ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NCSTN

Gene summary

Gene information	Gene symbol	NCSTN
	Gene ID	23385
	Gene name	nicastrin
	Synonyms	ATAG1874
	Cytomap	1q23.2
	Type of gene	protein-coding
	Description	nicastrinanterior pharynx-defective 2
	Modification date	20180523
	UniProtAcc	Q92542
	Context	PubMed: NCSTN [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
NCSTN	GO:0006509	membrane protein ectodomain proteolysis	15274632
NCSTN	GO:0016485	protein processing	15274632
NCSTN	GO:0042982	amyloid precursor protein metabolic process	25043039\|26280335
NCSTN	GO:0043085	positive regulation of catalytic activity	15274632

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Exon skipping events across known transcript of Ensembl for NCSTN 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 NCSTN

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 NCSTN

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_12865	1	160313182:160313271:160313493:160313592:160314511:160314616	160313493:160313592	ENSG00000162736.11	ENST00000438008.1
exon_skip_12866	1	160313182:160313271:160313493:160313678:160314511:160314616	160313493:160313678	ENSG00000162736.11	ENST00000467837.1
exon_skip_12867	1	160313105:160313271:160314265:160314404:160314511:160314616	160314265:160314404	ENSG00000162736.11	ENST00000368063.1
exon_skip_12868	1	160313182:160313271:160314511:160314616:160318788:160318912	160314511:160314616	ENSG00000162736.11	ENST00000421914.1,ENST00000535857.1,ENST00000437169.1
exon_skip_12872	1	160319898:160320040:160321011:160321162:160321485:160321595	160321011:160321162	ENSG00000162736.11	ENST00000368063.1,ENST00000392212.4,ENST00000294785.5
exon_skip_12873	1	160319898:160320040:160321077:160321162:160321485:160321595	160321077:160321162	ENSG00000162736.11	ENST00000424645.1
exon_skip_12875	1	160321485:160321595:160321843:160321996:160322676:160322781	160321843:160321996	ENSG00000162736.11	ENST00000368065.4,ENST00000368063.1,ENST00000424645.1,ENST00000392212.4,ENST00000294785.5,ENST00000459963.1
exon_skip_12877	1	160321485:160321595:160321915:160321996:160322676:160322781	160321915:160321996	ENSG00000162736.11	ENST00000424754.1
exon_skip_12878	1	160321865:160321996:160322676:160322781:160322949:160323015	160322676:160322781	ENSG00000162736.11	ENST00000368065.4,ENST00000368063.1,ENST00000424645.1,ENST00000392212.4,ENST00000424754.1,ENST00000294785.5,ENST00000459963.1
exon_skip_12882	1	160322949:160323027:160323112:160323291:160323907:160324079	160323112:160323291	ENSG00000162736.11	ENST00000459963.1
exon_skip_12884	1	160323907:160324080:160325444:160325547:160325652:160325748	160325444:160325547	ENSG00000162736.11	ENST00000368065.4,ENST00000435149.1,ENST00000368063.1,ENST00000535857.1,ENST00000392212.4,ENST00000294785.5,ENST00000459963.1
exon_skip_12889	1	160325474:160325547:160325652:160325748:160326049:160326137	160325652:160325748	ENSG00000162736.11	ENST00000491390.1,ENST00000368065.4,ENST00000435149.1,ENST00000368063.1,ENST00000535857.1,ENST00000392212.4,ENST00000294785.5,ENST00000459963.1
exon_skip_12894	1	160326049:160326137:160326389:160326544:160326830:160327043	160326389:160326544	ENSG00000162736.11	ENST00000368065.4,ENST00000368063.1,ENST00000535857.1,ENST00000392212.4,ENST00000294785.5
exon_skip_12909	1	160326426:160326544:160326830:160327043:160327938:160328313	160326830:160327043	ENSG00000162736.11	ENST00000368065.4,ENST00000368063.1,ENST00000535857.1,ENST00000392212.4,ENST00000294785.5

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NCSTN

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_12865	1	160313182:160313271:160313493:160313592:160314511:160314616	160313493:160313592	ENSG00000162736.11	ENST00000438008.1
exon_skip_12866	1	160313182:160313271:160313493:160313678:160314511:160314616	160313493:160313678	ENSG00000162736.11	ENST00000467837.1
exon_skip_12867	1	160313105:160313271:160314265:160314404:160314511:160314616	160314265:160314404	ENSG00000162736.11	ENST00000368063.1
exon_skip_12868	1	160313182:160313271:160314511:160314616:160318788:160318912	160314511:160314616	ENSG00000162736.11	ENST00000437169.1,ENST00000421914.1,ENST00000535857.1
exon_skip_12872	1	160319898:160320040:160321011:160321162:160321485:160321595	160321011:160321162	ENSG00000162736.11	ENST00000294785.5,ENST00000368063.1,ENST00000392212.4
exon_skip_12873	1	160319898:160320040:160321077:160321162:160321485:160321595	160321077:160321162	ENSG00000162736.11	ENST00000424645.1
exon_skip_12875	1	160321485:160321595:160321843:160321996:160322676:160322781	160321843:160321996	ENSG00000162736.11	ENST00000294785.5,ENST00000368063.1,ENST00000392212.4,ENST00000459963.1,ENST00000424645.1,ENST00000368065.4
exon_skip_12877	1	160321485:160321595:160321915:160321996:160322676:160322781	160321915:160321996	ENSG00000162736.11	ENST00000424754.1
exon_skip_12878	1	160321865:160321996:160322676:160322781:160322949:160323015	160322676:160322781	ENSG00000162736.11	ENST00000294785.5,ENST00000368063.1,ENST00000392212.4,ENST00000459963.1,ENST00000424645.1,ENST00000368065.4,ENST00000424754.1
exon_skip_12882	1	160322949:160323027:160323112:160323291:160323907:160324079	160323112:160323291	ENSG00000162736.11	ENST00000459963.1
exon_skip_12884	1	160323907:160324080:160325444:160325547:160325652:160325748	160325444:160325547	ENSG00000162736.11	ENST00000294785.5,ENST00000368063.1,ENST00000535857.1,ENST00000392212.4,ENST00000459963.1,ENST00000368065.4,ENST00000435149.1
exon_skip_12889	1	160325474:160325547:160325652:160325748:160326049:160326137	160325652:160325748	ENSG00000162736.11	ENST00000294785.5,ENST00000368063.1,ENST00000535857.1,ENST00000392212.4,ENST00000459963.1,ENST00000368065.4,ENST00000435149.1,ENST00000491390.1
exon_skip_12894	1	160326049:160326137:160326389:160326544:160326830:160327043	160326389:160326544	ENSG00000162736.11	ENST00000294785.5,ENST00000368063.1,ENST00000535857.1,ENST00000392212.4,ENST00000368065.4
exon_skip_12909	1	160326426:160326544:160326830:160327043:160327938:160328313	160326830:160327043	ENSG00000162736.11	ENST00000294785.5,ENST00000368063.1,ENST00000535857.1,ENST00000392212.4,ENST00000368065.4

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 NCSTN

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
ENST00000294785	160321011	160321162	Frame-shift
ENST00000294785	160325444	160325547	Frame-shift
ENST00000294785	160326389	160326544	Frame-shift
ENST00000294785	160321843	160321996	In-frame
ENST00000294785	160322676	160322781	In-frame
ENST00000294785	160325652	160325748	In-frame
ENST00000294785	160326830	160327043	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
ENST00000294785	160321011	160321162	Frame-shift
ENST00000294785	160325444	160325547	Frame-shift
ENST00000294785	160326389	160326544	Frame-shift
ENST00000294785	160321843	160321996	In-frame
ENST00000294785	160322676	160322781	In-frame
ENST00000294785	160325652	160325748	In-frame
ENST00000294785	160326830	160327043	In-frame

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

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
ENST00000294785	2953	709	160321843	160321996	969	1121	281	332
ENST00000294785	2953	709	160322676	160322781	1122	1226	332	367
ENST00000294785	2953	709	160325652	160325748	1581	1676	485	517
ENST00000294785	2953	709	160326830	160327043	1920	2132	598	669

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
ENST00000294785	2953	709	160321843	160321996	969	1121	281	332
ENST00000294785	2953	709	160322676	160322781	1122	1226	332	367
ENST00000294785	2953	709	160325652	160325748	1581	1676	485	517
ENST00000294785	2953	709	160326830	160327043	1920	2132	598	669

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
Q92542	281	332	275	281	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	281	332	287	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	281	332	322	331	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	281	332	34	709	Chain	ID=PRO_0000019681;Note=Nicastrin
Q92542	281	332	299	314	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	281	332	34	669	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305\|PubMed:26280335,ECO:0000305\|PubMed:26776682;Dbxref=PMID:26280335,PMID:26776682
Q92542	281	332	295	298	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	332	367	352	354	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	332	367	359	367	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	332	367	34	709	Chain	ID=PRO_0000019681;Note=Nicastrin
Q92542	332	367	340	349	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	332	367	336	337	Mutagenesis	Note=Increases production of amyloid-beta (beta-APP40 and beta-APP42) in APP processing. DY->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10993067;Dbxref=PMID:10993067
Q92542	332	367	34	669	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305\|PubMed:26280335,ECO:0000305\|PubMed:26776682;Dbxref=PMID:26280335,PMID:26776682
Q92542	332	367	333	339	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	332	367	356	358	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	485	517	34	709	Chain	ID=PRO_0000019681;Note=Nicastrin
Q92542	485	517	506	506	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244\|PDB:5A63,ECO:0000255,ECO:0000269\|PubMed:26280335;Dbxref=PMID:26280335
Q92542	485	517	482	502	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	485	517	515	526	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	485	517	34	669	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305\|PubMed:26280335,ECO:0000305\|PubMed:26776682;Dbxref=PMID:26280335,PMID:26776682
Q92542	485	517	508	510	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	601	605	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	619	623	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	627	630	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	643	645	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	649	651	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	657	664	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	34	709	Chain	ID=PRO_0000019681;Note=Nicastrin
Q92542	598	669	586	620	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:5A63,ECO:0000244\|PDB:5FN2,ECO:0000244\|PDB:5FN3,ECO:0000244\|PDB:5FN4,ECO:0000244\|PDB:5FN5,ECO:0000269\|PubMed:26280335,ECO:0000269\|Pub
Q92542	598	669	612	612	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19349973;Dbxref=PMID:19349973
Q92542	598	669	633	636	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	666	692	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	657	657	Sequence conflict	Note=R->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q92542	598	669	34	669	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305\|PubMed:26280335,ECO:0000305\|PubMed:26776682;Dbxref=PMID:26280335,PMID:26776682
Q92542	598	669	597	599	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	611	614	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63

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
Q92542	281	332	275	281	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	281	332	287	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	281	332	322	331	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	281	332	34	709	Chain	ID=PRO_0000019681;Note=Nicastrin
Q92542	281	332	299	314	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	281	332	34	669	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305\|PubMed:26280335,ECO:0000305\|PubMed:26776682;Dbxref=PMID:26280335,PMID:26776682
Q92542	281	332	295	298	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	332	367	352	354	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	332	367	359	367	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	332	367	34	709	Chain	ID=PRO_0000019681;Note=Nicastrin
Q92542	332	367	340	349	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	332	367	336	337	Mutagenesis	Note=Increases production of amyloid-beta (beta-APP40 and beta-APP42) in APP processing. DY->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10993067;Dbxref=PMID:10993067
Q92542	332	367	34	669	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305\|PubMed:26280335,ECO:0000305\|PubMed:26776682;Dbxref=PMID:26280335,PMID:26776682
Q92542	332	367	333	339	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	332	367	356	358	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	485	517	34	709	Chain	ID=PRO_0000019681;Note=Nicastrin
Q92542	485	517	506	506	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244\|PDB:5A63,ECO:0000255,ECO:0000269\|PubMed:26280335;Dbxref=PMID:26280335
Q92542	485	517	482	502	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	485	517	515	526	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	485	517	34	669	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305\|PubMed:26280335,ECO:0000305\|PubMed:26776682;Dbxref=PMID:26280335,PMID:26776682
Q92542	485	517	508	510	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	601	605	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	619	623	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	627	630	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	643	645	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	649	651	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	657	664	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	34	709	Chain	ID=PRO_0000019681;Note=Nicastrin
Q92542	598	669	586	620	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:5A63,ECO:0000244\|PDB:5FN2,ECO:0000244\|PDB:5FN3,ECO:0000244\|PDB:5FN4,ECO:0000244\|PDB:5FN5,ECO:0000269\|PubMed:26280335,ECO:0000269\|Pub
Q92542	598	669	612	612	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19349973;Dbxref=PMID:19349973
Q92542	598	669	633	636	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	666	692	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	657	657	Sequence conflict	Note=R->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q92542	598	669	34	669	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305\|PubMed:26280335,ECO:0000305\|PubMed:26776682;Dbxref=PMID:26280335,PMID:26776682
Q92542	598	669	597	599	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63
Q92542	598	669	611	614	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5A63

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SNVs in the skipped exons for NCSTN

- 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.

NCSTN_SKCM_exon_skip_12875_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-CC-A7IH-01	exon_skip_12868	160314512	160314616	160314603	160314606	Frame_Shift_Del	GATT	-	p.59_60del
LIHC	TCGA-CC-A7IH-01	exon_skip_12868	160314512	160314616	160314603	160314606	Frame_Shift_Del	GATT	-	p.QI39fs
LIHC	TCGA-DD-A1EG-01	exon_skip_12884	160325445	160325547	160325498	160325498	Frame_Shift_Del	A	-	p.E449fs
STAD	TCGA-EQ-A4SO-01	exon_skip_12889	160325653	160325748	160325716	160325728	Frame_Shift_Del	TTCAGCGACACAG	-	p.506_510del
UCEC	TCGA-A5-A0GV-01	exon_skip_12909	160326831	160327043	160326944	160326945	Frame_Shift_Del	AC	-	p.E636fs
LUSC	TCGA-21-5784-01	exon_skip_12868	160314512	160314616	160314557	160314557	Nonsense_Mutation	T	A	p.L44*
BLCA	TCGA-S5-A6DX-01	exon_skip_12894	160326390	160326544	160326404	160326404	Nonsense_Mutation	C	T	p.Q532*
SKCM	TCGA-D9-A6EC-06	exon_skip_12909	160326831	160327043	160326852	160326852	Nonsense_Mutation	C	T	p.Q586*
SKCM	TCGA-D3-A2JL-06	exon_skip_12875	160321844	160321996	160321843	160321843	Splice_Site	G	A	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-D3-A2JL-06
	Cancer type: SKCM
	ESID: exon_skip_12875
	Skipped exon start: 160321844
	Skipped exon end: 160321996
	Mutation start: 160321843
	Mutation end: 160321843
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: .
exon_skip_12875_SKCM_TCGA-D3-A2JL-06.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
OSC20_UPPER_AERODIGESTIVE_TRACT	160314512	160314616	160314530	160314530	Missense_Mutation	C	T	p.S35L
639V_URINARY_TRACT	160314512	160314616	160314592	160314592	Missense_Mutation	G	A	p.A56T
BICR18_UPPER_AERODIGESTIVE_TRACT	160321012	160321162	160321033	160321033	Missense_Mutation	A	G	p.S202G
LS411N_LARGE_INTESTINE	160321012	160321162	160321059	160321059	Missense_Mutation	C	A	p.F210L
CAL12T_LUNG	160321012	160321162	160321124	160321124	Missense_Mutation	G	A	p.R232Q
CAL12T_LUNG	160321078	160321162	160321124	160321124	Missense_Mutation	G	A	p.R232Q
BICR18_UPPER_AERODIGESTIVE_TRACT	160321012	160321162	160321133	160321133	Missense_Mutation	C	T	p.S235F
BICR18_UPPER_AERODIGESTIVE_TRACT	160321078	160321162	160321133	160321133	Missense_Mutation	C	T	p.S235F
BT20_BREAST	160321012	160321162	160321157	160321157	Missense_Mutation	A	T	p.N243I
BT20_BREAST	160321078	160321162	160321157	160321157	Missense_Mutation	A	T	p.N243I
HCT15_LARGE_INTESTINE	160321844	160321996	160321883	160321883	Missense_Mutation	G	A	p.A295T
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160321916	160321996	160321964	160321964	Missense_Mutation	C	T	p.P322S
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160321844	160321996	160321964	160321964	Missense_Mutation	C	T	p.P322S
HEC108_ENDOMETRIUM	160321916	160321996	160321968	160321968	Missense_Mutation	G	A	p.R323H
HEC108_ENDOMETRIUM	160321844	160321996	160321968	160321968	Missense_Mutation	G	A	p.R323H
EN_ENDOMETRIUM	160321916	160321996	160321980	160321980	Missense_Mutation	T	C	p.F327S
EN_ENDOMETRIUM	160321844	160321996	160321980	160321980	Missense_Mutation	T	C	p.F327S
HEC6_ENDOMETRIUM	160322677	160322781	160322716	160322716	Missense_Mutation	G	A	p.D346N
SNU175_LARGE_INTESTINE	160322677	160322781	160322740	160322740	Missense_Mutation	G	A	p.V354M
EN_ENDOMETRIUM	160322677	160322781	160322759	160322759	Missense_Mutation	A	G	p.D360G
FADU_UPPER_AERODIGESTIVE_TRACT	160325445	160325547	160325470	160325470	Missense_Mutation	G	A	p.A460T
JHUEM7_ENDOMETRIUM	160325445	160325547	160325486	160325486	Missense_Mutation	T	C	p.V465A
PATU8902_PANCREAS	160325445	160325547	160325494	160325494	Missense_Mutation	C	T	p.P468S
SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160325445	160325547	160325500	160325500	Missense_Mutation	T	A	p.W470R
AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160325445	160325547	160325507	160325507	Missense_Mutation	G	T	p.S472I
HMY1_SKIN	160325653	160325748	160325707	160325707	Missense_Mutation	G	A	p.G504R
IGR1_SKIN	160326390	160326544	160326408	160326408	Missense_Mutation	A	G	p.H553R
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160326831	160327043	160326841	160326841	Missense_Mutation	A	G	p.Y602C
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160321012	160321162	160321085	160321085	Nonsense_Mutation	C	A	p.S219*
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160321078	160321162	160321085	160321085	Nonsense_Mutation	C	A	p.S219*
NCIH513_PLEURA	160325445	160325547	160325451	160325451	Nonsense_Mutation	C	G	p.Y453*
NCIH661_LUNG	160325653	160325748	160325748	160325748	Splice_Site	G	A	p.T517T

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

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 NCSTN

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

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RelatedDrugs for NCSTN

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 NCSTN

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
NCSTN	C1840560	Hidradenitis suppurativa, familial	2	CTD_human;UNIPROT
NCSTN	C0002395	Alzheimer's Disease	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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