ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NADK

Gene summary

Gene information	Gene symbol	NADK
	Gene ID	65220
	Gene name	NAD kinase
	Synonyms	dJ283E3.1
	Cytomap	1p36.33
	Type of gene	protein-coding
	Description	NAD kinasepoly(P)/ATP NAD kinase
	Modification date	20180522
	UniProtAcc	O95544
	Context	PubMed: NADK [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 NADK 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 NADK

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 NADK

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_20568	1	1684413:1684499:1685005:1685088:1685489:1685619	1685005:1685088	ENSG00000008130.11	ENST00000378625.1,ENST00000342348.5,ENST00000344463.4,ENST00000341426.5,ENST00000341991.3
exon_skip_20569	1	1684413:1684499:1685005:1685088:1685722:1685822	1685005:1685088	ENSG00000008130.11	ENST00000498806.1
exon_skip_20583	1	1685005:1685088:1685489:1685647:1685722:1685822	1685489:1685647	ENSG00000008130.11	ENST00000378625.1,ENST00000342348.5,ENST00000344463.4,ENST00000341426.5,ENST00000341991.3
exon_skip_20587	1	1686110:1686137:1686812:1686915:1687696:1687766	1686812:1686915	ENSG00000008130.11	ENST00000378625.1,ENST00000342348.5,ENST00000497186.1,ENST00000344463.4,ENST00000400922.2,ENST00000477235.1,ENST00000341426.5,ENST00000341991.3,ENST00000469045.1,ENST00000480499.1
exon_skip_20589	1	1686110:1686137:1687696:1687782:1687941:1688047	1687696:1687782	ENSG00000008130.11	ENST00000489538.1
exon_skip_20590	1	1686812:1686915:1687696:1687782:1687941:1688047	1687696:1687782	ENSG00000008130.11	ENST00000378625.1,ENST00000342348.5,ENST00000497186.1,ENST00000344463.4,ENST00000400922.2,ENST00000477235.1,ENST00000341426.5,ENST00000341991.3,ENST00000469045.1
exon_skip_20592	1	1687696:1687782:1687941:1688047:1688619:1688667	1687941:1688047	ENSG00000008130.11	ENST00000342348.5,ENST00000492845.2,ENST00000400922.2,ENST00000341426.5,ENST00000341991.3
exon_skip_20599	1	1687941:1688047:1688177:1688321:1688619:1688667	1688177:1688321	ENSG00000008130.11	ENST00000497186.1
exon_skip_20600	1	1687941:1688047:1688217:1688321:1688619:1688667	1688217:1688321	ENSG00000008130.11	ENST00000469045.1
exon_skip_20601	1	1688545:1688749:1690539:1690682:1691172:1691341	1690539:1690682	ENSG00000008130.11	ENST00000378625.1,ENST00000344463.4
exon_skip_20606	1	1688619:1688749:1693390:1693474:1696666:1696885	1693390:1693474	ENSG00000008130.11	ENST00000492845.2,ENST00000492768.1,ENST00000341426.5,ENST00000460602.1,ENST00000341991.3
exon_skip_20610	1	1693390:1693474:1696666:1696885:1709727:1709858	1696666:1696885	ENSG00000008130.11	ENST00000492768.1,ENST00000344463.4,ENST00000464373.1,ENST00000460602.1
exon_skip_20611	1	1693390:1693474:1696666:1696885:1711343:1711401	1696666:1696885	ENSG00000008130.11	ENST00000378625.1,ENST00000492845.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NADK

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_20568	1	1684413:1684499:1685005:1685088:1685489:1685619	1685005:1685088	ENSG00000008130.11	ENST00000341426.5,ENST00000341991.3,ENST00000378625.1,ENST00000344463.4,ENST00000342348.5
exon_skip_20569	1	1684413:1684499:1685005:1685088:1685722:1685822	1685005:1685088	ENSG00000008130.11	ENST00000498806.1
exon_skip_20583	1	1685005:1685088:1685489:1685647:1685722:1685822	1685489:1685647	ENSG00000008130.11	ENST00000341426.5,ENST00000341991.3,ENST00000378625.1,ENST00000344463.4,ENST00000342348.5
exon_skip_20587	1	1686110:1686137:1686812:1686915:1687696:1687766	1686812:1686915	ENSG00000008130.11	ENST00000341426.5,ENST00000341991.3,ENST00000378625.1,ENST00000344463.4,ENST00000342348.5,ENST00000469045.1,ENST00000480499.1,ENST00000477235.1,ENST00000497186.1,ENST00000400922.2
exon_skip_20589	1	1686110:1686137:1687696:1687782:1687941:1688047	1687696:1687782	ENSG00000008130.11	ENST00000489538.1
exon_skip_20590	1	1686812:1686915:1687696:1687782:1687941:1688047	1687696:1687782	ENSG00000008130.11	ENST00000341426.5,ENST00000341991.3,ENST00000378625.1,ENST00000344463.4,ENST00000342348.5,ENST00000469045.1,ENST00000477235.1,ENST00000497186.1,ENST00000400922.2
exon_skip_20592	1	1687696:1687782:1687941:1688047:1688619:1688667	1687941:1688047	ENSG00000008130.11	ENST00000341426.5,ENST00000341991.3,ENST00000342348.5,ENST00000400922.2,ENST00000492845.2
exon_skip_20599	1	1687941:1688047:1688177:1688321:1688619:1688667	1688177:1688321	ENSG00000008130.11	ENST00000497186.1
exon_skip_20600	1	1687941:1688047:1688217:1688321:1688619:1688667	1688217:1688321	ENSG00000008130.11	ENST00000469045.1
exon_skip_20601	1	1688545:1688749:1690539:1690682:1691172:1691341	1690539:1690682	ENSG00000008130.11	ENST00000378625.1,ENST00000344463.4
exon_skip_20606	1	1688619:1688749:1693390:1693474:1696666:1696885	1693390:1693474	ENSG00000008130.11	ENST00000341426.5,ENST00000341991.3,ENST00000492845.2,ENST00000492768.1,ENST00000460602.1
exon_skip_20610	1	1693390:1693474:1696666:1696885:1709727:1709858	1696666:1696885	ENSG00000008130.11	ENST00000344463.4,ENST00000492768.1,ENST00000460602.1,ENST00000464373.1
exon_skip_20611	1	1693390:1693474:1696666:1696885:1711343:1711401	1696666:1696885	ENSG00000008130.11	ENST00000378625.1,ENST00000492845.2

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 NADK

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
ENST00000341426	1685005	1685088	Frame-shift
ENST00000341991	1685005	1685088	Frame-shift
ENST00000341426	1685489	1685647	Frame-shift
ENST00000341991	1685489	1685647	Frame-shift
ENST00000341426	1686812	1686915	Frame-shift
ENST00000341991	1686812	1686915	Frame-shift
ENST00000341426	1687696	1687782	Frame-shift
ENST00000341991	1687696	1687782	Frame-shift
ENST00000341426	1687941	1688047	Frame-shift
ENST00000341991	1687941	1688047	Frame-shift
ENST00000341426	1693390	1693474	In-frame
ENST00000341991	1693390	1693474	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
ENST00000341426	1685005	1685088	Frame-shift
ENST00000341991	1685005	1685088	Frame-shift
ENST00000341426	1685489	1685647	Frame-shift
ENST00000341991	1685489	1685647	Frame-shift
ENST00000341426	1686812	1686915	Frame-shift
ENST00000341991	1686812	1686915	Frame-shift
ENST00000341426	1687696	1687782	Frame-shift
ENST00000341991	1687696	1687782	Frame-shift
ENST00000341426	1687941	1688047	Frame-shift
ENST00000341991	1687941	1688047	Frame-shift
ENST00000341426	1693390	1693474	In-frame
ENST00000341991	1693390	1693474	In-frame

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

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
ENST00000341426	3252	446	1693390	1693474	402	485	60	87
ENST00000341991	3115	446	1693390	1693474	265	348	60	87

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
ENST00000341426	3252	446	1693390	1693474	402	485	60	87
ENST00000341991	3115	446	1693390	1693474	265	348	60	87

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
O95544	60	87	11	87	Alternative sequence	ID=VSP_047312;Note=In isoform 3. NKELSPDAAAYCCSACHGDETWSYNHPIRGRAKSRSLSASPALGSTKEFRRTRSLHGPCPVTTFGPKACVLQNPQTI->GRPRVRQAWPGCCGHTGRLPAGRGYLASHMCDPAGAELIGDGMSDPTPPSNACT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95544	60	87	11	87	Alternative sequence	ID=VSP_047312;Note=In isoform 3. NKELSPDAAAYCCSACHGDETWSYNHPIRGRAKSRSLSASPALGSTKEFRRTRSLHGPCPVTTFGPKACVLQNPQTI->GRPRVRQAWPGCCGHTGRLPAGRGYLASHMCDPAGAELIGDGMSDPTPPSNACT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95544	60	87	78	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	78	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	87	91	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	87	91	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	1	446	Chain	ID=PRO_0000120713;Note=NAD kinase
O95544	60	87	1	446	Chain	ID=PRO_0000120713;Note=NAD kinase
O95544	60	87	64	64	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18669648,PMID:23186163,PMID:24275569
O95544	60	87	64	64	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18669648,PMID:23186163,PMID:24275569
O95544	60	87	75	77	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	75	77	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	84	86	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	84	86	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN

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
O95544	60	87	11	87	Alternative sequence	ID=VSP_047312;Note=In isoform 3. NKELSPDAAAYCCSACHGDETWSYNHPIRGRAKSRSLSASPALGSTKEFRRTRSLHGPCPVTTFGPKACVLQNPQTI->GRPRVRQAWPGCCGHTGRLPAGRGYLASHMCDPAGAELIGDGMSDPTPPSNACT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95544	60	87	11	87	Alternative sequence	ID=VSP_047312;Note=In isoform 3. NKELSPDAAAYCCSACHGDETWSYNHPIRGRAKSRSLSASPALGSTKEFRRTRSLHGPCPVTTFGPKACVLQNPQTI->GRPRVRQAWPGCCGHTGRLPAGRGYLASHMCDPAGAELIGDGMSDPTPPSNACT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95544	60	87	78	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	78	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	87	91	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	87	91	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	1	446	Chain	ID=PRO_0000120713;Note=NAD kinase
O95544	60	87	1	446	Chain	ID=PRO_0000120713;Note=NAD kinase
O95544	60	87	64	64	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18669648,PMID:23186163,PMID:24275569
O95544	60	87	64	64	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18669648,PMID:23186163,PMID:24275569
O95544	60	87	75	77	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	75	77	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	84	86	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN
O95544	60	87	84	86	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PFN

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SNVs in the skipped exons for NADK

- 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.

NADK_LIHC_exon_skip_20583_psi_boxplot.png
boxplot

NADK_STAD_exon_skip_20583_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_20583	1685490	1685647	1685540	1685540	Frame_Shift_Del	G	-	p.H496fs
LIHC	TCGA-2Y-A9GY-01	exon_skip_20587	1686813	1686915	1686825	1686825	Frame_Shift_Del	G	-	p.Q371fs
STAD	TCGA-BR-4370-01	exon_skip_20590 exon_skip_20589	1687697	1687782	1687734	1687734	Frame_Shift_Del	C	-	p.G183fs
STAD	TCGA-BR-4370-01	exon_skip_20590 exon_skip_20589	1687697	1687782	1687734	1687734	Frame_Shift_Del	C	-	p.G328fs
STAD	TCGA-CG-5721-01	exon_skip_20583	1685490	1685647	1685539	1685540	Frame_Shift_Ins	-	G	p.H496fs
STAD	TCGA-CG-5721-01	exon_skip_20583	1685490	1685647	1685540	1685541	Frame_Shift_Ins	-	G	p.H351fs
LIHC	TCGA-2Y-A9GY-01	exon_skip_20587	1686813	1686915	1686824	1686825	Frame_Shift_Ins	-	TTTC	p.Q371fs
SKCM	TCGA-FW-A3R5-06	exon_skip_20587	1686813	1686915	1686834	1686834	Nonsense_Mutation	G	A	p.Q191X
SKCM	TCGA-FW-A3R5-06	exon_skip_20587	1686813	1686915	1686834	1686834	Nonsense_Mutation	G	A	p.Q368*
HNSC	TCGA-CN-A63Y-01	exon_skip_20587	1686813	1686915	1686840	1686840	Nonsense_Mutation	G	A	p.Q366*
STAD	TCGA-BR-4257-01	exon_skip_20592	1687942	1688047	1687948	1687948	Nonsense_Mutation	G	A	p.R165*
STAD	TCGA-CD-A4MG-01	exon_skip_20611 exon_skip_20610	1696667	1696885	1696665	1696665	Splice_Site	A	G	.
STAD	TCGA-CD-A4MG-01	exon_skip_20611 exon_skip_20610	1696667	1696885	1696665	1696665	Splice_Site	A	G	p.R60_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CG-5721-01
	Cancer type: STAD
	ESID: exon_skip_20583
	Skipped exon start: 1685490
	Skipped exon end: 1685647
	Mutation start: 1685539
	Mutation end: 1685540
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.H496fs
	Sample: TCGA-CG-5721-01
	Cancer type: STAD
	ESID: exon_skip_20583
	Skipped exon start: 1685490
	Skipped exon end: 1685647
	Mutation start: 1685540
	Mutation end: 1685541
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.H351fs
exon_skip_107493_STAD_TCGA-CG-5721-01.png
exon_skip_107867_STAD_TCGA-CG-5721-01.png
exon_skip_123973_STAD_TCGA-CG-5721-01.png
exon_skip_124728_STAD_TCGA-CG-5721-01.png
exon_skip_20583_STAD_TCGA-CG-5721-01.png
exon_skip_284550_STAD_TCGA-CG-5721-01.png
exon_skip_287086_STAD_TCGA-CG-5721-01.png
exon_skip_287092_STAD_TCGA-CG-5721-01.png
exon_skip_328008_STAD_TCGA-CG-5721-01.png
exon_skip_347989_STAD_TCGA-CG-5721-01.png
exon_skip_360357_STAD_TCGA-CG-5721-01.png
exon_skip_360359_STAD_TCGA-CG-5721-01.png
exon_skip_361242_STAD_TCGA-CG-5721-01.png
exon_skip_363554_STAD_TCGA-CG-5721-01.png
exon_skip_370065_STAD_TCGA-CG-5721-01.png
exon_skip_377240_STAD_TCGA-CG-5721-01.png
exon_skip_378735_STAD_TCGA-CG-5721-01.png
exon_skip_41850_STAD_TCGA-CG-5721-01.png
exon_skip_425098_STAD_TCGA-CG-5721-01.png
exon_skip_443908_STAD_TCGA-CG-5721-01.png
exon_skip_449553_STAD_TCGA-CG-5721-01.png
exon_skip_452918_STAD_TCGA-CG-5721-01.png
exon_skip_454809_STAD_TCGA-CG-5721-01.png
exon_skip_462689_STAD_TCGA-CG-5721-01.png
exon_skip_482821_STAD_TCGA-CG-5721-01.png
exon_skip_482822_STAD_TCGA-CG-5721-01.png
exon_skip_487878_STAD_TCGA-CG-5721-01.png
exon_skip_502793_STAD_TCGA-CG-5721-01.png
exon_skip_508189_STAD_TCGA-CG-5721-01.png
exon_skip_516607_STAD_TCGA-CG-5721-01.png
exon_skip_54935_STAD_TCGA-CG-5721-01.png
exon_skip_96977_STAD_TCGA-CG-5721-01.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
SNUC5_LARGE_INTESTINE	1687697	1687782	1687734	1687734	Frame_Shift_Del	C	-	p.G183fs
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1685006	1685088	1685019	1685019	Missense_Mutation	G	A	p.R391C
EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1685006	1685088	1685046	1685046	Missense_Mutation	A	G	p.F382L
SNU1040_LARGE_INTESTINE	1685490	1685647	1685507	1685507	Missense_Mutation	C	T	p.A362T
MCC26_SKIN	1685490	1685647	1685579	1685579	Missense_Mutation	G	C	p.P338A
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1685490	1685647	1685599	1685599	Missense_Mutation	G	A	p.A331V
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1685490	1685647	1685599	1685599	Missense_Mutation	G	A	p.A331V
MZ7MEL_SKIN	1685490	1685647	1685602	1685602	Missense_Mutation	G	A	p.A330V
22RV1_PROSTATE	1685490	1685647	1685635	1685635	Missense_Mutation	G	A	p.S319F
NB17_AUTONOMIC_GANGLIA	1686813	1686915	1686816	1686816	Missense_Mutation	C	T	p.E229K
HEC59_ENDOMETRIUM	1687697	1687782	1687714	1687714	Missense_Mutation	C	T	p.A190T
HCC1569_BREAST	1687942	1688047	1687954	1687954	Missense_Mutation	T	C	p.T163A
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1687942	1688047	1687966	1687966	Missense_Mutation	T	C	p.K159E
SUM229PE_BREAST	1687942	1688047	1687990	1687990	Missense_Mutation	C	T	p.D151N
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1693391	1693474	1693466	1693466	Missense_Mutation	C	T	p.R63H
HEC59_ENDOMETRIUM	1696667	1696885	1696730	1696730	Missense_Mutation	C	T	p.R39Q
HS939T_SKIN	1696667	1696885	1696775	1696775	Missense_Mutation	G	A	p.S24L
HEC6_ENDOMETRIUM	1696667	1696885	1696794	1696794	Missense_Mutation	C	T	p.A18T
CA922_UPPER_AERODIGESTIVE_TRACT	1687942	1688047	1687948	1687948	Nonsense_Mutation	G	A	p.R165*
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1687942	1688047	1687948	1687948	Nonsense_Mutation	G	A	p.R165*
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1687942	1688047	1687943	1687943	Splice_Site	T	A	p.E166D

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

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 NADK

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

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RelatedDrugs for NADK

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 NADK

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for NADK

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

Gene isoform structures and expression levels for NADK

Exon skipping events with PSIs in TCGA for NADK

Exon skipping events with PSIs in GTEx for NADK

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

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

SNVs in the skipped exons for NADK

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

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

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

RelatedDrugs for NADK

RelatedDiseases for NADK