ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MYO9A

Gene summary

Gene information	Gene symbol	MYO9A
	Gene ID	4649
	Gene name	myosin IXA
	Synonyms	-
	Cytomap	15q23
	Type of gene	protein-coding
	Description	unconventional myosin-IXamyosin-IXaunconventional myosin-9a
	Modification date	20180519
	UniProtAcc	B2RTY4
	Context	PubMed: MYO9A [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 MYO9A 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 MYO9A

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 MYO9A

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_128870	15	72122546:72122652:72139755:72139809:72141185:72141309	72139755:72139809	ENSG00000066933.11	ENST00000568042.1
exon_skip_128871	15	72141185:72141309:72142376:72142508:72143593:72143699	72142376:72142508	ENSG00000066933.11	ENST00000561618.1,ENST00000564699.1,ENST00000424560.1,ENST00000568042.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5
exon_skip_128872	15	72152075:72152137:72154840:72154952:72168131:72168179	72154840:72154952	ENSG00000066933.11	ENST00000561618.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5
exon_skip_128873	15	72154840:72154952:72168131:72168179:72170380:72170572	72168131:72168179	ENSG00000066933.11	ENST00000561618.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5
exon_skip_128878	15	72180344:72180457:72185305:72185518:72186019:72186119	72185305:72185518	ENSG00000066933.11	ENST00000561618.1,ENST00000424560.1
exon_skip_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENSG00000066933.11	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5
exon_skip_128882	15	72193531:72193681:72195281:72195404:72196269:72196380	72195281:72195404	ENSG00000066933.11	ENST00000563542.1,ENST00000424560.1,ENST00000566885.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5
exon_skip_128883	15	72197266:72197347:72208710:72208833:72226010:72226050	72208710:72208833	ENSG00000066933.11	ENST00000563542.1,ENST00000424560.1,ENST00000566885.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5
exon_skip_128885	15	72208710:72208833:72226010:72226050:72227681:72227825	72226010:72226050	ENSG00000066933.11	ENST00000563542.1,ENST00000424560.1,ENST00000566885.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5
exon_skip_128886	15	72231192:72231268:72242574:72242732:72244117:72244237	72242574:72242732	ENSG00000066933.11	ENST00000563648.1
exon_skip_128888	15	72231192:72231268:72244042:72244237:72252241:72252296	72244042:72244237	ENSG00000066933.11	ENST00000566885.1
exon_skip_128889	15	72231192:72231268:72244117:72244237:72252241:72252296	72244117:72244237	ENSG00000066933.11	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5
exon_skip_128891	15	72252241:72252437:72260324:72260466:72270511:72270633	72260324:72260466	ENSG00000066933.11	ENST00000563542.1,ENST00000424560.1,ENST00000566885.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5,ENST00000567560.1
exon_skip_128892	15	72270511:72270633:72283443:72283578:72286809:72286926	72283443:72283578	ENSG00000066933.11	ENST00000563542.1,ENST00000424560.1,ENST00000566885.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5,ENST00000567560.1
exon_skip_128893	15	72283443:72283578:72286809:72286926:72292191:72292281	72286809:72286926	ENSG00000066933.11	ENST00000563542.1,ENST00000424560.1,ENST00000566885.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5,ENST00000567560.1
exon_skip_128894	15	72302718:72302788:72311379:72311436:72313258:72313358	72311379:72311436	ENSG00000066933.11	ENST00000568438.1,ENST00000424560.1,ENST00000564571.1,ENST00000356056.5,ENST00000567560.1
exon_skip_128896	15	72313258:72313358:72320071:72320134:72324834:72324929	72320071:72320134	ENSG00000066933.11	ENST00000563542.1,ENST00000424560.1,ENST00000566885.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5,ENST00000567560.1
exon_skip_128897	15	72320071:72320134:72324834:72324929:72338064:72338323	72324834:72324929	ENSG00000066933.11	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5,ENST00000567560.1
exon_skip_128898	15	72324834:72324929:72338064:72338975:72410020:72410109	72338064:72338975	ENSG00000066933.11	ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000567560.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MYO9A

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_128870	15	72122546:72122652:72139755:72139809:72141185:72141309	72139755:72139809	ENSG00000066933.11	ENST00000568042.1
exon_skip_128871	15	72141185:72141309:72142376:72142508:72143593:72143699	72142376:72142508	ENSG00000066933.11	ENST00000356056.5,ENST00000561618.1,ENST00000424560.1,ENST00000444904.1,ENST00000568042.1,ENST00000564571.1,ENST00000564699.1
exon_skip_128872	15	72152075:72152137:72154840:72154952:72168131:72168179	72154840:72154952	ENSG00000066933.11	ENST00000356056.5,ENST00000561618.1,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1
exon_skip_128873	15	72154840:72154952:72168131:72168179:72170380:72170572	72168131:72168179	ENSG00000066933.11	ENST00000356056.5,ENST00000561618.1,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1
exon_skip_128878	15	72180344:72180457:72185305:72185518:72186019:72186119	72185305:72185518	ENSG00000066933.11	ENST00000561618.1,ENST00000424560.1
exon_skip_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENSG00000066933.11	ENST00000356056.5,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1,ENST00000563542.1
exon_skip_128882	15	72193531:72193681:72195281:72195404:72196269:72196380	72195281:72195404	ENSG00000066933.11	ENST00000356056.5,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1,ENST00000563542.1,ENST00000566885.1
exon_skip_128883	15	72197266:72197347:72208710:72208833:72226010:72226050	72208710:72208833	ENSG00000066933.11	ENST00000356056.5,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1,ENST00000563542.1,ENST00000566885.1
exon_skip_128885	15	72208710:72208833:72226010:72226050:72227681:72227825	72226010:72226050	ENSG00000066933.11	ENST00000356056.5,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1,ENST00000563542.1,ENST00000566885.1
exon_skip_128886	15	72231192:72231268:72242574:72242732:72244117:72244237	72242574:72242732	ENSG00000066933.11	ENST00000563648.1
exon_skip_128888	15	72231192:72231268:72244042:72244237:72252241:72252296	72244042:72244237	ENSG00000066933.11	ENST00000566885.1
exon_skip_128889	15	72231192:72231268:72244117:72244237:72252241:72252296	72244117:72244237	ENSG00000066933.11	ENST00000356056.5,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1,ENST00000563542.1
exon_skip_128891	15	72252241:72252437:72260324:72260466:72270511:72270633	72260324:72260466	ENSG00000066933.11	ENST00000356056.5,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1,ENST00000563542.1,ENST00000566885.1,ENST00000567560.1
exon_skip_128892	15	72270511:72270633:72283443:72283578:72286809:72286926	72283443:72283578	ENSG00000066933.11	ENST00000356056.5,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1,ENST00000563542.1,ENST00000566885.1,ENST00000567560.1
exon_skip_128893	15	72283443:72283578:72286809:72286926:72292191:72292281	72286809:72286926	ENSG00000066933.11	ENST00000356056.5,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1,ENST00000563542.1,ENST00000566885.1,ENST00000567560.1
exon_skip_128894	15	72302718:72302788:72311379:72311436:72313258:72313358	72311379:72311436	ENSG00000066933.11	ENST00000356056.5,ENST00000424560.1,ENST00000564571.1,ENST00000567560.1,ENST00000568438.1
exon_skip_128896	15	72313258:72313358:72320071:72320134:72324834:72324929	72320071:72320134	ENSG00000066933.11	ENST00000356056.5,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1,ENST00000563542.1,ENST00000566885.1,ENST00000567560.1
exon_skip_128897	15	72320071:72320134:72324834:72324929:72338064:72338323	72324834:72324929	ENSG00000066933.11	ENST00000356056.5,ENST00000424560.1,ENST00000444904.1,ENST00000564571.1,ENST00000563542.1,ENST00000567560.1
exon_skip_128898	15	72324834:72324929:72338064:72338975:72410020:72410109	72338064:72338975	ENSG00000066933.11	ENST00000424560.1,ENST00000444904.1,ENST00000564571.1,ENST00000567560.1

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 MYO9A

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
ENST00000444904	72338064	72338975	3UTR-3CDS
ENST00000356056	72154840	72154952	Frame-shift
ENST00000444904	72154840	72154952	Frame-shift
ENST00000356056	72226010	72226050	Frame-shift
ENST00000444904	72226010	72226050	Frame-shift
ENST00000356056	72260324	72260466	Frame-shift
ENST00000444904	72260324	72260466	Frame-shift
ENST00000356056	72324834	72324929	Frame-shift
ENST00000444904	72324834	72324929	Frame-shift
ENST00000356056	72142376	72142508	In-frame
ENST00000444904	72142376	72142508	In-frame
ENST00000356056	72168131	72168179	In-frame
ENST00000444904	72168131	72168179	In-frame
ENST00000356056	72189801	72191373	In-frame
ENST00000444904	72189801	72191373	In-frame
ENST00000356056	72195281	72195404	In-frame
ENST00000444904	72195281	72195404	In-frame
ENST00000356056	72208710	72208833	In-frame
ENST00000444904	72208710	72208833	In-frame
ENST00000356056	72244117	72244237	In-frame
ENST00000444904	72244117	72244237	In-frame
ENST00000356056	72283443	72283578	In-frame
ENST00000444904	72283443	72283578	In-frame
ENST00000356056	72286809	72286926	In-frame
ENST00000444904	72286809	72286926	In-frame
ENST00000356056	72311379	72311436	In-frame
ENST00000356056	72320071	72320134	In-frame
ENST00000444904	72320071	72320134	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
ENST00000444904	72338064	72338975	3UTR-3CDS
ENST00000356056	72154840	72154952	Frame-shift
ENST00000444904	72154840	72154952	Frame-shift
ENST00000356056	72226010	72226050	Frame-shift
ENST00000444904	72226010	72226050	Frame-shift
ENST00000356056	72260324	72260466	Frame-shift
ENST00000444904	72260324	72260466	Frame-shift
ENST00000356056	72324834	72324929	Frame-shift
ENST00000444904	72324834	72324929	Frame-shift
ENST00000356056	72142376	72142508	In-frame
ENST00000444904	72142376	72142508	In-frame
ENST00000356056	72168131	72168179	In-frame
ENST00000444904	72168131	72168179	In-frame
ENST00000356056	72189801	72191373	In-frame
ENST00000444904	72189801	72191373	In-frame
ENST00000356056	72195281	72195404	In-frame
ENST00000444904	72195281	72195404	In-frame
ENST00000356056	72208710	72208833	In-frame
ENST00000444904	72208710	72208833	In-frame
ENST00000356056	72244117	72244237	In-frame
ENST00000444904	72244117	72244237	In-frame
ENST00000356056	72283443	72283578	In-frame
ENST00000444904	72283443	72283578	In-frame
ENST00000356056	72286809	72286926	In-frame
ENST00000444904	72286809	72286926	In-frame
ENST00000356056	72311379	72311436	In-frame
ENST00000356056	72320071	72320134	In-frame
ENST00000444904	72320071	72320134	In-frame

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Infer the effects of exon skipping event on protein functional features for MYO9A

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
ENST00000356056	12426	2548	72320071	72320134	1409	1471	312	332
ENST00000444904	8632	2548	72320071	72320134	1409	1471	312	332
ENST00000356056	12426	2548	72311379	72311436	1572	1628	366	385
ENST00000444904	8632	2548	72286809	72286926	1887	2003	471	510
ENST00000356056	12426	2548	72286809	72286926	1944	2060	490	529
ENST00000444904	8632	2548	72283443	72283578	2004	2138	510	555
ENST00000356056	12426	2548	72283443	72283578	2061	2195	529	574
ENST00000444904	8632	2548	72244117	72244237	2599	2718	708	748
ENST00000356056	12426	2548	72244117	72244237	2656	2775	727	767
ENST00000444904	8632	2548	72208710	72208833	2979	3101	835	876
ENST00000356056	12426	2548	72208710	72208833	3036	3158	854	895
ENST00000444904	8632	2548	72195281	72195404	3294	3416	940	981
ENST00000356056	12426	2548	72195281	72195404	3351	3473	959	1000
ENST00000444904	8632	2548	72189801	72191373	3887	5458	1138	1661
ENST00000356056	12426	2548	72189801	72191373	3944	5515	1157	1680
ENST00000444904	8632	2548	72142376	72142508	6998	7129	2175	2218
ENST00000356056	12426	2548	72142376	72142508	7055	7186	2194	2237

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
ENST00000356056	12426	2548	72320071	72320134	1409	1471	312	332
ENST00000444904	8632	2548	72320071	72320134	1409	1471	312	332
ENST00000356056	12426	2548	72311379	72311436	1572	1628	366	385
ENST00000444904	8632	2548	72286809	72286926	1887	2003	471	510
ENST00000356056	12426	2548	72286809	72286926	1944	2060	490	529
ENST00000444904	8632	2548	72283443	72283578	2004	2138	510	555
ENST00000356056	12426	2548	72283443	72283578	2061	2195	529	574
ENST00000444904	8632	2548	72244117	72244237	2599	2718	708	748
ENST00000356056	12426	2548	72244117	72244237	2656	2775	727	767
ENST00000444904	8632	2548	72208710	72208833	2979	3101	835	876
ENST00000356056	12426	2548	72208710	72208833	3036	3158	854	895
ENST00000444904	8632	2548	72195281	72195404	3294	3416	940	981
ENST00000356056	12426	2548	72195281	72195404	3351	3473	959	1000
ENST00000444904	8632	2548	72189801	72191373	3887	5458	1138	1661
ENST00000356056	12426	2548	72189801	72191373	3944	5515	1157	1680
ENST00000444904	8632	2548	72142376	72142508	6998	7129	2175	2218
ENST00000356056	12426	2548	72142376	72142508	7055	7186	2194	2237

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 MYO9A

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-BC-A3KG-01	exon_skip_128872	72154841	72154952	72154926	72154926	Frame_Shift_Del	A	-	p.F2002fs
STAD	TCGA-HU-A4GP-01	exon_skip_128881	72189802	72191373	72190282	72190283	Frame_Shift_Del	TC	-	p.1521_1521del
STAD	TCGA-HU-A4GP-01	exon_skip_128881	72189802	72191373	72190282	72190283	Frame_Shift_Del	TC	-	p.D1521fs
LIHC	TCGA-DD-A39Y-01	exon_skip_128881	72189802	72191373	72190314	72190314	Frame_Shift_Del	T	-	p.K1510fs
LIHC	TCGA-DD-A3A0-01	exon_skip_128881	72189802	72191373	72190314	72190314	Frame_Shift_Del	T	-	p.K1510fs
LIHC	TCGA-DD-A1EG-01	exon_skip_128881	72189802	72191373	72190431	72190431	Frame_Shift_Del	T	-	p.K1471fs
LIHC	TCGA-DD-A1EG-01	exon_skip_128881	72189802	72191373	72190457	72190457	Frame_Shift_Del	T	-	p.T1463fs
UCEC	TCGA-AP-A0LD-01	exon_skip_128881	72189802	72191373	72190580	72190580	Frame_Shift_Del	A	-	p.Y1422fs
UCEC	TCGA-AP-A0LG-01	exon_skip_128881	72189802	72191373	72190580	72190580	Frame_Shift_Del	A	-	p.Y1422fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_128881	72189802	72191373	72190822	72190822	Frame_Shift_Del	T	-	p.K1341fs
LIHC	TCGA-DD-A39Y-01	exon_skip_128892	72283444	72283578	72283549	72283549	Frame_Shift_Del	A	-	p.F539fs
LIHC	TCGA-DD-A39Y-01	exon_skip_128896	72320072	72320134	72320119	72320119	Frame_Shift_Del	T	-	p.K317fs
LIHC	TCGA-DD-A3A0-01	exon_skip_128898	72338065	72338975	72338453	72338453	Frame_Shift_Del	A	-	p.L151fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_128898	72338065	72338975	72338789	72338789	Frame_Shift_Del	T	-	p.N39fs
BLCA	TCGA-XF-A9ST-01	exon_skip_128898	72338065	72338975	72338831	72338843	Frame_Shift_Del	ATAGCCCCAGGAT	-	p.YPGAI21fs
SKCM	TCGA-YG-AA3O-06	exon_skip_128871	72142377	72142508	72142483	72142483	Nonsense_Mutation	G	A	p.R2203*
HNSC	TCGA-F7-A624-01	exon_skip_128881	72189802	72191373	72189934	72189934	Nonsense_Mutation	G	C	p.S1637*
UCEC	TCGA-BS-A0UV-01	exon_skip_128881	72189802	72191373	72190136	72190136	Nonsense_Mutation	C	A	p.E1570*
LGG	TCGA-HT-8109-01	exon_skip_128881	72189802	72191373	72190411	72190411	Nonsense_Mutation	A	T	p.L1478*
LGG	TCGA-HT-8109-01	exon_skip_128881	72189802	72191373	72190411	72190411	Nonsense_Mutation	A	T	p.L1478X
LUAD	TCGA-95-7043-01	exon_skip_128882	72195282	72195404	72195371	72195371	Nonsense_Mutation	G	A	p.R971*
LUAD	TCGA-55-8096-01	exon_skip_128898	72338065	72338975	72338223	72338223	Nonsense_Mutation	G	A	p.Q228*
LUSC	TCGA-22-1011-01	exon_skip_128898	72338065	72338975	72338533	72338533	Nonsense_Mutation	C	T	p.W124*
LGG	TCGA-DU-6392-01	exon_skip_128898	72338065	72338975	72338703	72338703	Nonsense_Mutation	C	A	p.E68*
UCEC	TCGA-BS-A0UJ-01	exon_skip_128883	72208711	72208833	72208709	72208709	Splice_Site	A	C	e18+2

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

Depth of coverage in three exons

Mutation description

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

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72168132	72168179	72168156	72168159	Frame_Shift_Del	TTTC	-	p.KK1984fs
HEC265_ENDOMETRIUM	72189802	72191373	72190580	72190580	Frame_Shift_Del	A	-	p.Y1422fs
HEC6_ENDOMETRIUM	72189802	72191373	72190580	72190580	Frame_Shift_Del	A	-	p.Y1422fs
HCT116_LARGE_INTESTINE	72189802	72191373	72190580	72190580	Frame_Shift_Del	A	-	p.Y1422fs
COGN305_AUTONOMIC_GANGLIA	72189802	72191373	72190182	72190183	Frame_Shift_Ins	-	A	p.V1554fs
CW2_LARGE_INTESTINE	72195282	72195404	72195322	72195323	Frame_Shift_Ins	-	T	p.I987fs
JL1_PLEURA	72208711	72208833	72208737	72208738	Frame_Shift_Ins	-	T	p.P887fs
LCLC97TM1_LUNG	72311380	72311436	72311430	72311432	In_Frame_Del	TTG	-	p.T368del
SKMEL2_SKIN	72142377	72142508	72142398	72142398	Missense_Mutation	T	C	p.Q2231R
CHLA218_BONE	72142377	72142508	72142441	72142441	Missense_Mutation	T	C	p.I2217V
RL952_ENDOMETRIUM	72142377	72142508	72142467	72142467	Missense_Mutation	G	A	p.A2208V
GOTO_AUTONOMIC_GANGLIA	72142377	72142508	72142469	72142469	Missense_Mutation	A	T	p.N2207K
YH13_CENTRAL_NERVOUS_SYSTEM	72142377	72142508	72142469	72142469	Missense_Mutation	A	T	p.N2207K
HEC6_ENDOMETRIUM	72168132	72168179	72168139	72168139	Missense_Mutation	G	A	p.T1991I
LS411N_LARGE_INTESTINE	72189802	72191373	72189822	72189822	Missense_Mutation	C	A	p.K1674N
SW1573_LUNG	72189802	72191373	72189901	72189901	Missense_Mutation	C	T	p.R1648K
DSH1_URINARY_TRACT	72189802	72191373	72190373	72190373	Missense_Mutation	C	G	p.E1491Q
IGR39_SKIN	72189802	72191373	72190390	72190390	Missense_Mutation	G	A	p.P1485L
IGR37_SKIN	72189802	72191373	72190390	72190390	Missense_Mutation	G	A	p.P1485L
CP67MEL_SKIN	72189802	72191373	72190472	72190472	Missense_Mutation	C	T	p.D1458N
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72189802	72191373	72190541	72190541	Missense_Mutation	G	T	p.L1435I
NCIH1184_LUNG	72189802	72191373	72190699	72190699	Missense_Mutation	C	A	p.S1382I
PEO1_OVARY	72189802	72191373	72190877	72190877	Missense_Mutation	C	G	p.D1323H
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72189802	72191373	72190888	72190888	Missense_Mutation	C	T	p.R1319Q
ANGMCSS_CENTRAL_NERVOUS_SYSTEM	72189802	72191373	72190945	72190945	Missense_Mutation	G	A	p.P1300L
JHUEM7_ENDOMETRIUM	72189802	72191373	72191049	72191049	Missense_Mutation	T	G	p.K1265N
HEC251_ENDOMETRIUM	72189802	72191373	72191074	72191074	Missense_Mutation	C	A	p.R1257I
NB13_AUTONOMIC_GANGLIA	72189802	72191373	72191082	72191082	Missense_Mutation	C	A	p.E1254D
HSC4_UPPER_AERODIGESTIVE_TRACT	72189802	72191373	72191093	72191093	Missense_Mutation	G	T	p.L1251I
NUGC2_STOMACH	72189802	72191373	72191093	72191093	Missense_Mutation	G	T	p.L1251I
LOVO_LARGE_INTESTINE	72189802	72191373	72191186	72191186	Missense_Mutation	G	T	p.R1220S
JIMT1_BREAST	72189802	72191373	72191232	72191232	Missense_Mutation	T	A	p.K1204N
RT112_URINARY_TRACT	72189802	72191373	72191253	72191253	Missense_Mutation	A	C	p.C1197W
JHUEM7_ENDOMETRIUM	72189802	72191373	72191343	72191343	Missense_Mutation	T	G	p.R1167S
JHU029_UPPER_AERODIGESTIVE_TRACT	72195282	72195404	72195299	72195299	Missense_Mutation	G	C	p.Q995E
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72195282	72195404	72195337	72195337	Missense_Mutation	T	A	p.D982V
647V_URINARY_TRACT	72195282	72195404	72195370	72195370	Missense_Mutation	C	T	p.R971Q
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72208711	72208833	72208724	72208724	Missense_Mutation	C	G	p.S891T
HS751T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72208711	72208833	72208731	72208731	Missense_Mutation	T	C	p.S889G
SNU81_LARGE_INTESTINE	72208711	72208833	72208778	72208778	Missense_Mutation	C	T	p.R873H
SNU16_STOMACH	72208711	72208833	72208831	72208831	Missense_Mutation	G	C	p.H855Q
JHUEM7_ENDOMETRIUM	72244043	72244237	72244131	72244131	Missense_Mutation	C	A	p.K763N
JHUEM7_ENDOMETRIUM	72244118	72244237	72244131	72244131	Missense_Mutation	C	A	p.K763N
SCMCRM2_SOFT_TISSUE	72244043	72244237	72244156	72244156	Missense_Mutation	C	A	p.S755I
SCMCRM2_SOFT_TISSUE	72244118	72244237	72244156	72244156	Missense_Mutation	C	A	p.S755I
GP2D_LARGE_INTESTINE	72244043	72244237	72244193	72244193	Missense_Mutation	T	C	p.S743G
GP2D_LARGE_INTESTINE	72244118	72244237	72244193	72244193	Missense_Mutation	T	C	p.S743G
SH10TC_STOMACH	72244043	72244237	72244216	72244216	Missense_Mutation	C	A	p.C735F
SH10TC_STOMACH	72244118	72244237	72244216	72244216	Missense_Mutation	C	A	p.C735F
GEO_LARGE_INTESTINE	72244043	72244237	72244222	72244222	Missense_Mutation	G	A	p.A733V
GEO_LARGE_INTESTINE	72244118	72244237	72244222	72244222	Missense_Mutation	G	A	p.A733V
HEC1_ENDOMETRIUM	72260325	72260466	72260383	72260383	Missense_Mutation	A	G	p.V643A
LS411N_LARGE_INTESTINE	72260325	72260466	72260384	72260384	Missense_Mutation	C	T	p.V643M
NCIH1694_LUNG	72260325	72260466	72260452	72260452	Missense_Mutation	G	T	p.T620K
NCIH716_LARGE_INTESTINE	72260325	72260466	72260452	72260452	Missense_Mutation	G	T	p.T620K
GT3TKB_STOMACH	72283444	72283578	72283479	72283479	Missense_Mutation	G	A	p.H563Y
KYSE510_OESOPHAGUS	72283444	72283578	72283479	72283479	Missense_Mutation	G	A	p.H563Y
RERFLCAI_LUNG	72283444	72283578	72283479	72283479	Missense_Mutation	G	A	p.H563Y
CW2_LARGE_INTESTINE	72286810	72286926	72286821	72286821	Missense_Mutation	G	A	p.H526Y
LNCAPCLONEFGC_PROSTATE	72286810	72286926	72286903	72286903	Missense_Mutation	C	T	p.M498I
HEC108_ENDOMETRIUM	72311380	72311436	72311397	72311397	Missense_Mutation	A	G	p.C380R
KM12_LARGE_INTESTINE	72324835	72324929	72324839	72324839	Missense_Mutation	G	A	p.L311F
NCIH748_LUNG	72324835	72324929	72324856	72324856	Missense_Mutation	T	C	p.Q305R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72338065	72338975	72338351	72338351	Missense_Mutation	A	G	p.V185A
MDAMB175VII_BREAST	72338065	72338975	72338487	72338487	Missense_Mutation	G	A	p.L140F
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72338065	72338975	72338510	72338510	Missense_Mutation	C	T	p.R132H
CW2_LARGE_INTESTINE	72338065	72338975	72338586	72338586	Missense_Mutation	G	T	p.L107M
RERFLCKJ_LUNG	72338065	72338975	72338589	72338589	Missense_Mutation	G	A	p.L106F
HEC151_ENDOMETRIUM	72338065	72338975	72338594	72338594	Missense_Mutation	C	T	p.R104H
JAR_PLACENTA	72338065	72338975	72338616	72338616	Missense_Mutation	G	A	p.R97C
NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72338065	72338975	72338675	72338675	Missense_Mutation	T	C	p.N77S
GB1_CENTRAL_NERVOUS_SYSTEM	72338065	72338975	72338760	72338760	Missense_Mutation	G	T	p.L49I
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72338065	72338975	72338876	72338876	Missense_Mutation	C	T	p.R10H
L33_PANCREAS	72338065	72338975	72338885	72338885	Missense_Mutation	C	A	p.G7V
NCIH1770_LUNG	72338065	72338975	72338889	72338889	Missense_Mutation	C	T	p.G6R
NCIH2106_LUNG	72338065	72338975	72338889	72338889	Missense_Mutation	C	T	p.G6R
SW1573_LUNG	72189802	72191373	72189971	72189971	Nonsense_Mutation	T	A	p.R1625*
UMUC5_URINARY_TRACT	72189802	72191373	72190147	72190147	Nonsense_Mutation	G	C	p.S1566*
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72189802	72191373	72191195	72191195	Nonsense_Mutation	G	A	p.R1217*
SNU175_LARGE_INTESTINE	72320072	72320134	72320073	72320073	Splice_Site	G	A	p.R333W

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYO9A

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_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5	BRCA	rs2415128	chr15:72191073	T/C	3.92e-04
exon_skip_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5	BRCA	rs2415128	chr15:72191073	T/C	3.93e-04
exon_skip_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5	KIRC	rs2415128	chr15:72191073	T/C	3.32e-04
exon_skip_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5	KIRC	rs2415128	chr15:72191073	T/C	3.32e-04
exon_skip_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5	PRAD	rs2415128	chr15:72191073	T/C	1.91e-03
exon_skip_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5	PRAD	rs2415128	chr15:72191073	T/C	1.92e-03
exon_skip_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5	THCA	rs2415128	chr15:72191073	T/C	2.06e-07
exon_skip_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5	THCA	rs2415128	chr15:72191073	T/C	2.07e-07
exon_skip_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5	THCA	rs2415129	chr15:72191266	C/T	2.64e-04
exon_skip_128881	15	72186019:72186119:72189801:72191373:72192027:72192347	72189801:72191373	ENST00000563542.1,ENST00000424560.1,ENST00000564571.1,ENST00000444904.1,ENST00000356056.5	THCA	rs2415129	chr15:72191266	C/T	2.65e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO9A

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO9A

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RelatedDrugs for MYO9A

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 MYO9A

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	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 MYO9A

Exon skipping events across known transcript of Ensembl for MYO9A from UCSC genome browser

Gene isoform structures and expression levels for MYO9A

Exon skipping events with PSIs in TCGA for MYO9A

Exon skipping events with PSIs in GTEx for MYO9A

Open reading frame (ORF) annotation in the exon skipping event for MYO9A

Infer the effects of exon skipping event on protein functional features for MYO9A

SNVs in the skipped exons for MYO9A

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYO9A

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO9A

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO9A

RelatedDrugs for MYO9A

RelatedDiseases for MYO9A