ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MGA

Gene summary

Gene information	Gene symbol	MGA
	Gene ID	23269
	Gene name	MGA, MAX dimerization protein
	Synonyms	MAD5\|MXD5
	Cytomap	15q15.1
	Type of gene	protein-coding
	Description	MAX gene-associated proteinMAX dimerization protein 5
	Modification date	20180519
	UniProtAcc	Q8IWI9
	Context	PubMed: MGA [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 MGA 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 MGA

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 MGA

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_121143	15	41913733:41913787:41961025:41962156:41988272:41988781	41961025:41962156	ENSG00000174197.12	ENST00000563576.1
exon_skip_121145	15	41952609:41952723:41961025:41962156:41988272:41988781	41961025:41962156	ENSG00000174197.12	ENST00000545763.1,ENST00000219905.7,ENST00000566718.1,ENST00000389936.4
exon_skip_121147	15	41999925:42000057:42000301:42000406:42002888:42003547	42000301:42000406	ENSG00000174197.12	ENST00000563576.1,ENST00000545763.1,ENST00000566586.1,ENST00000219905.7,ENST00000566718.1,ENST00000570161.1,ENST00000389936.4
exon_skip_121151	15	42002888:42003547:42005348:42005694:42019377:42019604	42005348:42005694	ENSG00000174197.12	ENST00000545763.1,ENST00000566586.1,ENST00000219905.7,ENST00000570161.1,ENST00000389936.4
exon_skip_121152	15	42019377:42019604:42021361:42021547:42026719:42026792	42021361:42021547	ENSG00000174197.12	ENST00000545763.1,ENST00000566586.1,ENST00000219905.7,ENST00000570161.1,ENST00000389936.4
exon_skip_121153	15	42021361:42021547:42026719:42026792:42028378:42028566	42026719:42026792	ENSG00000174197.12	ENST00000545763.1,ENST00000566586.1,ENST00000219905.7,ENST00000570161.1,ENST00000389936.4
exon_skip_121157	15	42028378:42028896:42032250:42032401:42040834:42040910	42032250:42032401	ENSG00000174197.12	ENST00000545763.1,ENST00000566586.1
exon_skip_121160	15	42032254:42032401:42034743:42035370:42040834:42040910	42034743:42035370	ENSG00000174197.12	ENST00000564190.1,ENST00000219905.7,ENST00000570161.1,ENST00000389936.4
exon_skip_121162	15	42046634:42046765:42049985:42050037:42052520:42052727	42049985:42050037	ENSG00000174197.12	ENST00000545763.1,ENST00000566586.1,ENST00000564190.1,ENST00000219905.7,ENST00000570161.1,ENST00000389936.4
exon_skip_121165	15	42049985:42050037:42052520:42052727:42053936:42054048	42052520:42052727	ENSG00000174197.12	ENST00000545763.1,ENST00000566586.1,ENST00000564190.1,ENST00000219905.7,ENST00000570161.1,ENST00000389936.4
exon_skip_121166	15	42052520:42052727:42053936:42054048:42054326:42054395	42053936:42054048	ENSG00000174197.12	ENST00000545763.1,ENST00000566586.1,ENST00000564190.1,ENST00000219905.7,ENST00000568255.1,ENST00000570161.1,ENST00000389936.4
exon_skip_121167	15	42053936:42054048:42054326:42054560:42057083:42057260	42054326:42054560	ENSG00000174197.12	ENST00000545763.1,ENST00000566586.1,ENST00000219905.7,ENST00000570161.1,ENST00000389936.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MGA

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_121143	15	41913733:41913787:41961025:41962156:41988272:41988781	41961025:41962156	ENSG00000174197.12	ENST00000563576.1
exon_skip_121145	15	41952609:41952723:41961025:41962156:41988272:41988781	41961025:41962156	ENSG00000174197.12	ENST00000566718.1,ENST00000219905.7,ENST00000389936.4,ENST00000545763.1
exon_skip_121147	15	41999925:42000057:42000301:42000406:42002888:42003547	42000301:42000406	ENSG00000174197.12	ENST00000563576.1,ENST00000566718.1,ENST00000219905.7,ENST00000389936.4,ENST00000545763.1,ENST00000566586.1,ENST00000570161.1
exon_skip_121153	15	42021361:42021547:42026719:42026792:42028378:42028566	42026719:42026792	ENSG00000174197.12	ENST00000219905.7,ENST00000389936.4,ENST00000545763.1,ENST00000566586.1,ENST00000570161.1
exon_skip_121157	15	42028378:42028896:42032250:42032401:42040834:42040910	42032250:42032401	ENSG00000174197.12	ENST00000545763.1,ENST00000566586.1
exon_skip_121160	15	42032254:42032401:42034743:42035370:42040834:42040910	42034743:42035370	ENSG00000174197.12	ENST00000219905.7,ENST00000389936.4,ENST00000570161.1,ENST00000564190.1
exon_skip_121162	15	42046634:42046765:42049985:42050037:42052520:42052727	42049985:42050037	ENSG00000174197.12	ENST00000219905.7,ENST00000389936.4,ENST00000545763.1,ENST00000566586.1,ENST00000570161.1,ENST00000564190.1
exon_skip_121165	15	42049985:42050037:42052520:42052727:42053936:42054048	42052520:42052727	ENSG00000174197.12	ENST00000219905.7,ENST00000389936.4,ENST00000545763.1,ENST00000566586.1,ENST00000570161.1,ENST00000564190.1
exon_skip_121166	15	42052520:42052727:42053936:42054048:42054326:42054395	42053936:42054048	ENSG00000174197.12	ENST00000219905.7,ENST00000389936.4,ENST00000545763.1,ENST00000566586.1,ENST00000570161.1,ENST00000564190.1,ENST00000568255.1
exon_skip_121167	15	42053936:42054048:42054326:42054560:42057083:42057260	42054326:42054560	ENSG00000174197.12	ENST00000219905.7,ENST00000389936.4,ENST00000545763.1,ENST00000566586.1,ENST00000570161.1

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 MGA

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

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

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

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

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

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 MGA

- 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.

MGA_LUSC_exon_skip_121160_psi_boxplot.png
boxplot

MGA_STAD_exon_skip_121160_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-G3-A3CJ-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961117	41961117	Frame_Shift_Del	T	-	p.L9fs
LIHC	TCGA-DD-A1EG-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961239	41961239	Frame_Shift_Del	T	-	p.A49fs
LIHC	TCGA-DD-A1EG-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961551	41961551	Frame_Shift_Del	G	-	p.L153fs
LIHC	TCGA-DD-A1EG-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961559	41961559	Frame_Shift_Del	T	-	p.V156fs
LIHC	TCGA-DD-A3A0-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961559	41961559	Frame_Shift_Del	T	-	p.V156fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961559	41961559	Frame_Shift_Del	T	-	p.V156fs
KIRC	TCGA-BP-4962-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961876	41961876	Frame_Shift_Del	G	-	p.D261fs
KIRC	TCGA-BP-4962-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961876	41961876	Frame_Shift_Del	G	-	p.G262fs
LIHC	TCGA-DD-A1EG-01	exon_skip_121151	42005349	42005694	42005538	42005538	Frame_Shift_Del	G	-	p.G1093fs
LUAD	TCGA-95-7043-01	exon_skip_121152	42021362	42021547	42021366	42021366	Frame_Shift_Del	G	-	p.R1221fs
LIHC	TCGA-DD-A39Y-01	exon_skip_121152	42021362	42021547	42021442	42021442	Frame_Shift_Del	A	-	p.R1246fs
LUAD	TCGA-55-8506-01	exon_skip_121152	42021362	42021547	42021442	42021442	Frame_Shift_Del	A	-	p.R1246fs
STAD	TCGA-BR-8361-01	exon_skip_121152	42021362	42021547	42021442	42021442	Frame_Shift_Del	A	-	p.R1246fs
LIHC	TCGA-DD-A1EG-01	exon_skip_121157	42032251	42032401	42032302	42032302	Frame_Shift_Del	C	-	p.P1496fs
LIHC	TCGA-DD-A3A0-01	exon_skip_121157	42032251	42032401	42032388	42032388	Frame_Shift_Del	A	-	p.A1524fs
LUSC	TCGA-43-6143-01	exon_skip_121160	42034744	42035370	42034848	42034848	Frame_Shift_Del	G	-	p.G1564fs
LIHC	TCGA-DD-A3A0-01	exon_skip_121160	42034744	42035370	42034903	42034903	Frame_Shift_Del	T	-	p.V1582fs
STAD	TCGA-BR-6452-01	exon_skip_121160	42034744	42035370	42034971	42034971	Frame_Shift_Del	T	-	p.V1604fs
STAD	TCGA-HJ-7597-01	exon_skip_121160	42034744	42035370	42034971	42034971	Frame_Shift_Del	T	-	p.V1604fs
PRAD	TCGA-V1-A9OF-01	exon_skip_121160	42034744	42035370	42035324	42035325	Frame_Shift_Del	TA	-	p.II1722fs
LUAD	TCGA-69-7974-01	exon_skip_121162	42049986	42050037	42050012	42050012	Frame_Shift_Del	A	-	p.E2389fs
KIRC	TCGA-CZ-4863-01	exon_skip_121162	42049986	42050037	42050033	42050033	Frame_Shift_Del	G	-	p.R2396fs
LIHC	TCGA-DD-A3A0-01	exon_skip_121165	42052521	42052727	42052538	42052538	Frame_Shift_Del	A	-	p.L2403fs
LIHC	TCGA-DD-A1EG-01	exon_skip_121166	42053937	42054048	42053976	42053976	Frame_Shift_Del	A	-	p.K2480fs
LIHC	TCGA-DD-A3A0-01	exon_skip_121167	42054327	42054560	42054396	42054396	Frame_Shift_Del	A	-	p.Q2527fs
LIHC	TCGA-DD-A39Y-01	exon_skip_121167	42054327	42054560	42054403	42054403	Frame_Shift_Del	A	-	p.R2529fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_121167	42054327	42054560	42054541	42054541	Frame_Shift_Del	A	-	p.R2575fs
STAD	TCGA-CG-4477-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961472	41961473	Frame_Shift_Ins	-	TATC	p.I127fs
LUAD	TCGA-44-7670-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961546	41961547	Frame_Shift_Ins	-	T	p.F152fs
LUAD	TCGA-44-7670-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961546	41961547	Frame_Shift_Ins	-	T	p.V152fs
STAD	TCGA-BR-4201-01	exon_skip_121151	42005349	42005694	42005394	42005395	Frame_Shift_Ins	-	C	p.A1044fs
STAD	TCGA-BR-4201-01	exon_skip_121151	42005349	42005694	42005395	42005396	Frame_Shift_Ins	-	C	p.A1044fs
COAD	TCGA-AA-3510-01	exon_skip_121152	42021362	42021547	42021441	42021442	Frame_Shift_Ins	-	A	p.R1246fs
COAD	TCGA-AA-3663-01	exon_skip_121152	42021362	42021547	42021441	42021442	Frame_Shift_Ins	-	A	p.R1246fs
LIHC	TCGA-BC-A112-01	exon_skip_121152	42021362	42021547	42021441	42021442	Frame_Shift_Ins	-	A	p.Q1246fs
UCEC	TCGA-D1-A176-01	exon_skip_121152	42021362	42021547	42021441	42021442	Frame_Shift_Ins	-	A	p.R1246fs
STAD	TCGA-CG-4465-01	exon_skip_121167	42054327	42054560	42054515	42054516	Frame_Shift_Ins	-	G	p.R2567fs
STAD	TCGA-CG-4465-01	exon_skip_121167	42054327	42054560	42054516	42054517	Frame_Shift_Ins	-	G	p.R2567fs
COAD	TCGA-A6-5665-01	exon_skip_121167	42054327	42054560	42054540	42054541	Frame_Shift_Ins	-	A	p.R2366fs
LGG	TCGA-S9-A6WQ-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961363	41961363	Nonsense_Mutation	C	T	p.R91*
CESC	TCGA-LP-A5U3-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961606	41961606	Nonsense_Mutation	C	T	p.Q172*
HNSC	TCGA-CV-A6K2-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961828	41961828	Nonsense_Mutation	C	T	p.Q246*
BLCA	TCGA-UY-A78K-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961909	41961909	Nonsense_Mutation	C	T	p.Q273*
PRAD	TCGA-KK-A7AP-01	exon_skip_121145 exon_skip_121143	41961026	41962156	41961930	41961930	Nonsense_Mutation	G	T	p.E280*
LUAD	TCGA-55-7907-01	exon_skip_121147	42000302	42000406	42000361	42000361	Nonsense_Mutation	G	T	p.G794*
READ	TCGA-EI-6917-01	exon_skip_121147	42000302	42000406	42000403	42000403	Nonsense_Mutation	G	T	p.E808X
LUAD	TCGA-69-7974-01	exon_skip_121151	42005349	42005694	42005391	42005391	Nonsense_Mutation	C	T	p.R1043*
STAD	TCGA-HU-A4H8-01	exon_skip_121151	42005349	42005694	42005391	42005391	Nonsense_Mutation	C	T	p.R1043*
STAD	TCGA-HU-A4H8-01	exon_skip_121151	42005349	42005694	42005391	42005391	Nonsense_Mutation	C	T	p.R1043X
UCEC	TCGA-B5-A0JR-01	exon_skip_121151	42005349	42005694	42005421	42005421	Nonsense_Mutation	C	T	p.R1053*
LUAD	TCGA-55-6968-01	exon_skip_121151	42005349	42005694	42005481	42005481	Nonsense_Mutation	C	T	p.R1073*
BLCA	TCGA-G2-A2EO-01	exon_skip_121152	42021362	42021547	42021428	42021428	Nonsense_Mutation	C	T	p.R1242*
COAD	TCGA-AZ-4315-01	exon_skip_121152	42021362	42021547	42021428	42021428	Nonsense_Mutation	C	T	p.R1242X
SKCM	TCGA-EB-A3Y7-01	exon_skip_121152	42021362	42021547	42021428	42021428	Nonsense_Mutation	C	T	p.R1242*
SKCM	TCGA-EB-A3Y7-01	exon_skip_121152	42021362	42021547	42021428	42021428	Nonsense_Mutation	C	T	p.R1242X
UCEC	TCGA-B5-A11N-01	exon_skip_121152	42021362	42021547	42021428	42021428	Nonsense_Mutation	C	T	p.R1242*
ESCA	TCGA-L5-A8NQ-01	exon_skip_121152	42021362	42021547	42021437	42021437	Nonsense_Mutation	G	T	p.E1245X
STAD	TCGA-BR-8680-01	exon_skip_121152	42021362	42021547	42021440	42021440	Nonsense_Mutation	C	T	p.R1246*
STAD	TCGA-BR-8680-01	exon_skip_121152	42021362	42021547	42021440	42021440	Nonsense_Mutation	C	T	p.R1246X
LUAD	TCGA-49-6743-01	exon_skip_121152	42021362	42021547	42021492	42021492	Nonsense_Mutation	C	A	p.S1263*
STAD	TCGA-BR-4184-01	exon_skip_121160	42034744	42035370	42035042	42035042	Nonsense_Mutation	T	A	p.Y1628*
COAD	TCGA-A6-6141-01	exon_skip_121162	42049986	42050037	42050032	42050032	Nonsense_Mutation	C	T	p.R2396X
SKCM	TCGA-EE-A2MT-06	exon_skip_121162	42049986	42050037	42050032	42050032	Nonsense_Mutation	C	T	p.R2396*
SKCM	TCGA-EE-A2MT-06	exon_skip_121162	42049986	42050037	42050032	42050032	Nonsense_Mutation	C	T	p.R2396X
SKCM	TCGA-ER-A19E-06	exon_skip_121162	42049986	42050037	42050032	42050032	Nonsense_Mutation	C	T	p.R2396*
SKCM	TCGA-ER-A19E-06	exon_skip_121162	42049986	42050037	42050032	42050032	Nonsense_Mutation	C	T	p.R2396X
LUAD	TCGA-17-Z032-01	exon_skip_121165	42052521	42052727	42052641	42052641	Nonsense_Mutation	G	T	p.E2438*
UCEC	TCGA-AJ-A23M-01	exon_skip_121165	42052521	42052727	42052641	42052641	Nonsense_Mutation	G	T	p.E2487*
STAD	TCGA-BR-8589-01	exon_skip_121166	42053937	42054048	42053967	42053967	Nonsense_Mutation	C	T	p.Q2477*
UCEC	TCGA-B5-A0K9-01	exon_skip_121166	42053937	42054048	42053985	42053985	Nonsense_Mutation	G	T	p.G2483*
UCEC	TCGA-B5-A0K9-01	exon_skip_121166	42053937	42054048	42053985	42053985	Nonsense_Mutation	G	T	p.G2532*
COAD	TCGA-AY-6197-01	exon_skip_121165	42052521	42052727	42052728	42052728	Splice_Site	G	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-43-6143-01
	Cancer type: LUSC
	ESID: exon_skip_121160
	Skipped exon start: 42034744
	Skipped exon end: 42035370
	Mutation start: 42034848
	Mutation end: 42034848
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.G1564fs
exon_skip_121160_LUSC_TCGA-43-6143-01.png
exon_skip_301206_LUSC_TCGA-43-6143-01.png
	Sample: TCGA-BR-6452-01
	Cancer type: STAD
	ESID: exon_skip_121160
	Skipped exon start: 42034744
	Skipped exon end: 42035370
	Mutation start: 42034971
	Mutation end: 42034971
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.V1604fs
exon_skip_106795_STAD_TCGA-BR-6452-01.png
exon_skip_108765_STAD_TCGA-BR-6452-01.png
exon_skip_108766_STAD_TCGA-BR-6452-01.png
exon_skip_121160_STAD_TCGA-BR-6452-01.png
exon_skip_23930_STAD_TCGA-BR-6452-01.png
exon_skip_285856_STAD_TCGA-BR-6452-01.png
exon_skip_287166_STAD_TCGA-BR-6452-01.png
exon_skip_289814_STAD_TCGA-BR-6452-01.png
exon_skip_294522_STAD_TCGA-BR-6452-01.png
exon_skip_306852_STAD_TCGA-BR-6452-01.png
exon_skip_32096_STAD_TCGA-BR-6452-01.png
exon_skip_323984_STAD_TCGA-BR-6452-01.png
exon_skip_328488_STAD_TCGA-BR-6452-01.png
exon_skip_346425_STAD_TCGA-BR-6452-01.png
exon_skip_346426_STAD_TCGA-BR-6452-01.png
exon_skip_346508_STAD_TCGA-BR-6452-01.png
exon_skip_363933_STAD_TCGA-BR-6452-01.png
exon_skip_36702_STAD_TCGA-BR-6452-01.png
exon_skip_374468_STAD_TCGA-BR-6452-01.png
exon_skip_374469_STAD_TCGA-BR-6452-01.png
exon_skip_3814_STAD_TCGA-BR-6452-01.png
exon_skip_3815_STAD_TCGA-BR-6452-01.png
exon_skip_38648_STAD_TCGA-BR-6452-01.png
exon_skip_42656_STAD_TCGA-BR-6452-01.png
exon_skip_434406_STAD_TCGA-BR-6452-01.png
exon_skip_450406_STAD_TCGA-BR-6452-01.png
exon_skip_489149_STAD_TCGA-BR-6452-01.png
exon_skip_495200_STAD_TCGA-BR-6452-01.png
exon_skip_496317_STAD_TCGA-BR-6452-01.png
exon_skip_503611_STAD_TCGA-BR-6452-01.png
exon_skip_515792_STAD_TCGA-BR-6452-01.png
exon_skip_516330_STAD_TCGA-BR-6452-01.png
exon_skip_98550_STAD_TCGA-BR-6452-01.png
	Sample: TCGA-HJ-7597-01
	Cancer type: STAD
	ESID: exon_skip_121160
	Skipped exon start: 42034744
	Skipped exon end: 42035370
	Mutation start: 42034971
	Mutation end: 42034971
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.V1604fs
exon_skip_112042_STAD_TCGA-HJ-7597-01.png
exon_skip_121160_STAD_TCGA-HJ-7597-01.png
exon_skip_309972_STAD_TCGA-HJ-7597-01.png
exon_skip_310292_STAD_TCGA-HJ-7597-01.png
exon_skip_431160_STAD_TCGA-HJ-7597-01.png
exon_skip_84502_STAD_TCGA-HJ-7597-01.png
exon_skip_99856_STAD_TCGA-HJ-7597-01.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	41961026	41962156	41961243	41961244	Frame_Shift_Del	GC	-	p.A51fs
KMRC3_KIDNEY	41961026	41962156	41961346	41961346	Frame_Shift_Del	G	-	p.W85fs
KMH2_THYROID	42005349	42005694	42005547	42005547	Frame_Shift_Del	A	-	p.K1095fs
IGROV1_OVARY	42021362	42021547	42021442	42021442	Frame_Shift_Del	A	-	p.R1246fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42021362	42021547	42021442	42021442	Frame_Shift_Del	A	-	p.R1246fs
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42021362	42021547	42021442	42021442	Frame_Shift_Del	A	-	p.R1246fs
HEC108_ENDOMETRIUM	42026720	42026792	42026746	42026746	Frame_Shift_Del	A	-	p.L1290fs
2313287_STOMACH	42053937	42054048	42054008	42054008	Frame_Shift_Del	A	-	p.R2490fs
C2BBE1_LARGE_INTESTINE	42054327	42054560	42054485	42054501	Frame_Shift_Del	GATCTTGGACAGATGTT	-	p.DLGQMF2557fs
CACO2_LARGE_INTESTINE	42054327	42054560	42054485	42054501	Frame_Shift_Del	GATCTTGGACAGATGTT	-	p.DLGQMF2557fs
RH36_SOFT_TISSUE	42054327	42054560	42054529	42054547	Frame_Shift_Del	GATTCTTTCCAGAAAAAAA	-	p.LILSRKK2571fs
HEC6_ENDOMETRIUM	41961026	41962156	41961546	41961547	Frame_Shift_Ins	-	TT	p.V152fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42032251	42032401	42032387	42032388	Frame_Shift_Ins	-	A	p.AK1524fs
BICR18_UPPER_AERODIGESTIVE_TRACT	42032251	42032401	42032329	42032331	In_Frame_Del	TCC	-	p.S1507del
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42032251	42032401	42032329	42032331	In_Frame_Del	TCC	-	p.S1507del
DV90_LUNG	42052521	42052727	42052625	42052627	In_Frame_Del	GCG	-	p.R2436del
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41961026	41962156	41961201	41961201	Missense_Mutation	G	A	p.D37N
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41961026	41962156	41961390	41961390	Missense_Mutation	C	G	p.Q100E
IM95_STOMACH	41961026	41962156	41961400	41961400	Missense_Mutation	G	A	p.R103H
ZR7530_BREAST	41961026	41962156	41961433	41961433	Missense_Mutation	G	T	p.G114V
SHP77_LUNG	41961026	41962156	41961438	41961438	Missense_Mutation	G	T	p.D116Y
SNU1040_LARGE_INTESTINE	41961026	41962156	41961493	41961493	Missense_Mutation	G	A	p.R134H
CW2_LARGE_INTESTINE	41961026	41962156	41961648	41961648	Missense_Mutation	C	A	p.L186M
LS513_LARGE_INTESTINE	41961026	41962156	41961919	41961919	Missense_Mutation	G	T	p.S276I
HCC1588_LUNG	41961026	41962156	41961919	41961919	Missense_Mutation	G	T	p.S276I
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41961026	41962156	41961963	41961963	Missense_Mutation	C	T	p.R291W
RL952_ENDOMETRIUM	41961026	41962156	41961970	41961970	Missense_Mutation	G	A	p.R293H
KNS42_CENTRAL_NERVOUS_SYSTEM	41961026	41962156	41962003	41962003	Missense_Mutation	C	T	p.P304L
KYM1_SOFT_TISSUE	41961026	41962156	41962114	41962114	Missense_Mutation	C	T	p.A341V
EN_ENDOMETRIUM	42000302	42000406	42000352	42000352	Missense_Mutation	A	G	p.K791E
SEKI_SKIN	42000302	42000406	42000378	42000378	Missense_Mutation	T	A	p.F799L
BICR18_UPPER_AERODIGESTIVE_TRACT	42000302	42000406	42000383	42000383	Missense_Mutation	G	A	p.S801N
RPMI6666_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42005349	42005694	42005464	42005464	Missense_Mutation	A	G	p.Q1067R
M00921_SKIN	42005349	42005694	42005518	42005518	Missense_Mutation	G	A	p.R1085K
SNU81_LARGE_INTESTINE	42005349	42005694	42005666	42005666	Missense_Mutation	G	T	p.E1134D
KATOIII_STOMACH	42021362	42021547	42021438	42021438	Missense_Mutation	A	G	p.E1245G
OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42021362	42021547	42021480	42021480	Missense_Mutation	C	T	p.S1259F
D425_CENTRAL_NERVOUS_SYSTEM	42026720	42026792	42026789	42026789	Missense_Mutation	C	G	p.Q1305E
D458_CENTRAL_NERVOUS_SYSTEM	42026720	42026792	42026789	42026789	Missense_Mutation	C	G	p.Q1305E
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42032251	42032401	42032291	42032291	Missense_Mutation	G	A	p.R1492H
BICR18_UPPER_AERODIGESTIVE_TRACT	42032251	42032401	42032341	42032341	Missense_Mutation	A	C	p.T1509P
RL952_ENDOMETRIUM	42032251	42032401	42032354	42032354	Missense_Mutation	G	A	p.R1513H
BICR18_UPPER_AERODIGESTIVE_TRACT	42032251	42032401	42032356	42032356	Missense_Mutation	C	T	p.P1514S
PCI30_UPPER_AERODIGESTIVE_TRACT	42032251	42032401	42032375	42032375	Missense_Mutation	C	T	p.A1520V
SNU61_LARGE_INTESTINE	42034744	42035370	42034817	42034817	Missense_Mutation	A	G	p.I1553M
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42034744	42035370	42034822	42034822	Missense_Mutation	G	A	p.G1555E
SNU1040_LARGE_INTESTINE	42034744	42035370	42034831	42034831	Missense_Mutation	C	T	p.T1558I
BICR18_UPPER_AERODIGESTIVE_TRACT	42034744	42035370	42034915	42034915	Missense_Mutation	C	A	p.P1586Q
LIM1215_LARGE_INTESTINE	42034744	42035370	42034983	42034983	Missense_Mutation	A	G	p.T1609A
8505C_THYROID	42034744	42035370	42035044	42035044	Missense_Mutation	C	G	p.S1629C
SW48_LARGE_INTESTINE	42034744	42035370	42035073	42035073	Missense_Mutation	G	A	p.E1639K
NCIH2170_LUNG	42034744	42035370	42035082	42035082	Missense_Mutation	G	A	p.E1642K
NB14_AUTONOMIC_GANGLIA	42034744	42035370	42035287	42035287	Missense_Mutation	T	A	p.V1710E
NCIH748_LUNG	42034744	42035370	42035290	42035290	Missense_Mutation	C	T	p.T1711I
HT115_LARGE_INTESTINE	42049986	42050037	42050033	42050033	Missense_Mutation	G	A	p.R2396Q
SNU81_LARGE_INTESTINE	42049986	42050037	42050033	42050033	Missense_Mutation	G	A	p.R2396Q
NB5_AUTONOMIC_GANGLIA	42052521	42052727	42052629	42052629	Missense_Mutation	C	T	p.R2434W
HS852T_SKIN	42052521	42052727	42052632	42052632	Missense_Mutation	C	T	p.R2435W
SNUC2A_LARGE_INTESTINE	42052521	42052727	42052632	42052632	Missense_Mutation	C	T	p.R2435W
HCC2998_LARGE_INTESTINE	42052521	42052727	42052632	42052632	Missense_Mutation	C	T	p.R2435W
SNUC2B_LARGE_INTESTINE	42052521	42052727	42052632	42052632	Missense_Mutation	C	T	p.R2435W
SNU1040_LARGE_INTESTINE	42053937	42054048	42053943	42053943	Missense_Mutation	A	G	p.S2469G
SNUC2A_LARGE_INTESTINE	42053937	42054048	42053971	42053971	Missense_Mutation	C	T	p.A2478V
HS729_SOFT_TISSUE	42053937	42054048	42053982	42053982	Missense_Mutation	A	G	p.I2482V
HEC251_ENDOMETRIUM	42053937	42054048	42054012	42054012	Missense_Mutation	C	T	p.R2492W
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42053937	42054048	42054027	42054027	Missense_Mutation	C	G	p.R2497G
MEWO_SKIN	42054327	42054560	42054441	42054441	Missense_Mutation	C	T	p.P2542L
HT115_LARGE_INTESTINE	42054327	42054560	42054533	42054533	Missense_Mutation	C	A	p.L2573I
HEC251_ENDOMETRIUM	41961026	41962156	41961363	41961363	Nonsense_Mutation	C	T	p.R91*
NCIH1155_LUNG	41961026	41962156	41961741	41961741	Nonsense_Mutation	C	T	p.Q217*
CORL279_LUNG	42005349	42005694	42005421	42005421	Nonsense_Mutation	C	T	p.R1053*
LXF289_LUNG	42005349	42005694	42005463	42005463	Nonsense_Mutation	C	T	p.Q1067*
HEC6_ENDOMETRIUM	42005349	42005694	42005477	42005477	Nonsense_Mutation	C	A	p.C1071*
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42034744	42035370	42034854	42034854	Nonsense_Mutation	C	T	p.Q1566*
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42049986	42050037	42050036	42050036	Splice_Site	A	G	p.K2397R
A498_KIDNEY	42052521	42052727	42052726	42052730	Splice_Site	GAGTA	-	p.R2466fs
BICR18_UPPER_AERODIGESTIVE_TRACT	42054327	42054560	42054328	42054328	Splice_Site	T	G	p.G2504G

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

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 MGA

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

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RelatedDrugs for MGA

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 MGA

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MGA	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
MGA	C0023485	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	1	CTD_human
MGA	C0079772	T-Cell Lymphoma	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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Gene summary for MGA

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

Gene isoform structures and expression levels for MGA

Exon skipping events with PSIs in TCGA for MGA

Exon skipping events with PSIs in GTEx for MGA

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

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

SNVs in the skipped exons for MGA

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

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

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

RelatedDrugs for MGA

RelatedDiseases for MGA