ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NAE1

Gene summary

Gene information	Gene symbol	NAE1
	Gene ID	8883
	Gene name	NEDD8 activating enzyme E1 subunit 1
	Synonyms	A-116A10.1\|APPBP1\|HPP1\|ula-1
	Cytomap	16q22.1
	Type of gene	protein-coding
	Description	NEDD8-activating enzyme E1 regulatory subunitAPP-BP1NEDD8-activating enzyme E1 subunitamyloid beta precursor protein binding protein 1, 59kDaamyloid beta precursor protein-binding protein 1, 59 kDaamyloid beta precursor protein-binding protein 1, 59k
	Modification date	20180523
	UniProtAcc	Q13564
	Context	PubMed: NAE1 [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
NAE1	GO:0033314	mitotic DNA replication checkpoint	10722740
NAE1	GO:0042981	regulation of apoptotic process	14557245
NAE1	GO:0043523	regulation of neuron apoptotic process	10722740
NAE1	GO:0045116	protein neddylation	10207026\|12740388
NAE1	GO:0051402	neuron apoptotic process	14557245

Top

Exon skipping events across known transcript of Ensembl for NAE1 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.

Top

Gene isoform structures and expression levels for NAE1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for NAE1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_145084	16	66836814:66837021:66839679:66839729:66839814:66839929	66839679:66839729	ENSG00000159593.10	ENST00000290810.3,ENST00000394074.2,ENST00000379463.2,ENST00000568672.1,ENST00000359087.4
exon_skip_145085	16	66836814:66837021:66839679:66839765:66839814:66839929	66839679:66839765	ENSG00000159593.10	ENST00000562428.2
exon_skip_145087	16	66836814:66837021:66839814:66839929:66842423:66842451	66839814:66839929	ENSG00000159593.10	ENST00000566663.1
exon_skip_145090	16	66839814:66839929:66842423:66842516:66842891:66842978	66842423:66842516	ENSG00000159593.10	ENST00000290810.3,ENST00000394074.2,ENST00000379463.2,ENST00000566663.1,ENST00000359087.4
exon_skip_145092	16	66842423:66842516:66842891:66842978:66844276:66844316	66842891:66842978	ENSG00000159593.10	ENST00000290810.3,ENST00000394074.2,ENST00000379463.2,ENST00000566663.1,ENST00000359087.4
exon_skip_145094	16	66842891:66842978:66844276:66844316:66844599:66844602	66844276:66844316	ENSG00000159593.10	ENST00000290810.3,ENST00000394074.2,ENST00000379463.2,ENST00000566663.1,ENST00000359087.4
exon_skip_145097	16	66844599:66844675:66847466:66847600:66847689:66847749	66847466:66847600	ENSG00000159593.10	ENST00000290810.3,ENST00000394074.2,ENST00000379463.2,ENST00000359087.4
exon_skip_145101	16	66850549:66850575:66850867:66850931:66851327:66851390	66850867:66850931	ENSG00000159593.10	ENST00000563253.1,ENST00000290810.3,ENST00000394074.2,ENST00000379463.2,ENST00000359087.4
exon_skip_145102	16	66852535:66852540:66855352:66855462:66857129:66857165	66855352:66855462	ENSG00000159593.10	ENST00000561579.2,ENST00000563253.1,ENST00000290810.3,ENST00000394074.2,ENST00000379463.2,ENST00000567743.1,ENST00000564040.2,ENST00000359087.4
exon_skip_145103	16	66855358:66855462:66857129:66857165:66857431:66857503	66857129:66857165	ENSG00000159593.10	ENST00000564040.2
exon_skip_145104	16	66855358:66855462:66857129:66857209:66857431:66857503	66857129:66857209	ENSG00000159593.10	ENST00000561579.2,ENST00000569388.1,ENST00000290810.3,ENST00000394074.2,ENST00000379463.2,ENST00000567743.1,ENST00000566336.1,ENST00000359087.4
exon_skip_145114	16	66857183:66857209:66857431:66857503:66858757:66858788	66857431:66857503	ENSG00000159593.10	ENST00000561579.2,ENST00000290810.3,ENST00000569348.1,ENST00000394074.2,ENST00000379463.2,ENST00000567743.1,ENST00000566336.1,ENST00000359087.4,ENST00000565535.1
exon_skip_145115	16	66857183:66857209:66857431:66857503:66860425:66860486	66857431:66857503	ENSG00000159593.10	ENST00000569388.1
exon_skip_145121	16	66857431:66857503:66858757:66858788:66860425:66860486	66858757:66858788	ENSG00000159593.10	ENST00000561579.2,ENST00000290810.3,ENST00000569348.1,ENST00000394074.2,ENST00000379463.2,ENST00000567743.1,ENST00000564040.2,ENST00000566336.1,ENST00000359087.4,ENST00000562757.1,ENST00000565535.1
exon_skip_145126	16	66858757:66858788:66860425:66860486:66864749:66864820	66860425:66860486	ENSG00000159593.10	ENST00000394074.2,ENST00000567743.1
exon_skip_145128	16	66860425:66860486:66860570:66860683:66864749:66864820	66860570:66860683	ENSG00000159593.10	ENST00000359087.4
exon_skip_145129	16	66860425:66860486:66860579:66860683:66864749:66864820	66860579:66860683	ENSG00000159593.10	ENST00000569388.1,ENST00000563419.1,ENST00000290810.3,ENST00000569963.1,ENST00000564040.2,ENST00000562757.1
exon_skip_145131	16	66860579:66860683:66861362:66861467:66864749:66864820	66861362:66861467	ENSG00000159593.10	ENST00000565535.1
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENSG00000159593.10	ENST00000569348.1
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENSG00000159593.10	ENST00000379463.2
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENSG00000159593.10	ENST00000566336.1

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for NAE1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_145084	16	66836814:66837021:66839679:66839729:66839814:66839929	66839679:66839729	ENSG00000159593.10	ENST00000359087.4,ENST00000290810.3,ENST00000568672.1,ENST00000379463.2,ENST00000394074.2
exon_skip_145085	16	66836814:66837021:66839679:66839765:66839814:66839929	66839679:66839765	ENSG00000159593.10	ENST00000562428.2
exon_skip_145087	16	66836814:66837021:66839814:66839929:66842423:66842451	66839814:66839929	ENSG00000159593.10	ENST00000566663.1
exon_skip_145090	16	66839814:66839929:66842423:66842516:66842891:66842978	66842423:66842516	ENSG00000159593.10	ENST00000359087.4,ENST00000290810.3,ENST00000566663.1,ENST00000379463.2,ENST00000394074.2
exon_skip_145092	16	66842423:66842516:66842891:66842978:66844276:66844316	66842891:66842978	ENSG00000159593.10	ENST00000359087.4,ENST00000290810.3,ENST00000566663.1,ENST00000379463.2,ENST00000394074.2
exon_skip_145094	16	66842891:66842978:66844276:66844316:66844599:66844602	66844276:66844316	ENSG00000159593.10	ENST00000359087.4,ENST00000290810.3,ENST00000566663.1,ENST00000379463.2,ENST00000394074.2
exon_skip_145097	16	66844599:66844675:66847466:66847600:66847689:66847749	66847466:66847600	ENSG00000159593.10	ENST00000359087.4,ENST00000290810.3,ENST00000379463.2,ENST00000394074.2
exon_skip_145101	16	66850549:66850575:66850867:66850931:66851327:66851390	66850867:66850931	ENSG00000159593.10	ENST00000359087.4,ENST00000290810.3,ENST00000379463.2,ENST00000394074.2,ENST00000563253.1
exon_skip_145102	16	66852535:66852540:66855352:66855462:66857129:66857165	66855352:66855462	ENSG00000159593.10	ENST00000359087.4,ENST00000290810.3,ENST00000379463.2,ENST00000394074.2,ENST00000567743.1,ENST00000563253.1,ENST00000561579.2,ENST00000564040.2
exon_skip_145103	16	66855358:66855462:66857129:66857165:66857431:66857503	66857129:66857165	ENSG00000159593.10	ENST00000564040.2
exon_skip_145104	16	66855358:66855462:66857129:66857209:66857431:66857503	66857129:66857209	ENSG00000159593.10	ENST00000359087.4,ENST00000290810.3,ENST00000379463.2,ENST00000394074.2,ENST00000567743.1,ENST00000561579.2,ENST00000569388.1,ENST00000566336.1
exon_skip_145107	16	66855358:66855462:66857129:66857209:66864749:66864820	66857129:66857209	ENSG00000159593.10	ENST00000563253.1
exon_skip_145114	16	66857183:66857209:66857431:66857503:66858757:66858788	66857431:66857503	ENSG00000159593.10	ENST00000359087.4,ENST00000290810.3,ENST00000379463.2,ENST00000394074.2,ENST00000567743.1,ENST00000561579.2,ENST00000566336.1,ENST00000565535.1,ENST00000569348.1
exon_skip_145115	16	66857183:66857209:66857431:66857503:66860425:66860486	66857431:66857503	ENSG00000159593.10	ENST00000569388.1
exon_skip_145121	16	66857431:66857503:66858757:66858788:66860425:66860486	66858757:66858788	ENSG00000159593.10	ENST00000359087.4,ENST00000290810.3,ENST00000379463.2,ENST00000394074.2,ENST00000567743.1,ENST00000561579.2,ENST00000564040.2,ENST00000566336.1,ENST00000565535.1,ENST00000569348.1,ENST00000562757.1
exon_skip_145126	16	66858757:66858788:66860425:66860486:66864749:66864820	66860425:66860486	ENSG00000159593.10	ENST00000394074.2,ENST00000567743.1
exon_skip_145128	16	66860425:66860486:66860570:66860683:66864749:66864820	66860570:66860683	ENSG00000159593.10	ENST00000359087.4
exon_skip_145129	16	66860425:66860486:66860579:66860683:66864749:66864820	66860579:66860683	ENSG00000159593.10	ENST00000290810.3,ENST00000564040.2,ENST00000569388.1,ENST00000562757.1,ENST00000563419.1,ENST00000569963.1
exon_skip_145131	16	66860579:66860683:66861362:66861467:66864749:66864820	66861362:66861467	ENSG00000159593.10	ENST00000565535.1
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENSG00000159593.10	ENST00000569348.1
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENSG00000159593.10	ENST00000379463.2
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENSG00000159593.10	ENST00000566336.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for NAE1

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
ENST00000290810	66839679	66839729	Frame-shift
ENST00000290810	66844276	66844316	Frame-shift
ENST00000290810	66847466	66847600	Frame-shift
ENST00000290810	66850867	66850931	Frame-shift
ENST00000290810	66855352	66855462	Frame-shift
ENST00000290810	66857129	66857209	Frame-shift
ENST00000290810	66858757	66858788	Frame-shift
ENST00000290810	66860579	66860683	Frame-shift
ENST00000290810	66842423	66842516	In-frame
ENST00000290810	66842891	66842978	In-frame
ENST00000290810	66857431	66857503	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
ENST00000290810	66839679	66839729	Frame-shift
ENST00000290810	66844276	66844316	Frame-shift
ENST00000290810	66847466	66847600	Frame-shift
ENST00000290810	66850867	66850931	Frame-shift
ENST00000290810	66855352	66855462	Frame-shift
ENST00000290810	66857129	66857209	Frame-shift
ENST00000290810	66858757	66858788	Frame-shift
ENST00000290810	66860579	66860683	Frame-shift
ENST00000290810	66842423	66842516	In-frame
ENST00000290810	66842891	66842978	In-frame
ENST00000290810	66857431	66857503	In-frame

Top

Infer the effects of exon skipping event on protein functional features for NAE1

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
ENST00000290810	1854	534	66857431	66857503	348	419	83	107
ENST00000290810	1854	534	66842891	66842978	1249	1335	383	412
ENST00000290810	1854	534	66842423	66842516	1336	1428	412	443

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
ENST00000290810	1854	534	66857431	66857503	348	419	83	107
ENST00000290810	1854	534	66842891	66842978	1249	1335	383	412
ENST00000290810	1854	534	66842423	66842516	1336	1428	412	443

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
Q13564	83	107	1	89	Alternative sequence	ID=VSP_054258;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13564	83	107	104	107	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	83	107	2	534	Chain	ID=PRO_0000194951;Note=NEDD8-activating enzyme E1 regulatory subunit
Q13564	83	107	85	94	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	83	107	101	101	Natural variant	ID=VAR_052435;Note=S->F;Dbxref=dbSNP:rs363212
Q13564	383	412	391	393	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	383	412	2	534	Chain	ID=PRO_0000194951;Note=NEDD8-activating enzyme E1 regulatory subunit
Q13564	383	412	377	385	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	383	412	387	389	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	383	412	398	402	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	383	412	409	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	383	412	404	406	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	412	443	2	534	Chain	ID=PRO_0000194951;Note=NEDD8-activating enzyme E1 regulatory subunit
Q13564	412	443	409	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	412	443	423	439	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5

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
Q13564	83	107	1	89	Alternative sequence	ID=VSP_054258;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13564	83	107	104	107	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	83	107	2	534	Chain	ID=PRO_0000194951;Note=NEDD8-activating enzyme E1 regulatory subunit
Q13564	83	107	85	94	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	83	107	101	101	Natural variant	ID=VAR_052435;Note=S->F;Dbxref=dbSNP:rs363212
Q13564	383	412	391	393	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	383	412	2	534	Chain	ID=PRO_0000194951;Note=NEDD8-activating enzyme E1 regulatory subunit
Q13564	383	412	377	385	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	383	412	387	389	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	383	412	398	402	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	383	412	409	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	383	412	404	406	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	412	443	2	534	Chain	ID=PRO_0000194951;Note=NEDD8-activating enzyme E1 regulatory subunit
Q13564	412	443	409	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5
Q13564	412	443	423	439	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TT5

Top

SNVs in the skipped exons for NAE1

- 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-A3A1-01	exon_skip_145133 exon_skip_145132	66861838	66861980	66861892	66861892	Frame_Shift_Del	T	-	p.N9fs
LIHC	TCGA-DD-A3A1-01	exon_skip_145133 exon_skip_145132	66861883	66861980	66861892	66861892	Frame_Shift_Del	T	-	p.N9fs
LIHC	TCGA-DD-A3A1-01	exon_skip_145134	66861883	66862045	66861892	66861892	Frame_Shift_Del	T	-	p.N9fs
UCEC	TCGA-AP-A056-01	exon_skip_145087	66839815	66839929	66839819	66839819	Nonsense_Mutation	C	A	p.E481*
STAD	TCGA-BR-8680-01	exon_skip_145094	66844277	66844316	66844292	66844292	Nonsense_Mutation	C	A	p.E379*
STAD	TCGA-BR-8680-01	exon_skip_145094	66844277	66844316	66844292	66844292	Nonsense_Mutation	C	A	p.E379X
ESCA	TCGA-LN-A49L-01	exon_skip_145097	66847467	66847600	66847533	66847533	Nonsense_Mutation	A	C	p.L317*
ESCA	TCGA-LN-A49L-01	exon_skip_145097	66847467	66847600	66847533	66847533	Nonsense_Mutation	A	C	p.L323*
ESCA	TCGA-LN-A49L-01	exon_skip_145097	66847467	66847600	66847533	66847533	Nonsense_Mutation	A	C	p.L323X
LUAD	TCGA-73-4666-01	exon_skip_145101	66850868	66850931	66850922	66850922	Nonsense_Mutation	G	A	p.R226*
READ	TCGA-AG-A002-01	exon_skip_145114 exon_skip_145115	66857432	66857503	66857470	66857470	Nonsense_Mutation	C	A	p.E95X
UCEC	TCGA-AX-A0J0-01	exon_skip_145114 exon_skip_145115	66857432	66857503	66857470	66857470	Nonsense_Mutation	C	A	p.E95*
LUAD	TCGA-44-2656-01	exon_skip_145084	66839680	66839729	66839678	66839679	Splice_Site	-	C	p.G499_splice
LUAD	TCGA-44-2656-01	exon_skip_145085	66839680	66839765	66839678	66839679	Splice_Site	-	C	p.G499_splice
READ	TCGA-F5-6814-01	exon_skip_145114 exon_skip_145115	66857432	66857503	66857504	66857504	Splice_Site	C	A	.
KIRP	TCGA-IZ-8196-01	exon_skip_145114 exon_skip_145115	66857432	66857503	66857505	66857505	Splice_Site	T	C	.
COAD	TCGA-AU-6004-01	exon_skip_145126	66860426	66860486	66860487	66860487	Splice_Site	C	A	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-F5-6814-01
	Cancer type: READ
	ESID: exon_skip_145115
	Skipped exon start: 66857432
	Skipped exon end: 66857503
	Mutation start: 66857504
	Mutation end: 66857504
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: A
	AAchange: .
exon_skip_104037_READ_TCGA-F5-6814-01.png
exon_skip_108731_READ_TCGA-F5-6814-01.png
exon_skip_111139_READ_TCGA-F5-6814-01.png
exon_skip_111141_READ_TCGA-F5-6814-01.png
exon_skip_134785_READ_TCGA-F5-6814-01.png
exon_skip_138676_READ_TCGA-F5-6814-01.png
exon_skip_141979_READ_TCGA-F5-6814-01.png
exon_skip_142361_READ_TCGA-F5-6814-01.png
exon_skip_142369_READ_TCGA-F5-6814-01.png
exon_skip_142374_READ_TCGA-F5-6814-01.png
exon_skip_145114_READ_TCGA-F5-6814-01.png
exon_skip_145115_READ_TCGA-F5-6814-01.png
exon_skip_153669_READ_TCGA-F5-6814-01.png
exon_skip_28270_READ_TCGA-F5-6814-01.png
exon_skip_290191_READ_TCGA-F5-6814-01.png
exon_skip_296525_READ_TCGA-F5-6814-01.png
exon_skip_358963_READ_TCGA-F5-6814-01.png
exon_skip_428765_READ_TCGA-F5-6814-01.png
exon_skip_43545_READ_TCGA-F5-6814-01.png
exon_skip_444150_READ_TCGA-F5-6814-01.png
exon_skip_479241_READ_TCGA-F5-6814-01.png
exon_skip_497224_READ_TCGA-F5-6814-01.png
	Sample: TCGA-AG-A002-01
	Cancer type: READ
	ESID: exon_skip_145115
	Skipped exon start: 66857432
	Skipped exon end: 66857503
	Mutation start: 66857470
	Mutation end: 66857470
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E95X
exon_skip_115696_READ_TCGA-AG-A002-01.png
exon_skip_145114_READ_TCGA-AG-A002-01.png
exon_skip_145115_READ_TCGA-AG-A002-01.png
exon_skip_148319_READ_TCGA-AG-A002-01.png
exon_skip_148332_READ_TCGA-AG-A002-01.png
exon_skip_148345_READ_TCGA-AG-A002-01.png
exon_skip_148351_READ_TCGA-AG-A002-01.png
exon_skip_17994_READ_TCGA-AG-A002-01.png
exon_skip_290120_READ_TCGA-AG-A002-01.png
exon_skip_347548_READ_TCGA-AG-A002-01.png
exon_skip_376191_READ_TCGA-AG-A002-01.png
exon_skip_499103_READ_TCGA-AG-A002-01.png
	Sample: TCGA-AX-A0J0-01
	Cancer type: UCEC
	ESID: exon_skip_145115
	Skipped exon start: 66857432
	Skipped exon end: 66857503
	Mutation start: 66857470
	Mutation end: 66857470
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E95*
exon_skip_114672_UCEC_TCGA-AX-A0J0-01.png
exon_skip_145114_UCEC_TCGA-AX-A0J0-01.png
exon_skip_148176_UCEC_TCGA-AX-A0J0-01.png
exon_skip_148178_UCEC_TCGA-AX-A0J0-01.png
exon_skip_26303_UCEC_TCGA-AX-A0J0-01.png
exon_skip_316320_UCEC_TCGA-AX-A0J0-01.png
exon_skip_366628_UCEC_TCGA-AX-A0J0-01.png
exon_skip_422781_UCEC_TCGA-AX-A0J0-01.png
exon_skip_440271_UCEC_TCGA-AX-A0J0-01.png
exon_skip_47562_UCEC_TCGA-AX-A0J0-01.png
exon_skip_500520_UCEC_TCGA-AX-A0J0-01.png
exon_skip_60290_UCEC_TCGA-AX-A0J0-01.png
exon_skip_60294_UCEC_TCGA-AX-A0J0-01.png
	Sample: TCGA-F5-6814-01
	Cancer type: READ
	ESID: exon_skip_145115
	Skipped exon start: 66857432
	Skipped exon end: 66857503
	Mutation start: 66857504
	Mutation end: 66857504
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: A
	AAchange: .
exon_skip_104037_READ_TCGA-F5-6814-01.png
exon_skip_108731_READ_TCGA-F5-6814-01.png
exon_skip_111139_READ_TCGA-F5-6814-01.png
exon_skip_111141_READ_TCGA-F5-6814-01.png
exon_skip_134785_READ_TCGA-F5-6814-01.png
exon_skip_138676_READ_TCGA-F5-6814-01.png
exon_skip_141979_READ_TCGA-F5-6814-01.png
exon_skip_142361_READ_TCGA-F5-6814-01.png
exon_skip_142369_READ_TCGA-F5-6814-01.png
exon_skip_142374_READ_TCGA-F5-6814-01.png
exon_skip_145114_READ_TCGA-F5-6814-01.png
exon_skip_145115_READ_TCGA-F5-6814-01.png
exon_skip_153669_READ_TCGA-F5-6814-01.png
exon_skip_28270_READ_TCGA-F5-6814-01.png
exon_skip_290191_READ_TCGA-F5-6814-01.png
exon_skip_296525_READ_TCGA-F5-6814-01.png
exon_skip_358963_READ_TCGA-F5-6814-01.png
exon_skip_428765_READ_TCGA-F5-6814-01.png
exon_skip_43545_READ_TCGA-F5-6814-01.png
exon_skip_444150_READ_TCGA-F5-6814-01.png
exon_skip_479241_READ_TCGA-F5-6814-01.png
exon_skip_497224_READ_TCGA-F5-6814-01.png
	Sample: TCGA-AG-A002-01
	Cancer type: READ
	ESID: exon_skip_145115
	Skipped exon start: 66857432
	Skipped exon end: 66857503
	Mutation start: 66857470
	Mutation end: 66857470
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E95X
exon_skip_115696_READ_TCGA-AG-A002-01.png
exon_skip_145114_READ_TCGA-AG-A002-01.png
exon_skip_145115_READ_TCGA-AG-A002-01.png
exon_skip_148319_READ_TCGA-AG-A002-01.png
exon_skip_148332_READ_TCGA-AG-A002-01.png
exon_skip_148345_READ_TCGA-AG-A002-01.png
exon_skip_148351_READ_TCGA-AG-A002-01.png
exon_skip_17994_READ_TCGA-AG-A002-01.png
exon_skip_290120_READ_TCGA-AG-A002-01.png
exon_skip_347548_READ_TCGA-AG-A002-01.png
exon_skip_376191_READ_TCGA-AG-A002-01.png
exon_skip_499103_READ_TCGA-AG-A002-01.png
	Sample: TCGA-AX-A0J0-01
	Cancer type: UCEC
	ESID: exon_skip_145115
	Skipped exon start: 66857432
	Skipped exon end: 66857503
	Mutation start: 66857470
	Mutation end: 66857470
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E95*
exon_skip_114672_UCEC_TCGA-AX-A0J0-01.png
exon_skip_145114_UCEC_TCGA-AX-A0J0-01.png
exon_skip_148176_UCEC_TCGA-AX-A0J0-01.png
exon_skip_148178_UCEC_TCGA-AX-A0J0-01.png
exon_skip_26303_UCEC_TCGA-AX-A0J0-01.png
exon_skip_316320_UCEC_TCGA-AX-A0J0-01.png
exon_skip_366628_UCEC_TCGA-AX-A0J0-01.png
exon_skip_422781_UCEC_TCGA-AX-A0J0-01.png
exon_skip_440271_UCEC_TCGA-AX-A0J0-01.png
exon_skip_47562_UCEC_TCGA-AX-A0J0-01.png
exon_skip_500520_UCEC_TCGA-AX-A0J0-01.png
exon_skip_60290_UCEC_TCGA-AX-A0J0-01.png
exon_skip_60294_UCEC_TCGA-AX-A0J0-01.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
UACC893_BREAST	66847467	66847600	66847494	66847495	Frame_Shift_Ins	-	A	p.S336fs
ES5_BONE	66855353	66855462	66855375	66855376	In_Frame_Ins	-	TGA	p.163_163R>SQ
BICR18_UPPER_AERODIGESTIVE_TRACT	66855353	66855462	66855455	66855456	In_Frame_Ins	-	CAA	p.137_138insL
JHU022_UPPER_AERODIGESTIVE_TRACT	66839680	66839765	66839687	66839687	Missense_Mutation	G	T	p.F496L
JHU022_UPPER_AERODIGESTIVE_TRACT	66839680	66839729	66839687	66839687	Missense_Mutation	G	T	p.F496L
NCIH2170_LUNG	66839815	66839929	66839863	66839863	Missense_Mutation	T	C	p.Q466R
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	66839815	66839929	66839898	66839898	Missense_Mutation	T	C	p.I454M
HEC1A_ENDOMETRIUM	66842424	66842516	66842499	66842499	Missense_Mutation	G	A	p.P419S
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	66842892	66842978	66842942	66842942	Missense_Mutation	C	T	p.R396Q
MFE319_ENDOMETRIUM	66842892	66842978	66842946	66842946	Missense_Mutation	A	G	p.C395R
HUTU80_SMALL_INTESTINE	66842892	66842978	66842955	66842955	Missense_Mutation	C	T	p.V392M
22RV1_PROSTATE	66842892	66842978	66842975	66842975	Missense_Mutation	C	T	p.S385N
NCIH835_LUNG	66844277	66844316	66844300	66844300	Missense_Mutation	G	A	p.S376L
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	66850868	66850931	66850877	66850877	Missense_Mutation	T	A	p.I247F
SNU1040_LARGE_INTESTINE	66855353	66855462	66855452	66855452	Missense_Mutation	G	A	p.R138C
JHUEM7_ENDOMETRIUM	66857130	66857209	66857142	66857142	Missense_Mutation	T	G	p.Q130P
JHUEM7_ENDOMETRIUM	66857130	66857165	66857142	66857142	Missense_Mutation	T	G	p.Q130P
NCIH1437_LUNG	66857432	66857503	66857473	66857473	Missense_Mutation	G	C	p.Q94E
JHUEM7_ENDOMETRIUM	66857432	66857503	66857477	66857477	Missense_Mutation	G	T	p.F92L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	66857432	66857503	66857494	66857494	Missense_Mutation	C	G	p.E87Q
BICR18_UPPER_AERODIGESTIVE_TRACT	66857432	66857503	66857494	66857494	Missense_Mutation	C	G	p.E87Q
SW620_LARGE_INTESTINE	66860426	66860486	66860463	66860463	Missense_Mutation	C	T	p.D61N
HEC251_ENDOMETRIUM	66860571	66860683	66860628	66860628	Missense_Mutation	T	G	p.N37H
HEC251_ENDOMETRIUM	66860580	66860683	66860628	66860628	Missense_Mutation	T	G	p.N37H
HT1376_URINARY_TRACT	66860571	66860683	66860663	66860663	Missense_Mutation	T	C	p.Q25R
HT1376_URINARY_TRACT	66860580	66860683	66860663	66860663	Missense_Mutation	T	C	p.Q25R
HT29_LARGE_INTESTINE	66860571	66860683	66860666	66860666	Missense_Mutation	C	T	p.G24E
HT29_LARGE_INTESTINE	66860580	66860683	66860666	66860666	Missense_Mutation	C	T	p.G24E
HEC6_ENDOMETRIUM	66839680	66839765	66839725	66839725	Nonsense_Mutation	G	A	p.R484*
HEC6_ENDOMETRIUM	66839680	66839729	66839725	66839725	Nonsense_Mutation	G	A	p.R484*
JHUEM7_ENDOMETRIUM	66842892	66842978	66842958	66842958	Nonsense_Mutation	G	A	p.R391*
SNU1040_LARGE_INTESTINE	66860571	66860683	66860613	66860613	Nonsense_Mutation	C	A	p.G42*
SNU1040_LARGE_INTESTINE	66860580	66860683	66860613	66860613	Nonsense_Mutation	C	A	p.G42*

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NAE1

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_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	GBM	rs152164	chr16:66861966	C/T	1.26e-05
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	CESC	rs152164	chr16:66861966	C/T	2.12e-09
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	COAD	rs152164	chr16:66861966	C/T	8.50e-21
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	BLCA	rs152164	chr16:66861966	C/T	1.76e-08
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	ESCA	rs152164	chr16:66861966	C/T	2.08e-10
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	HNSC	rs152164	chr16:66861966	C/T	1.38e-15
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	HNSC	rs152164	chr16:66861966	C/T	4.44e-04
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	LGG	rs152164	chr16:66861966	C/T	3.05e-25
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	LGG	rs152164	chr16:66861966	C/T	1.34e-06
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	LGG	rs152164	chr16:66861966	C/T	3.29e-03
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	KIRC	rs152164	chr16:66861966	C/T	1.56e-31
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	KIRC	rs152164	chr16:66861966	C/T	1.84e-03
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	LUAD	rs152164	chr16:66861966	C/T	3.36e-16
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	LUAD	rs152164	chr16:66861966	C/T	1.75e-04
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	MESO	rs152164	chr16:66861966	C/T	5.71e-05
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	LUSC	rs152164	chr16:66861966	C/T	2.02e-20
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	LUSC	rs152164	chr16:66861966	C/T	1.32e-04
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	READ	rs152164	chr16:66861966	C/T	1.80e-04
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	PCPG	rs152164	chr16:66861966	C/T	4.34e-09
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	PAAD	rs152164	chr16:66861966	C/T	1.24e-05
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	PRAD	rs152164	chr16:66861966	C/T	1.65e-15
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	PRAD	rs152164	chr16:66861966	C/T	3.69e-04
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	THYM	rs152164	chr16:66861966	C/T	1.95e-04
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	TGCT	rs152164	chr16:66861966	C/T	1.13e-09
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	TGCT	rs152164	chr16:66861966	C/T	8.77e-06
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	SKCM	rs152164	chr16:66861966	C/T	1.46e-05
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	STAD	rs152164	chr16:66861966	C/T	4.80e-18
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	THCA	rs152164	chr16:66861966	C/T	5.07e-16
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	THCA	rs152164	chr16:66861966	C/T	1.52e-04
exon_skip_145134	16	66860579:66860683:66861882:66862045:66864749:66864820	66861882:66862045	ENST00000566336.1	THCA	rs152164	chr16:66861966	C/T	4.68e-04
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	GBM	rs152164	chr16:66861966	C/T	1.26e-05
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	CESC	rs152164	chr16:66861966	C/T	2.12e-09
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	COAD	rs152164	chr16:66861966	C/T	8.50e-21
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	BLCA	rs152164	chr16:66861966	C/T	1.76e-08
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	ESCA	rs152164	chr16:66861966	C/T	2.08e-10
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	HNSC	rs152164	chr16:66861966	C/T	1.38e-15
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	HNSC	rs152164	chr16:66861966	C/T	4.44e-04
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	LGG	rs152164	chr16:66861966	C/T	3.05e-25
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	LGG	rs152164	chr16:66861966	C/T	1.34e-06
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	LGG	rs152164	chr16:66861966	C/T	3.29e-03
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	KIRC	rs152164	chr16:66861966	C/T	1.56e-31
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	KIRC	rs152164	chr16:66861966	C/T	1.84e-03
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	LUAD	rs152164	chr16:66861966	C/T	3.36e-16
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	LUAD	rs152164	chr16:66861966	C/T	1.75e-04
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	MESO	rs152164	chr16:66861966	C/T	5.71e-05
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	LUSC	rs152164	chr16:66861966	C/T	2.02e-20
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	LUSC	rs152164	chr16:66861966	C/T	1.32e-04
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	READ	rs152164	chr16:66861966	C/T	1.80e-04
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	PCPG	rs152164	chr16:66861966	C/T	4.34e-09
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	PAAD	rs152164	chr16:66861966	C/T	1.24e-05
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	PRAD	rs152164	chr16:66861966	C/T	1.65e-15
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	PRAD	rs152164	chr16:66861966	C/T	3.69e-04
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	THYM	rs152164	chr16:66861966	C/T	1.95e-04
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	TGCT	rs152164	chr16:66861966	C/T	1.13e-09
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	TGCT	rs152164	chr16:66861966	C/T	8.77e-06
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	SKCM	rs152164	chr16:66861966	C/T	1.46e-05
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	STAD	rs152164	chr16:66861966	C/T	4.80e-18
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	THCA	rs152164	chr16:66861966	C/T	5.07e-16
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	THCA	rs152164	chr16:66861966	C/T	1.52e-04
exon_skip_145133	16	66860579:66860683:66861882:66861980:66864749:66864820	66861882:66861980	ENST00000379463.2	THCA	rs152164	chr16:66861966	C/T	4.68e-04
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	GBM	rs7195853	chr16:66861836	G/A	1.76e-08
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	GBM	rs152164	chr16:66861966	C/T	1.26e-05
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	CESC	rs152164	chr16:66861966	C/T	2.12e-09
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	CESC	rs7195853	chr16:66861836	G/A	1.16e-07
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	COAD	rs152164	chr16:66861966	C/T	8.50e-21
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	COAD	rs7195853	chr16:66861836	G/A	6.35e-18
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	BLCA	rs152164	chr16:66861966	C/T	1.76e-08
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	BLCA	rs7195853	chr16:66861836	G/A	1.49e-06
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	ESCA	rs152164	chr16:66861966	C/T	2.08e-10
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	ESCA	rs7195853	chr16:66861836	G/A	1.46e-04
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	HNSC	rs152164	chr16:66861966	C/T	1.38e-15
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	HNSC	rs152164	chr16:66861966	C/T	4.44e-04
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	LGG	rs152164	chr16:66861966	C/T	3.05e-25
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	LGG	rs7195853	chr16:66861836	G/A	1.00e-23
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	LGG	rs152164	chr16:66861966	C/T	1.34e-06
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	LGG	rs152164	chr16:66861966	C/T	3.29e-03
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	KIRC	rs152164	chr16:66861966	C/T	1.56e-31
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	KIRC	rs7195853	chr16:66861836	G/A	6.90e-18
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	KIRC	rs152164	chr16:66861966	C/T	1.84e-03
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	LUAD	rs152164	chr16:66861966	C/T	3.36e-16
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	LUAD	rs7195853	chr16:66861836	G/A	3.03e-11
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	LUAD	rs152164	chr16:66861966	C/T	1.75e-04
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	MESO	rs152164	chr16:66861966	C/T	5.71e-05
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	MESO	rs7195853	chr16:66861836	G/A	9.15e-05
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	LUSC	rs152164	chr16:66861966	C/T	2.02e-20
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	LUSC	rs152164	chr16:66861966	C/T	1.32e-04
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	OV	rs7195853	chr16:66861836	G/A	5.53e-15
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	READ	rs152164	chr16:66861966	C/T	1.80e-04
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	PCPG	rs152164	chr16:66861966	C/T	4.34e-09
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	PCPG	rs7195853	chr16:66861836	G/A	5.06e-08
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	PAAD	rs7195853	chr16:66861836	G/A	5.05e-06
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	PAAD	rs152164	chr16:66861966	C/T	1.24e-05
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	PRAD	rs152164	chr16:66861966	C/T	1.65e-15
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	PRAD	rs152164	chr16:66861966	C/T	3.69e-04
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	THYM	rs152164	chr16:66861966	C/T	1.95e-04
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	TGCT	rs152164	chr16:66861966	C/T	1.13e-09
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	TGCT	rs152164	chr16:66861966	C/T	8.77e-06
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	TGCT	rs7195853	chr16:66861836	G/A	7.14e-04
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	SKCM	rs152164	chr16:66861966	C/T	1.46e-05
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	STAD	rs152164	chr16:66861966	C/T	4.80e-18
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	STAD	rs7195853	chr16:66861836	G/A	4.93e-09
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	THCA	rs7195853	chr16:66861836	G/A	2.62e-23
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	THCA	rs152164	chr16:66861966	C/T	5.07e-16
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	THCA	rs152164	chr16:66861966	C/T	1.52e-04
exon_skip_145132	16	66860579:66860683:66861837:66861980:66864749:66864820	66861837:66861980	ENST00000569348.1	THCA	rs152164	chr16:66861966	C/T	4.68e-04

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAE1

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAE1

Top

RelatedDrugs for NAE1

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

Top

RelatedDiseases for NAE1

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

Home

Download

Statistics

Landscape

Help

Contact