ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MYO10

Gene summary

Gene information	Gene symbol	MYO10
	Gene ID	4651
	Gene name	myosin X
	Synonyms	-
	Cytomap	5p15.1
	Type of gene	protein-coding
	Description	unconventional myosin-Xunconventional myosin-10unconventionnal myosin-X
	Modification date	20180519
	UniProtAcc	Q9HD67
	Context	PubMed: MYO10 [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 MYO10 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 MYO10

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 MYO10

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_441213	5	16674961:16675259:16676139:16676263:16680055:16680213	16676139:16676263	ENSG00000145555.10	ENST00000515803.1,ENST00000427430.2,ENST00000505695.1,ENST00000274203.9,ENST00000513610.1
exon_skip_441214	5	16676139:16676263:16680055:16680213:16681417:16681612	16680055:16680213	ENSG00000145555.10	ENST00000515803.1,ENST00000427430.2,ENST00000505695.1,ENST00000274203.9,ENST00000513610.1
exon_skip_441216	5	16683988:16684044:16685846:16685940:16689932:16690028	16685846:16685940	ENSG00000145555.10	ENST00000515803.1,ENST00000427430.2,ENST00000505695.1,ENST00000274203.9,ENST00000513610.1
exon_skip_441219	5	16694479:16694723:16699558:16699682:16701071:16701947	16699558:16699682	ENSG00000145555.10	ENST00000515803.1,ENST00000427430.2,ENST00000505695.1,ENST00000274203.9,ENST00000513610.1
exon_skip_441220	5	16711268:16711354:16738244:16738507:16741912:16741989	16738244:16738507	ENSG00000145555.10	ENST00000512061.1
exon_skip_441223	5	16711268:16711354:16754936:16755017:16758226:16758335	16754936:16755017	ENSG00000145555.10	ENST00000510401.2,ENST00000513882.1,ENST00000513610.1
exon_skip_441225	5	16758226:16758335:16761572:16761655:16762153:16762222	16761572:16761655	ENSG00000145555.10	ENST00000513882.1,ENST00000513610.1
exon_skip_441226	5	16761572:16761655:16762153:16762222:16762653:16762746	16762153:16762222	ENSG00000145555.10	ENST00000513882.1,ENST00000513610.1
exon_skip_441230	5	16769182:16769312:16779653:16779757:16780632:16780717	16779653:16779757	ENSG00000145555.10	ENST00000513882.1,ENST00000513610.1
exon_skip_441231	5	16781813:16781938:16783443:16783578:16794754:16794942	16783443:16783578	ENSG00000145555.10	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENSG00000145555.10	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1
exon_skip_441233	5	16794754:16794942:16818117:16818276:16877717:16877816	16818117:16818276	ENSG00000145555.10	ENST00000513882.1,ENST00000513610.1
exon_skip_441234	5	16818117:16818276:16877717:16877816:16935896:16936047	16877717:16877816	ENSG00000145555.10	ENST00000507288.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MYO10

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_441213	5	16674961:16675259:16676139:16676263:16680055:16680213	16676139:16676263	ENSG00000145555.10	ENST00000513610.1,ENST00000515803.1,ENST00000274203.9,ENST00000505695.1,ENST00000427430.2
exon_skip_441214	5	16676139:16676263:16680055:16680213:16681417:16681612	16680055:16680213	ENSG00000145555.10	ENST00000513610.1,ENST00000515803.1,ENST00000274203.9,ENST00000505695.1,ENST00000427430.2
exon_skip_441216	5	16683988:16684044:16685846:16685940:16689932:16690028	16685846:16685940	ENSG00000145555.10	ENST00000513610.1,ENST00000515803.1,ENST00000274203.9,ENST00000505695.1,ENST00000427430.2
exon_skip_441219	5	16694479:16694723:16699558:16699682:16701071:16701947	16699558:16699682	ENSG00000145555.10	ENST00000513610.1,ENST00000515803.1,ENST00000274203.9,ENST00000505695.1,ENST00000427430.2
exon_skip_441220	5	16711268:16711354:16738244:16738507:16741912:16741989	16738244:16738507	ENSG00000145555.10	ENST00000512061.1
exon_skip_441223	5	16711268:16711354:16754936:16755017:16758226:16758335	16754936:16755017	ENSG00000145555.10	ENST00000513610.1,ENST00000513882.1,ENST00000510401.2
exon_skip_441225	5	16758226:16758335:16761572:16761655:16762153:16762222	16761572:16761655	ENSG00000145555.10	ENST00000513610.1,ENST00000513882.1
exon_skip_441226	5	16761572:16761655:16762153:16762222:16762653:16762746	16762153:16762222	ENSG00000145555.10	ENST00000513610.1,ENST00000513882.1
exon_skip_441230	5	16769182:16769312:16779653:16779757:16780632:16780717	16779653:16779757	ENSG00000145555.10	ENST00000513610.1,ENST00000513882.1
exon_skip_441231	5	16781813:16781938:16783443:16783578:16794754:16794942	16783443:16783578	ENSG00000145555.10	ENST00000513610.1,ENST00000513882.1,ENST00000502436.1
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENSG00000145555.10	ENST00000513610.1,ENST00000513882.1,ENST00000502436.1
exon_skip_441233	5	16794754:16794942:16818117:16818276:16877717:16877816	16818117:16818276	ENSG00000145555.10	ENST00000513610.1,ENST00000513882.1
exon_skip_441234	5	16818117:16818276:16877717:16877816:16935896:16936047	16877717:16877816	ENSG00000145555.10	ENST00000507288.1

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 MYO10

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
ENST00000513610	16676139	16676263	Frame-shift
ENST00000513610	16680055	16680213	Frame-shift
ENST00000513610	16685846	16685940	Frame-shift
ENST00000513610	16699558	16699682	Frame-shift
ENST00000513610	16761572	16761655	Frame-shift
ENST00000513610	16779653	16779757	Frame-shift
ENST00000513610	16794754	16794942	Frame-shift
ENST00000513610	16754936	16755017	In-frame
ENST00000513610	16762153	16762222	In-frame
ENST00000513610	16783443	16783578	In-frame
ENST00000513610	16818117	16818276	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
ENST00000513610	16676139	16676263	Frame-shift
ENST00000513610	16680055	16680213	Frame-shift
ENST00000513610	16685846	16685940	Frame-shift
ENST00000513610	16699558	16699682	Frame-shift
ENST00000513610	16761572	16761655	Frame-shift
ENST00000513610	16779653	16779757	Frame-shift
ENST00000513610	16794754	16794942	Frame-shift
ENST00000513610	16754936	16755017	In-frame
ENST00000513610	16762153	16762222	In-frame
ENST00000513610	16783443	16783578	In-frame
ENST00000513610	16818117	16818276	In-frame

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Infer the effects of exon skipping event on protein functional features for MYO10

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
ENST00000513610	8055	2058	16818117	16818276	576	734	40	93
ENST00000513610	8055	2058	16783443	16783578	923	1057	156	200
ENST00000513610	8055	2058	16762153	16762222	2043	2111	529	552
ENST00000513610	8055	2058	16754936	16755017	2304	2384	616	643

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
ENST00000513610	8055	2058	16818117	16818276	576	734	40	93
ENST00000513610	8055	2058	16783443	16783578	923	1057	156	200
ENST00000513610	8055	2058	16762153	16762222	2043	2111	529	552
ENST00000513610	8055	2058	16754936	16755017	2304	2384	616	643

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
Q9HD67	40	93	1	643	Alternative sequence	ID=VSP_054975;Note=In isoform Headless. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.8
Q9HD67	40	93	41	45	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	54	56	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	93	96	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	1	2058	Chain	ID=PRO_0000123473;Note=Unconventional myosin-X
Q9HD67	40	93	63	739	Domain	Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782
Q9HD67	40	93	46	48	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	68	70	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	76	88	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	51	53	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	156	200	1	643	Alternative sequence	ID=VSP_054975;Note=In isoform Headless. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.8
Q9HD67	156	200	98	2058	Alternative sequence	ID=VSP_054977;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9HD67	156	200	151	156	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	156	200	1	2058	Chain	ID=PRO_0000123473;Note=Unconventional myosin-X
Q9HD67	156	200	63	739	Domain	Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782
Q9HD67	156	200	163	180	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	156	200	186	190	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	156	200	193	208	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	156	200	157	164	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782
Q9HD67	529	552	1	643	Alternative sequence	ID=VSP_054975;Note=In isoform Headless. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.8
Q9HD67	529	552	98	2058	Alternative sequence	ID=VSP_054977;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9HD67	529	552	543	548	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	529	552	551	556	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	529	552	1	2058	Chain	ID=PRO_0000123473;Note=Unconventional myosin-X
Q9HD67	529	552	63	739	Domain	Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782
Q9HD67	616	643	1	643	Alternative sequence	ID=VSP_054975;Note=In isoform Headless. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.8
Q9HD67	616	643	98	2058	Alternative sequence	ID=VSP_054977;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9HD67	616	643	629	637	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	616	643	1	2058	Chain	ID=PRO_0000123473;Note=Unconventional myosin-X
Q9HD67	616	643	63	739	Domain	Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782
Q9HD67	616	643	611	627	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	616	643	619	641	Region	Note=Actin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782

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
Q9HD67	40	93	1	643	Alternative sequence	ID=VSP_054975;Note=In isoform Headless. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.8
Q9HD67	40	93	41	45	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	54	56	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	93	96	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	1	2058	Chain	ID=PRO_0000123473;Note=Unconventional myosin-X
Q9HD67	40	93	63	739	Domain	Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782
Q9HD67	40	93	46	48	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	68	70	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	76	88	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	40	93	51	53	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	156	200	1	643	Alternative sequence	ID=VSP_054975;Note=In isoform Headless. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.8
Q9HD67	156	200	98	2058	Alternative sequence	ID=VSP_054977;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9HD67	156	200	151	156	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	156	200	1	2058	Chain	ID=PRO_0000123473;Note=Unconventional myosin-X
Q9HD67	156	200	63	739	Domain	Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782
Q9HD67	156	200	163	180	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	156	200	186	190	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	156	200	193	208	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	156	200	157	164	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782
Q9HD67	529	552	1	643	Alternative sequence	ID=VSP_054975;Note=In isoform Headless. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.8
Q9HD67	529	552	98	2058	Alternative sequence	ID=VSP_054977;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9HD67	529	552	543	548	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	529	552	551	556	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	529	552	1	2058	Chain	ID=PRO_0000123473;Note=Unconventional myosin-X
Q9HD67	529	552	63	739	Domain	Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782
Q9HD67	616	643	1	643	Alternative sequence	ID=VSP_054975;Note=In isoform Headless. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.8
Q9HD67	616	643	98	2058	Alternative sequence	ID=VSP_054977;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9HD67	616	643	629	637	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	616	643	1	2058	Chain	ID=PRO_0000123473;Note=Unconventional myosin-X
Q9HD67	616	643	63	739	Domain	Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782
Q9HD67	616	643	611	627	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5I0H
Q9HD67	616	643	619	641	Region	Note=Actin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00782

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SNVs in the skipped exons for MYO10

- 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.

MYO10_BRCA_exon_skip_441214_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
LIHC	TCGA-DD-A3A0-01	exon_skip_441213	16676140	16676263	16676167	16676167	Frame_Shift_Del	G	-	p.L1547fs
LIHC	TCGA-DD-A3A0-01	exon_skip_441213	16676140	16676263	16676227	16676227	Frame_Shift_Del	A	-	p.Y1527fs
PAAD	TCGA-HZ-7289-01	exon_skip_441213	16676140	16676263	16676227	16676227	Frame_Shift_Del	A	-	p.Y1527fs
BRCA	TCGA-A7-A13D-01	exon_skip_441214	16680056	16680213	16680064	16680073	Frame_Shift_Del	CTTGAATCAG	-	p.L1509fs
LIHC	TCGA-DD-A1EG-01	exon_skip_441214	16680056	16680213	16680083	16680083	Frame_Shift_Del	G	-	p.P1505fs
LIHC	TCGA-DD-A39Y-01	exon_skip_441214	16680056	16680213	16680083	16680083	Frame_Shift_Del	G	-	p.P1505fs
SKCM	TCGA-ER-A3ES-06	exon_skip_441219	16699559	16699682	16699620	16699620	Frame_Shift_Del	C	-	p.R1166fs
LIHC	TCGA-DD-A1EG-01	exon_skip_441226	16762154	16762222	16762178	16762178	Frame_Shift_Del	A	-	p.F544fs
LIHC	TCGA-DD-A39Y-01	exon_skip_441226	16762154	16762222	16762178	16762178	Frame_Shift_Del	A	-	p.F544fs
LIHC	TCGA-DD-A39Y-01	exon_skip_441226	16762154	16762222	16762178	16762178	Frame_Shift_Del	A	-	p.G545fs
LIHC	TCGA-DD-A39Y-01	exon_skip_441231	16783444	16783578	16783501	16783501	Frame_Shift_Del	A	-	p.L182fs
HNSC	TCGA-CN-6011-01	exon_skip_441213	16676140	16676263	16676206	16676206	Nonsense_Mutation	G	A	p.R1534*
UCEC	TCGA-AP-A059-01	exon_skip_441213	16676140	16676263	16676255	16676255	Nonsense_Mutation	G	T	p.C1517*
BRCA	TCGA-B6-A0IJ-01	exon_skip_441214	16680056	16680213	16680191	16680191	Nonsense_Mutation	G	C	p.Y1469*
LIHC	TCGA-DD-AACQ-01	exon_skip_441230	16779654	16779757	16779718	16779718	Nonsense_Mutation	A	T	p.L289X
KIRP	TCGA-J7-6720-01	exon_skip_441234	16877718	16877816	16877717	16877717	Splice_Site	C	G	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-A7-A13D-01
	Cancer type: BRCA
	ESID: exon_skip_441214
	Skipped exon start: 16680056
	Skipped exon end: 16680213
	Mutation start: 16680064
	Mutation end: 16680073
	Mutation type: Frame_Shift_Del
	Reference seq: CTTGAATCAG
	Mutation seq: -
	AAchange: p.L1509fs
exon_skip_441214_BRCA_TCGA-A7-A13D-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
BICR18_UPPER_AERODIGESTIVE_TRACT	16685847	16685940	16685888	16685888	Frame_Shift_Del	G	-	p.Q1317fs
BECKER_CENTRAL_NERVOUS_SYSTEM	16754937	16755017	16754971	16754971	Frame_Shift_Del	A	-	p.F633fs
BICR18_UPPER_AERODIGESTIVE_TRACT	16685847	16685940	16685885	16685886	Frame_Shift_Ins	-	T	p.E1318fs
NB17_AUTONOMIC_GANGLIA	16676140	16676263	16676191	16676191	Missense_Mutation	G	T	p.P1539T
EN_ENDOMETRIUM	16680056	16680213	16680079	16680079	Missense_Mutation	G	T	p.Q1507K
OC316_OVARY	16680056	16680213	16680099	16680099	Missense_Mutation	G	A	p.A1500V
OC314_OVARY	16680056	16680213	16680099	16680099	Missense_Mutation	G	A	p.A1500V
CW2_LARGE_INTESTINE	16685847	16685940	16685892	16685892	Missense_Mutation	C	A	p.E1315D
IALM_LUNG	16685847	16685940	16685902	16685902	Missense_Mutation	G	A	p.T1312M
PL18_PANCREAS	16699559	16699682	16699679	16699679	Missense_Mutation	C	T	p.E1146K
EKVX_LUNG	16761573	16761655	16761600	16761600	Missense_Mutation	T	C	p.D571G
HEC108_ENDOMETRIUM	16761573	16761655	16761648	16761648	Missense_Mutation	T	C	p.Y555C
TGW_AUTONOMIC_GANGLIA	16779654	16779757	16779698	16779698	Missense_Mutation	C	T	p.E296K
NCIH1355_LUNG	16783444	16783578	16783504	16783504	Missense_Mutation	G	A	p.S181F
ISTSL1_LUNG	16783444	16783578	16783514	16783514	Missense_Mutation	T	C	p.S178G
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	16783444	16783578	16783556	16783556	Missense_Mutation	T	G	p.T164P
NCIH1568_LUNG	16794755	16794942	16794890	16794890	Missense_Mutation	C	A	p.G111V
HEC59_ENDOMETRIUM	16818118	16818276	16818234	16818234	Missense_Mutation	T	C	p.T55A
SISO_CERVIX	16818118	16818276	16818251	16818251	Missense_Mutation	A	G	p.I49T
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	16818118	16818276	16818251	16818251	Missense_Mutation	A	G	p.I49T
NCIH1930_LUNG	16818118	16818276	16818259	16818259	Missense_Mutation	C	A	p.Q46H
HEC59_ENDOMETRIUM	16818118	16818276	16818263	16818263	Missense_Mutation	T	C	p.K45R
COLO783_SKIN	16877718	16877816	16877753	16877753	Missense_Mutation	C	T	p.E29K
RH4_SOFT_TISSUE	16877718	16877816	16877762	16877762	Missense_Mutation	A	T	p.S26T
NCIH322_LUNG	16877718	16877816	16877794	16877794	Missense_Mutation	T	G	p.E15A
HEC251_ENDOMETRIUM	16779654	16779757	16779755	16779755	Nonsense_Mutation	C	A	p.E277*
SW1116_LARGE_INTESTINE	16818118	16818276	16818126	16818126	Nonsense_Mutation	G	A	p.Q91*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYO10

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_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	GBM	rs7737765	chr5:16794780	G/A	1.08e-05
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	COAD	rs7737765	chr5:16794780	G/A	2.51e-12
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	ESCA	rs7737765	chr5:16794780	G/A	1.16e-21
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	KICH	rs7737765	chr5:16794780	G/A	1.93e-04
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	KIRP	rs7737765	chr5:16794780	G/A	1.28e-12
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	LGG	rs7737765	chr5:16794780	G/A	1.33e-11
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	KIRC	rs7737765	chr5:16794780	G/A	1.15e-24
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	LUAD	rs396514	chr5:16794916	G/A	4.28e-05
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	MESO	rs7737765	chr5:16794780	G/A	3.94e-04
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	LIHC	rs7737765	chr5:16794780	G/A	1.25e-07
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	LUSC	rs7737765	chr5:16794780	G/A	4.44e-35
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	OV	rs7737765	chr5:16794780	G/A	2.37e-21
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	OV	rs396514	chr5:16794916	G/A	1.20e-03
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	READ	rs7737765	chr5:16794780	G/A	4.99e-08
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	PAAD	rs7737765	chr5:16794780	G/A	3.27e-18
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	PRAD	rs7737765	chr5:16794780	G/A	1.60e-26
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	SARC	rs7737765	chr5:16794780	G/A	1.33e-13
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	TGCT	rs7737765	chr5:16794780	G/A	4.75e-06
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	SKCM	rs7737765	chr5:16794780	G/A	1.44e-06
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	STAD	rs7737765	chr5:16794780	G/A	1.98e-24
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	THCA	rs7737765	chr5:16794780	G/A	3.77e-32
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	UVM	rs7737765	chr5:16794780	G/A	4.00e-06
exon_skip_441232	5	16783443:16783578:16794754:16794942:16818117:16818276	16794754:16794942	ENST00000513882.1,ENST00000502436.1,ENST00000513610.1	UCEC	rs7737765	chr5:16794780	G/A	1.55e-07

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO10

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO10

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RelatedDrugs for MYO10

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 MYO10

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MYO10	C0043094	Weight Gain	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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