ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for NQO2

Gene summary

Gene information	Gene symbol	NQO2
	Gene ID	4835
	Gene name	N-ribosyldihydronicotinamide:quinone reductase 2
	Synonyms	DHQV\|DIA6\|NMOR2\|QR2
	Cytomap	6p25.2
	Type of gene	protein-coding
	Description	ribosyldihydronicotinamide dehydrogenase [quinone]NAD(P)H dehydrogenase, quinone 2NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2NAD(P)H quinone dehydrogenase 2NRH:quinone oxidoreductase 2quinone reductase 2ribosyldihydronicotinamide dehydrog
	Modification date	20200313
	UniProtAcc	A0A024QZT9, A2A2U4, P16083, Q5TD05, Q5TD07, U3KQG7,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
NQO2	GO:0055114	oxidation-reduction process	18254726

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Gene structures and expression levels for NQO2

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000124588

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

ENST

Transcript info.

Base mean exp.

log2FC(AD/control)

P-value

Adjc. p-value

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NQO2

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_107509	chr6	3003669:3003789:3004495:3004651:3006468:3006555	3004495:3004651
exon_skip_115977	chr6	3012544:3012674:3016884:3016985:3019479:3019677	3016884:3016985
exon_skip_129391	chr6	3012544:3012674:3015530:3015643:3016884:3016985	3015530:3015643
exon_skip_134047	chr6	2999974:3000085:3002050:3002286:3003669:3003789	3002050:3002286
exon_skip_134363	chr6	3002050:3002286:3003669:3003789:3004495:3004651	3003669:3003789
exon_skip_140662	chr6	3000002:3000085:3004495:3004651:3006468:3006559	3004495:3004651
exon_skip_143657	chr6	3012564:3012674:3016884:3016985:3019479:3019677	3016884:3016985
exon_skip_145321	chr6	3000002:3000085:3003669:3003789:3006468:3006555	3003669:3003789
exon_skip_170105	chr6	3006468:3006559:3006816:3006935:3010025:3010189	3006816:3006935
exon_skip_184495	chr6	2999876:3000085:3003669:3003789:3006468:3006559	3003669:3003789
exon_skip_236537	chr6	2999989:3000085:3004495:3004651:3006468:3006559	3004495:3004651
exon_skip_239977	chr6	3012564:3012674:3015530:3015643:3016884:3016985	3015530:3015643
exon_skip_269755	chr6	2999876:3000085:3002050:3002286:3003669:3003789	3002050:3002286
exon_skip_276694	chr6	3015530:3015643:3016884:3016985:3019479:3019755	3016884:3016985
exon_skip_283694	chr6	3000002:3000085:3002050:3002286:3003669:3003789	3002050:3002286
exon_skip_54208	chr6	3006468:3006559:3010025:3010189:3012544:3012561	3010025:3010189
exon_skip_55502	chr6	3000002:3000085:3003669:3003789:3006468:3006559	3003669:3003789
exon_skip_59133	chr6	3000002:3000085:3004495:3004651:3006468:3006555	3004495:3004651
exon_skip_59629	chr6	3003669:3003789:3004495:3004651:3006468:3006559	3004495:3004651
exon_skip_64921	chr6	3012544:3012674:3016884:3016985:3019479:3019755	3016884:3016985

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information	Tissue type	Avg(PSIs) in AD	Avg(PSIs) in control	Difference (PSI)	Adj. p-value
exon_skip_6638	Mayo_TC	8.165079e-01	9.203571e-01	-1.038492e-01	7.599984e-03

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Open reading frame (ORF) annotation in the exon skipping event for NQO2

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000338130	3002050	3002286	5UTR-5UTR
ENST00000338130	3004495	3004651	5UTR-5UTR
ENST00000338130	3010025	3010189	In-frame
ENST00000380430	3010025	3010189	In-frame
ENST00000380455	3010025	3010189	In-frame
ENST00000338130	3015530	3015643	In-frame
ENST00000380430	3015530	3015643	In-frame
ENST00000380455	3015530	3015643	In-frame
ENST00000338130	3016884	3016985	In-frame
ENST00000380430	3016884	3016985	In-frame
ENST00000380455	3016884	3016985	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000338130	3002050	3002286	5UTR-5UTR
ENST00000338130	3004495	3004651	5UTR-5UTR
ENST00000338130	3010025	3010189	In-frame
ENST00000380430	3010025	3010189	In-frame
ENST00000380455	3010025	3010189	In-frame
ENST00000338130	3015530	3015643	In-frame
ENST00000380430	3015530	3015643	In-frame
ENST00000380455	3015530	3015643	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000338130	3002050	3002286	5UTR-5UTR
ENST00000338130	3003669	3003789	5UTR-5UTR
ENST00000338130	3004495	3004651	5UTR-5UTR
ENST00000338130	3010025	3010189	In-frame
ENST00000380430	3010025	3010189	In-frame
ENST00000380455	3010025	3010189	In-frame
ENST00000338130	3015530	3015643	In-frame
ENST00000380430	3015530	3015643	In-frame
ENST00000380455	3015530	3015643	In-frame

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Infer the effects of exon skipping event on protein functional features for NQO2

p-ENSG00000124588_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000338130	1532	231	3010025	3010189	721	884	3	57
ENST00000380430	1115	231	3010025	3010189	304	467	3	57
ENST00000380455	10101	231	3010025	3010189	183	346	3	57
ENST00000338130	1532	231	3015530	3015643	1017	1129	101	139
ENST00000380430	1115	231	3015530	3015643	600	712	101	139
ENST00000380455	10101	231	3015530	3015643	479	591	101	139
ENST00000338130	1532	231	3016884	3016985	1131	1231	139	173
ENST00000380430	1115	231	3016884	3016985	714	814	139	173
ENST00000380455	10101	231	3016884	3016985	593	693	139	173

Loci of skipped exons in MSBB 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
ENST00000338130	1532	231	3010025	3010189	721	884	3	57
ENST00000380430	1115	231	3010025	3010189	304	467	3	57
ENST00000380455	10101	231	3010025	3010189	183	346	3	57
ENST00000338130	1532	231	3015530	3015643	1017	1129	101	139
ENST00000380430	1115	231	3015530	3015643	600	712	101	139
ENST00000380455	10101	231	3015530	3015643	479	591	101	139

Loci of skipped exons in Mayo 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
ENST00000338130	1532	231	3010025	3010189	721	884	3	57
ENST00000380430	1115	231	3010025	3010189	304	467	3	57
ENST00000380455	10101	231	3010025	3010189	183	346	3	57
ENST00000338130	1532	231	3015530	3015643	1017	1129	101	139
ENST00000380430	1115	231	3015530	3015643	600	712	101	139
ENST00000380455	10101	231	3015530	3015643	479	591	101	139

Lost protein functional features of individual exon skipping events in ROSMAP.

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
P16083	3	57	5	10	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	5	10	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	5	10	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	36	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	36	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	36	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	12	12	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	12	12	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	12	12	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	3	57	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	3	57	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	3	57	18	33	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	18	33	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	18	33	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	53	55	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	53	55	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	53	55	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	16	16	Natural variant	ID=VAR_021399;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs28383623
P16083	3	57	16	16	Natural variant	ID=VAR_021399;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs28383623
P16083	3	57	16	16	Natural variant	ID=VAR_021399;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs28383623
P16083	3	57	29	29	Natural variant	ID=VAR_021400;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17136117
P16083	3	57	29	29	Natural variant	ID=VAR_021400;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17136117
P16083	3	57	29	29	Natural variant	ID=VAR_021400;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17136117
P16083	3	57	47	47	Natural variant	ID=VAR_021401;Note=L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:1691923,ECO:0000269\|PubMed:8182056,ECO:0000269\|Re
P16083	3	57	47	47	Natural variant	ID=VAR_021401;Note=L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:1691923,ECO:0000269\|PubMed:8182056,ECO:0000269\|Re
P16083	3	57	47	47	Natural variant	ID=VAR_021401;Note=L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:1691923,ECO:0000269\|PubMed:8182056,ECO:0000269\|Re
P16083	3	57	18	21	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	18	21	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	18	21	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	42	46	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	42	46	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	42	46	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	96	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	96	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	96	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	105	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2N
P16083	101	139	105	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2N
P16083	101	139	105	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2N
P16083	101	139	129	132	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3NHF
P16083	101	139	129	132	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3NHF
P16083	101	139	129	132	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3NHF
P16083	101	139	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	101	139	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	101	139	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	101	139	111	120	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	111	120	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	111	120	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	133	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	133	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	133	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	104	107	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	101	139	104	107	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	101	139	104	107	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	101	139	127	129	Region	Note=Substrate binding
P16083	101	139	127	129	Region	Note=Substrate binding
P16083	101	139	127	129	Region	Note=Substrate binding
P16083	101	139	123	125	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	123	125	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	123	125	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	142	148	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	142	148	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	142	148	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	160	162	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SG0
P16083	139	173	160	162	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SG0
P16083	139	173	160	162	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SG0
P16083	139	173	156	156	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	139	173	156	156	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	139	173	156	156	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	139	173	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	139	173	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	139	173	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	139	173	165	173	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	165	173	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	165	173	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	162	162	Mutagenesis	Note=Loss of activity toward CB1954%2C no effect toward menadione. N->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16129418;Dbxref=PMID:16129418
P16083	139	173	162	162	Mutagenesis	Note=Loss of activity toward CB1954%2C no effect toward menadione. N->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16129418;Dbxref=PMID:16129418
P16083	139	173	162	162	Mutagenesis	Note=Loss of activity toward CB1954%2C no effect toward menadione. N->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16129418;Dbxref=PMID:16129418
P16083	139	173	148	151	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	139	173	148	151	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	139	173	148	151	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	139	173	140	140	Sequence conflict	Note=G->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
P16083	139	173	140	140	Sequence conflict	Note=G->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
P16083	139	173	140	140	Sequence conflict	Note=G->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
P16083	139	173	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	153	156	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	153	156	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	139	173	153	156	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL

Lost protein functional features of individual exon skipping events in MSBB.

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
P16083	3	57	5	10	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	5	10	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	5	10	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	36	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	36	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	36	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	12	12	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	12	12	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	12	12	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	3	57	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	3	57	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	3	57	18	33	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	18	33	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	18	33	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	53	55	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	53	55	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	53	55	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	16	16	Natural variant	ID=VAR_021399;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs28383623
P16083	3	57	16	16	Natural variant	ID=VAR_021399;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs28383623
P16083	3	57	16	16	Natural variant	ID=VAR_021399;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs28383623
P16083	3	57	29	29	Natural variant	ID=VAR_021400;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17136117
P16083	3	57	29	29	Natural variant	ID=VAR_021400;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17136117
P16083	3	57	29	29	Natural variant	ID=VAR_021400;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17136117
P16083	3	57	47	47	Natural variant	ID=VAR_021401;Note=L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:1691923,ECO:0000269\|PubMed:8182056,ECO:0000269\|Re
P16083	3	57	47	47	Natural variant	ID=VAR_021401;Note=L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:1691923,ECO:0000269\|PubMed:8182056,ECO:0000269\|Re
P16083	3	57	47	47	Natural variant	ID=VAR_021401;Note=L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:1691923,ECO:0000269\|PubMed:8182056,ECO:0000269\|Re
P16083	3	57	18	21	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	18	21	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	18	21	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	42	46	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	42	46	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	42	46	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	96	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	96	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	96	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	105	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2N
P16083	101	139	105	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2N
P16083	101	139	105	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2N
P16083	101	139	129	132	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3NHF
P16083	101	139	129	132	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3NHF
P16083	101	139	129	132	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3NHF
P16083	101	139	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	101	139	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	101	139	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	101	139	111	120	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	111	120	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	111	120	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	133	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	133	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	133	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	104	107	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	101	139	104	107	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	101	139	104	107	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	101	139	127	129	Region	Note=Substrate binding
P16083	101	139	127	129	Region	Note=Substrate binding
P16083	101	139	127	129	Region	Note=Substrate binding
P16083	101	139	123	125	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	123	125	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	123	125	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL

Lost protein functional features of individual exon skipping events in Mayo.

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
P16083	3	57	5	10	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	5	10	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	5	10	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	36	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	36	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	36	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	12	12	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	12	12	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	12	12	Binding site	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	3	57	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	3	57	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	3	57	18	33	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	18	33	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	18	33	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	53	55	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	53	55	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	53	55	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	16	16	Natural variant	ID=VAR_021399;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs28383623
P16083	3	57	16	16	Natural variant	ID=VAR_021399;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs28383623
P16083	3	57	16	16	Natural variant	ID=VAR_021399;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs28383623
P16083	3	57	29	29	Natural variant	ID=VAR_021400;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17136117
P16083	3	57	29	29	Natural variant	ID=VAR_021400;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17136117
P16083	3	57	29	29	Natural variant	ID=VAR_021400;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17136117
P16083	3	57	47	47	Natural variant	ID=VAR_021401;Note=L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:1691923,ECO:0000269\|PubMed:8182056,ECO:0000269\|Re
P16083	3	57	47	47	Natural variant	ID=VAR_021401;Note=L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:1691923,ECO:0000269\|PubMed:8182056,ECO:0000269\|Re
P16083	3	57	47	47	Natural variant	ID=VAR_021401;Note=L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:1691923,ECO:0000269\|PubMed:8182056,ECO:0000269\|Re
P16083	3	57	18	21	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	18	21	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	18	21	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	3	57	42	46	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	42	46	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	3	57	42	46	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	96	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	96	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	96	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	105	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2N
P16083	101	139	105	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2N
P16083	101	139	105	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3O2N
P16083	101	139	129	132	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3NHF
P16083	101	139	129	132	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3NHF
P16083	101	139	129	132	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3NHF
P16083	101	139	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	101	139	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	101	139	1	231	Chain	ID=PRO_0000071626;Note=Ribosyldihydronicotinamide dehydrogenase [quinone]
P16083	101	139	111	120	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	111	120	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	111	120	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	133	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	133	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	133	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	104	107	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	101	139	104	107	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	101	139	104	107	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18254726,ECO:0000269\|PubMed:19236722;Dbxref=PMID:18254726,PMID:19236722
P16083	101	139	127	129	Region	Note=Substrate binding
P16083	101	139	127	129	Region	Note=Substrate binding
P16083	101	139	127	129	Region	Note=Substrate binding
P16083	101	139	123	125	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	123	125	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	123	125	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL
P16083	101	139	137	140	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4FGL

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3'-UTR located exon skipping events that lost miRNA binding sites in NQO2

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for NQO2

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for NQO2

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NQO2

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
CB	exon_skip_145321	rs2326106	chr6:2989348	2.587694e-10	2.441861e-07
CB	exon_skip_145321	rs4149360	chr6:3006573	3.042883e-09	2.231237e-06
CB	exon_skip_145321	rs9405188	chr6:2997310	4.672498e-09	3.165785e-06
CB	exon_skip_145321	rs318427	chr6:2945097	1.741376e-07	7.824143e-05
CB	exon_skip_145321	rs9503376	chr6:3047212	2.867396e-07	1.235855e-04
CB	exon_skip_145321	rs9503365	chr6:3033571	1.449826e-06	4.931273e-04
CB	exon_skip_145321	rs927340	chr6:3023484	3.673117e-05	7.582781e-03
CB	exon_skip_239977	rs6920099	chr6:3035379	4.058221e-05	8.260433e-03
CB	exon_skip_283694	rs927340	chr6:3023484	8.476413e-05	1.518529e-02
CB	exon_skip_239977	rs1040861	chr6:3023722	1.177543e-04	1.957380e-02
CB	exon_skip_145321	rs1040860	chr6:2993049	1.258374e-04	2.060400e-02
CB	exon_skip_283694	rs9503376	chr6:3047212	1.634695e-04	2.546125e-02
CB	exon_skip_239977	rs6940634	chr6:3032474	2.489807e-04	3.527895e-02
CB	exon_skip_239977	rs6920375	chr6:3020455	3.028526e-04	4.087521e-02
TC	exon_skip_239977	rs6920099	chr6:3035379	2.147654e-08	1.133450e-05
TC	exon_skip_239977	rs6940634	chr6:3032474	1.508637e-07	6.322773e-05
TC	exon_skip_239977	rs1040861	chr6:3023722	2.087478e-07	8.362236e-05
TC	exon_skip_239977	rs6920375	chr6:3020455	5.226083e-06	1.442008e-03
HCC	exon_skip_129391	rs2756075	chr6:3004299	2.231884e-15	1.649904e-12
HCC	exon_skip_129391	rs6920375	chr6:3020455	1.369138e-07	2.673838e-05
HCC	exon_skip_129391	rs1028612	chr6:3031759	3.325091e-07	5.980047e-05
HCC	exon_skip_129391	rs4323352	chr6:3032336	1.005666e-06	1.638676e-04
HCC	exon_skip_129391	rs12199818	chr6:3033393	1.005666e-06	1.638676e-04
HCC	exon_skip_129391	rs6920099	chr6:3035379	1.726124e-06	2.668775e-04
HCC	exon_skip_129391	rs1555447	chr6:3032231	2.634755e-06	3.914122e-04
HCC	exon_skip_129391	rs6940634	chr6:3032474	2.634755e-06	3.914122e-04
HCC	exon_skip_129391	rs1040860	chr6:2993049	3.145276e-06	4.527821e-04
HCC	exon_skip_129391	rs7760408	chr6:3041323	3.257345e-06	4.671068e-04
HCC	exon_skip_129391	rs6915338	chr6:3035289	2.570735e-05	2.860745e-03
HCC	exon_skip_129391	rs1040861	chr6:3023722	3.797742e-05	3.985742e-03
HCC	exon_skip_129391	rs6930518	chr6:3059346	4.393945e-05	4.510878e-03
HCC	exon_skip_129391	rs3823091	chr6:2957938	8.417244e-05	7.897923e-03
HCC	exon_skip_129391	rs6909551	chr6:2960835	1.055769e-04	9.591399e-03
HCC	exon_skip_129391	rs7761969	chr6:3049748	2.089900e-04	1.681685e-02
HCC	exon_skip_129391	rs3799199	chr6:2957911	3.178792e-04	2.367786e-02
HCC	exon_skip_129391	rs2295768	chr6:2954368	4.682332e-04	3.217656e-02
HCC	exon_skip_129391	rs318448	chr6:2931120	6.061941e-04	3.944123e-02
PCC	exon_skip_129391	rs2756075	chr6:3004299	4.532800e-09	2.844999e-06
PCC	exon_skip_129391	rs1028612	chr6:3031759	3.896512e-06	1.125571e-03
PCC	exon_skip_129391	rs4323352	chr6:3032336	1.157780e-04	1.932124e-02
PCC	exon_skip_129391	rs12199818	chr6:3033393	1.157780e-04	1.932124e-02
PCC	exon_skip_55502	rs9405188	chr6:2997310	1.571827e-04	2.464197e-02
PCC	exon_skip_129391	rs7760408	chr6:3041323	1.940868e-04	2.901445e-02
PCC	exon_skip_129391	rs6930518	chr6:3059346	3.104438e-04	4.207937e-02
PCC	exon_skip_129391	rs6915338	chr6:3035289	3.869727e-04	4.966495e-02
DLPFC	exon_skip_239977	rs2756075	chr6:3004299	4.373187e-20	4.935880e-17
DLPFC	exon_skip_239977	rs6930518	chr6:3059346	2.355545e-08	5.130082e-06
DLPFC	exon_skip_239977	rs1555447	chr6:3032231	6.626809e-08	1.294692e-05
DLPFC	exon_skip_239977	rs4323352	chr6:3032336	1.190477e-07	2.187688e-05
DLPFC	exon_skip_239977	rs12199818	chr6:3033393	1.190477e-07	2.187688e-05
DLPFC	exon_skip_239977	rs6940634	chr6:3032474	1.423536e-07	2.559653e-05
DLPFC	exon_skip_239977	rs1028612	chr6:3031759	1.502842e-07	2.673170e-05
DLPFC	exon_skip_239977	rs1040861	chr6:3023722	1.795294e-07	3.123867e-05
DLPFC	exon_skip_239977	rs7760408	chr6:3041323	5.127456e-07	8.087872e-05
DLPFC	exon_skip_239977	rs6920375	chr6:3020455	1.158929e-06	1.670192e-04
DLPFC	exon_skip_239977	rs6920099	chr6:3035379	3.147605e-06	4.022841e-04
DLPFC	exon_skip_239977	rs6915338	chr6:3035289	3.369505e-06	4.283502e-04
DLPFC	exon_skip_239977	rs4149367	chr6:3015631	5.955412e-06	7.100713e-04
DLPFC	exon_skip_239977	rs4149368	chr6:3015664	5.955412e-06	7.100713e-04
DLPFC	exon_skip_239977	rs7761969	chr6:3049748	4.843139e-05	4.504524e-03
DLPFC	exon_skip_239977	rs9405606	chr6:3067554	3.893917e-04	2.647341e-02

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Correlation with RNA binding proteins (RBPs) for NQO2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RBM4	exon_skip_239977	-4.702910e-01	3.979979e-10

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RelatedDrugs for NQO2

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P16083	approved\|nutraceutical	DB00170	Menadione	small molecule	P16083
P16083	approved\|nutraceutical\|vet_approved	DB01065	Melatonin	small molecule	P16083
P16083	approved	DB01087	Primaquine	small molecule	P16083

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RelatedDiseases for NQO2

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for NQO2

Gene structures and expression levels for NQO2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NQO2

Open reading frame (ORF) annotation in the exon skipping event for NQO2

Infer the effects of exon skipping event on protein functional features for NQO2

3'-UTR located exon skipping events that lost miRNA binding sites in NQO2

SNVs in the skipped exons for NQO2

AD stage-associated exon skippint events for NQO2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NQO2

Correlation with RNA binding proteins (RBPs) for NQO2

RelatedDrugs for NQO2

RelatedDiseases for NQO2