ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NUP98

Gene summary

Gene information	Gene symbol	NUP98
	Gene ID	4928
	Gene name	nucleoporin 98
	Synonyms	ADIR2\|NUP196\|NUP96
	Cytomap	11p15.4
	Type of gene	protein-coding
	Description	nuclear pore complex protein Nup98-Nup96nuclear pore complex protein Nup98GLFG-repeat containing nucleoporinNUP98/PHF23 fusion 2 proteinNup98-Nup96nucleoporin 98kDnucleoporin 98kDa
	Modification date	20180523
	UniProtAcc	P52948
	Context	PubMed: NUP98 [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 NUP98 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 NUP98

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 NUP98

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_68189	11	3697738:3697850:3700783:3700938:3704429:3704577	3700783:3700938	ENSG00000110713.11	ENST00000324932.7,ENST00000429801.1,ENST00000355260.3
exon_skip_68192	11	3700867:3700938:3704429:3704671:3707202:3707424	3704429:3704671	ENSG00000110713.11	ENST00000324932.7,ENST00000429801.1
exon_skip_68193	11	3700867:3700938:3704429:3704671:3712576:3712719	3704429:3704671	ENSG00000110713.11	ENST00000355260.3,ENST00000359171.4
exon_skip_68197	11	3704429:3704671:3707202:3707424:3712576:3712719	3707202:3707424	ENSG00000110713.11	ENST00000324932.7,ENST00000429801.1
exon_skip_68198	11	3704429:3704671:3707293:3707424:3712576:3712719	3707293:3707424	ENSG00000110713.11	ENST00000524563.1
exon_skip_68199	11	3707293:3707424:3712576:3712719:3714461:3714605	3712576:3712719	ENSG00000110713.11	ENST00000324932.7,ENST00000524563.1,ENST00000429801.1
exon_skip_68200	11	3712576:3712719:3714461:3714605:3716678:3716788	3714461:3714605	ENSG00000110713.11	ENST00000324932.7,ENST00000524563.1,ENST00000429801.1,ENST00000355260.3,ENST00000359171.4
exon_skip_68202	11	3716748:3716836:3720311:3720578:3723692:3723881	3720311:3720578	ENSG00000110713.11	ENST00000529063.1
exon_skip_68206	11	3720311:3720578:3721839:3722069:3723692:3723881	3721839:3722069	ENSG00000110713.11	ENST00000324932.7,ENST00000355260.3,ENST00000359171.4
exon_skip_68209	11	3721839:3722069:3723692:3724122:3726429:3726586	3723692:3724122	ENSG00000110713.11	ENST00000324932.7,ENST00000355260.3,ENST00000359171.4
exon_skip_68210	11	3721839:3722069:3724001:3724122:3726429:3726586	3724001:3724122	ENSG00000110713.11	ENST00000429801.1
exon_skip_68212	11	3724001:3724122:3726429:3726586:3727674:3727765	3726429:3726586	ENSG00000110713.11	ENST00000324932.7,ENST00000429801.1,ENST00000355260.3,ENST00000359171.4
exon_skip_68215	11	3727674:3727857:3733793:3733958:3735047:3735225	3733793:3733958	ENSG00000110713.11	ENST00000324932.7,ENST00000355260.3,ENST00000359171.4
exon_skip_68216	11	3735047:3735225:3740641:3740780:3741941:3742055	3740641:3740780	ENSG00000110713.11	ENST00000397007.4,ENST00000324932.7,ENST00000397004.4,ENST00000355260.3,ENST00000359171.4
exon_skip_68217	11	3740717:3740780:3741941:3742055:3744386:3744685	3741941:3742055	ENSG00000110713.11	ENST00000397007.4,ENST00000324932.7,ENST00000397004.4,ENST00000355260.3,ENST00000359171.4
exon_skip_68218	11	3744386:3744685:3746332:3746449:3752620:3752808	3746332:3746449	ENSG00000110713.11	ENST00000397007.4,ENST00000324932.7,ENST00000397004.4,ENST00000355260.3,ENST00000359171.4
exon_skip_68219	11	3746332:3746449:3752620:3752808:3756420:3756554	3752620:3752808	ENSG00000110713.11	ENST00000397007.4,ENST00000324932.7,ENST00000527104.1,ENST00000397004.4,ENST00000355260.3,ENST00000359171.4
exon_skip_68220	11	3756420:3756554:3765738:3765879:3774545:3774638	3765738:3765879	ENSG00000110713.11	ENST00000397007.4,ENST00000324932.7,ENST00000527104.1,ENST00000397004.4,ENST00000355260.3,ENST00000397013.2,ENST00000359171.4
exon_skip_68221	11	3774545:3774638:3781617:3781856:3784131:3784163	3781617:3781856	ENSG00000110713.11	ENST00000397013.2
exon_skip_68222	11	3774545:3774638:3781717:3781856:3784131:3784163	3781717:3781856	ENSG00000110713.11	ENST00000397007.4
exon_skip_68223	11	3774545:3774638:3781768:3781856:3784131:3784163	3781768:3781856	ENSG00000110713.11	ENST00000324932.7,ENST00000397004.4,ENST00000355260.3,ENST00000529379.1,ENST00000359171.4
exon_skip_68225	11	3789810:3789974:3792977:3793158:3794861:3794969	3792977:3793158	ENSG00000110713.11	ENST00000397007.4,ENST00000324932.7,ENST00000397004.4,ENST00000355260.3,ENST00000359171.4
exon_skip_68231	11	3793004:3793158:3794861:3794969:3797111:3797251	3794861:3794969	ENSG00000110713.11	ENST00000397007.4,ENST00000324932.7,ENST00000397004.4,ENST00000355260.3,ENST00000359171.4
exon_skip_68232	11	3794861:3794969:3797111:3797251:3800102:3800279	3797111:3797251	ENSG00000110713.11	ENST00000397007.4,ENST00000324932.7,ENST00000397004.4,ENST00000355260.3,ENST00000359171.4
exon_skip_68233	11	3800213:3800279:3800385:3800487:3803271:3803375	3800385:3800487	ENSG00000110713.11	ENST00000397007.4,ENST00000532475.1,ENST00000324932.7,ENST00000397004.4,ENST00000355260.3,ENST00000359171.4
exon_skip_68234	11	3800385:3800487:3803271:3803375:3818629:3818688	3803271:3803375	ENSG00000110713.11	ENST00000397007.4,ENST00000532475.1,ENST00000324932.7,ENST00000397004.4,ENST00000355260.3,ENST00000359171.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NUP98

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_68189	11	3697738:3697850:3700783:3700938:3704429:3704577	3700783:3700938	ENSG00000110713.11	ENST00000324932.7,ENST00000355260.3,ENST00000429801.1
exon_skip_68192	11	3700867:3700938:3704429:3704671:3707202:3707424	3704429:3704671	ENSG00000110713.11	ENST00000324932.7,ENST00000429801.1
exon_skip_68193	11	3700867:3700938:3704429:3704671:3712576:3712719	3704429:3704671	ENSG00000110713.11	ENST00000359171.4,ENST00000355260.3
exon_skip_68197	11	3704429:3704671:3707202:3707424:3712576:3712719	3707202:3707424	ENSG00000110713.11	ENST00000324932.7,ENST00000429801.1
exon_skip_68198	11	3704429:3704671:3707293:3707424:3712576:3712719	3707293:3707424	ENSG00000110713.11	ENST00000524563.1
exon_skip_68199	11	3707293:3707424:3712576:3712719:3714461:3714605	3712576:3712719	ENSG00000110713.11	ENST00000324932.7,ENST00000429801.1,ENST00000524563.1
exon_skip_68200	11	3712576:3712719:3714461:3714605:3716678:3716788	3714461:3714605	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000429801.1,ENST00000524563.1
exon_skip_68202	11	3716748:3716836:3720311:3720578:3723692:3723881	3720311:3720578	ENSG00000110713.11	ENST00000529063.1
exon_skip_68206	11	3720311:3720578:3721839:3722069:3723692:3723881	3721839:3722069	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3
exon_skip_68209	11	3721839:3722069:3723692:3724122:3726429:3726586	3723692:3724122	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3
exon_skip_68210	11	3721839:3722069:3724001:3724122:3726429:3726586	3724001:3724122	ENSG00000110713.11	ENST00000429801.1
exon_skip_68212	11	3724001:3724122:3726429:3726586:3727674:3727765	3726429:3726586	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000429801.1
exon_skip_68215	11	3727674:3727857:3733793:3733958:3735047:3735225	3733793:3733958	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3
exon_skip_68216	11	3735047:3735225:3740641:3740780:3741941:3742055	3740641:3740780	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000397004.4,ENST00000397007.4
exon_skip_68217	11	3740717:3740780:3741941:3742055:3744386:3744685	3741941:3742055	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000397004.4,ENST00000397007.4
exon_skip_68218	11	3744386:3744685:3746332:3746449:3752620:3752808	3746332:3746449	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000397004.4,ENST00000397007.4
exon_skip_68219	11	3746332:3746449:3752620:3752808:3756420:3756554	3752620:3752808	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000397004.4,ENST00000397007.4,ENST00000527104.1
exon_skip_68220	11	3756420:3756554:3765738:3765879:3774545:3774638	3765738:3765879	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000397004.4,ENST00000397007.4,ENST00000527104.1,ENST00000397013.2
exon_skip_68221	11	3774545:3774638:3781617:3781856:3784131:3784163	3781617:3781856	ENSG00000110713.11	ENST00000397013.2
exon_skip_68222	11	3774545:3774638:3781717:3781856:3784131:3784163	3781717:3781856	ENSG00000110713.11	ENST00000397007.4
exon_skip_68223	11	3774545:3774638:3781768:3781856:3784131:3784163	3781768:3781856	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000397004.4,ENST00000529379.1
exon_skip_68225	11	3789810:3789974:3792977:3793158:3794861:3794969	3792977:3793158	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000397004.4,ENST00000397007.4
exon_skip_68231	11	3793004:3793158:3794861:3794969:3797111:3797251	3794861:3794969	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000397004.4,ENST00000397007.4
exon_skip_68232	11	3794861:3794969:3797111:3797251:3800102:3800279	3797111:3797251	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000397004.4,ENST00000397007.4
exon_skip_68233	11	3800213:3800279:3800385:3800487:3803271:3803375	3800385:3800487	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000397004.4,ENST00000397007.4,ENST00000532475.1
exon_skip_68234	11	3800385:3800487:3803271:3803375:3818629:3818688	3803271:3803375	ENSG00000110713.11	ENST00000324932.7,ENST00000359171.4,ENST00000355260.3,ENST00000397004.4,ENST00000397007.4,ENST00000532475.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for NUP98

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
ENST00000359171	3803271	3803375	3UTR-3CDS
ENST00000359171	3704429	3704671	Frame-shift
ENST00000359171	3721839	3722069	Frame-shift
ENST00000359171	3723692	3724122	Frame-shift
ENST00000359171	3726429	3726586	Frame-shift
ENST00000359171	3740641	3740780	Frame-shift
ENST00000359171	3752620	3752808	Frame-shift
ENST00000359171	3781768	3781856	Frame-shift
ENST00000359171	3792977	3793158	Frame-shift
ENST00000359171	3797111	3797251	Frame-shift
ENST00000359171	3714461	3714605	In-frame
ENST00000359171	3733793	3733958	In-frame
ENST00000359171	3741941	3742055	In-frame
ENST00000359171	3746332	3746449	In-frame
ENST00000359171	3765738	3765879	In-frame
ENST00000359171	3794861	3794969	In-frame
ENST00000359171	3800385	3800487	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
ENST00000359171	3803271	3803375	3UTR-3CDS
ENST00000359171	3704429	3704671	Frame-shift
ENST00000359171	3721839	3722069	Frame-shift
ENST00000359171	3723692	3724122	Frame-shift
ENST00000359171	3726429	3726586	Frame-shift
ENST00000359171	3740641	3740780	Frame-shift
ENST00000359171	3752620	3752808	Frame-shift
ENST00000359171	3781768	3781856	Frame-shift
ENST00000359171	3792977	3793158	Frame-shift
ENST00000359171	3797111	3797251	Frame-shift
ENST00000359171	3714461	3714605	In-frame
ENST00000359171	3733793	3733958	In-frame
ENST00000359171	3741941	3742055	In-frame
ENST00000359171	3746332	3746449	In-frame
ENST00000359171	3765738	3765879	In-frame
ENST00000359171	3794861	3794969	In-frame
ENST00000359171	3800385	3800487	In-frame

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Infer the effects of exon skipping event on protein functional features for NUP98

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
ENST00000359171	6787	1817	3800385	3800487	498	599	25	59
ENST00000359171	6787	1817	3794861	3794969	917	1024	165	201
ENST00000359171	6787	1817	3765738	3765879	1689	1829	422	469
ENST00000359171	6787	1817	3746332	3746449	2152	2268	577	615
ENST00000359171	6787	1817	3741941	3742055	2568	2681	715	753
ENST00000359171	6787	1817	3733793	3733958	2999	3163	859	914
ENST00000359171	6787	1817	3714461	3714605	4589	4732	1389	1437

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
ENST00000359171	6787	1817	3800385	3800487	498	599	25	59
ENST00000359171	6787	1817	3794861	3794969	917	1024	165	201
ENST00000359171	6787	1817	3765738	3765879	1689	1829	422	469
ENST00000359171	6787	1817	3746332	3746449	2152	2268	577	615
ENST00000359171	6787	1817	3741941	3742055	2568	2681	715	753
ENST00000359171	6787	1817	3733793	3733958	2999	3163	859	914
ENST00000359171	6787	1817	3714461	3714605	4589	4732	1389	1437

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

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

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

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

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SNVs in the skipped exons for NUP98

- 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.

NUP98_LIHC_exon_skip_68197_psi_boxplot.png
boxplot

NUP98_LIHC_exon_skip_68198_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-DD-A1EG-01	exon_skip_68189	3700784	3700938	3700804	3700804	Frame_Shift_Del	T	-	p.M1685fs
LIHC	TCGA-DD-A3A0-01	exon_skip_68200	3714462	3714605	3714491	3714491	Frame_Shift_Del	C	-	p.A1428fs
LIHC	TCGA-DD-A1EG-01	exon_skip_68202	3720312	3720578	3720389	3720389	Frame_Shift_Del	T	-	p.N1311fs
LIHC	TCGA-DD-A39Y-01	exon_skip_68202	3720312	3720578	3720389	3720389	Frame_Shift_Del	T	-	p.N1311fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_68202	3720312	3720578	3720389	3720389	Frame_Shift_Del	T	-	p.N1311fs
LIHC	TCGA-DD-A3A0-01	exon_skip_68202	3720312	3720578	3720396	3720396	Frame_Shift_Del	G	-	p.Q1309fs
LIHC	TCGA-DD-A39Y-01	exon_skip_68206	3721840	3722069	3722033	3722033	Frame_Shift_Del	T	-	p.K1183fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_68209	3723693	3724122	3723725	3723725	Frame_Shift_Del	A	-	p.F1160fs
LIHC	TCGA-DD-A3A0-01	exon_skip_68209	3723693	3724122	3723866	3723866	Frame_Shift_Del	T	-	p.K1113fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_68209	3723693	3724122	3724082	3724082	Frame_Shift_Del	A	-	p.F1041fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_68210	3724002	3724122	3724082	3724082	Frame_Shift_Del	A	-	p.F1041fs
LIHC	TCGA-DD-A1EG-01	exon_skip_68212	3726430	3726586	3726487	3726487	Frame_Shift_Del	T	-	p.I1009fs
LIHC	TCGA-DD-A1EG-01	exon_skip_68215	3733794	3733958	3733882	3733882	Frame_Shift_Del	T	-	p.K886fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_68215	3733794	3733958	3733882	3733882	Frame_Shift_Del	T	-	p.K886fs
LIHC	TCGA-DD-A3A0-01	exon_skip_68216	3740642	3740780	3740668	3740668	Frame_Shift_Del	T	-	p.K791fs
LIHC	TCGA-DD-A1EG-01	exon_skip_68217	3741942	3742055	3741982	3741982	Frame_Shift_Del	T	-	p.K740fs
LIHC	TCGA-DD-A1EG-01	exon_skip_68217	3741942	3742055	3741996	3741996	Frame_Shift_Del	T	-	p.I736fs
LIHC	TCGA-DD-A1EG-01	exon_skip_68218	3746333	3746449	3746418	3746418	Frame_Shift_Del	G	-	p.L588fs
BRCA	TCGA-A2-A0T0-01	exon_skip_68219	3752621	3752808	3752719	3752725	Frame_Shift_Del	CCGGACT	-	p.R542fs
LIHC	TCGA-DD-A1EG-01	exon_skip_68220	3765739	3765879	3765751	3765751	Frame_Shift_Del	G	-	p.Q466fs
LIHC	TCGA-DD-A3A0-01	exon_skip_68220	3765739	3765879	3765751	3765751	Frame_Shift_Del	G	-	p.Q466fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_68225	3792978	3793158	3793118	3793118	Frame_Shift_Del	G	-	p.P215fs
KICH	TCGA-KO-8408-01	exon_skip_68225	3792978	3793158	3793077	3793078	Frame_Shift_Ins	-	A	p.F228fs
STAD	TCGA-F1-6874-01	exon_skip_68232	3797112	3797251	3797186	3797187	Frame_Shift_Ins	-	A	p.G141fs
STAD	TCGA-F1-6874-01	exon_skip_68232	3797112	3797251	3797187	3797188	Frame_Shift_Ins	-	A	p.F140fs
UCEC	TCGA-B5-A1MU-01	exon_skip_68198 exon_skip_68197	3707203	3707424	3707393	3707393	Nonsense_Mutation	G	A	p.R1496*
UCEC	TCGA-B5-A1MU-01	exon_skip_68198 exon_skip_68197	3707294	3707424	3707393	3707393	Nonsense_Mutation	G	A	p.R1496*
UCEC	TCGA-B5-A11N-01	exon_skip_68199	3712577	3712719	3712617	3712617	Nonsense_Mutation	G	A	p.R1472*
LUAD	TCGA-97-A4M0-01	exon_skip_68199	3712577	3712719	3712668	3712668	Nonsense_Mutation	C	A	p.E1455*
SKCM	TCGA-ER-A19M-06	exon_skip_68202	3720312	3720578	3720321	3720321	Nonsense_Mutation	G	A	p.Q1334*
SKCM	TCGA-ER-A19M-06	exon_skip_68202	3720312	3720578	3720321	3720321	Nonsense_Mutation	G	A	p.Q1334X
UCEC	TCGA-AP-A056-01	exon_skip_68202	3720312	3720578	3720411	3720411	Nonsense_Mutation	C	A	p.E1304*
STAD	TCGA-BR-7851-01	exon_skip_68202	3720312	3720578	3720468	3720468	Nonsense_Mutation	G	A	p.R1285*
STAD	TCGA-BR-7851-01	exon_skip_68202	3720312	3720578	3720468	3720468	Nonsense_Mutation	G	A	p.R1285X
UCEC	TCGA-D1-A17Q-01	exon_skip_68209	3723693	3724122	3723763	3723763	Nonsense_Mutation	C	A	p.E1148*
UCEC	TCGA-BS-A0UF-01	exon_skip_68231	3794862	3794969	3794885	3794885	Nonsense_Mutation	C	A	p.E194*
LIHC	TCGA-NI-A4U2-01	exon_skip_68198 exon_skip_68197	3707203	3707424	3707425	3707425	Splice_Site	C	G	.
LIHC	TCGA-NI-A4U2-01	exon_skip_68198 exon_skip_68197	3707294	3707424	3707425	3707425	Splice_Site	C	G	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-NI-A4U2-01
	Cancer type: LIHC
	ESID: exon_skip_68197
	Skipped exon start: 3707294
	Skipped exon end: 3707424
	Mutation start: 3707425
	Mutation end: 3707425
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: G
	AAchange: .
	Sample: TCGA-NI-A4U2-01
	Cancer type: LIHC
	ESID: exon_skip_68197
	Skipped exon start: 3707203
	Skipped exon end: 3707424
	Mutation start: 3707425
	Mutation end: 3707425
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: G
	AAchange: .
exon_skip_68197_LIHC_TCGA-NI-A4U2-01.png
exon_skip_68198_LIHC_TCGA-NI-A4U2-01.png
	Sample: TCGA-NI-A4U2-01
	Cancer type: LIHC
	ESID: exon_skip_68197
	Skipped exon start: 3707294
	Skipped exon end: 3707424
	Mutation start: 3707425
	Mutation end: 3707425
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: G
	AAchange: .
	Sample: TCGA-NI-A4U2-01
	Cancer type: LIHC
	ESID: exon_skip_68197
	Skipped exon start: 3707203
	Skipped exon end: 3707424
	Mutation start: 3707425
	Mutation end: 3707425
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: G
	AAchange: .
exon_skip_68197_LIHC_TCGA-NI-A4U2-01.png
exon_skip_68198_LIHC_TCGA-NI-A4U2-01.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
HLE_LIVER	3704430	3704671	3704637	3704637	Frame_Shift_Del	G	-	p.R1571fs
HLF_LIVER	3704430	3704671	3704637	3704637	Frame_Shift_Del	G	-	p.R1571fs
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3720312	3720578	3720389	3720389	Frame_Shift_Del	T	-	p.N1311fs
SNU1_STOMACH	3720312	3720578	3720389	3720389	Frame_Shift_Del	T	-	p.N1311fs
HEC6_ENDOMETRIUM	3720312	3720578	3720492	3720492	Frame_Shift_Del	G	-	p.R1277fs
CL34_LARGE_INTESTINE	3765739	3765879	3765751	3765751	Frame_Shift_Del	G	-	p.Q466fs
REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3765739	3765879	3765771	3765772	Frame_Shift_Del	GT	-	p.T459fs
FUOV1_OVARY	3797112	3797251	3797219	3797222	Frame_Shift_Del	AGAG	-	p.LF129fs
SNUC4_LARGE_INTESTINE	3733794	3733958	3733905	3733907	In_Frame_Del	CTC	-	p.E877del
NB1643_AUTONOMIC_GANGLIA	3746333	3746449	3746406	3746408	In_Frame_Del	TGC	-	p.S591del
PWR1E_PROSTATE	3746333	3746449	3746406	3746408	In_Frame_Del	TGC	-	p.S591del
SW48_LARGE_INTESTINE	3700784	3700938	3700848	3700848	Missense_Mutation	T	C	p.E1670G
TMK1_STOMACH	3700784	3700938	3700872	3700872	Missense_Mutation	C	T	p.R1662H
HCC1187_BREAST	3700784	3700938	3700902	3700902	Missense_Mutation	C	A	p.G1652V
MCC13_SKIN	3700784	3700938	3700911	3700911	Missense_Mutation	T	G	p.Y1649S
PACADD137_PANCREAS	3704430	3704671	3704553	3704553	Missense_Mutation	T	C	p.I1599V
MCC13_SKIN	3704430	3704671	3704649	3704649	Missense_Mutation	C	T	p.E1567K
T3M10_LUNG	3704430	3704671	3704666	3704666	Missense_Mutation	C	A	p.R1561L
HGC27_STOMACH	3707203	3707424	3707228	3707228	Missense_Mutation	C	A	p.V1551F
HEC1_ENDOMETRIUM	3714462	3714605	3714548	3714548	Missense_Mutation	G	A	p.R1409C
NCIBL2052_MATCHED_NORMAL_TISSUE	3720312	3720578	3720371	3720371	Missense_Mutation	A	C	p.V1317G
22RV1_PROSTATE	3720312	3720578	3720447	3720447	Missense_Mutation	A	G	p.W1292R
MDAMB453_BREAST	3720312	3720578	3720480	3720480	Missense_Mutation	G	T	p.Q1281K
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3721840	3722069	3721856	3721856	Missense_Mutation	G	C	p.D1242E
SKMG1_CENTRAL_NERVOUS_SYSTEM	3721840	3722069	3721939	3721939	Missense_Mutation	C	T	p.E1215K
HMC18_BREAST	3723693	3724122	3723714	3723714	Missense_Mutation	G	T	p.P1164H
RERFLCMS_LUNG	3723693	3724122	3723714	3723714	Missense_Mutation	G	T	p.P1164H
TMK1_STOMACH	3723693	3724122	3723714	3723714	Missense_Mutation	G	T	p.P1164H
SNU8_OVARY	3723693	3724122	3723771	3723771	Missense_Mutation	C	G	p.G1145A
639V_URINARY_TRACT	3723693	3724122	3723840	3723840	Missense_Mutation	A	G	p.M1122T
HEC6_ENDOMETRIUM	3723693	3724122	3723850	3723850	Missense_Mutation	C	T	p.A1119T
SNU407_LARGE_INTESTINE	3723693	3724122	3723904	3723904	Missense_Mutation	C	T	p.V1101I
SCS214_SOFT_TISSUE	3723693	3724122	3723921	3723921	Missense_Mutation	C	T	p.R1095H
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3723693	3724122	3723971	3723971	Missense_Mutation	G	C	p.F1078L
OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3723693	3724122	3723971	3723971	Missense_Mutation	G	C	p.F1078L
NCIH196_LUNG	3723693	3724122	3723976	3723976	Missense_Mutation	C	T	p.V1077M
A388_SKIN	3723693	3724122	3724023	3724023	Missense_Mutation	T	G	p.N1061T
A388_SKIN	3724002	3724122	3724023	3724023	Missense_Mutation	T	G	p.N1061T
MM127_SKIN	3726430	3726586	3726528	3726528	Missense_Mutation	C	T	p.R995H
M059J_CENTRAL_NERVOUS_SYSTEM	3733794	3733958	3733838	3733838	Missense_Mutation	G	A	p.P900S
M059K_CENTRAL_NERVOUS_SYSTEM	3733794	3733958	3733838	3733838	Missense_Mutation	G	A	p.P900S
CHL1_SKIN	3733794	3733958	3733922	3733922	Missense_Mutation	C	T	p.D872N
HMCB_SKIN	3733794	3733958	3733922	3733922	Missense_Mutation	C	T	p.D872N
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3740642	3740780	3740663	3740663	Missense_Mutation	G	T	p.P793H
SNU489_CENTRAL_NERVOUS_SYSTEM	3741942	3742055	3741986	3741986	Missense_Mutation	T	G	p.E739A
TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3741942	3742055	3741986	3741986	Missense_Mutation	T	G	p.E739A
ACN_AUTONOMIC_GANGLIA	3741942	3742055	3742050	3742050	Missense_Mutation	T	A	p.I718F
KPNYN_AUTONOMIC_GANGLIA	3741942	3742055	3742050	3742050	Missense_Mutation	T	A	p.I718F
MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3752621	3752808	3752690	3752690	Missense_Mutation	G	A	p.A554V
SNU1040_LARGE_INTESTINE	3752621	3752808	3752696	3752696	Missense_Mutation	C	T	p.G552D
COV504_OVARY	3765739	3765879	3765744	3765744	Missense_Mutation	G	A	p.P468L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3765739	3765879	3765771	3765771	Missense_Mutation	G	A	p.T459I
NUGC3_STOMACH	3765739	3765879	3765780	3765780	Missense_Mutation	G	A	p.T456M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3765739	3765879	3765781	3765781	Missense_Mutation	T	A	p.T456S
8MGBA_CENTRAL_NERVOUS_SYSTEM	3765739	3765879	3765798	3765798	Missense_Mutation	G	A	p.A450V
D336MG_CENTRAL_NERVOUS_SYSTEM	3765739	3765879	3765816	3765816	Missense_Mutation	C	T	p.G444D
PFSK1_CENTRAL_NERVOUS_SYSTEM	3765739	3765879	3765817	3765817	Missense_Mutation	C	A	p.G444C
MFE319_ENDOMETRIUM	3781718	3781856	3781852	3781852	Missense_Mutation	A	G	p.L364P
MFE319_ENDOMETRIUM	3781769	3781856	3781852	3781852	Missense_Mutation	A	G	p.L364P
MFE319_ENDOMETRIUM	3781618	3781856	3781852	3781852	Missense_Mutation	A	G	p.L364P
BICR18_UPPER_AERODIGESTIVE_TRACT	3792978	3793158	3793011	3793011	Missense_Mutation	C	A	p.A251S
BICR18_UPPER_AERODIGESTIVE_TRACT	3792978	3793158	3793016	3793016	Missense_Mutation	C	G	p.G249A
KYSE510_OESOPHAGUS	3792978	3793158	3793068	3793068	Missense_Mutation	G	A	p.P232S
GP2D_LARGE_INTESTINE	3792978	3793158	3793122	3793122	Missense_Mutation	C	T	p.G214S
HT115_LARGE_INTESTINE	3792978	3793158	3793152	3793152	Missense_Mutation	G	A	p.R204C
IALM_LUNG	3794862	3794969	3794891	3794891	Missense_Mutation	T	C	p.M192V
LNCAPCLONEFGC_PROSTATE	3794862	3794969	3794929	3794929	Missense_Mutation	C	T	p.S179N
MFE319_ENDOMETRIUM	3797112	3797251	3797131	3797131	Missense_Mutation	C	T	p.G159E
NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3803272	3803375	3803290	3803290	Missense_Mutation	T	C	p.T20A
HCC2450_LUNG	3700784	3700938	3700858	3700858	Nonsense_Mutation	G	A	p.Q1667*
SNUC2A_LARGE_INTESTINE	3704430	3704671	3704445	3704445	Nonsense_Mutation	G	A	p.R1635*
SNUC2B_LARGE_INTESTINE	3704430	3704671	3704445	3704445	Nonsense_Mutation	G	A	p.R1635*
HT115_LARGE_INTESTINE	3704430	3704671	3704652	3704652	Nonsense_Mutation	G	A	p.R1566*
NCIH196_LUNG	3723693	3724122	3723693	3723693	Splice_Site	G	C	p.P1171R
BICR18_UPPER_AERODIGESTIVE_TRACT	3740642	3740780	3740779	3740779	Splice_Site	A	T	p.G754G
BICR18_UPPER_AERODIGESTIVE_TRACT	3781718	3781856	3781770	3781770	Splice_Site	A	G	p.F391F
BICR18_UPPER_AERODIGESTIVE_TRACT	3781769	3781856	3781770	3781770	Splice_Site	A	G	p.F391F
BICR18_UPPER_AERODIGESTIVE_TRACT	3781618	3781856	3781770	3781770	Splice_Site	A	G	p.F391F
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3781718	3781856	3781770	3781770	Splice_Site	A	G	p.F391F
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3781769	3781856	3781770	3781770	Splice_Site	A	G	p.F391F
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3781618	3781856	3781770	3781770	Splice_Site	A	G	p.F391F
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3781718	3781856	3781770	3781770	Splice_Site	A	G	p.F391F
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3781769	3781856	3781770	3781770	Splice_Site	A	G	p.F391F
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3781618	3781856	3781770	3781770	Splice_Site	A	G	p.F391F

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NUP98

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 NUP98

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NUP98

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RelatedDrugs for NUP98

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 NUP98

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
NUP98	C0023467	Leukemia, Myelocytic, Acute	1	CTD_human

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

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