ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MTMR1

Gene summary

Gene information	Gene symbol	MTMR1
	Gene ID	8776
	Gene name	myotubularin related protein 1
	Synonyms	-
	Cytomap	Xq28
	Type of gene	protein-coding
	Description	myotubularin-related protein 1phosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphate phosphatase
	Modification date	20180519
	UniProtAcc	Q13613
	Context	PubMed: MTMR1 [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
MTMR1	GO:0046856	phosphatidylinositol dephosphorylation	11733541\|27018598
MTMR1	GO:0060304	regulation of phosphatidylinositol dephosphorylation	16787938

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Exon skipping events across known transcript of Ensembl for MTMR1 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 MTMR1

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 MTMR1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_512631	X	149861882:149862149:149867667:149867773:149887096:149887172	149867667:149867773	ENSG00000063601.12	ENST00000370390.3,ENST00000451863.2,ENST00000544228.1,ENST00000485376.1,ENST00000542156.1
exon_skip_512637	X	149867680:149867773:149880813:149880837:149882950:149883001	149880813:149880837	ENSG00000063601.12	ENST00000439546.2,ENST00000429965.2
exon_skip_512638	X	149867680:149867773:149880813:149880837:149887096:149887172	149880813:149880837	ENSG00000063601.12	ENST00000445323.2,ENST00000493995.2,ENST00000541925.1
exon_skip_512640	X	149867680:149867773:149882950:149883001:149887096:149887172	149882950:149883001	ENSG00000063601.12	ENST00000490316.2
exon_skip_512642	X	149867680:149867773:149887096:149887172:149895686:149895781	149887096:149887172	ENSG00000063601.12	ENST00000370390.3,ENST00000451863.2,ENST00000544228.1,ENST00000485376.1,ENST00000542156.1
exon_skip_512647	X	149880813:149880837:149881201:149881225:149882950:149883001	149881201:149881225	ENSG00000063601.12	ENST00000434699.2
exon_skip_512648	X	149880813:149880837:149881415:149881442:149882950:149883001	149881415:149881442	ENSG00000063601.12	ENST00000436701.1
exon_skip_512649	X	149880813:149880837:149881415:149881442:149887096:149887172	149881415:149881442	ENSG00000063601.12	ENST00000438018.1
exon_skip_512650	X	149880813:149880837:149882950:149883001:149887096:149887172	149882950:149883001	ENSG00000063601.12	ENST00000439546.2
exon_skip_512651	X	149880813:149880837:149882950:149883004:149887096:149887172	149882950:149883004	ENSG00000063601.12	ENST00000429965.2
exon_skip_512652	X	149881415:149881442:149882950:149883001:149887096:149887172	149882950:149883001	ENSG00000063601.12	ENST00000436701.1
exon_skip_512654	X	149901013:149901202:149905066:149905252:149905713:149905920	149905066:149905252	ENSG00000063601.12	ENST00000370390.3,ENST00000451863.2,ENST00000445323.2,ENST00000544228.1,ENST00000485376.1,ENST00000541925.1
exon_skip_512655	X	149901013:149901202:149905713:149905920:149912832:149912925	149905713:149905920	ENSG00000063601.12	ENST00000538506.1,ENST00000488357.1
exon_skip_512659	X	149912832:149912925:149919201:149919315:149924160:149924337	149919201:149919315	ENSG00000063601.12	ENST00000370390.3,ENST00000445323.2,ENST00000544228.1,ENST00000541925.1
exon_skip_512666	X	149919263:149919315:149919501:149919712:149924160:149924337	149919501:149919712	ENSG00000063601.12	ENST00000485376.1,ENST00000538506.1,ENST00000488357.1
exon_skip_512668	X	149919263:149919315:149924160:149924337:149931037:149931210	149924160:149924337	ENSG00000063601.12	ENST00000370390.3,ENST00000445323.2,ENST00000544228.1,ENST00000541925.1
exon_skip_512669	X	149919501:149919712:149924160:149924337:149931037:149931210	149924160:149924337	ENSG00000063601.12	ENST00000485376.1
exon_skip_512670	X	149924160:149924337:149931037:149931210:149932984:149933397	149931037:149931210	ENSG00000063601.12	ENST00000370390.3,ENST00000485376.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MTMR1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_512631	X	149861882:149862149:149867667:149867773:149887096:149887172	149867667:149867773	ENSG00000063601.12	ENST00000485376.1,ENST00000542156.1,ENST00000370390.3,ENST00000544228.1,ENST00000451863.2
exon_skip_512637	X	149867680:149867773:149880813:149880837:149882950:149883001	149880813:149880837	ENSG00000063601.12	ENST00000439546.2,ENST00000429965.2
exon_skip_512638	X	149867680:149867773:149880813:149880837:149887096:149887172	149880813:149880837	ENSG00000063601.12	ENST00000541925.1,ENST00000493995.2,ENST00000445323.2
exon_skip_512640	X	149867680:149867773:149882950:149883001:149887096:149887172	149882950:149883001	ENSG00000063601.12	ENST00000490316.2
exon_skip_512642	X	149867680:149867773:149887096:149887172:149895686:149895781	149887096:149887172	ENSG00000063601.12	ENST00000485376.1,ENST00000542156.1,ENST00000370390.3,ENST00000544228.1,ENST00000451863.2
exon_skip_512647	X	149880813:149880837:149881201:149881225:149882950:149883001	149881201:149881225	ENSG00000063601.12	ENST00000434699.2
exon_skip_512648	X	149880813:149880837:149881415:149881442:149882950:149883001	149881415:149881442	ENSG00000063601.12	ENST00000436701.1
exon_skip_512649	X	149880813:149880837:149881415:149881442:149887096:149887172	149881415:149881442	ENSG00000063601.12	ENST00000438018.1
exon_skip_512650	X	149880813:149880837:149882950:149883001:149887096:149887172	149882950:149883001	ENSG00000063601.12	ENST00000439546.2
exon_skip_512651	X	149880813:149880837:149882950:149883004:149887096:149887172	149882950:149883004	ENSG00000063601.12	ENST00000429965.2
exon_skip_512652	X	149881415:149881442:149882950:149883001:149887096:149887172	149882950:149883001	ENSG00000063601.12	ENST00000436701.1
exon_skip_512654	X	149901013:149901202:149905066:149905252:149905713:149905920	149905066:149905252	ENSG00000063601.12	ENST00000541925.1,ENST00000485376.1,ENST00000370390.3,ENST00000445323.2,ENST00000544228.1,ENST00000451863.2
exon_skip_512655	X	149901013:149901202:149905713:149905920:149912832:149912925	149905713:149905920	ENSG00000063601.12	ENST00000488357.1,ENST00000538506.1
exon_skip_512659	X	149912832:149912925:149919201:149919315:149924160:149924337	149919201:149919315	ENSG00000063601.12	ENST00000541925.1,ENST00000370390.3,ENST00000445323.2,ENST00000544228.1
exon_skip_512666	X	149919263:149919315:149919501:149919712:149924160:149924337	149919501:149919712	ENSG00000063601.12	ENST00000485376.1,ENST00000488357.1,ENST00000538506.1
exon_skip_512668	X	149919263:149919315:149924160:149924337:149931037:149931210	149924160:149924337	ENSG00000063601.12	ENST00000541925.1,ENST00000370390.3,ENST00000445323.2,ENST00000544228.1
exon_skip_512669	X	149919501:149919712:149924160:149924337:149931037:149931210	149924160:149924337	ENSG00000063601.12	ENST00000485376.1
exon_skip_512670	X	149924160:149924337:149931037:149931210:149932984:149933397	149931037:149931210	ENSG00000063601.12	ENST00000485376.1,ENST00000370390.3

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 MTMR1

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
ENST00000370390	149931037	149931210	3UTR-3CDS
ENST00000370390	149867667	149867773	Frame-shift
ENST00000370390	149887096	149887172	Frame-shift
ENST00000370390	149905066	149905252	In-frame
ENST00000370390	149919201	149919315	In-frame
ENST00000370390	149924160	149924337	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
ENST00000370390	149931037	149931210	3UTR-3CDS
ENST00000370390	149867667	149867773	Frame-shift
ENST00000370390	149887096	149887172	Frame-shift
ENST00000370390	149905066	149905252	In-frame
ENST00000370390	149919201	149919315	In-frame
ENST00000370390	149924160	149924337	In-frame

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Infer the effects of exon skipping event on protein functional features for MTMR1

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
ENST00000370390	2772	665	149905066	149905252	1214	1399	352	414
ENST00000370390	2772	665	149919201	149919315	1700	1813	514	552
ENST00000370390	2772	665	149924160	149924337	1814	1990	552	611

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
ENST00000370390	2772	665	149905066	149905252	1214	1399	352	414
ENST00000370390	2772	665	149919201	149919315	1700	1813	514	552
ENST00000370390	2772	665	149924160	149924337	1814	1990	552	611

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
Q13613	352	414	367	374	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	1	665	Chain	ID=PRO_0000094932;Note=Myotubularin-related protein 1
Q13613	352	414	226	601	Domain	Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00669
Q13613	352	414	345	353	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	377	391	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	397	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	400	407	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	409	428	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	351	354	Region	Note=Substrate binding;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:27018598;Dbxref=PMID:27018598
Q13613	352	414	376	377	Region	Note=Substrate binding;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:27018598;Dbxref=PMID:27018598
Q13613	352	414	361	363	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	514	552	543	545	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	514	552	1	665	Chain	ID=PRO_0000094932;Note=Myotubularin-related protein 1
Q13613	514	552	226	601	Domain	Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00669
Q13613	514	552	500	514	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	514	552	523	535	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	514	552	546	551	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	514	552	541	541	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13613	514	552	516	518	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	553	568	Alternative sequence	ID=VSP_005169;Note=In isoform 1A. DVYTKTISLWSYINSQ->AWGAGTQRARGSLRSR;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13613	552	611	569	665	Alternative sequence	ID=VSP_005170;Note=In isoform 1A. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13613	552	611	1	665	Chain	ID=PRO_0000094932;Note=Myotubularin-related protein 1
Q13613	552	611	226	601	Domain	Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00669
Q13613	552	611	554	557	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	561	567	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	568	572	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	591	593	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	598	601	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	608	665	Region	Note=Required for dimerization;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27018598;Dbxref=PMID:27018598
Q13613	552	611	602	604	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16

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
Q13613	352	414	367	374	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	1	665	Chain	ID=PRO_0000094932;Note=Myotubularin-related protein 1
Q13613	352	414	226	601	Domain	Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00669
Q13613	352	414	345	353	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	377	391	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	397	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	400	407	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	409	428	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	352	414	351	354	Region	Note=Substrate binding;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:27018598;Dbxref=PMID:27018598
Q13613	352	414	376	377	Region	Note=Substrate binding;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:27018598;Dbxref=PMID:27018598
Q13613	352	414	361	363	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	514	552	543	545	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	514	552	1	665	Chain	ID=PRO_0000094932;Note=Myotubularin-related protein 1
Q13613	514	552	226	601	Domain	Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00669
Q13613	514	552	500	514	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	514	552	523	535	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	514	552	546	551	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	514	552	541	541	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13613	514	552	516	518	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	553	568	Alternative sequence	ID=VSP_005169;Note=In isoform 1A. DVYTKTISLWSYINSQ->AWGAGTQRARGSLRSR;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13613	552	611	569	665	Alternative sequence	ID=VSP_005170;Note=In isoform 1A. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13613	552	611	1	665	Chain	ID=PRO_0000094932;Note=Myotubularin-related protein 1
Q13613	552	611	226	601	Domain	Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00669
Q13613	552	611	554	557	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	561	567	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	568	572	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	591	593	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	598	601	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16
Q13613	552	611	608	665	Region	Note=Required for dimerization;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27018598;Dbxref=PMID:27018598
Q13613	552	611	602	604	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C16

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SNVs in the skipped exons for MTMR1

- 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.

MTMR1_CESC_exon_skip_512670_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_512659	149919202	149919315	149919269	149919269	Frame_Shift_Del	T	-	p.L545fs
UCEC	TCGA-D1-A17Q-01	exon_skip_512654	149905067	149905252	149905241	149905241	Nonsense_Mutation	G	T	p.E411*
COAD	TCGA-A6-6781-01	exon_skip_512655	149905714	149905920	149905864	149905864	Nonsense_Mutation	G	T	p.G465X
CESC	TCGA-EA-A3Y4-01	exon_skip_512666	149919502	149919712	149919523	149919523	Nonsense_Mutation	C	T	p.R560*
UCEC	TCGA-AP-A059-01	exon_skip_512666	149919502	149919712	149919523	149919523	Nonsense_Mutation	C	T	p.R385*
SKCM	TCGA-D3-A5GN-06	exon_skip_512669 exon_skip_512668	149924161	149924337	149924335	149924335	Nonsense_Mutation	C	T	p.Q611X
SKCM	TCGA-D3-A5GN-06	exon_skip_512669 exon_skip_512668	149924161	149924337	149924335	149924335	Nonsense_Mutation	C	T	p.Q619*
UCEC	TCGA-AP-A056-01	exon_skip_512670	149931038	149931210	149931091	149931091	Nonsense_Mutation	G	T	p.E163*
CESC	TCGA-C5-A1BL-01	exon_skip_512670	149931038	149931210	149931144	149931144	Nonsense_Mutation	C	A	p.S655*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-C5-A1BL-01
	Cancer type: CESC
	ESID: exon_skip_512670
	Skipped exon start: 149931038
	Skipped exon end: 149931210
	Mutation start: 149931144
	Mutation end: 149931144
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.S655*
exon_skip_377312_CESC_TCGA-C5-A1BL-01.png
exon_skip_512670_CESC_TCGA-C5-A1BL-01.png
	Sample: TCGA-AP-A059-01
	Cancer type: UCEC
	ESID: exon_skip_512666
	Skipped exon start: 149919502
	Skipped exon end: 149919712
	Mutation start: 149919523
	Mutation end: 149919523
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R385*
exon_skip_109805_UCEC_TCGA-AP-A059-01.png
exon_skip_115311_UCEC_TCGA-AP-A059-01.png
exon_skip_24581_UCEC_TCGA-AP-A059-01.png
exon_skip_24582_UCEC_TCGA-AP-A059-01.png
exon_skip_24584_UCEC_TCGA-AP-A059-01.png
exon_skip_288059_UCEC_TCGA-AP-A059-01.png
exon_skip_304943_UCEC_TCGA-AP-A059-01.png
exon_skip_390430_UCEC_TCGA-AP-A059-01.png
exon_skip_477308_UCEC_TCGA-AP-A059-01.png
exon_skip_479028_UCEC_TCGA-AP-A059-01.png
exon_skip_484819_UCEC_TCGA-AP-A059-01.png
exon_skip_497317_UCEC_TCGA-AP-A059-01.png
exon_skip_499703_UCEC_TCGA-AP-A059-01.png
exon_skip_512666_UCEC_TCGA-AP-A059-01.png
exon_skip_5195_UCEC_TCGA-AP-A059-01.png
exon_skip_57355_UCEC_TCGA-AP-A059-01.png
exon_skip_5754_UCEC_TCGA-AP-A059-01.png
exon_skip_71021_UCEC_TCGA-AP-A059-01.png
exon_skip_89692_UCEC_TCGA-AP-A059-01.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
BT483_BREAST	149867668	149867773	149867721	149867721	Missense_Mutation	C	G	p.S67C
TE5_OESOPHAGUS	149867668	149867773	149867748	149867748	Missense_Mutation	C	T	p.S76L
RERFLCAD1_LUNG	149887097	149887172	149887125	149887125	Missense_Mutation	A	T	p.Q94L
HEC251_ENDOMETRIUM	149887097	149887172	149887154	149887154	Missense_Mutation	G	A	p.E104K
SNUC5_LARGE_INTESTINE	149905067	149905252	149905116	149905116	Missense_Mutation	T	C	p.L369P
CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149905067	149905252	149905152	149905152	Missense_Mutation	G	T	p.R381L
JAR_PLACENTA	149905067	149905252	149905196	149905196	Missense_Mutation	G	C	p.D396H
SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149905714	149905920	149905864	149905864	Missense_Mutation	G	A	p.G465R
HEC251_ENDOMETRIUM	149919202	149919315	149919217	149919217	Missense_Mutation	G	A	p.E520K
NCIH1155_LUNG	149931038	149931210	149931081	149931081	Missense_Mutation	C	T	p.A626V
SW48_LARGE_INTESTINE	149931038	149931210	149931126	149931126	Missense_Mutation	C	T	p.T641M
UACC812_BREAST	149931038	149931210	149931128	149931128	Missense_Mutation	C	T	p.R642C
CORL311_LUNG	149931038	149931210	149931131	149931131	Missense_Mutation	G	A	p.A643T
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	149905067	149905252	149905246	149905246	Nonsense_Mutation	T	A	p.Y412*
NCIH2347_LUNG	149905067	149905252	149905251	149905251	Splice_Site	G	T	p.R414M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MTMR1

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MTMR1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MTMR1

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RelatedDrugs for MTMR1

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 MTMR1

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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