCGA-BR-4370-01.png
exon_skip_439048_STAD_TCGA-BR-4370-01.png
exon_skip_450406_STAD_TCGA-BR-4370-01.png
exon_skip_483956_STAD_TCGA-BR-4370-01.png
	Sample: TCGA-BR-6707-01
	Cancer type: STAD
	ESID: exon_skip_2975
	Skipped exon start: 27101471
	Skipped exon end: 27101711
	Mutation start: 27101593
	Mutation end: 27101593
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.I1625fs
	Sample: TCGA-BR-6707-01
	Cancer type: STAD
	ESID: exon_skip_2974
	Skipped exon start: 27100820
	Skipped exon end: 27101711
	Mutation start: 27101593
	Mutation end: 27101593
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.I1625fs
exon_skip_2975_STAD_TCGA-BR-6707-01.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
NY_BONE	27056142	27056354	27056231	27056231	Frame_Shift_Del	A	-	p.S409fs
ES4_BONE	27056142	27056354	27056342	27056343	Frame_Shift_Del	TT	-	p.Y447fs
C33A_CERVIX	27088643	27088810	27088659	27088659	Frame_Shift_Del	C	-	p.N756fs
TOV21G_OVARY	27088643	27088810	27088659	27088659	Frame_Shift_Del	C	-	p.N756fs
NCIH1436_LUNG	27088643	27088810	27088682	27088682	Frame_Shift_Del	C	-	p.S764fs
SNUC5_LARGE_INTESTINE	27088643	27088810	27088682	27088682	Frame_Shift_Del	C	-	p.S764fs
PACADD137_PANCREAS	27097610	27097817	27097622	27097622	Frame_Shift_Del	A	-	p.K1072fs
HEC108_ENDOMETRIUM	27097610	27097817	27097622	27097622	Frame_Shift_Del	A	-	p.K1072fs
GP2D_LARGE_INTESTINE	27097610	27097817	27097622	27097622	Frame_Shift_Del	A	-	p.K1072fs
GP5D_LARGE_INTESTINE	27097610	27097817	27097622	27097622	Frame_Shift_Del	A	-	p.K1072fs
LS180_LARGE_INTESTINE	27097610	27097817	27097688	27097688	Frame_Shift_Del	A	-	p.K1094fs
EN_ENDOMETRIUM	27097610	27097817	27097688	27097688	Frame_Shift_Del	A	-	p.K1094fs
JHUEM2_ENDOMETRIUM	27097610	27097817	27097708	27097709	Frame_Shift_Del	TC	-	p.L1100fs
RKO_LARGE_INTESTINE	27097610	27097817	27097751	27097751	Frame_Shift_Del	C	-	p.P1115fs
ES1_BONE	27097610	27097817	27097757	27097757	Frame_Shift_Del	G	-	p.D1116fs
DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27097610	27097817	27097762	27097772	Frame_Shift_Del	CTTTGCAGCTG	-	p.FAAA1118fs
OCUM1_STOMACH	27097610	27097817	27097801	27097801	Frame_Shift_Del	C	-	p.I1130fs
TCCSUP_URINARY_TRACT	27100820	27101711	27101068	27101068	Frame_Shift_Del	C	-	p.G1450fs
HEC265_ENDOMETRIUM	27100820	27101711	27101117	27101117	Frame_Shift_Del	C	-	p.P1468fs
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27100820	27101711	27101259	27101259	Frame_Shift_Del	C	-	p.T1514fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27100820	27101711	27101268	27101268	Frame_Shift_Del	C	-	p.A1517fs
SNU1_STOMACH	27100820	27101711	27101268	27101268	Frame_Shift_Del	C	-	p.A1517fs
SNU1040_LARGE_INTESTINE	27100820	27101711	27101402	27101402	Frame_Shift_Del	C	-	p.P1563fs
SW48_LARGE_INTESTINE	27100820	27101711	27101402	27101402	Frame_Shift_Del	C	-	p.P1563fs
JHUEM3_ENDOMETRIUM	27094281	27094490	27094361	27094362	Frame_Shift_Ins	-	GT	p.V1024fs
SNUC5_LARGE_INTESTINE	27097610	27097817	27097621	27097622	Frame_Shift_Ins	-	A	p.K1071fs
COGN278_AUTONOMIC_GANGLIA	27097610	27097817	27097639	27097640	Frame_Shift_Ins	-	G	p.A1077fs
OAW42_OVARY	27097610	27097817	27097762	27097763	Frame_Shift_Ins	-	T	p.F1118fs
MDAMB175VII_BREAST	27100820	27101711	27101214	27101215	Frame_Shift_Ins	-	G	p.QG1499fs
MESSA_SOFT_TISSUE	27101471	27101711	27101543	27101544	Frame_Shift_Ins	-	C	p.S1609fs
MESSA_SOFT_TISSUE	27100820	27101711	27101543	27101544	Frame_Shift_Ins	-	C	p.S1609fs
HPAC_PANCREAS	27101471	27101711	27101611	27101612	Frame_Shift_Ins	-	C	p.P1632fs
HPAC_PANCREAS	27100820	27101711	27101611	27101612	Frame_Shift_Ins	-	C	p.P1632fs
BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27101471	27101711	27101662	27101663	Frame_Shift_Ins	-	A	p.T1649fs
BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27100820	27101711	27101662	27101663	Frame_Shift_Ins	-	A	p.T1649fs
RH4_SOFT_TISSUE	27094281	27094490	27094289	27094291	In_Frame_Del	TTC	-	p.999_1000SS>S
SNU1040_LARGE_INTESTINE	27056142	27056354	27056209	27056209	Missense_Mutation	C	T	p.S402L
HEC1A_ENDOMETRIUM	27056142	27056354	27056216	27056216	Missense_Mutation	A	T	p.Q404H
FTC238_THYROID	27056142	27056354	27056278	27056278	Missense_Mutation	A	G	p.Q425R
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27056142	27056354	27056293	27056293	Missense_Mutation	A	G	p.Y430C
HS746T_STOMACH	27056142	27056354	27056334	27056334	Missense_Mutation	G	A	p.G444S
HUH28_BILIARY_TRACT	27088643	27088810	27088666	27088666	Missense_Mutation	A	G	p.M759V
COLO792_SKIN	27088643	27088810	27088682	27088682	Missense_Mutation	C	T	p.S764F
SNU1040_LARGE_INTESTINE	27088643	27088810	27088711	27088711	Missense_Mutation	C	T	p.R774C
JHUEM1_ENDOMETRIUM	27088643	27088810	27088711	27088711	Missense_Mutation	C	T	p.R774C
IGR1_SKIN	27088643	27088810	27088717	27088717	Missense_Mutation	C	T	p.P776S
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27094281	27094490	27094450	27094450	Missense_Mutation	G	A	p.R1053H
MDAMB361_BREAST	27094281	27094490	27094465	27094465	Missense_Mutation	T	G	p.V1058G
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27097610	27097817	27097737	27097737	Missense_Mutation	G	A	p.R1109Q
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27100820	27101711	27100914	27100914	Missense_Mutation	A	C	p.Q1399P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27100820	27101711	27101050	27101050	Missense_Mutation	G	T	p.E1444D
BICR18_UPPER_AERODIGESTIVE_TRACT	27100820	27101711	27101050	27101050	Missense_Mutation	G	T	p.E1444D
SKMEL28_SKIN	27100820	27101711	27101085	27101085	Missense_Mutation	C	T	p.P1456L
PECAPJ49_UPPER_AERODIGESTIVE_TRACT	27100820	27101711	27101088	27101088	Missense_Mutation	T	C	p.F1457S
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27100820	27101711	27101106	27101106	Missense_Mutation	G	A	p.R1463H
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27100820	27101711	27101421	27101421	Missense_Mutation	C	A	p.P1568H
MFE319_ENDOMETRIUM	27100820	27101711	27101445	27101445	Missense_Mutation	C	T	p.P1576L
BICR18_UPPER_AERODIGESTIVE_TRACT	27100820	27101711	27101454	27101454	Missense_Mutation	A	C	p.Q1579P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27100820	27101711	27101454	27101454	Missense_Mutation	A	C	p.Q1579P
NCIH513_PLEURA	27101471	27101711	27101620	27101620	Missense_Mutation	G	T	p.M1634I
NCIH513_PLEURA	27100820	27101711	27101620	27101620	Missense_Mutation	G	T	p.M1634I
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27101471	27101711	27101691	27101691	Missense_Mutation	G	A	p.R1658Q
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27100820	27101711	27101691	27101691	Missense_Mutation	G	A	p.R1658Q
HEC59_ENDOMETRIUM	27056142	27056354	27056286	27056286	Nonsense_Mutation	C	T	p.Q428*
HCC2450_LUNG	27088643	27088810	27088795	27088795	Nonsense_Mutation	C	T	p.Q802*
U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27094281	27094490	27094361	27094361	Nonsense_Mutation	G	A	p.W1023*
KU1919_URINARY_TRACT	27094281	27094490	27094448	27094448	Nonsense_Mutation	T	G	p.Y1052*
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27097610	27097817	27097634	27097634	Nonsense_Mutation	G	T	p.E1075*
CW2_LARGE_INTESTINE	27100820	27101711	27100922	27100922	Nonsense_Mutation	C	T	p.Q1402*
NCIH1563_LUNG	27100820	27101711	27100949	27100949	Nonsense_Mutation	C	T	p.Q1411*
A2780_OVARY	27100820	27101711	27101006	27101006	Nonsense_Mutation	C	T	p.Q1430*
HEC108_ENDOMETRIUM	27100820	27101711	27101054	27101054	Nonsense_Mutation	C	T	p.R1446*
U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27100820	27101711	27101054	27101054	Nonsense_Mutation	C	T	p.R1446*
SNU216_STOMACH	27100820	27101711	27101090	27101090	Nonsense_Mutation	C	T	p.Q1458*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARID1A

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 ARID1A

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARID1A

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RelatedDrugs for ARID1A

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 ARID1A

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ARID1A	C0038356	Stomach Neoplasms	3	CTD_human
ARID1A	C2239176	Liver carcinoma	3	CTD_human
ARID1A	C0001418	Adenocarcinoma	1	CTD_human
ARID1A	C0005695	Bladder Neoplasm	1	CTD_human
ARID1A	C0006413	Burkitt Lymphoma	1	CTD_human
ARID1A	C0007138	Carcinoma, Transitional Cell	1	CTD_human
ARID1A	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
ARID1A	C0014170	Endometrial Neoplasms	1	CTD_human
ARID1A	C0027819	Neuroblastoma	1	CTD_human
ARID1A	C0036920	Sezary Syndrome	1	CTD_human
ARID1A	C0079772	T-Cell Lymphoma	1	CTD_human
ARID1A	C0079773	Lymphoma, T-Cell, Cutaneous	1	CTD_human
ARID1A	C0206698	Cholangiocarcinoma	1	CTD_human
ARID1A	C0265338	Coffin-Siris syndrome	1	CTD_human;ORPHANET
ARID1A	C0279628	Adenocarcinoma Of Esophagus	1	CTD_human
ARID1A	C0920269	Microsatellite Instability	1	CTD_human
ARID1A	C2931822	Nasopharyngeal carcinoma	1	CTD_human

	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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