ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NUP153

Gene summary

Gene information	Gene symbol	NUP153
	Gene ID	9972
	Gene name	nucleoporin 153
	Synonyms	HNUP153\|N153
	Cytomap	6p22.3
	Type of gene	protein-coding
	Description	nuclear pore complex protein Nup153153 kDa nucleoporinnuclear pore complex protein hnup153nucleoporin 153kDnucleoporin 153kDanucleoporin Nup153
	Modification date	20180527
	UniProtAcc	P49790
	Context	PubMed: NUP153 [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
NUP153	GO:0046832	negative regulation of RNA export from nucleus	22253824

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Exon skipping events across known transcript of Ensembl for NUP153 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 NUP153

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 NUP153

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_456423	6	17616757:17616926:17624791:17625064:17626038:17626395	17624791:17625064	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456430	6	17624791:17625064:17626038:17626395:17628885:17629311	17626038:17626395	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456439	6	17629626:17629770:17632880:17633075:17637383:17638001	17632880:17633075	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456442	6	17637383:17638001:17640169:17640295:17646297:17646385	17640169:17640295	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456443	6	17640169:17640295:17646297:17646385:17648037:17648136	17646297:17646385	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456444	6	17646297:17646385:17648037:17648136:17649393:17649531	17648037:17648136	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456447	6	17649393:17649531:17652064:17652157:17661883:17661951	17652064:17652157	ENSG00000124789.7	ENST00000537253.1
exon_skip_456449	6	17662248:17662301:17665469:17665616:17669205:17669259	17665469:17665616	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456452	6	17665469:17665616:17669205:17669259:17669523:17669568	17669205:17669259	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NUP153

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_456423	6	17616757:17616926:17624791:17625064:17626038:17626395	17624791:17625064	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456430	6	17624791:17625064:17626038:17626395:17628885:17629311	17626038:17626395	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456439	6	17629626:17629770:17632880:17633075:17637383:17638001	17632880:17633075	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456442	6	17637383:17638001:17640169:17640295:17646297:17646385	17640169:17640295	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456443	6	17640169:17640295:17646297:17646385:17648037:17648136	17646297:17646385	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456444	6	17646297:17646385:17648037:17648136:17649393:17649531	17648037:17648136	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456447	6	17649393:17649531:17652064:17652157:17661883:17661951	17652064:17652157	ENSG00000124789.7	ENST00000537253.1
exon_skip_456449	6	17662248:17662301:17665469:17665616:17669205:17669259	17665469:17665616	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1
exon_skip_456452	6	17665469:17665616:17669205:17669259:17669523:17669568	17669205:17669259	ENSG00000124789.7	ENST00000262077.2,ENST00000537253.1

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 NUP153

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
ENST00000262077	17646297	17646385	Frame-shift
ENST00000262077	17624791	17625064	In-frame
ENST00000262077	17626038	17626395	In-frame
ENST00000262077	17632880	17633075	In-frame
ENST00000262077	17640169	17640295	In-frame
ENST00000262077	17648037	17648136	In-frame
ENST00000262077	17665469	17665616	In-frame
ENST00000262077	17669205	17669259	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
ENST00000262077	17646297	17646385	Frame-shift
ENST00000262077	17624791	17625064	In-frame
ENST00000262077	17626038	17626395	In-frame
ENST00000262077	17632880	17633075	In-frame
ENST00000262077	17640169	17640295	In-frame
ENST00000262077	17648037	17648136	In-frame
ENST00000262077	17665469	17665616	In-frame
ENST00000262077	17669205	17669259	In-frame

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Infer the effects of exon skipping event on protein functional features for NUP153

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
ENST00000262077	5504	1475	17669205	17669259	1015	1068	338	356
ENST00000262077	5504	1475	17665469	17665616	1069	1215	356	405
ENST00000262077	5504	1475	17648037	17648136	1534	1632	511	544
ENST00000262077	5504	1475	17640169	17640295	1721	1846	573	615
ENST00000262077	5504	1475	17632880	17633075	2465	2659	821	886
ENST00000262077	5504	1475	17626038	17626395	3545	3901	1181	1300
ENST00000262077	5504	1475	17624791	17625064	3902	4174	1300	1391

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
ENST00000262077	5504	1475	17669205	17669259	1015	1068	338	356
ENST00000262077	5504	1475	17665469	17665616	1069	1215	356	405
ENST00000262077	5504	1475	17648037	17648136	1534	1632	511	544
ENST00000262077	5504	1475	17640169	17640295	1721	1846	573	615
ENST00000262077	5504	1475	17632880	17633075	2465	2659	821	886
ENST00000262077	5504	1475	17626038	17626395	3545	3901	1181	1300
ENST00000262077	5504	1475	17624791	17625064	3902	4174	1300	1391

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
P49790	338	356	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	338	356	353	353	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25114211,ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25114211,PMID:25218447,PMI
P49790	338	356	338	338	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:18669648,ECO:0
P49790	338	356	343	343	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
P49790	356	405	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	356	405	369	369	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
P49790	356	405	384	384	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P49790	356	405	388	388	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P49790	356	405	381	381	Natural variant	ID=VAR_070841;Note=V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs17857419,PMID:15489334
P49790	356	405	402	402	Natural variant	ID=VAR_046556;Note=N->K;Dbxref=dbSNP:rs6906499
P49790	511	544	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	511	544	534	534	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20068230;Dbxref=PMID:20068230
P49790	511	544	544	544	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20068230;Dbxref=PMID:20068230
P49790	511	544	516	516	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163
P49790	511	544	518	518	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P49790	511	544	522	522	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
P49790	511	544	529	529	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P49790	573	615	574	615	Alternative sequence	ID=VSP_054265;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
P49790	573	615	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	573	615	588	588	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:17081983;Dbxref=PMID:17081983
P49790	573	615	607	607	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P49790	573	615	614	614	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163
P49790	821	886	858	860	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	872	874	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	821	886	857	857	Metal binding	Note=Zinc 4;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	860	860	Metal binding	Note=Zinc 4;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	871	871	Metal binding	Note=Zinc 4;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	874	874	Metal binding	Note=Zinc 4;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	821	821	Natural variant	ID=VAR_046557;Note=P->L;Dbxref=dbSNP:rs6905654
P49790	821	886	827	827	Natural variant	ID=VAR_046558;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs2274136,PMID:14702039
P49790	821	886	836	836	Sequence conflict	Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
P49790	821	886	793	822	Zinc finger	Note=RanBP2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00322
P49790	821	886	851	880	Zinc finger	Note=RanBP2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00322
P49790	1181	1300	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	1300	1391	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	1300	1391	1388	1388	Natural variant	ID=VAR_046559;Note=T->A;Dbxref=dbSNP:rs2228379

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
P49790	338	356	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	338	356	353	353	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25114211,ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25114211,PMID:25218447,PMI
P49790	338	356	338	338	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:18669648,ECO:0
P49790	338	356	343	343	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
P49790	356	405	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	356	405	369	369	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
P49790	356	405	384	384	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P49790	356	405	388	388	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P49790	356	405	381	381	Natural variant	ID=VAR_070841;Note=V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs17857419,PMID:15489334
P49790	356	405	402	402	Natural variant	ID=VAR_046556;Note=N->K;Dbxref=dbSNP:rs6906499
P49790	511	544	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	511	544	534	534	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20068230;Dbxref=PMID:20068230
P49790	511	544	544	544	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20068230;Dbxref=PMID:20068230
P49790	511	544	516	516	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163
P49790	511	544	518	518	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P49790	511	544	522	522	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
P49790	511	544	529	529	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P49790	573	615	574	615	Alternative sequence	ID=VSP_054265;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
P49790	573	615	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	573	615	588	588	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:17081983;Dbxref=PMID:17081983
P49790	573	615	607	607	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P49790	573	615	614	614	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163
P49790	821	886	858	860	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	872	874	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	821	886	857	857	Metal binding	Note=Zinc 4;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	860	860	Metal binding	Note=Zinc 4;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	871	871	Metal binding	Note=Zinc 4;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	874	874	Metal binding	Note=Zinc 4;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EBR
P49790	821	886	821	821	Natural variant	ID=VAR_046557;Note=P->L;Dbxref=dbSNP:rs6905654
P49790	821	886	827	827	Natural variant	ID=VAR_046558;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs2274136,PMID:14702039
P49790	821	886	836	836	Sequence conflict	Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
P49790	821	886	793	822	Zinc finger	Note=RanBP2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00322
P49790	821	886	851	880	Zinc finger	Note=RanBP2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00322
P49790	1181	1300	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	1300	1391	2	1475	Chain	ID=PRO_0000204842;Note=Nuclear pore complex protein Nup153
P49790	1300	1391	1388	1388	Natural variant	ID=VAR_046559;Note=T->A;Dbxref=dbSNP:rs2228379

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SNVs in the skipped exons for NUP153

- 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-A3A0-01	exon_skip_456423	17624792	17625064	17624851	17624851	Frame_Shift_Del	G	-	p.P1372fs
LIHC	TCGA-DD-A1EG-01	exon_skip_456423	17624792	17625064	17624910	17624910	Frame_Shift_Del	G	-	p.P1352fs
LIHC	TCGA-DD-A39Y-01	exon_skip_456430	17626039	17626395	17626365	17626365	Frame_Shift_Del	A	-	p.F1192fs
STAD	TCGA-BR-4184-01	exon_skip_456442	17640170	17640295	17640225	17640225	Frame_Shift_Del	A	-	p.R598fs
LIHC	TCGA-DD-A3A0-01	exon_skip_456444	17648038	17648136	17648088	17648088	Frame_Shift_Del	A	-	p.S529fs
LIHC	TCGA-DD-A1EG-01	exon_skip_456449	17665470	17665616	17665533	17665533	Frame_Shift_Del	T	-	p.K384fs
LIHC	TCGA-DD-A1EG-01	exon_skip_456449	17665470	17665616	17665533	17665533	Frame_Shift_Del	T	-	p.P385fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_456449	17665470	17665616	17665541	17665541	Frame_Shift_Del	A	-	p.Y382fs
STAD	TCGA-BR-6452-01	exon_skip_456423	17624792	17625064	17624851	17624852	Frame_Shift_Ins	-	G	p.P1372fs
HNSC	TCGA-TN-A7HL-01	exon_skip_456430	17626039	17626395	17626393	17626393	Nonsense_Mutation	G	A	p.Q1183*
THYM	TCGA-X7-A8DD-01	exon_skip_456439	17632881	17633075	17632953	17632953	Nonsense_Mutation	G	A	p.Q863X
ESCA	TCGA-JY-A93D-01	exon_skip_456439	17632881	17633075	17633076	17633076	Splice_Site	C	A	e18-1
COAD	TCGA-G4-6303-01	exon_skip_456439	17632881	17633075	17633077	17633078	Splice_Site	-	A	.
SARC	TCGA-3B-A9HY-01	exon_skip_456439	17632881	17633075	17633077	17633078	Splice_Site	-	A	e18-2

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

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
DBTRG05MG_CENTRAL_NERVOUS_SYSTEM	17624792	17625064	17624884	17624884	Missense_Mutation	G	A	p.T1361I
ISTMEL1_SKIN	17624792	17625064	17624936	17624936	Missense_Mutation	T	G	p.I1344L
ECGI10_OESOPHAGUS	17624792	17625064	17624938	17624938	Missense_Mutation	G	A	p.S1343F
SNU620_STOMACH	17624792	17625064	17624992	17624992	Missense_Mutation	G	A	p.P1325L
EFO21_OVARY	17624792	17625064	17625001	17625001	Missense_Mutation	T	C	p.N1322S
HS944T_SKIN	17626039	17626395	17626110	17626110	Missense_Mutation	G	A	p.P1277L
NCIH2170_LUNG	17626039	17626395	17626161	17626161	Missense_Mutation	A	G	p.L1260P
KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17626039	17626395	17626225	17626225	Missense_Mutation	C	A	p.A1239S
TE1_OESOPHAGUS	17626039	17626395	17626230	17626230	Missense_Mutation	C	T	p.S1237N
NCIH1048_LUNG	17626039	17626395	17626260	17626260	Missense_Mutation	A	T	p.V1227E
BICR18_UPPER_AERODIGESTIVE_TRACT	17626039	17626395	17626356	17626356	Missense_Mutation	T	C	p.N1195S
HCT15_LARGE_INTESTINE	17626039	17626395	17626390	17626390	Missense_Mutation	C	A	p.G1184C
HRT18_LARGE_INTESTINE	17626039	17626395	17626390	17626390	Missense_Mutation	C	A	p.G1184C
HEC6_ENDOMETRIUM	17632881	17633075	17632894	17632894	Missense_Mutation	T	G	p.K882N
SNU81_LARGE_INTESTINE	17632881	17633075	17632901	17632901	Missense_Mutation	C	T	p.G880D
NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17632881	17633075	17632928	17632928	Missense_Mutation	C	T	p.C871Y
647V_URINARY_TRACT	17632881	17633075	17633057	17633057	Missense_Mutation	G	A	p.S828L
CHLA57_BONE	17646298	17646385	17646376	17646376	Missense_Mutation	T	A	p.T548S
HCC1428_BREAST	17665470	17665616	17665475	17665475	Missense_Mutation	A	C	p.C404G
SNU1041_UPPER_AERODIGESTIVE_TRACT	17665470	17665616	17665562	17665562	Missense_Mutation	T	C	p.I375V
ESS1_ENDOMETRIUM	17665470	17665616	17665607	17665607	Missense_Mutation	G	C	p.Q360E
MFE319_ENDOMETRIUM	17665470	17665616	17665470	17665470	Splice_Site	A	G	p.S405S
NB14_AUTONOMIC_GANGLIA	17665470	17665616	17665615	17665615	Splice_Site	A	T	p.V357E

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NUP153

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 NUP153

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NUP153

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RelatedDrugs for NUP153

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 NUP153

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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