ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NDUFAF6

Gene summary

Gene information	Gene symbol	NDUFAF6
	Gene ID	137682
	Gene name	NADH:ubiquinone oxidoreductase complex assembly factor 6
	Synonyms	C8orf38
	Cytomap	8q22.1
	Type of gene	protein-coding
	Description	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6UPF0551 protein C8orf38, mitochondrialputative phytoene synthase
	Modification date	20180523
	UniProtAcc	Q330K2
	Context	PubMed: NDUFAF6 [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 NDUFAF6 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 NDUFAF6

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 NDUFAF6

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_484864	8	95908064:95908155:95957710:95957847:95970222:95970407	95957710:95957847	ENSG00000156170.8	ENST00000396113.1
exon_skip_484867	8	95970235:95970407:95987545:95987643:95988044:95988207	95987545:95987643	ENSG00000156170.8	ENST00000396113.1
exon_skip_484880	8	95970235:95970407:95993082:95993201:96044222:96044239	95993082:95993201	ENSG00000156170.8	ENST00000523378.1
exon_skip_484883	8	95970235:95970407:95993086:95993201:96044222:96044239	95993086:95993201	ENSG00000156170.8	ENST00000396111.2
exon_skip_484890	8	95987545:95987643:95988044:95988211:95993086:95993201	95988044:95988211	ENSG00000156170.8	ENST00000396113.1
exon_skip_484901	8	95993160:95993201:96035397:96035547:96044222:96044322	96035397:96035547	ENSG00000156170.8	ENST00000396113.1
exon_skip_484903	8	96037295:96037433:96044222:96044322:96047681:96047804	96044222:96044322	ENSG00000156170.8	ENST00000520757.1,ENST00000396124.4,ENST00000286687.4
exon_skip_484905	8	96037295:96037433:96044222:96044326:96047681:96047804	96044222:96044326	ENSG00000156170.8	ENST00000517976.1,ENST00000520632.1,ENST00000454358.2
exon_skip_484908	8	96037295:96037433:96047681:96047804:96053797:96053854	96047681:96047804	ENSG00000156170.8	ENST00000518608.1
exon_skip_484913	8	96044222:96044322:96047681:96047804:96053797:96053854	96047681:96047804	ENSG00000156170.8	ENST00000396124.4,ENST00000542894.1
exon_skip_484915	8	96044222:96044326:96046235:96046350:96047681:96047804	96046235:96046350	ENSG00000156170.8	ENST00000518258.1,ENST00000522683.1,ENST00000519136.1,ENST00000523337.1
exon_skip_484917	8	96044222:96044326:96047681:96047804:96053797:96053854	96047681:96047804	ENSG00000156170.8	ENST00000523378.1,ENST00000396111.2,ENST00000396113.1,ENST00000454358.2
exon_skip_484922	8	96047681:96047804:96048529:96048722:96053797:96053854	96048529:96048722	ENSG00000156170.8	ENST00000517976.1
exon_skip_484925	8	96047681:96047804:96048598:96048722:96053797:96053854	96048598:96048722	ENSG00000156170.8	ENST00000520757.1,ENST00000286687.4,ENST00000520632.1
exon_skip_484927	8	96047681:96047804:96052933:96053155:96053797:96053854	96052933:96053155	ENSG00000156170.8	ENST00000518258.1
exon_skip_484929	8	96047681:96047804:96053797:96053854:96057772:96057875	96053797:96053854	ENSG00000156170.8	ENST00000396124.4,ENST00000523378.1,ENST00000519804.1,ENST00000396111.2,ENST00000519136.1,ENST00000396113.1,ENST00000542894.1,ENST00000454358.2,ENST00000523337.1
exon_skip_484935	8	96053797:96053854:96056704:96056823:96057772:96057875	96056704:96056823	ENSG00000156170.8	ENST00000518608.1,ENST00000520632.1
exon_skip_484937	8	96057772:96057875:96059221:96059355:96060684:96060786	96059221:96059355	ENSG00000156170.8	ENST00000520757.1,ENST00000396124.4,ENST00000518258.1,ENST00000517976.1,ENST00000286687.4,ENST00000396111.2,ENST00000396113.1,ENST00000542894.1,ENST00000454358.2
exon_skip_484939	8	96060693:96060786:96064401:96064458:96070036:96070164	96064401:96064458	ENSG00000156170.8	ENST00000396124.4,ENST00000518258.1,ENST00000517976.1,ENST00000396111.2,ENST00000396113.1,ENST00000542894.1,ENST00000454358.2
exon_skip_484940	8	96060693:96060786:96064401:96064458:96087860:96087980	96064401:96064458	ENSG00000156170.8	ENST00000520757.1,ENST00000286687.4
exon_skip_484946	8	96087860:96087980:96113359:96113454:96115203:96115239	96113359:96113454	ENSG00000156170.8	ENST00000523184.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NDUFAF6

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_484864	8	95908064:95908155:95957710:95957847:95970222:95970407	95957710:95957847	ENSG00000156170.8	ENST00000396113.1
exon_skip_484867	8	95970235:95970407:95987545:95987643:95988044:95988207	95987545:95987643	ENSG00000156170.8	ENST00000396113.1
exon_skip_484880	8	95970235:95970407:95993082:95993201:96044222:96044239	95993082:95993201	ENSG00000156170.8	ENST00000523378.1
exon_skip_484883	8	95970235:95970407:95993086:95993201:96044222:96044239	95993086:95993201	ENSG00000156170.8	ENST00000396111.2
exon_skip_484890	8	95987545:95987643:95988044:95988211:95993086:95993201	95988044:95988211	ENSG00000156170.8	ENST00000396113.1
exon_skip_484901	8	95993160:95993201:96035397:96035547:96044222:96044322	96035397:96035547	ENSG00000156170.8	ENST00000396113.1
exon_skip_484903	8	96037295:96037433:96044222:96044322:96047681:96047804	96044222:96044322	ENSG00000156170.8	ENST00000396124.4,ENST00000520757.1,ENST00000286687.4
exon_skip_484905	8	96037295:96037433:96044222:96044326:96047681:96047804	96044222:96044326	ENSG00000156170.8	ENST00000517976.1,ENST00000520632.1,ENST00000454358.2
exon_skip_484908	8	96037295:96037433:96047681:96047804:96053797:96053854	96047681:96047804	ENSG00000156170.8	ENST00000518608.1
exon_skip_484913	8	96044222:96044322:96047681:96047804:96053797:96053854	96047681:96047804	ENSG00000156170.8	ENST00000542894.1,ENST00000396124.4
exon_skip_484915	8	96044222:96044326:96046235:96046350:96047681:96047804	96046235:96046350	ENSG00000156170.8	ENST00000519136.1,ENST00000518258.1,ENST00000523337.1,ENST00000522683.1
exon_skip_484917	8	96044222:96044326:96047681:96047804:96053797:96053854	96047681:96047804	ENSG00000156170.8	ENST00000523378.1,ENST00000396113.1,ENST00000396111.2,ENST00000454358.2
exon_skip_484922	8	96047681:96047804:96048529:96048722:96053797:96053854	96048529:96048722	ENSG00000156170.8	ENST00000517976.1
exon_skip_484925	8	96047681:96047804:96048598:96048722:96053797:96053854	96048598:96048722	ENSG00000156170.8	ENST00000520632.1,ENST00000520757.1,ENST00000286687.4
exon_skip_484927	8	96047681:96047804:96052933:96053155:96053797:96053854	96052933:96053155	ENSG00000156170.8	ENST00000518258.1
exon_skip_484929	8	96047681:96047804:96053797:96053854:96057772:96057875	96053797:96053854	ENSG00000156170.8	ENST00000523378.1,ENST00000396113.1,ENST00000519136.1,ENST00000396111.2,ENST00000542894.1,ENST00000396124.4,ENST00000523337.1,ENST00000454358.2,ENST00000519804.1
exon_skip_484935	8	96053797:96053854:96056704:96056823:96057772:96057875	96056704:96056823	ENSG00000156170.8	ENST00000520632.1,ENST00000518608.1
exon_skip_484937	8	96057772:96057875:96059221:96059355:96060684:96060786	96059221:96059355	ENSG00000156170.8	ENST00000396113.1,ENST00000396111.2,ENST00000542894.1,ENST00000396124.4,ENST00000518258.1,ENST00000517976.1,ENST00000454358.2,ENST00000520757.1,ENST00000286687.4
exon_skip_484939	8	96060693:96060786:96064401:96064458:96070036:96070164	96064401:96064458	ENSG00000156170.8	ENST00000396113.1,ENST00000396111.2,ENST00000542894.1,ENST00000396124.4,ENST00000518258.1,ENST00000517976.1,ENST00000454358.2
exon_skip_484940	8	96060693:96060786:96064401:96064458:96087860:96087980	96064401:96064458	ENSG00000156170.8	ENST00000520757.1,ENST00000286687.4
exon_skip_484944	8	96060693:96060786:96087860:96087980:96113359:96113454	96087860:96087980	ENSG00000156170.8	ENST00000523184.1
exon_skip_484946	8	96087860:96087980:96113359:96113454:96115203:96115239	96113359:96113454	ENSG00000156170.8	ENST00000523184.1

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 NDUFAF6

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
ENST00000396124	96044222	96044322	Frame-shift
ENST00000396124	96059221	96059355	Frame-shift
ENST00000396124	96047681	96047804	In-frame
ENST00000396124	96053797	96053854	In-frame
ENST00000396124	96064401	96064458	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
ENST00000396124	96044222	96044322	Frame-shift
ENST00000396124	96059221	96059355	Frame-shift
ENST00000396124	96047681	96047804	In-frame
ENST00000396124	96053797	96053854	In-frame
ENST00000396124	96064401	96064458	In-frame

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Infer the effects of exon skipping event on protein functional features for NDUFAF6

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
ENST00000396124	1815	333	96047681	96047804	321	443	99	140
ENST00000396124	1815	333	96053797	96053854	444	500	140	159
ENST00000396124	1815	333	96064401	96064458	840	896	272	291

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
ENST00000396124	1815	333	96047681	96047804	321	443	99	140
ENST00000396124	1815	333	96053797	96053854	444	500	140	159
ENST00000396124	1815	333	96064401	96064458	840	896	272	291

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
Q330K2	99	140	100	120	Alternative sequence	ID=VSP_026231;Note=In isoform 3. VKDSVSEKTIGLMRMQFWKKT->AGLLLLLSCCTVCHWDLNTKHC;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q330K2	99	140	121	333	Alternative sequence	ID=VSP_026232;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q330K2	99	140	45	333	Chain	ID=PRO_0000291772;Note=NADH dehydrogenase (ubiquinone) complex I%2C assembly factor 6
Q330K2	99	140	99	99	Natural variant	ID=VAR_047770;Note=In MT-C1D. Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18614015,ECO:0000269\|PubMed:22019594;Dbxref=dbSNP:rs137853184,PMID:18614015,PMID:22019594
Q330K2	99	140	124	124	Natural variant	ID=VAR_076274;Note=In MT-C1D. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26741492;Dbxref=dbSNP:rs201732170,PMID:26741492
Q330K2	140	159	121	333	Alternative sequence	ID=VSP_026232;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q330K2	140	159	45	333	Chain	ID=PRO_0000291772;Note=NADH dehydrogenase (ubiquinone) complex I%2C assembly factor 6
Q330K2	272	291	121	333	Alternative sequence	ID=VSP_026232;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q330K2	272	291	45	333	Chain	ID=PRO_0000291772;Note=NADH dehydrogenase (ubiquinone) complex I%2C assembly factor 6
Q330K2	272	291	274	274	Natural variant	ID=VAR_076276;Note=In MT-C1D. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26741492;Dbxref=dbSNP:rs1057519086,PMID:26741492

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
Q330K2	99	140	100	120	Alternative sequence	ID=VSP_026231;Note=In isoform 3. VKDSVSEKTIGLMRMQFWKKT->AGLLLLLSCCTVCHWDLNTKHC;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q330K2	99	140	121	333	Alternative sequence	ID=VSP_026232;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q330K2	99	140	45	333	Chain	ID=PRO_0000291772;Note=NADH dehydrogenase (ubiquinone) complex I%2C assembly factor 6
Q330K2	99	140	99	99	Natural variant	ID=VAR_047770;Note=In MT-C1D. Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18614015,ECO:0000269\|PubMed:22019594;Dbxref=dbSNP:rs137853184,PMID:18614015,PMID:22019594
Q330K2	99	140	124	124	Natural variant	ID=VAR_076274;Note=In MT-C1D. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26741492;Dbxref=dbSNP:rs201732170,PMID:26741492
Q330K2	140	159	121	333	Alternative sequence	ID=VSP_026232;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q330K2	140	159	45	333	Chain	ID=PRO_0000291772;Note=NADH dehydrogenase (ubiquinone) complex I%2C assembly factor 6
Q330K2	272	291	121	333	Alternative sequence	ID=VSP_026232;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q330K2	272	291	45	333	Chain	ID=PRO_0000291772;Note=NADH dehydrogenase (ubiquinone) complex I%2C assembly factor 6
Q330K2	272	291	274	274	Natural variant	ID=VAR_076276;Note=In MT-C1D. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26741492;Dbxref=dbSNP:rs1057519086,PMID:26741492

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SNVs in the skipped exons for NDUFAF6

- 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-DD-A1EG-01	exon_skip_484903	96044223	96044322	96044239	96044239	Frame_Shift_Del	G	-	p.G72fs
LIHC	TCGA-DD-A1EG-01	exon_skip_484905	96044223	96044326	96044239	96044239	Frame_Shift_Del	G	-	p.G72fs
LIHC	TCGA-DD-A1EG-01	exon_skip_484917 exon_skip_484913 exon_skip_484908	96047682	96047804	96047685	96047685	Frame_Shift_Del	A	-	p.K9fs
ESCA	TCGA-L5-A893-01	exon_skip_484917 exon_skip_484913 exon_skip_484908	96047682	96047804	96047735	96047736	Frame_Shift_Ins	-	A	p.*K25fs
ESCA	TCGA-L5-A893-01	exon_skip_484917 exon_skip_484913 exon_skip_484908	96047682	96047804	96047735	96047736	Frame_Shift_Ins	-	A	p.T119fs
ESCA	TCGA-L5-A893-01	exon_skip_484917 exon_skip_484913 exon_skip_484908	96047682	96047804	96047735	96047736	Frame_Shift_Ins	-	A	p.W117fs
STAD	TCGA-SW-A7EA-01	exon_skip_484917 exon_skip_484913 exon_skip_484908	96047682	96047804	96047735	96047736	Frame_Shift_Ins	-	A	p.*K25fs
STAD	TCGA-SW-A7EA-01	exon_skip_484917 exon_skip_484913 exon_skip_484908	96047682	96047804	96047735	96047736	Frame_Shift_Ins	-	A	p.W117fs
STAD	TCGA-BR-8078-01	exon_skip_484903	96044223	96044322	96044275	96044275	Nonsense_Mutation	C	T	p.R84X
STAD	TCGA-BR-8078-01	exon_skip_484905	96044223	96044326	96044275	96044275	Nonsense_Mutation	C	T	p.R84X
THCA	TCGA-EL-A4KG-01	exon_skip_484903	96044223	96044322	96044311	96044311	Nonsense_Mutation	G	A	p.W2*
THCA	TCGA-EL-A4KG-01	exon_skip_484905	96044223	96044326	96044311	96044311	Nonsense_Mutation	G	A	p.W2*
PRAD	TCGA-XK-AAIW-01	exon_skip_484917 exon_skip_484913 exon_skip_484908	96047682	96047804	96047721	96047721	Nonsense_Mutation	C	T	p.R21*
STAD	TCGA-HU-A4GX-01	exon_skip_484917 exon_skip_484913 exon_skip_484908	96047682	96047804	96047721	96047721	Nonsense_Mutation	C	T	p.R113X
UVM	TCGA-V4-A9F8-01	exon_skip_484939 exon_skip_484940	96064402	96064458	96064453	96064453	Nonsense_Mutation	C	T	p.Q198*
UVM	TCGA-V4-A9F8-01	exon_skip_484939 exon_skip_484940	96064402	96064458	96064453	96064453	Nonsense_Mutation	C	T	p.Q290X
CHOL	TCGA-W5-AA2R-01	exon_skip_484917 exon_skip_484913 exon_skip_484908	96047682	96047804	96047805	96047805	Splice_Site	G	T	.
THYM	TCGA-5U-AB0D-01	exon_skip_484917 exon_skip_484913 exon_skip_484908	96047682	96047804	96047805	96047805	Splice_Site	G	T	.
SARC	TCGA-IF-A4AK-01	exon_skip_484917 exon_skip_484913 exon_skip_484908	96047682	96047804	96047806	96047807	Splice_Site	-	AA	e3+2
UCEC	TCGA-BG-A0M0-01	exon_skip_484937	96059222	96059355	96059356	96059356	Splice_Site	G	A	p.L238_splice

- 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
SNUC2A_LARGE_INTESTINE	96044223	96044322	96044228	96044228	Missense_Mutation	G	A	p.R68Q
SNUC2A_LARGE_INTESTINE	96044223	96044326	96044228	96044228	Missense_Mutation	G	A	p.R68Q
SNUC2B_LARGE_INTESTINE	96044223	96044322	96044228	96044228	Missense_Mutation	G	A	p.R68Q
SNUC2B_LARGE_INTESTINE	96044223	96044326	96044228	96044228	Missense_Mutation	G	A	p.R68Q
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	96044223	96044322	96044255	96044255	Missense_Mutation	T	C	p.L77P
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	96044223	96044326	96044255	96044255	Missense_Mutation	T	C	p.L77P
JHUEM1_ENDOMETRIUM	96044223	96044322	96044276	96044276	Missense_Mutation	G	A	p.R84Q
JHUEM1_ENDOMETRIUM	96044223	96044326	96044276	96044276	Missense_Mutation	G	A	p.R84Q
RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	96047682	96047804	96047724	96047724	Missense_Mutation	A	G	p.M114V
KPMRTRY_SOFT_TISSUE	96047682	96047804	96047772	96047772	Missense_Mutation	C	T	p.P130S
CAL12T_LUNG	96053798	96053854	96053804	96053804	Missense_Mutation	A	G	p.K143E
SNU1040_LARGE_INTESTINE	96059222	96059355	96059249	96059249	Missense_Mutation	C	A	p.A203D
ZR7530_BREAST	96059222	96059355	96059292	96059292	Missense_Mutation	G	C	p.L217F
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	96064402	96064458	96064434	96064434	Missense_Mutation	A	C	p.K283N
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	96064402	96064458	96064434	96064434	Missense_Mutation	A	C	p.K283N
NCIH292_LUNG	96047682	96047804	96047803	96047804	Splice_Site	-	G	p.A141fs
NCIH716_LARGE_INTESTINE	96047682	96047804	96047803	96047804	Splice_Site	-	G	p.A141fs

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NDUFAF6

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_484867	8	95970235:95970407:95987545:95987643:95988044:95988207	95987545:95987643	ENST00000396113.1	HNSC	rs13250762	chr8:95987570	A/G	2.98e-03
exon_skip_484867	8	95970235:95970407:95987545:95987643:95988044:95988207	95987545:95987643	ENST00000396113.1	BRCA	rs3802191	chr8:95987584	C/T	1.57e-04
exon_skip_484867	8	95970235:95970407:95987545:95987643:95988044:95988207	95987545:95987643	ENST00000396113.1	BRCA	rs13250762	chr8:95987570	A/G	2.75e-04
exon_skip_484867	8	95970235:95970407:95987545:95987643:95988044:95988207	95987545:95987643	ENST00000396113.1	TGCT	rs3802191	chr8:95987584	C/T	5.82e-05
exon_skip_484867	8	95970235:95970407:95987545:95987643:95988044:95988207	95987545:95987643	ENST00000396113.1	TGCT	rs13250762	chr8:95987570	A/G	2.28e-04
exon_skip_484867	8	95970235:95970407:95987545:95987643:95988044:95988207	95987545:95987643	ENST00000396113.1	THCA	rs13250762	chr8:95987570	A/G	2.74e-04
exon_skip_484867	8	95970235:95970407:95987545:95987643:95988044:95988207	95987545:95987643	ENST00000396113.1	THCA	rs3802191	chr8:95987584	C/T	2.09e-03
exon_skip_484935	8	96053797:96053854:96056704:96056823:96057772:96057875	96056704:96056823	ENST00000518608.1,ENST00000520632.1	LGG	rs2599713	chr8:96056805	C/T	4.75e-04
exon_skip_484935	8	96053797:96053854:96056704:96056823:96057772:96057875	96056704:96056823	ENST00000518608.1,ENST00000520632.1	STAD	rs2599713	chr8:96056805	C/T	5.56e-04
exon_skip_484935	8	96053797:96053854:96056704:96056823:96057772:96057875	96056704:96056823	ENST00000518608.1,ENST00000520632.1	THCA	rs2599713	chr8:96056805	C/T	3.45e-03
exon_skip_484901	8	95993160:95993201:96035397:96035547:96044222:96044322	96035397:96035547	ENST00000396113.1	BLCA	rs73276437	chr8:96035511	A/G	1.17e-04
exon_skip_484901	8	95993160:95993201:96035397:96035547:96044222:96044322	96035397:96035547	ENST00000396113.1	KIRC	rs73276437	chr8:96035511	A/G	2.79e-03
exon_skip_484901	8	95993160:95993201:96035397:96035547:96044222:96044322	96035397:96035547	ENST00000396113.1	LUAD	rs73276437	chr8:96035511	A/G	3.15e-05
exon_skip_484901	8	95993160:95993201:96035397:96035547:96044222:96044322	96035397:96035547	ENST00000396113.1	LUAD	rs73276437	chr8:96035511	A/G	1.61e-03
exon_skip_484901	8	95993160:95993201:96035397:96035547:96044222:96044322	96035397:96035547	ENST00000396113.1	LUAD	rs73276437	chr8:96035511	A/G	1.61e-03
exon_skip_484901	8	95993160:95993201:96035397:96035547:96044222:96044322	96035397:96035547	ENST00000396113.1	PRAD	rs73276437	chr8:96035511	A/G	2.46e-04
exon_skip_484901	8	95993160:95993201:96035397:96035547:96044222:96044322	96035397:96035547	ENST00000396113.1	STAD	rs73276437	chr8:96035511	A/G	2.01e-03
exon_skip_484901	8	95993160:95993201:96035397:96035547:96044222:96044322	96035397:96035547	ENST00000396113.1	THCA	rs73276437	chr8:96035511	A/G	6.61e-06
exon_skip_484901	8	95993160:95993201:96035397:96035547:96044222:96044322	96035397:96035547	ENST00000396113.1	THCA	rs73276437	chr8:96035511	A/G	1.00e-03
exon_skip_484890	8	95987545:95987643:95988044:95988211:95993086:95993201	95988044:95988211	ENST00000396113.1	LGG	rs6983948	chr8:95988209	C/T	6.07e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NDUFAF6

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NDUFAF6

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RelatedDrugs for NDUFAF6

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 NDUFAF6

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
NDUFAF6	C1838979	MITOCHONDRIAL COMPLEX I DEFICIENCY	2	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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