ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MTO1

Gene summary

Gene information	Gene symbol	MTO1
	Gene ID	25821
	Gene name	mitochondrial tRNA translation optimization 1
	Synonyms	CGI-02\|COXPD10
	Cytomap	6q13
	Type of gene	protein-coding
	Description	protein MTO1 homolog, mitochondrialhomolog of yeast Mto1mitochondrial MTO1-3mitochondrial translation optimization 1 homolog
	Modification date	20180523
	UniProtAcc	Q9Y2Z2
	Context	PubMed: MTO1 [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 MTO1 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 MTO1

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 MTO1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_453090	6	74171517:74171794:74175931:74176131:74176211:74176329	74175931:74176131	ENSG00000135297.11	ENST00000370300.4,ENST00000498286.1,ENST00000415228.1,ENST00000370308.4,ENST00000462039.1
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENSG00000135297.11	ENST00000521032.1
exon_skip_453093	6	74176215:74176329:74183087:74183377:74189454:74189567	74183087:74183377	ENSG00000135297.11	ENST00000415954.2,ENST00000370300.4,ENST00000498286.1,ENST00000370305.1,ENST00000370308.4
exon_skip_453095	6	74189785:74189849:74190015:74190090:74190397:74190485	74190015:74190090	ENSG00000135297.11	ENST00000370300.4,ENST00000370305.1
exon_skip_453096	6	74189785:74189849:74190040:74190090:74190397:74190485	74190040:74190090	ENSG00000135297.11	ENST00000520366.1
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENSG00000135297.11	ENST00000524046.1
exon_skip_453099	6	74190397:74190528:74190719:74190839:74191762:74191967	74190719:74190839	ENSG00000135297.11	ENST00000415954.2
exon_skip_453102	6	74190397:74190528:74190723:74190839:74191762:74191967	74190723:74190839	ENSG00000135297.11	ENST00000445187.1
exon_skip_453104	6	74190397:74190528:74191751:74191967:74192171:74192257	74191751:74191967	ENSG00000135297.11	ENST00000462039.1
exon_skip_453106	6	74190397:74190528:74191762:74191967:74192171:74192257	74191762:74191967	ENSG00000135297.11	ENST00000370300.4,ENST00000498286.1,ENST00000415228.1,ENST00000370305.1,ENST00000370308.4
exon_skip_453108	6	74190397:74190528:74192171:74192343:74201956:74202048	74192171:74192343	ENSG00000135297.11	ENST00000524046.1
exon_skip_453110	6	74190723:74190839:74191762:74191967:74192171:74192257	74191762:74191967	ENSG00000135297.11	ENST00000415954.2,ENST00000445187.1
exon_skip_453111	6	74191854:74191967:74192171:74192343:74196320:74196484	74192171:74192343	ENSG00000135297.11	ENST00000523763.1
exon_skip_453112	6	74191854:74191967:74192171:74192343:74201956:74202048	74192171:74192343	ENSG00000135297.11	ENST00000415954.2,ENST00000370300.4,ENST00000498286.1,ENST00000415228.1,ENST00000370305.1,ENST00000370308.4,ENST00000521156.1,ENST00000462039.1
exon_skip_453114	6	74192171:74192343:74196320:74196484:74201956:74202048	74196320:74196484	ENSG00000135297.11	ENST00000523763.1
exon_skip_453115	6	74192171:74192343:74201956:74202075:74207458:74207619	74201956:74202075	ENSG00000135297.11	ENST00000415954.2,ENST00000370300.4,ENST00000498286.1,ENST00000415228.1,ENST00000370305.1,ENST00000370308.4,ENST00000462039.1
exon_skip_453116	6	74192171:74192343:74201956:74202075:74210296:74210424	74201956:74202075	ENSG00000135297.11	ENST00000521156.1
exon_skip_453118	6	74201956:74202075:74207458:74207619:74210296:74210424	74207458:74207619	ENSG00000135297.11	ENST00000415954.2,ENST00000370300.4,ENST00000498286.1,ENST00000415228.1,ENST00000370305.1,ENST00000370308.4,ENST00000462039.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MTO1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_453090	6	74171517:74171794:74175931:74176131:74176211:74176329	74175931:74176131	ENSG00000135297.11	ENST00000498286.1,ENST00000370308.4,ENST00000415228.1,ENST00000370300.4,ENST00000462039.1
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENSG00000135297.11	ENST00000521032.1
exon_skip_453093	6	74176215:74176329:74183087:74183377:74189454:74189567	74183087:74183377	ENSG00000135297.11	ENST00000415954.2,ENST00000498286.1,ENST00000370305.1,ENST00000370308.4,ENST00000370300.4
exon_skip_453095	6	74189785:74189849:74190015:74190090:74190397:74190485	74190015:74190090	ENSG00000135297.11	ENST00000370305.1,ENST00000370300.4
exon_skip_453096	6	74189785:74189849:74190040:74190090:74190397:74190485	74190040:74190090	ENSG00000135297.11	ENST00000520366.1
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENSG00000135297.11	ENST00000524046.1
exon_skip_453099	6	74190397:74190528:74190719:74190839:74191762:74191967	74190719:74190839	ENSG00000135297.11	ENST00000415954.2
exon_skip_453102	6	74190397:74190528:74190723:74190839:74191762:74191967	74190723:74190839	ENSG00000135297.11	ENST00000445187.1
exon_skip_453104	6	74190397:74190528:74191751:74191967:74192171:74192257	74191751:74191967	ENSG00000135297.11	ENST00000462039.1
exon_skip_453106	6	74190397:74190528:74191762:74191967:74192171:74192257	74191762:74191967	ENSG00000135297.11	ENST00000498286.1,ENST00000370305.1,ENST00000370308.4,ENST00000415228.1,ENST00000370300.4
exon_skip_453108	6	74190397:74190528:74192171:74192343:74201956:74202048	74192171:74192343	ENSG00000135297.11	ENST00000524046.1
exon_skip_453110	6	74190723:74190839:74191762:74191967:74192171:74192257	74191762:74191967	ENSG00000135297.11	ENST00000415954.2,ENST00000445187.1
exon_skip_453111	6	74191854:74191967:74192171:74192343:74196320:74196484	74192171:74192343	ENSG00000135297.11	ENST00000523763.1
exon_skip_453112	6	74191854:74191967:74192171:74192343:74201956:74202048	74192171:74192343	ENSG00000135297.11	ENST00000415954.2,ENST00000498286.1,ENST00000370305.1,ENST00000370308.4,ENST00000415228.1,ENST00000370300.4,ENST00000462039.1,ENST00000521156.1
exon_skip_453114	6	74192171:74192343:74196320:74196484:74201956:74202048	74196320:74196484	ENSG00000135297.11	ENST00000523763.1
exon_skip_453115	6	74192171:74192343:74201956:74202075:74207458:74207619	74201956:74202075	ENSG00000135297.11	ENST00000415954.2,ENST00000498286.1,ENST00000370305.1,ENST00000370308.4,ENST00000415228.1,ENST00000370300.4,ENST00000462039.1
exon_skip_453116	6	74192171:74192343:74201956:74202075:74210296:74210424	74201956:74202075	ENSG00000135297.11	ENST00000521156.1
exon_skip_453118	6	74201956:74202075:74207458:74207619:74210296:74210424	74207458:74207619	ENSG00000135297.11	ENST00000415954.2,ENST00000498286.1,ENST00000370305.1,ENST00000370308.4,ENST00000415228.1,ENST00000370300.4,ENST00000462039.1

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 MTO1

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
ENST00000370300	74175931	74176131	Frame-shift
ENST00000370300	74183087	74183377	Frame-shift
ENST00000370300	74191762	74191967	Frame-shift
ENST00000370300	74192171	74192343	Frame-shift
ENST00000370300	74201956	74202075	Frame-shift
ENST00000370300	74207458	74207619	Frame-shift
ENST00000370300	74190015	74190090	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
ENST00000370300	74175931	74176131	Frame-shift
ENST00000370300	74183087	74183377	Frame-shift
ENST00000370300	74191762	74191967	Frame-shift
ENST00000370300	74192171	74192343	Frame-shift
ENST00000370300	74201956	74202075	Frame-shift
ENST00000370300	74207458	74207619	Frame-shift
ENST00000370300	74190015	74190090	In-frame

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Infer the effects of exon skipping event on protein functional features for MTO1

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
ENST00000370300	2978	717	74190015	74190090	1220	1294	376	401

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
ENST00000370300	2978	717	74190015	74190090	1220	1294	376	401

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 MTO1

- 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-G3-A3CJ-01	exon_skip_453093	74183088	74183377	74183240	74183240	Frame_Shift_Del	T	-	p.F230fs
HNSC	TCGA-CR-7372-01	exon_skip_453090	74175932	74176131	74176036	74176037	Frame_Shift_Ins	-	GT	p.C108fs
HNSC	TCGA-CR-7372-01	exon_skip_453090	74175932	74176131	74176036	74176037	Frame_Shift_Ins	-	GT	p.G108fs
LUAD	TCGA-75-6211-01	exon_skip_453093	74183088	74183377	74183111	74183111	Nonsense_Mutation	G	T	p.E187*
ESCA	TCGA-Q9-A6FW-01	exon_skip_453097	74190398	74190528	74190469	74190469	Nonsense_Mutation	C	T	p.R401*
ESCA	TCGA-Q9-A6FW-01	exon_skip_453097	74190398	74190528	74190469	74190469	Nonsense_Mutation	C	T	p.R426X

- 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
AN3CA_ENDOMETRIUM	74191763	74191967	74191920	74191921	Frame_Shift_Ins	-	T	p.L499fs
AN3CA_ENDOMETRIUM	74191752	74191967	74191920	74191921	Frame_Shift_Ins	-	T	p.L499fs
HS840T_FIBROBLAST	74175932	74176131	74176018	74176018	Missense_Mutation	C	T	p.R102C
UMUC16_URINARY_TRACT	74175932	74176131	74176060	74176060	Missense_Mutation	C	T	p.R116W
HCT116_LARGE_INTESTINE	74175932	74176131	74176060	74176060	Missense_Mutation	C	T	p.R116W
HCC2998_LARGE_INTESTINE	74175932	74176131	74176075	74176075	Missense_Mutation	G	A	p.A121T
HEC108_ENDOMETRIUM	74183088	74183377	74183103	74183103	Missense_Mutation	T	C	p.V184A
SKNDZ_AUTONOMIC_GANGLIA	74183088	74183377	74183192	74183192	Missense_Mutation	G	A	p.G214R
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74183088	74183377	74183193	74183193	Missense_Mutation	G	T	p.G214V
NCIH211_LUNG	74183088	74183377	74183250	74183250	Missense_Mutation	G	C	p.G233A
JHUEM7_ENDOMETRIUM	74183088	74183377	74183277	74183277	Missense_Mutation	G	A	p.R242Q
TE5_OESOPHAGUS	74183088	74183377	74183364	74183364	Missense_Mutation	C	T	p.T271I
MDAMB175VII_BREAST	74190398	74190528	74190505	74190505	Missense_Mutation	G	A	p.G438S
NCIH196_LUNG	74191763	74191967	74191803	74191803	Missense_Mutation	G	A	p.R459H
NCIH196_LUNG	74191752	74191967	74191803	74191803	Missense_Mutation	G	A	p.R459H
A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74191763	74191967	74191808	74191808	Missense_Mutation	C	A	p.P461T
A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74191752	74191967	74191808	74191808	Missense_Mutation	C	A	p.P461T
NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74191763	74191967	74191808	74191808	Missense_Mutation	C	A	p.P461T
NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74191752	74191967	74191808	74191808	Missense_Mutation	C	A	p.P461T
TT_THYROID	74191763	74191967	74191842	74191842	Missense_Mutation	T	C	p.I472T
TT_THYROID	74191752	74191967	74191842	74191842	Missense_Mutation	T	C	p.I472T
TOV21G_OVARY	74191763	74191967	74191854	74191854	Missense_Mutation	T	A	p.I476N
TOV21G_OVARY	74191752	74191967	74191854	74191854	Missense_Mutation	T	A	p.I476N
SNGM_ENDOMETRIUM	74191763	74191967	74191944	74191944	Missense_Mutation	C	G	p.A506G
SNGM_ENDOMETRIUM	74191752	74191967	74191944	74191944	Missense_Mutation	C	G	p.A506G
SW1783_CENTRAL_NERVOUS_SYSTEM	74192172	74192343	74192205	74192205	Missense_Mutation	G	A	p.R525Q
TE14_OESOPHAGUS	74192172	74192343	74192214	74192214	Missense_Mutation	G	A	p.R528K
UMUC14_URINARY_TRACT	74192172	74192343	74192216	74192216	Missense_Mutation	G	A	p.A529T
CHLA06ATRT_SOFT_TISSUE	74192172	74192343	74192322	74192322	Missense_Mutation	C	T	p.T564I
HEC251_ENDOMETRIUM	74201957	74202075	74201964	74201964	Missense_Mutation	G	A	p.D574N
CAL33_UPPER_AERODIGESTIVE_TRACT	74201957	74202075	74201979	74201979	Missense_Mutation	G	A	p.E579K
LC2AD_LUNG	74201957	74202075	74202057	74202057	Missense_Mutation	G	A	p.E605K
SKN_ENDOMETRIUM	74201957	74202075	74202071	74202071	Missense_Mutation	A	G	p.I609M
NCIH292_LUNG	74207459	74207619	74207511	74207511	Missense_Mutation	G	T	p.Q628H
SNU387_LIVER	74207459	74207619	74207616	74207616	Missense_Mutation	G	C	p.Q663H
HCT15_LARGE_INTESTINE	74207459	74207619	74207494	74207494	Nonsense_Mutation	G	T	p.E623*
HKA1_SKIN	74207459	74207619	74207587	74207587	Nonsense_Mutation	C	T	p.R654*
KYSE140_OESOPHAGUS	74192172	74192343	74192343	74192343	Splice_Site	G	C	p.R571T
RCM1_LARGE_INTESTINE	74192172	74192343	74192343	74192343	Splice_Site	G	C	p.R571T
RERFLCKJ_LUNG	74192172	74192343	74192343	74192343	Splice_Site	G	C	p.R571T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MTO1

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_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	COAD	rs2036039	chr6:74190448	A/G	4.31e-04
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	BLCA	rs2036039	chr6:74190448	A/G	2.40e-06
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	ESCA	rs2036039	chr6:74190448	A/G	7.73e-04
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	HNSC	rs2036039	chr6:74190448	A/G	1.49e-11
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	BRCA	rs2036039	chr6:74190448	A/G	7.11e-11
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	BRCA	rs2036039	chr6:74190448	A/G	4.81e-04
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	KIRP	rs2036039	chr6:74190448	A/G	4.08e-05
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	LGG	rs2036039	chr6:74190448	A/G	3.59e-06
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	KIRC	rs2036039	chr6:74190448	A/G	1.23e-05
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	KIRC	rs2036039	chr6:74190448	A/G	2.71e-04
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	LUAD	rs2036039	chr6:74190448	A/G	1.40e-05
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	LUAD	rs2036039	chr6:74190448	A/G	6.19e-04
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	LIHC	rs2036039	chr6:74190448	A/G	2.32e-07
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	LUSC	rs2036039	chr6:74190448	A/G	5.93e-14
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	PRAD	rs2036039	chr6:74190448	A/G	5.11e-10
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	TGCT	rs2036039	chr6:74190448	A/G	9.49e-04
exon_skip_453097	6	74190040:74190090:74190397:74190528:74192171:74192257	74190397:74190528	ENST00000524046.1	THCA	rs2036039	chr6:74190448	A/G	2.58e-14
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	CESC	rs6453676	chr6:74181194	G/A	1.22e-03
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	COAD	rs6453676	chr6:74181194	G/A	1.51e-03
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	BLCA	rs6453676	chr6:74181194	G/A	3.41e-05
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	HNSC	rs6453676	chr6:74181194	G/A	9.37e-12
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	HNSC	rs6453676	chr6:74181194	G/A	1.45e-03
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	BRCA	rs6453676	chr6:74181194	G/A	2.17e-12
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	BRCA	rs6453676	chr6:74181194	G/A	2.74e-04
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	KIRP	rs6453676	chr6:74181194	G/A	6.77e-04
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	LGG	rs6453676	chr6:74181194	G/A	5.74e-06
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	KIRC	rs6453676	chr6:74181194	G/A	2.05e-07
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	KIRC	rs6453676	chr6:74181194	G/A	2.85e-03
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	LUAD	rs6453676	chr6:74181194	G/A	2.72e-06
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	LIHC	rs6453676	chr6:74181194	G/A	9.07e-08
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	LUSC	rs6453676	chr6:74181194	G/A	5.05e-16
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	PRAD	rs6453676	chr6:74181194	G/A	3.74e-12
exon_skip_453092	6	74176215:74176329:74181182:74181280:74183087:74183134	74181182:74181280	ENST00000521032.1	THCA	rs6453676	chr6:74181194	G/A	1.48e-13

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MTO1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MTO1

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RelatedDrugs for MTO1

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 MTO1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MTO1	C3553529	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10	1	ORPHANET;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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