ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for AKAP9

Gene summary

Gene information	Gene symbol	AKAP9
	Gene ID	10142
	Gene name	A-kinase anchoring protein 9
	Synonyms	AKAP-9\|AKAP350\|AKAP450\|CG-NAP\|HYPERION\|LQT11\|MU-RMS-40.16A\|PPP1R45\|PRKA9\|YOTIAO
	Cytomap	7q21.2
	Type of gene	protein-coding
	Description	A-kinase anchor protein 9A kinase (PRKA) anchor protein (yotiao) 9A kinase (PRKA) anchor protein 9A-kinase anchor protein 350 kDaA-kinase anchor protein 450 kDaAKAP 120-like proteinAKAP9-BRAF fusion proteincentrosome- and Golgi-localized PKN-associ
	Modification date	20180523
	UniProtAcc	Q99996
	Context	PubMed: AKAP9 [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
AKAP9	GO:1903358	regulation of Golgi organization	27666745

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Exon skipping events across known transcript of Ensembl for AKAP9 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 AKAP9

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 AKAP9

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_468099	7	91570408:91570461:91599786:91599822:91603024:91603282	91599786:91599822	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000493453.1
exon_skip_468100	7	91570239:91570461:91603024:91603282:91609602:91609647	91603024:91603282	ENSG00000127914.12	ENST00000394564.1
exon_skip_468104	7	91603069:91603282:91609602:91609647:91621471:91621525	91609602:91609647	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3,ENST00000394564.1,ENST00000493453.1
exon_skip_468108	7	91609602:91609647:91621471:91621525:91622198:91622369	91621471:91621525	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3,ENST00000394564.1,ENST00000493453.1
exon_skip_468110	7	91623934:91624090:91624916:91625114:91630161:91632549	91624916:91625114	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3,ENST00000493453.1
exon_skip_468112	7	91630161:91632549:91641742:91641956:91643562:91643642	91641742:91641956	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3,ENST00000493453.1
exon_skip_468115	7	91641814:91641956:91643562:91643642:91645442:91645581	91643562:91643642	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3,ENST00000493453.1
exon_skip_468116	7	91659208:91659305:91660825:91660918:91667732:91668086	91660825:91660918	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3,ENST00000493453.1
exon_skip_468120	7	91660825:91660918:91667732:91668086:91669987:91670212	91667732:91668086	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3,ENST00000493453.1
exon_skip_468121	7	91670017:91670212:91671359:91671500:91671981:91672085	91671359:91671500	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3
exon_skip_468124	7	91682045:91682272:91690573:91690736:91691587:91691800	91690573:91690736	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3
exon_skip_468126	7	91691587:91691800:91694544:91694777:91695740:91695860	91694544:91694777	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3
exon_skip_468128	7	91695740:91695860:91699343:91699520:91700218:91700323	91699343:91699520	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3
exon_skip_468129	7	91699451:91699496:91700218:91700323:91706168:91706321	91700218:91700323	ENSG00000127914.12	ENST00000394534.2
exon_skip_468130	7	91699343:91699520:91700218:91700323:91706168:91706321	91700218:91700323	ENSG00000127914.12	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3
exon_skip_468132	7	91700218:91700323:91706168:91706321:91707009:91707189	91706168:91706321	ENSG00000127914.12	ENST00000358100.2,ENST00000394534.2,ENST00000359028.2,ENST00000356239.3
exon_skip_468133	7	91707009:91707189:91708392:91709466:91711835:91711976	91708392:91709466	ENSG00000127914.12	ENST00000358100.2,ENST00000394534.2,ENST00000359028.2,ENST00000356239.3
exon_skip_468138	7	91713953:91714017:91714132:91714254:91714808:91715000	91714132:91714254	ENSG00000127914.12	ENST00000394534.2,ENST00000435423.1,ENST00000356239.3
exon_skip_468140	7	91714898:91715000:91715541:91715730:91718698:91718843	91715541:91715730	ENSG00000127914.12	ENST00000358100.2,ENST00000394534.2,ENST00000435423.1,ENST00000359028.2,ENST00000356239.3
exon_skip_468142	7	91718698:91718843:91722410:91722630:91724336:91724487	91722410:91722630	ENSG00000127914.12	ENST00000358100.2,ENST00000394534.2,ENST00000359028.2,ENST00000356239.3
exon_skip_468146	7	91727467:91727528:91729000:91729183:91730169:91730370	91729000:91729183	ENSG00000127914.12	ENST00000358100.2,ENST00000394534.2,ENST00000463118.1,ENST00000487258.1,ENST00000359028.2,ENST00000356239.3
exon_skip_468148	7	91730169:91730370:91731907:91732140:91734991:91735077	91731907:91732140	ENSG00000127914.12	ENST00000358100.2,ENST00000394534.2,ENST00000487258.1,ENST00000359028.2,ENST00000356239.3
exon_skip_468149	7	91730169:91730370:91732000:91732140:91734991:91735077	91732000:91732140	ENSG00000127914.12	ENST00000463118.1
exon_skip_468150	7	91732000:91732140:91734991:91735077:91736606:91736736	91734991:91735077	ENSG00000127914.12	ENST00000358100.2,ENST00000394534.2,ENST00000463118.1,ENST00000487258.1,ENST00000359028.2,ENST00000356239.3
exon_skip_468158	7	91734991:91735077:91736606:91736736:91737807:91737947	91736606:91736736	ENSG00000127914.12	ENST00000358100.2,ENST00000394534.2,ENST00000487258.1,ENST00000359028.2,ENST00000356239.3
exon_skip_468163	7	91736606:91736736:91737807:91737947:91739435:91739781	91737807:91737947	ENSG00000127914.12	ENST00000358100.2,ENST00000487258.1,ENST00000359028.2,ENST00000356239.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for AKAP9

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_468099	7	91570408:91570461:91599786:91599822:91603024:91603282	91599786:91599822	ENSG00000127914.12	ENST00000359028.2,ENST00000358100.2,ENST00000493453.1
exon_skip_468100	7	91570239:91570461:91603024:91603282:91609602:91609647	91603024:91603282	ENSG00000127914.12	ENST00000394564.1
exon_skip_468108	7	91609602:91609647:91621471:91621525:91622198:91622369	91621471:91621525	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000493453.1,ENST00000394564.1
exon_skip_468112	7	91630161:91632549:91641742:91641956:91643562:91643642	91641742:91641956	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000493453.1
exon_skip_468115	7	91641814:91641956:91643562:91643642:91645442:91645581	91643562:91643642	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000493453.1
exon_skip_468116	7	91659208:91659305:91660825:91660918:91667732:91668086	91660825:91660918	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000493453.1
exon_skip_468120	7	91660825:91660918:91667732:91668086:91669987:91670212	91667732:91668086	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000493453.1
exon_skip_468121	7	91670017:91670212:91671359:91671500:91671981:91672085	91671359:91671500	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2
exon_skip_468124	7	91682045:91682272:91690573:91690736:91691587:91691800	91690573:91690736	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2
exon_skip_468126	7	91691587:91691800:91694544:91694777:91695740:91695860	91694544:91694777	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2
exon_skip_468128	7	91695740:91695860:91699343:91699520:91700218:91700323	91699343:91699520	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2
exon_skip_468129	7	91699451:91699496:91700218:91700323:91706168:91706321	91700218:91700323	ENSG00000127914.12	ENST00000394534.2
exon_skip_468130	7	91699343:91699520:91700218:91700323:91706168:91706321	91700218:91700323	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2
exon_skip_468132	7	91700218:91700323:91706168:91706321:91707009:91707189	91706168:91706321	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000394534.2
exon_skip_468133	7	91707009:91707189:91708392:91709466:91711835:91711976	91708392:91709466	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000394534.2
exon_skip_468138	7	91713953:91714017:91714132:91714254:91714808:91715000	91714132:91714254	ENSG00000127914.12	ENST00000356239.3,ENST00000394534.2,ENST00000435423.1
exon_skip_468140	7	91714898:91715000:91715541:91715730:91718698:91718843	91715541:91715730	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000394534.2,ENST00000435423.1
exon_skip_468142	7	91718698:91718843:91722410:91722630:91724336:91724487	91722410:91722630	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000394534.2
exon_skip_468146	7	91727467:91727528:91729000:91729183:91730169:91730370	91729000:91729183	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000394534.2,ENST00000487258.1,ENST00000463118.1
exon_skip_468148	7	91730169:91730370:91731907:91732140:91734991:91735077	91731907:91732140	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000394534.2,ENST00000487258.1
exon_skip_468149	7	91730169:91730370:91732000:91732140:91734991:91735077	91732000:91732140	ENSG00000127914.12	ENST00000463118.1
exon_skip_468150	7	91732000:91732140:91734991:91735077:91736606:91736736	91734991:91735077	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000394534.2,ENST00000487258.1,ENST00000463118.1
exon_skip_468158	7	91734991:91735077:91736606:91736736:91737807:91737947	91736606:91736736	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000394534.2,ENST00000487258.1
exon_skip_468163	7	91736606:91736736:91737807:91737947:91739435:91739781	91737807:91737947	ENSG00000127914.12	ENST00000356239.3,ENST00000359028.2,ENST00000358100.2,ENST00000487258.1

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 AKAP9

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

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

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Infer the effects of exon skipping event on protein functional features for AKAP9

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

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

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 AKAP9

- 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.

AKAP9_COAD_exon_skip_468121_psi_boxplot.png
boxplot

AKAP9_COAD_exon_skip_468148_psi_boxplot.png
boxplot

AKAP9_KIRC_exon_skip_468148_psi_boxplot.png
boxplot

AKAP9_LGG_exon_skip_468140_psi_boxplot.png
boxplot

AKAP9_LIHC_exon_skip_468148_psi_boxplot.png
boxplot

AKAP9_LUAD_exon_skip_468148_psi_boxplot.png
boxplot

AKAP9_SKCM_exon_skip_468140_psi_boxplot.png
boxplot

AKAP9_SKCM_exon_skip_468148_psi_boxplot.png
boxplot

AKAP9_STAD_exon_skip_468148_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
COAD	TCGA-G4-6309-01	exon_skip_468100	91603025	91603282	91603085	91603085	Frame_Shift_Del	A	-	p.Q36fs
ESCA	TCGA-L5-A4OI-01	exon_skip_468100	91603025	91603282	91603085	91603085	Frame_Shift_Del	A	-	p.K51fs
ESCA	TCGA-L5-A8NM-01	exon_skip_468100	91603025	91603282	91603085	91603085	Frame_Shift_Del	A	-	p.K51fs
LIHC	TCGA-DD-A3A0-01	exon_skip_468100	91603025	91603282	91603085	91603085	Frame_Shift_Del	A	-	p.K51fs
STAD	TCGA-R5-A7ZI-01	exon_skip_468100	91603025	91603282	91603085	91603085	Frame_Shift_Del	A	-	p.K51fs
STAD	TCGA-R5-A7ZI-01	exon_skip_468100	91603025	91603282	91603085	91603085	Frame_Shift_Del	A	-	p.Q36fs
BRCA	TCGA-E2-A155-01	exon_skip_468100	91603025	91603282	91603204	91603204	Frame_Shift_Del	T	-	p.V77fs
LIHC	TCGA-DD-A39Y-01	exon_skip_468100	91603025	91603282	91603248	91603248	Frame_Shift_Del	A	-	p.E103fs
LIHC	TCGA-DD-A3A0-01	exon_skip_468112	91641743	91641956	91641911	91641911	Frame_Shift_Del	A	-	p.K1175fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_468115	91643563	91643642	91643597	91643597	Frame_Shift_Del	A	-	p.G1201fs
LIHC	TCGA-DD-A3A0-01	exon_skip_468115	91643563	91643642	91643633	91643633	Frame_Shift_Del	T	-	p.Y1213fs
LIHC	TCGA-DD-A39Y-01	exon_skip_468120	91667733	91668086	91667987	91667987	Frame_Shift_Del	A	-	p.S1543fs
COAD	TCGA-AA-3663-01	exon_skip_468121	91671360	91671500	91671392	91671393	Frame_Shift_Del	AG	-	p.1650_1650del
COAD	TCGA-AA-3713-01	exon_skip_468121	91671360	91671500	91671392	91671393	Frame_Shift_Del	AG	-	p.1650_1650del
UCEC	TCGA-B5-A0K9-01	exon_skip_468121	91671360	91671500	91671392	91671393	Frame_Shift_Del	AG	-	p.R1654fs
UCEC	TCGA-B5-A0K9-01	exon_skip_468121	91671360	91671500	91671392	91671393	Frame_Shift_Del	AG	-	p.S1650fs
LIHC	TCGA-DD-A1EG-01	exon_skip_468126	91694545	91694777	91694755	91694755	Frame_Shift_Del	A	-	p.E2075fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_468126	91694545	91694777	91694755	91694755	Frame_Shift_Del	A	-	p.E2075fs
LIHC	TCGA-DD-A39Y-01	exon_skip_468126	91694545	91694777	91694769	91694769	Frame_Shift_Del	T	-	p.F2080fs
PRAD	TCGA-V1-A9Z9-01	exon_skip_468130 exon_skip_468129	91700219	91700323	91700316	91700316	Frame_Shift_Del	A	-	p.E2214fs
STAD	TCGA-BR-6852-01	exon_skip_468133	91708393	91709466	91708403	91708403	Frame_Shift_Del	A	-	p.E2319fs
KIRC	TCGA-B0-5110-01	exon_skip_468133	91708393	91709466	91708532	91708532	Frame_Shift_Del	A	-	p.E2362fs
KIRC	TCGA-B0-5110-01	exon_skip_468133	91708393	91709466	91708532	91708532	Frame_Shift_Del	A	-	p.E2374fs
GBM	TCGA-28-5219-01	exon_skip_468133	91708393	91709466	91708676	91708676	Frame_Shift_Del	C	-	p.T2410fs
LIHC	TCGA-DD-A39Y-01	exon_skip_468133	91708393	91709466	91708684	91708684	Frame_Shift_Del	A	-	p.K2425fs
LIHC	TCGA-DD-A3A0-01	exon_skip_468133	91708393	91709466	91708684	91708684	Frame_Shift_Del	A	-	p.K2425fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_468133	91708393	91709466	91708684	91708684	Frame_Shift_Del	A	-	p.K2425fs
LIHC	TCGA-DD-A3A0-01	exon_skip_468133	91708393	91709466	91708696	91708696	Frame_Shift_Del	A	-	p.K2429fs
LIHC	TCGA-DD-A3A0-01	exon_skip_468133	91708393	91709466	91708711	91708711	Frame_Shift_Del	A	-	p.K2434fs
LIHC	TCGA-DD-A3A0-01	exon_skip_468133	91708393	91709466	91709093	91709093	Frame_Shift_Del	A	-	p.E2561fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_468133	91708393	91709466	91709282	91709282	Frame_Shift_Del	A	-	p.E2624fs
PRAD	TCGA-XK-AAIW-01	exon_skip_468133	91708393	91709466	91709345	91709345	Frame_Shift_Del	A	-	p.E2645fs
STAD	TCGA-CG-5721-01	exon_skip_468133	91708393	91709466	91709345	91709345	Frame_Shift_Del	A	-	p.E2633fs
UCEC	TCGA-AX-A05S-01	exon_skip_468133	91708393	91709466	91709345	91709345	Frame_Shift_Del	A	-	p.E2633fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_468148	91731908	91732140	91731983	91731983	Frame_Shift_Del	T	-	p.L3730fs
COAD	TCGA-CM-4743-01	exon_skip_468148	91731908	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3735fs
COAD	TCGA-CM-4743-01	exon_skip_468149	91732001	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3735fs
STAD	TCGA-BR-4362-01	exon_skip_468148	91731908	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3743fs
STAD	TCGA-BR-4362-01	exon_skip_468149	91732001	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3743fs
STAD	TCGA-BR-6566-01	exon_skip_468148	91731908	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3743fs
STAD	TCGA-BR-6566-01	exon_skip_468149	91732001	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3743fs
STAD	TCGA-BR-8591-01	exon_skip_468148	91731908	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3743fs
STAD	TCGA-BR-8591-01	exon_skip_468149	91732001	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3743fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_468150	91734992	91735077	91734999	91734999	Frame_Shift_Del	T	-	p.F3784fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_468150	91734992	91735077	91735036	91735036	Frame_Shift_Del	T	-	p.V3796fs
COAD	TCGA-CK-5916-01	exon_skip_468100	91603025	91603282	91603084	91603085	Frame_Shift_Ins	-	A	p.Q36fs
LUAD	TCGA-05-4398-01	exon_skip_468110	91624917	91625114	91625048	91625049	Frame_Shift_Ins	-	A	p.Q288fs
LUAD	TCGA-05-4398-01	exon_skip_468110	91624917	91625114	91625048	91625049	Frame_Shift_Ins	-	A	p.QK300fs
GBM	TCGA-19-1790-01	exon_skip_468120	91667733	91668086	91668077	91668078	Frame_Shift_Ins	-	GA	p.V1561fs
STAD	TCGA-BR-6852-01	exon_skip_468121	91671360	91671500	91671391	91671392	Frame_Shift_Ins	-	AG	p.S1650fs
STAD	TCGA-BR-6852-01	exon_skip_468121	91671360	91671500	91671392	91671393	Frame_Shift_Ins	-	AG	p.S1650fs
LIHC	TCGA-BC-A112-01	exon_skip_468133	91708393	91709466	91709320	91709321	Frame_Shift_Ins	-	A	p.K2637fs
COAD	TCGA-CM-4746-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.M3735fs
COAD	TCGA-CM-4746-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.M3735fs
COAD	TCGA-D5-6927-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.M3735fs
COAD	TCGA-D5-6927-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.M3735fs
COAD	TCGA-D5-6930-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.M3735fs
COAD	TCGA-D5-6930-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.M3735fs
KIRC	TCGA-A3-3316-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3316-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3346-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3346-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3363-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3363-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3365-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3365-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3374-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3374-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3378-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3378-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3380-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3380-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3382-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-A3-3382-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-AK-3440-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-AK-3440-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-AK-3447-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
KIRC	TCGA-AK-3447-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
LUAD	TCGA-44-2666-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
LUAD	TCGA-44-2666-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
LUAD	TCGA-64-1678-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
LUAD	TCGA-64-1678-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
LUAD	TCGA-64-1680-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
LUAD	TCGA-64-1680-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
LUAD	TCGA-67-3770-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
LUAD	TCGA-67-3770-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.R3747fs
STAD	TCGA-HU-A4GU-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.M3743fs
STAD	TCGA-HU-A4GU-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.M3743fs
UCEC	TCGA-BG-A0M3-01	exon_skip_468148	91731908	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.M3743fs
UCEC	TCGA-BG-A0M3-01	exon_skip_468149	91732001	91732140	91732038	91732039	Frame_Shift_Ins	-	G	p.M3743fs
UCEC	TCGA-B5-A0JY-01	exon_skip_468110	91624917	91625114	91625058	91625058	Nonsense_Mutation	G	T	p.E292*
HNSC	TCGA-CN-A497-01	exon_skip_468115	91643563	91643642	91643574	91643574	Nonsense_Mutation	A	T	p.K1194*
THYM	TCGA-XU-AAXW-01	exon_skip_468116	91660826	91660918	91660853	91660853	Nonsense_Mutation	G	T	p.E1425X
COAD	TCGA-D5-6926-01	exon_skip_468120	91667733	91668086	91667980	91667980	Nonsense_Mutation	T	G	p.L1529X
KIRC	TCGA-B0-4827-01	exon_skip_468120	91667733	91668086	91668040	91668040	Nonsense_Mutation	C	G	p.S1549X
KIRC	TCGA-B0-4827-01	exon_skip_468120	91667733	91668086	91668040	91668040	Nonsense_Mutation	C	G	p.S1561*
SKCM	TCGA-D3-A5GU-06	exon_skip_468124	91690574	91690736	91690670	91690670	Nonsense_Mutation	C	T	p.R1900X
SKCM	TCGA-D3-A5GU-06	exon_skip_468124	91690574	91690736	91690670	91690670	Nonsense_Mutation	C	T	p.R1912*
UCEC	TCGA-B5-A0JY-01	exon_skip_468126	91694545	91694777	91694548	91694548	Nonsense_Mutation	T	G	p.L1994*
SARC	TCGA-DX-AB2W-01	exon_skip_468126	91694545	91694777	91694631	91694631	Nonsense_Mutation	C	T	p.Q2034*
SKCM	TCGA-D3-A8GO-06	exon_skip_468126	91694545	91694777	91694733	91694733	Nonsense_Mutation	C	T	p.Q2068*
LUSC	TCGA-34-5928-01	exon_skip_468128	91699344	91699520	91699518	91699518	Nonsense_Mutation	A	T	p.K2169*
UCEC	TCGA-BS-A0TC-01	exon_skip_468132	91706169	91706321	91706314	91706314	Nonsense_Mutation	T	G	p.L2253*
SKCM	TCGA-EE-A2GC-06	exon_skip_468133	91708393	91709466	91708885	91708885	Nonsense_Mutation	C	T	p.Q2472X
SKCM	TCGA-EE-A2GC-06	exon_skip_468133	91708393	91709466	91708885	91708885	Nonsense_Mutation	C	T	p.Q2492*
HNSC	TCGA-MZ-A7D7-01	exon_skip_468133	91708393	91709466	91708996	91708996	Nonsense_Mutation	C	T	p.Q2529*
LUSC	TCGA-18-3406-01	exon_skip_468133	91708393	91709466	91709170	91709170	Nonsense_Mutation	C	T	p.Q2575*
UCEC	TCGA-AX-A0J0-01	exon_skip_468133	91708393	91709466	91709428	91709428	Nonsense_Mutation	G	T	p.E2661*
LGG	TCGA-DU-6392-01	exon_skip_468140	91715542	91715730	91715584	91715584	Nonsense_Mutation	C	T	p.R3027*
SKCM	TCGA-D3-A2J8-06	exon_skip_468140	91715542	91715730	91715708	91715708	Nonsense_Mutation	T	A	p.L3056X
SKCM	TCGA-D3-A2J8-06	exon_skip_468140	91715542	91715730	91715708	91715708	Nonsense_Mutation	T	A	p.L3068*
OV	TCGA-13-0887-01	exon_skip_468142	91722411	91722630	91722506	91722506	Nonsense_Mutation	G	T	p.E3152*
SKCM	TCGA-FS-A1ZW-06	exon_skip_468142	91722411	91722630	91722539	91722539	Nonsense_Mutation	G	T	p.E3155X
SKCM	TCGA-FS-A1ZW-06	exon_skip_468142	91722411	91722630	91722539	91722539	Nonsense_Mutation	G	T	p.E3167*
COAD	TCGA-CA-6717-01	exon_skip_468148	91731908	91732140	91731944	91731944	Nonsense_Mutation	C	T	p.R3704X
SKCM	TCGA-EE-A29E-06	exon_skip_468148	91731908	91732140	91731944	91731944	Nonsense_Mutation	C	T	p.R3716*
KIRC	TCGA-A3-3374-01	exon_skip_468150	91734992	91735077	91735015	91735015	Nonsense_Mutation	G	A	p.W3789*
HNSC	TCGA-BB-A5HY-01	exon_skip_468150	91734992	91735077	91735020	91735020	Nonsense_Mutation	C	T	p.R3791*
UCEC	TCGA-B5-A11E-01	exon_skip_468150	91734992	91735077	91735020	91735020	Nonsense_Mutation	C	T	p.R3787*
LIHC	TCGA-DD-A119-01	exon_skip_468132	91706169	91706321	91706167	91706167	Splice_Site	A	G	.
UCEC	TCGA-A5-A0VP-01	exon_skip_468146	91729001	91729183	91729000	91729000	Splice_Site	G	A	e44-1
LGG	TCGA-HT-8564-01	exon_skip_468163	91737808	91737947	91737807	91737807	Splice_Site	G	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BR-8591-01
	Cancer type: STAD
	ESID: exon_skip_468148
	Skipped exon start: 91731908
	Skipped exon end: 91732140
	Mutation start: 91732039
	Mutation end: 91732039
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.M3743fs
	Sample: TCGA-BR-8591-01
	Cancer type: STAD
	ESID: exon_skip_468149
	Skipped exon start: 91732001
	Skipped exon end: 91732140
	Mutation start: 91732039
	Mutation end: 91732039
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.M3743fs
exon_skip_139886_STAD_TCGA-BR-8591-01.png
exon_skip_22733_STAD_TCGA-BR-8591-01.png
exon_skip_344506_STAD_TCGA-BR-8591-01.png
exon_skip_344507_STAD_TCGA-BR-8591-01.png
exon_skip_347690_STAD_TCGA-BR-8591-01.png
exon_skip_461353_STAD_TCGA-BR-8591-01.png
exon_skip_462689_STAD_TCGA-BR-8591-01.png
exon_skip_463441_STAD_TCGA-BR-8591-01.png
exon_skip_468148_STAD_TCGA-BR-8591-01.png
exon_skip_468149_STAD_TCGA-BR-8591-01.png
exon_skip_487281_STAD_TCGA-BR-8591-01.png
exon_skip_496407_STAD_TCGA-BR-8591-01.png
exon_skip_508189_STAD_TCGA-BR-8591-01.png
exon_skip_84502_STAD_TCGA-BR-8591-01.png
	Sample: TCGA-BR-8591-01
	Cancer type: STAD
	ESID: exon_skip_468148
	Skipped exon start: 91731908
	Skipped exon end: 91732140
	Mutation start: 91732039
	Mutation end: 91732039
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.M3743fs
	Sample: TCGA-BR-8591-01
	Cancer type: STAD
	ESID: exon_skip_468149
	Skipped exon start: 91732001
	Skipped exon end: 91732140
	Mutation start: 91732039
	Mutation end: 91732039
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.M3743fs
exon_skip_139886_STAD_TCGA-BR-8591-01.png
exon_skip_22733_STAD_TCGA-BR-8591-01.png
exon_skip_344506_STAD_TCGA-BR-8591-01.png
exon_skip_344507_STAD_TCGA-BR-8591-01.png
exon_skip_347690_STAD_TCGA-BR-8591-01.png
exon_skip_461353_STAD_TCGA-BR-8591-01.png
exon_skip_462689_STAD_TCGA-BR-8591-01.png
exon_skip_463441_STAD_TCGA-BR-8591-01.png
exon_skip_468148_STAD_TCGA-BR-8591-01.png
exon_skip_468149_STAD_TCGA-BR-8591-01.png
exon_skip_487281_STAD_TCGA-BR-8591-01.png
exon_skip_496407_STAD_TCGA-BR-8591-01.png
exon_skip_508189_STAD_TCGA-BR-8591-01.png
exon_skip_84502_STAD_TCGA-BR-8591-01.png
	Sample: TCGA-D3-A2J8-06
	Cancer type: SKCM
	ESID: exon_skip_468140
	Skipped exon start: 91715542
	Skipped exon end: 91715730
	Mutation start: 91715708
	Mutation end: 91715708
	Mutation type: Nonsense_Mutation
	Reference seq: T
	Mutation seq: A
	AAchange: p.L3056X
	Sample: TCGA-D3-A2J8-06
	Cancer type: SKCM
	ESID: exon_skip_468140
	Skipped exon start: 91715542
	Skipped exon end: 91715730
	Mutation start: 91715708
	Mutation end: 91715708
	Mutation type: Nonsense_Mutation
	Reference seq: T
	Mutation seq: A
	AAchange: p.L3068*
exon_skip_468140_SKCM_TCGA-D3-A2J8-06.png
	Sample: TCGA-AA-3713-01
	Cancer type: COAD
	ESID: exon_skip_468121
	Skipped exon start: 91671360
	Skipped exon end: 91671500
	Mutation start: 91671392
	Mutation end: 91671393
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.1650_1650del
exon_skip_133096_COAD_TCGA-AA-3713-01.png
exon_skip_26067_COAD_TCGA-AA-3713-01.png
exon_skip_37475_COAD_TCGA-AA-3713-01.png
exon_skip_450406_COAD_TCGA-AA-3713-01.png
exon_skip_461886_COAD_TCGA-AA-3713-01.png
exon_skip_468121_COAD_TCGA-AA-3713-01.png
exon_skip_489166_COAD_TCGA-AA-3713-01.png
exon_skip_49506_COAD_TCGA-AA-3713-01.png
exon_skip_51251_COAD_TCGA-AA-3713-01.png
exon_skip_517478_COAD_TCGA-AA-3713-01.png
exon_skip_62245_COAD_TCGA-AA-3713-01.png
exon_skip_73552_COAD_TCGA-AA-3713-01.png
	Sample: TCGA-BR-6852-01
	Cancer type: STAD
	ESID: exon_skip_468133
	Skipped exon start: 91708393
	Skipped exon end: 91709466
	Mutation start: 91708403
	Mutation end: 91708403
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.E2319fs
	Sample: TCGA-BR-6852-01
	Cancer type: STAD
	ESID: exon_skip_468121
	Skipped exon start: 91671360
	Skipped exon end: 91671500
	Mutation start: 91671391
	Mutation end: 91671392
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: AG
	AAchange: p.S1650fs
	Sample: TCGA-BR-6852-01
	Cancer type: STAD
	ESID: exon_skip_468121
	Skipped exon start: 91671360
	Skipped exon end: 91671500
	Mutation start: 91671392
	Mutation end: 91671393
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: AG
	AAchange: p.S1650fs
exon_skip_347530_STAD_TCGA-BR-6852-01.png
exon_skip_374468_STAD_TCGA-BR-6852-01.png
exon_skip_374469_STAD_TCGA-BR-6852-01.png
exon_skip_383994_STAD_TCGA-BR-6852-01.png
exon_skip_425876_STAD_TCGA-BR-6852-01.png
exon_skip_468121_STAD_TCGA-BR-6852-01.png
exon_skip_500520_STAD_TCGA-BR-6852-01.png
exon_skip_69752_STAD_TCGA-BR-6852-01.png
	Sample: TCGA-B5-A0K9-01
	Cancer type: UCEC
	ESID: exon_skip_468121
	Skipped exon start: 91671360
	Skipped exon end: 91671500
	Mutation start: 91671392
	Mutation end: 91671393
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.S1650fs
	Sample: TCGA-B5-A0K9-01
	Cancer type: UCEC
	ESID: exon_skip_468121
	Skipped exon start: 91671360
	Skipped exon end: 91671500
	Mutation start: 91671392
	Mutation end: 91671393
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.R1654fs
exon_skip_101656_UCEC_TCGA-B5-A0K9-01.png
exon_skip_25134_UCEC_TCGA-B5-A0K9-01.png
exon_skip_295913_UCEC_TCGA-B5-A0K9-01.png
exon_skip_301201_UCEC_TCGA-B5-A0K9-01.png
exon_skip_319638_UCEC_TCGA-B5-A0K9-01.png
exon_skip_321422_UCEC_TCGA-B5-A0K9-01.png
exon_skip_321423_UCEC_TCGA-B5-A0K9-01.png
exon_skip_321427_UCEC_TCGA-B5-A0K9-01.png
exon_skip_32745_UCEC_TCGA-B5-A0K9-01.png
exon_skip_382168_UCEC_TCGA-B5-A0K9-01.png
exon_skip_420494_UCEC_TCGA-B5-A0K9-01.png
exon_skip_421737_UCEC_TCGA-B5-A0K9-01.png
exon_skip_438393_UCEC_TCGA-B5-A0K9-01.png
exon_skip_468121_UCEC_TCGA-B5-A0K9-01.png
exon_skip_54935_UCEC_TCGA-B5-A0K9-01.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
SNUC2A_LARGE_INTESTINE	91603025	91603282	91603085	91603085	Frame_Shift_Del	A	-	p.K51fs
SNUC4_LARGE_INTESTINE	91603025	91603282	91603085	91603085	Frame_Shift_Del	A	-	p.K51fs
SNUC2B_LARGE_INTESTINE	91603025	91603282	91603085	91603085	Frame_Shift_Del	A	-	p.K51fs
TGBC11TKB_STOMACH	91603025	91603282	91603085	91603085	Frame_Shift_Del	A	-	p.K51fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	91643563	91643642	91643633	91643633	Frame_Shift_Del	T	-	p.Y1213fs
SBC1_LUNG	91694545	91694777	91694563	91694563	Frame_Shift_Del	A	-	p.E2011fs
CW2_LARGE_INTESTINE	91694545	91694777	91694626	91694626	Frame_Shift_Del	A	-	p.Q2032fs
CCK81_LARGE_INTESTINE	91708393	91709466	91708403	91708403	Frame_Shift_Del	A	-	p.E2331fs
HEC59_ENDOMETRIUM	91731908	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3747fs
HEC59_ENDOMETRIUM	91732001	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3747fs
SNU1040_LARGE_INTESTINE	91731908	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3747fs
SNU1040_LARGE_INTESTINE	91732001	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3747fs
SW48_LARGE_INTESTINE	91731908	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3747fs
SW48_LARGE_INTESTINE	91732001	91732140	91732039	91732039	Frame_Shift_Del	G	-	p.M3747fs
RCCFG2_KIDNEY	91624917	91625114	91625058	91625059	Frame_Shift_Ins	-	A	p.E304fs
DU145_PROSTATE	91671360	91671500	91671391	91671392	Frame_Shift_Ins	-	AG	p.SE1662fs
CW2_LARGE_INTESTINE	91694545	91694777	91694694	91694695	Frame_Shift_Ins	-	A	p.E2055fs
AN3CA_ENDOMETRIUM	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
LOVO_LARGE_INTESTINE	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
COLO201_LARGE_INTESTINE	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
EW8_BONE	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
HS683_CENTRAL_NERVOUS_SYSTEM	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
HS819T_FIBROBLAST	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
JHUEM3_ENDOMETRIUM	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
KLE_ENDOMETRIUM	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
KM12_LARGE_INTESTINE	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
LNZ308_CENTRAL_NERVOUS_SYSTEM	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
NCIH1339_LUNG	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
NCIH2110_LUNG	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
NCIH2452_PLEURA	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
NCIH661_LUNG	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
PK45H_PANCREAS	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
RCM1_LARGE_INTESTINE	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
SHP77_LUNG	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
SKMEL1_SKIN	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
SNU489_CENTRAL_NERVOUS_SYSTEM	91699344	91699520	91699371	91699372	Frame_Shift_Ins	-	A	p.E2132fs
CCK81_LARGE_INTESTINE	91708393	91709466	91708402	91708403	Frame_Shift_Ins	-	A	p.E2331fs
RKO_LARGE_INTESTINE	91603025	91603282	91603085	91603085	Missense_Mutation	A	G	p.K49E
HCC2998_LARGE_INTESTINE	91603025	91603282	91603185	91603185	Missense_Mutation	C	A	p.S82Y
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91603025	91603282	91603211	91603211	Missense_Mutation	C	G	p.P91A
OC316_OVARY	91603025	91603282	91603238	91603238	Missense_Mutation	C	T	p.H100Y
OC314_OVARY	91603025	91603282	91603238	91603238	Missense_Mutation	C	T	p.H100Y
NCIH1385_LUNG	91603025	91603282	91603268	91603268	Missense_Mutation	G	A	p.G110S
RCCJF_KIDNEY	91621472	91621525	91621482	91621482	Missense_Mutation	G	T	p.C133F
GT3TKB_STOMACH	91621472	91621525	91621507	91621507	Missense_Mutation	G	T	p.K141N
RERFLCAI_LUNG	91621472	91621525	91621507	91621507	Missense_Mutation	G	T	p.K141N
SNU81_LARGE_INTESTINE	91621472	91621525	91621517	91621517	Missense_Mutation	T	G	p.L145V
CAL78_BONE	91624917	91625114	91624936	91624936	Missense_Mutation	T	G	p.L263R
NCIH520_LUNG	91624917	91625114	91624984	91624984	Missense_Mutation	A	T	p.K279I
OCILY132_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91641743	91641956	91641773	91641773	Missense_Mutation	C	A	p.R1129S
P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91641743	91641956	91641773	91641773	Missense_Mutation	C	T	p.R1129C
HS940T_FIBROBLAST	91641743	91641956	91641893	91641893	Missense_Mutation	A	G	p.K1169E
GP5D_LARGE_INTESTINE	91643563	91643642	91643575	91643575	Missense_Mutation	A	G	p.K1194R
JHUEM7_ENDOMETRIUM	91660826	91660918	91660899	91660899	Missense_Mutation	T	C	p.L1452S
JHUEM7_ENDOMETRIUM	91667733	91668086	91667758	91667758	Missense_Mutation	T	C	p.F1467S
MEWO_SKIN	91667733	91668086	91667806	91667806	Missense_Mutation	C	T	p.T1483I
NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91667733	91668086	91667832	91667832	Missense_Mutation	G	A	p.V1492M
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91667733	91668086	91667887	91667887	Missense_Mutation	T	A	p.I1510N
HEC251_ENDOMETRIUM	91671360	91671500	91671409	91671409	Missense_Mutation	T	G	p.L1668R
HS729_SOFT_TISSUE	91690574	91690736	91690611	91690611	Missense_Mutation	G	A	p.R1892H
CAL148_BREAST	91690574	91690736	91690733	91690733	Missense_Mutation	G	A	p.E1933K
SNU1_STOMACH	91694545	91694777	91694601	91694601	Missense_Mutation	G	A	p.A2024T
SNU520_STOMACH	91694545	91694777	91694688	91694688	Missense_Mutation	G	A	p.E2053K
HCC2998_LARGE_INTESTINE	91694545	91694777	91694697	91694697	Missense_Mutation	A	C	p.K2056Q
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91699344	91699520	91699360	91699360	Missense_Mutation	A	G	p.N2128S
SNU899_UPPER_AERODIGESTIVE_TRACT	91699344	91699520	91699371	91699371	Missense_Mutation	G	A	p.E2132K
HCT15_LARGE_INTESTINE	91706169	91706321	91706264	91706264	Missense_Mutation	G	T	p.Q2248H
SNU324_PANCREAS	91706169	91706321	91706269	91706269	Missense_Mutation	A	C	p.K2250T
SF126_CENTRAL_NERVOUS_SYSTEM	91706169	91706321	91706298	91706298	Missense_Mutation	G	C	p.E2260Q
DMS114_LUNG	91706169	91706321	91706315	91706315	Missense_Mutation	A	C	p.L2265F
HGC27_STOMACH	91708393	91709466	91708585	91708585	Missense_Mutation	G	C	p.E2392Q
NUGC3_STOMACH	91708393	91709466	91708853	91708853	Missense_Mutation	T	G	p.L2481R
KG1C_CENTRAL_NERVOUS_SYSTEM	91708393	91709466	91709083	91709083	Missense_Mutation	A	G	p.I2558V
SKN_ENDOMETRIUM	91708393	91709466	91709107	91709107	Missense_Mutation	G	A	p.A2566T
HEC251_ENDOMETRIUM	91708393	91709466	91709110	91709110	Missense_Mutation	C	T	p.L2567F
LB1047RCC_KIDNEY	91708393	91709466	91709251	91709251	Missense_Mutation	T	C	p.S2614P
G401_SOFT_TISSUE	91708393	91709466	91709266	91709266	Missense_Mutation	A	G	p.R2619G
SIMA_AUTONOMIC_GANGLIA	91708393	91709466	91709285	91709285	Missense_Mutation	G	A	p.S2625N
NCC010_KIDNEY	91708393	91709466	91709313	91709313	Missense_Mutation	G	T	p.L2634F
HSC1_SKIN	91708393	91709466	91709392	91709392	Missense_Mutation	C	G	p.L2661V
OMC1_CERVIX	91715542	91715730	91715574	91715574	Missense_Mutation	C	G	p.F3023L
SNU175_LARGE_INTESTINE	91715542	91715730	91715624	91715624	Missense_Mutation	A	G	p.E3040G
JHUEM7_ENDOMETRIUM	91715542	91715730	91715653	91715653	Missense_Mutation	C	T	p.R3050W
IGR39_SKIN	91722411	91722630	91722422	91722422	Missense_Mutation	T	A	p.Y3128N
IGR37_SKIN	91722411	91722630	91722422	91722422	Missense_Mutation	T	A	p.Y3128N
KYSE510_OESOPHAGUS	91722411	91722630	91722461	91722461	Missense_Mutation	C	G	p.Q3141E
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91722411	91722630	91722481	91722481	Missense_Mutation	G	T	p.M3147I
OC316_OVARY	91722411	91722630	91722495	91722495	Missense_Mutation	C	T	p.T3152M
OC314_OVARY	91722411	91722630	91722495	91722495	Missense_Mutation	C	T	p.T3152M
NCIH1048_LUNG	91722411	91722630	91722590	91722590	Missense_Mutation	A	G	p.K3184E
SNU719_STOMACH	91729001	91729183	91729073	91729073	Missense_Mutation	A	C	p.T3600P
HT115_LARGE_INTESTINE	91729001	91729183	91729110	91729110	Missense_Mutation	A	T	p.D3612V
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91729001	91729183	91729119	91729119	Missense_Mutation	A	G	p.N3615S
SNU878_LIVER	91729001	91729183	91729151	91729151	Missense_Mutation	T	A	p.W3626R
GP2D_LARGE_INTESTINE	91729001	91729183	91729154	91729154	Missense_Mutation	T	C	p.Y3627H
GP5D_LARGE_INTESTINE	91729001	91729183	91729154	91729154	Missense_Mutation	T	C	p.Y3627H
22RV1_PROSTATE	91729001	91729183	91729158	91729158	Missense_Mutation	G	A	p.R3628Q
HPAC_PANCREAS	91729001	91729183	91729167	91729167	Missense_Mutation	G	A	p.G3631E
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91731908	91732140	91731963	91731963	Missense_Mutation	A	T	p.Q3722L
LS411N_LARGE_INTESTINE	91731908	91732140	91732028	91732028	Missense_Mutation	C	T	p.L3744F
LS411N_LARGE_INTESTINE	91732001	91732140	91732028	91732028	Missense_Mutation	C	T	p.L3744F
HCC2998_LARGE_INTESTINE	91731908	91732140	91732113	91732113	Missense_Mutation	C	T	p.A3772V
HCC2998_LARGE_INTESTINE	91732001	91732140	91732113	91732113	Missense_Mutation	C	T	p.A3772V
LS123_LARGE_INTESTINE	91736607	91736736	91736671	91736671	Missense_Mutation	A	T	p.R3831S
LS123_LARGE_INTESTINE	91736607	91736736	91736673	91736673	Missense_Mutation	A	T	p.H3832L
EFE184_ENDOMETRIUM	91736607	91736736	91736679	91736679	Missense_Mutation	C	T	p.T3834M
SW480_LARGE_INTESTINE	91737808	91737947	91737843	91737843	Missense_Mutation	C	T	p.S3865F
HS939T_SKIN	91603025	91603282	91603037	91603037	Nonsense_Mutation	C	T	p.R33*
HCC2998_LARGE_INTESTINE	91603025	91603282	91603037	91603037	Nonsense_Mutation	C	T	p.R33*
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91708393	91709466	91708885	91708885	Nonsense_Mutation	C	T	p.Q2492*
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91671360	91671500	91671500	91671500	Splice_Site	G	T	p.Q1698H
NUGC3_STOMACH	91700219	91700323	91700323	91700323	Splice_Site	G	T	p.E2216D
HEC1A_ENDOMETRIUM	91731908	91732140	91731909	91731909	Splice_Site	G	A	p.R3704K

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKAP9

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_468112	7	91630161:91632549:91641742:91641956:91643562:91643642	91641742:91641956	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3,ENST00000493453.1	ESCA	rs13245393	chr7:91641928	A/G	1.81e-11
exon_skip_468112	7	91630161:91632549:91641742:91641956:91643562:91643642	91641742:91641956	ENST00000358100.2,ENST00000359028.2,ENST00000356239.3,ENST00000493453.1	STAD	rs13245393	chr7:91641928	A/G	8.92e-17
exon_skip_468099	7	91570408:91570461:91599786:91599822:91603024:91603282	91599786:91599822	ENST00000358100.2,ENST00000359028.2,ENST00000493453.1	ESCA	rs2188155	chr7:91599825	A/C	1.73e-11
exon_skip_468099	7	91570408:91570461:91599786:91599822:91603024:91603282	91599786:91599822	ENST00000358100.2,ENST00000359028.2,ENST00000493453.1	STAD	rs2188155	chr7:91599825	A/C	3.42e-17

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKAP9

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKAP9

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RelatedDrugs for AKAP9

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 AKAP9

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
AKAP9	C0037274	Dermatologic disorders	1	CTD_human
AKAP9	C0311375	Arsenic Poisoning	1	CTD_human
AKAP9	C2678483	Long Qt Syndrome 11	1	CTD_human;UNIPROT

	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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Gene summary for AKAP9

Exon skipping events across known transcript of Ensembl for AKAP9 from UCSC genome browser

Gene isoform structures and expression levels for AKAP9

Exon skipping events with PSIs in TCGA for AKAP9

Exon skipping events with PSIs in GTEx for AKAP9

Open reading frame (ORF) annotation in the exon skipping event for AKAP9

Infer the effects of exon skipping event on protein functional features for AKAP9

SNVs in the skipped exons for AKAP9

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKAP9

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKAP9

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKAP9

RelatedDrugs for AKAP9

RelatedDiseases for AKAP9