ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MTDH

Gene summary

Gene information	Gene symbol	MTDH
	Gene ID	92140
	Gene name	metadherin
	Synonyms	3D3\|AEG-1\|AEG1\|LYRIC\|LYRIC/3D3
	Cytomap	8q22.1
	Type of gene	protein-coding
	Description	protein LYRIC3D3/LYRICastrocyte elevated gene 1astrocyte elevated gene-1 proteinlysine-rich CEACAM1 co-isolated proteinmetastasis adhesion protein
	Modification date	20180523
	UniProtAcc	Q86UE4
	Context	PubMed: MTDH [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
MTDH	GO:0000122	negative regulation of transcription by RNA polymerase II	15927426
MTDH	GO:0010508	positive regulation of autophagy	21127263
MTDH	GO:0043066	negative regulation of apoptotic process	17704808
MTDH	GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	16452207\|18316612
MTDH	GO:0045766	positive regulation of angiogenesis	19940250
MTDH	GO:0051092	positive regulation of NF-kappaB transcription factor activity	16452207\|18316612
MTDH	GO:0051897	positive regulation of protein kinase B signaling	17704808

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Exon skipping events across known transcript of Ensembl for MTDH 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 MTDH

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 MTDH

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_485058	8	98657020:98657115:98673299:98673401:98698895:98698980	98673299:98673401	ENSG00000147649.5	ENST00000522313.1,ENST00000519934.1
exon_skip_485063	8	98673299:98673401:98698895:98698980:98699656:98699833	98698895:98698980	ENSG00000147649.5	ENST00000336273.3,ENST00000522313.1,ENST00000519934.1
exon_skip_485069	8	98698895:98698980:98699656:98699833:98701265:98701331	98699656:98699833	ENSG00000147649.5	ENST00000336273.3,ENST00000519934.1
exon_skip_485070	8	98698895:98698980:98699656:98699833:98703179:98703266	98699656:98699833	ENSG00000147649.5	ENST00000522313.1
exon_skip_485076	8	98699656:98699833:98701265:98701331:98703179:98703266	98701265:98701331	ENSG00000147649.5	ENST00000336273.3,ENST00000519934.1
exon_skip_485083	8	98703358:98703416:98711981:98712080:98718853:98718978	98711981:98712080	ENSG00000147649.5	ENST00000336273.3,ENST00000521933.1
exon_skip_485085	8	98703358:98703416:98718853:98718978:98725889:98725997	98718853:98718978	ENSG00000147649.5	ENST00000519934.1
exon_skip_485088	8	98711981:98712080:98718853:98718978:98725889:98725997	98718853:98718978	ENSG00000147649.5	ENST00000336273.3,ENST00000521933.1
exon_skip_485089	8	98718853:98718978:98725889:98725997:98731276:98731315	98725889:98725997	ENSG00000147649.5	ENST00000336273.3,ENST00000522104.1,ENST00000519934.1
exon_skip_485090	8	98718853:98718978:98725889:98725997:98735106:98735263	98725889:98725997	ENSG00000147649.5	ENST00000521933.1
exon_skip_485092	8	98725889:98725997:98731276:98731417:98735106:98735263	98731276:98731417	ENSG00000147649.5	ENST00000336273.3,ENST00000519293.1,ENST00000519934.1
exon_skip_485095	8	98725889:98725997:98735106:98735263:98736827:98736845	98735106:98735263	ENSG00000147649.5	ENST00000521933.1
exon_skip_485097	8	98731276:98731417:98735106:98735263:98736827:98736845	98735106:98735263	ENSG00000147649.5	ENST00000336273.3,ENST00000519293.1,ENST00000519934.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MTDH

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_485058	8	98657020:98657115:98673299:98673401:98698895:98698980	98673299:98673401	ENSG00000147649.5	ENST00000519934.1,ENST00000522313.1
exon_skip_485063	8	98673299:98673401:98698895:98698980:98699656:98699833	98698895:98698980	ENSG00000147649.5	ENST00000336273.3,ENST00000519934.1,ENST00000522313.1
exon_skip_485069	8	98698895:98698980:98699656:98699833:98701265:98701331	98699656:98699833	ENSG00000147649.5	ENST00000336273.3,ENST00000519934.1
exon_skip_485070	8	98698895:98698980:98699656:98699833:98703179:98703266	98699656:98699833	ENSG00000147649.5	ENST00000522313.1
exon_skip_485076	8	98699656:98699833:98701265:98701331:98703179:98703266	98701265:98701331	ENSG00000147649.5	ENST00000336273.3,ENST00000519934.1
exon_skip_485083	8	98703358:98703416:98711981:98712080:98718853:98718978	98711981:98712080	ENSG00000147649.5	ENST00000336273.3,ENST00000521933.1
exon_skip_485085	8	98703358:98703416:98718853:98718978:98725889:98725997	98718853:98718978	ENSG00000147649.5	ENST00000519934.1
exon_skip_485088	8	98711981:98712080:98718853:98718978:98725889:98725997	98718853:98718978	ENSG00000147649.5	ENST00000336273.3,ENST00000521933.1
exon_skip_485089	8	98718853:98718978:98725889:98725997:98731276:98731315	98725889:98725997	ENSG00000147649.5	ENST00000336273.3,ENST00000519934.1,ENST00000522104.1
exon_skip_485090	8	98718853:98718978:98725889:98725997:98735106:98735263	98725889:98725997	ENSG00000147649.5	ENST00000521933.1
exon_skip_485092	8	98725889:98725997:98731276:98731417:98735106:98735263	98731276:98731417	ENSG00000147649.5	ENST00000336273.3,ENST00000519934.1,ENST00000519293.1
exon_skip_485095	8	98725889:98725997:98735106:98735263:98736827:98736845	98735106:98735263	ENSG00000147649.5	ENST00000521933.1
exon_skip_485097	8	98731276:98731417:98735106:98735263:98736827:98736845	98735106:98735263	ENSG00000147649.5	ENST00000336273.3,ENST00000519934.1,ENST00000519293.1

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 MTDH

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
ENST00000336273	98698895	98698980	Frame-shift
ENST00000336273	98718853	98718978	Frame-shift
ENST00000336273	98735106	98735263	Frame-shift
ENST00000336273	98699656	98699833	In-frame
ENST00000336273	98701265	98701331	In-frame
ENST00000336273	98711981	98712080	In-frame
ENST00000336273	98725889	98725997	In-frame
ENST00000336273	98731276	98731417	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
ENST00000336273	98698895	98698980	Frame-shift
ENST00000336273	98718853	98718978	Frame-shift
ENST00000336273	98735106	98735263	Frame-shift
ENST00000336273	98699656	98699833	In-frame
ENST00000336273	98701265	98701331	In-frame
ENST00000336273	98711981	98712080	In-frame
ENST00000336273	98725889	98725997	In-frame
ENST00000336273	98731276	98731417	In-frame

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

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
ENST00000336273	6194	582	98699656	98699833	897	1073	189	248
ENST00000336273	6194	582	98701265	98701331	1074	1139	248	270
ENST00000336273	6194	582	98711981	98712080	1377	1475	349	382
ENST00000336273	6194	582	98725889	98725997	1601	1708	424	460
ENST00000336273	6194	582	98731276	98731417	1709	1849	460	507

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
ENST00000336273	6194	582	98699656	98699833	897	1073	189	248
ENST00000336273	6194	582	98701265	98701331	1074	1139	248	270
ENST00000336273	6194	582	98711981	98712080	1377	1475	349	382
ENST00000336273	6194	582	98725889	98725997	1601	1708	424	460
ENST00000336273	6194	582	98731276	98731417	1709	1849	460	507

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
Q86UE4	189	248	1	582	Chain	ID=PRO_0000084533;Note=Protein LYRIC
Q86UE4	189	248	216	216	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q86UE4	189	248	101	205	Region	Note=Interaction with RELA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16452207;Dbxref=PMID:16452207
Q86UE4	189	248	70	582	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UE4	248	270	1	582	Chain	ID=PRO_0000084533;Note=Protein LYRIC
Q86UE4	248	270	251	251	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q86UE4	248	270	264	264	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80WJ7
Q86UE4	248	270	70	582	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UE4	349	382	1	582	Chain	ID=PRO_0000084533;Note=Protein LYRIC
Q86UE4	349	382	369	369	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q86UE4	349	382	381	443	Region	Note=Lung-homing for mammary tumors;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q86UE4	349	382	70	582	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UE4	424	460	1	582	Chain	ID=PRO_0000084533;Note=Protein LYRIC
Q86UE4	424	460	441	451	Compositional bias	Note=Poly-Lys
Q86UE4	424	460	426	426	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18088087,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMe
Q86UE4	424	460	457	457	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9Z1W6
Q86UE4	424	460	458	458	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q86UE4	424	460	381	443	Region	Note=Lung-homing for mammary tumors;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q86UE4	424	460	70	582	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UE4	460	507	1	582	Chain	ID=PRO_0000084533;Note=Protein LYRIC
Q86UE4	460	507	478	478	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q86UE4	460	507	494	494	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q86UE4	460	507	496	496	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q86UE4	460	507	70	582	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q86UE4	189	248	1	582	Chain	ID=PRO_0000084533;Note=Protein LYRIC
Q86UE4	189	248	216	216	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q86UE4	189	248	101	205	Region	Note=Interaction with RELA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16452207;Dbxref=PMID:16452207
Q86UE4	189	248	70	582	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UE4	248	270	1	582	Chain	ID=PRO_0000084533;Note=Protein LYRIC
Q86UE4	248	270	251	251	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q86UE4	248	270	264	264	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80WJ7
Q86UE4	248	270	70	582	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UE4	349	382	1	582	Chain	ID=PRO_0000084533;Note=Protein LYRIC
Q86UE4	349	382	369	369	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q86UE4	349	382	381	443	Region	Note=Lung-homing for mammary tumors;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q86UE4	349	382	70	582	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UE4	424	460	1	582	Chain	ID=PRO_0000084533;Note=Protein LYRIC
Q86UE4	424	460	441	451	Compositional bias	Note=Poly-Lys
Q86UE4	424	460	426	426	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18088087,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMe
Q86UE4	424	460	457	457	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9Z1W6
Q86UE4	424	460	458	458	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q86UE4	424	460	381	443	Region	Note=Lung-homing for mammary tumors;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q86UE4	424	460	70	582	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UE4	460	507	1	582	Chain	ID=PRO_0000084533;Note=Protein LYRIC
Q86UE4	460	507	478	478	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q86UE4	460	507	494	494	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q86UE4	460	507	496	496	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q86UE4	460	507	70	582	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for MTDH

- 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
LUAD	TCGA-62-A470-01		98673300	98673401	98673319	98673325	Frame_Shift_Del	AAGTGGC	-	p.EVA134fs
CESC	TCGA-DR-A0ZM-01	exon_skip_485076	98701266	98701331	98701269	98701287	Frame_Shift_Del	ATTCTCATCTAAATGTTCA	-	p.DSHLNVQ250fs
LIHC	TCGA-DD-A3A0-01	exon_skip_485076	98701266	98701331	98701298	98701298	Frame_Shift_Del	T	-	p.F260fs
LIHC	TCGA-DD-A1EG-01	exon_skip_485076	98701266	98701331	98701309	98701309	Frame_Shift_Del	A	-	p.G263fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_485076	98701266	98701331	98701309	98701309	Frame_Shift_Del	A	-	p.G263fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_485083	98711982	98712080	98712030	98712030	Frame_Shift_Del	G	-	p.W366fs
LIHC	TCGA-DD-A1EG-01	exon_skip_485088 exon_skip_485085	98718854	98718978	98718929	98718929	Frame_Shift_Del	A	-	p.E408fs
READ	TCGA-EI-6882-01	exon_skip_485090 exon_skip_485089	98725890	98725997	98725950	98725950	Frame_Shift_Del	A	-	p.K444fs
COAD	TCGA-AD-6889-01	exon_skip_485092	98731277	98731417	98731406	98731406	Frame_Shift_Del	A	-	p.V503fs
LIHC	TCGA-DD-A1EG-01	exon_skip_485097 exon_skip_485095	98735107	98735263	98735160	98735160	Frame_Shift_Del	A	-	p.S525fs
COAD	TCGA-CA-6718-01		98673300	98673401	98673342	98673342	Nonsense_Mutation	C	T	p.R142X
PRAD	TCGA-EJ-7123-01	exon_skip_485076	98701266	98701331	98701313	98701313	Nonsense_Mutation	G	T	p.G265*
BLCA	TCGA-DK-AA6W-01	exon_skip_485088 exon_skip_485085	98718854	98718978	98718938	98718938	Nonsense_Mutation	C	A	p.S411*
BLCA	TCGA-GD-A3OP-01	exon_skip_485088 exon_skip_485085	98718854	98718978	98718973	98718973	Nonsense_Mutation	C	T	p.Q423*
COAD	TCGA-G4-6310-01	exon_skip_485090 exon_skip_485089	98725890	98725997	98725894	98725894	Nonsense_Mutation	C	G	p.S426X
SKCM	TCGA-EE-A2MH-06	exon_skip_485097 exon_skip_485095	98735107	98735263	98735188	98735188	Nonsense_Mutation	C	T	p.Q535*
SKCM	TCGA-EE-A2MH-06	exon_skip_485097 exon_skip_485095	98735107	98735263	98735188	98735188	Nonsense_Mutation	C	T	p.Q535X
CESC	TCGA-C5-A1BQ-01	exon_skip_485088 exon_skip_485085	98718854	98718978	98718853	98718853	Splice_Site	G	C	e8-1

- 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
KM12_LARGE_INTESTINE	98699657	98699833	98699683	98699686	Frame_Shift_Del	AGAG	-	p.RE199fs
SNU175_LARGE_INTESTINE	98725890	98725997	98725950	98725950	Frame_Shift_Del	A	-	p.K451fs
GP2D_LARGE_INTESTINE	98725890	98725997	98725950	98725950	Frame_Shift_Del	A	-	p.K451fs
GP5D_LARGE_INTESTINE	98725890	98725997	98725950	98725950	Frame_Shift_Del	A	-	p.K451fs
HEC6_ENDOMETRIUM	98698896	98698980	98698948	98698950	In_Frame_Del	GTT	-	p.179_180SS>T
NCIH630_LARGE_INTESTINE	98673300	98673401	98673307	98673307	Missense_Mutation	G	T	p.G130V
HS746T_STOMACH	98673300	98673401	98673369	98673369	Missense_Mutation	C	G	p.Q151E
GP2D_LARGE_INTESTINE	98699657	98699833	98699687	98699687	Missense_Mutation	A	G	p.E200G
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	98699657	98699833	98699702	98699702	Missense_Mutation	G	A	p.R205H
GP5D_LARGE_INTESTINE	98699657	98699833	98699759	98699759	Missense_Mutation	T	C	p.I224T
BICR18_UPPER_AERODIGESTIVE_TRACT	98699657	98699833	98699768	98699768	Missense_Mutation	C	T	p.T227I
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	98699657	98699833	98699768	98699768	Missense_Mutation	C	T	p.T227I
S117_SOFT_TISSUE	98699657	98699833	98699768	98699768	Missense_Mutation	C	T	p.T227I
TGBC11TKB_STOMACH	98699657	98699833	98699770	98699770	Missense_Mutation	A	G	p.I228V
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	98711982	98712080	98711991	98711991	Missense_Mutation	C	T	p.A353V
BICR6_UPPER_AERODIGESTIVE_TRACT	98711982	98712080	98712038	98712038	Missense_Mutation	A	G	p.S369G
CORL95_LUNG	98711982	98712080	98712038	98712038	Missense_Mutation	A	T	p.S369C
AU565_BREAST	98711982	98712080	98712047	98712047	Missense_Mutation	C	G	p.Q372E
SKBR3_BREAST	98711982	98712080	98712047	98712047	Missense_Mutation	C	G	p.Q372E
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	98711982	98712080	98712067	98712067	Missense_Mutation	A	T	p.E378D
ESS1_ENDOMETRIUM	98718854	98718978	98718964	98718964	Missense_Mutation	C	T	p.P420S
CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	98718854	98718978	98718965	98718965	Missense_Mutation	C	G	p.P420R
SNGM_ENDOMETRIUM	98725890	98725997	98725894	98725894	Missense_Mutation	C	T	p.S426L
HEC1_ENDOMETRIUM	98725890	98725997	98725896	98725896	Missense_Mutation	G	T	p.D427Y
HEC1B_ENDOMETRIUM	98725890	98725997	98725896	98725896	Missense_Mutation	G	T	p.D427Y
CAOV3_OVARY	98725890	98725997	98725952	98725952	Missense_Mutation	A	C	p.K445N
PACADD188_PANCREAS	98725890	98725997	98725977	98725977	Missense_Mutation	G	A	p.E454K
EFO27_OVARY	98731277	98731417	98731394	98731394	Missense_Mutation	G	A	p.E500K
HCC1599_BREAST	98673300	98673401	98673300	98673300	Splice_Site	C	G	p.P128A
BICR18_UPPER_AERODIGESTIVE_TRACT	98711982	98712080	98711983	98711983	Splice_Site	G	A	p.G350G
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	98711982	98712080	98711983	98711983	Splice_Site	G	A	p.G350G

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

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 MTDH

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

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RelatedDrugs for MTDH

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 MTDH

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MTDH	C0027627	Neoplasm Metastasis	1	CTD_human
MTDH	C1458155	Mammary Neoplasms	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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