ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NOTCH2

Gene summary

Gene information	Gene symbol	NOTCH2
	Gene ID	4853
	Gene name	notch 2
	Synonyms	AGS2\|HJCYS\|hN2
	Cytomap	1p12
	Type of gene	protein-coding
	Description	neurogenic locus notch homolog protein 2Notch homolog 2
	Modification date	20180519
	UniProtAcc	Q04721
	Context	PubMed: NOTCH2 [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
NOTCH2	GO:0007050	cell cycle arrest	11306509
NOTCH2	GO:0007219	Notch signaling pathway	11306509\|25985737
NOTCH2	GO:0010629	negative regulation of gene expression	11306509
NOTCH2	GO:0045967	negative regulation of growth rate	11306509
NOTCH2	GO:0046579	positive regulation of Ras protein signal transduction	11306509
NOTCH2	GO:0070374	positive regulation of ERK1 and ERK2 cascade	11306509

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Exon skipping events across known transcript of Ensembl for NOTCH2 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 NOTCH2

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 NOTCH2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_29764	1	120454175:120459317:120460287:120460385:120461028:120461176	120460287:120460385	ENSG00000134250.13	ENST00000256646.2
exon_skip_29767	1	120484148:120484377:120491036:120491189:120491629:120491749	120491036:120491189	ENSG00000134250.13	ENST00000256646.2
exon_skip_29770	1	120491036:120491189:120491629:120491749:120493346:120493460	120491629:120491749	ENSG00000134250.13	ENST00000256646.2
exon_skip_29771	1	120497662:120497855:120502014:120502125:120506196:120506430	120502014:120502125	ENSG00000134250.13	ENST00000479412.2,ENST00000256646.2
exon_skip_29772	1	120510055:120510244:120510699:120510855:120512133:120512367	120510699:120510855	ENSG00000134250.13	ENST00000479412.2,ENST00000256646.2
exon_skip_29773	1	120512133:120512367:120529582:120529705:120539619:120539955	120529582:120529705	ENSG00000134250.13	ENST00000479412.2,ENST00000256646.2
exon_skip_29774	1	120529582:120529705:120539619:120539955:120547951:120548211	120539619:120539955	ENSG00000134250.13	ENST00000479412.2,ENST00000256646.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NOTCH2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_29764	1	120454175:120459317:120460287:120460385:120461028:120461176	120460287:120460385	ENSG00000134250.13	ENST00000256646.2
exon_skip_29767	1	120484148:120484377:120491036:120491189:120491629:120491749	120491036:120491189	ENSG00000134250.13	ENST00000256646.2
exon_skip_29770	1	120491036:120491189:120491629:120491749:120493346:120493460	120491629:120491749	ENSG00000134250.13	ENST00000256646.2
exon_skip_29771	1	120497662:120497855:120502014:120502125:120506196:120506430	120502014:120502125	ENSG00000134250.13	ENST00000256646.2,ENST00000479412.2
exon_skip_29772	1	120510055:120510244:120510699:120510855:120512133:120512367	120510699:120510855	ENSG00000134250.13	ENST00000256646.2,ENST00000479412.2
exon_skip_29773	1	120512133:120512367:120529582:120529705:120539619:120539955	120529582:120529705	ENSG00000134250.13	ENST00000256646.2,ENST00000479412.2
exon_skip_29774	1	120529582:120529705:120539619:120539955:120547951:120548211	120539619:120539955	ENSG00000134250.13	ENST00000256646.2,ENST00000479412.2

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for NOTCH2

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
ENST00000256646	120460287	120460385	Frame-shift
ENST00000256646	120491036	120491189	In-frame
ENST00000256646	120491629	120491749	In-frame
ENST00000256646	120502014	120502125	In-frame
ENST00000256646	120510699	120510855	In-frame
ENST00000256646	120529582	120529705	In-frame
ENST00000256646	120539619	120539955	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
ENST00000256646	120460287	120460385	Frame-shift
ENST00000256646	120491036	120491189	In-frame
ENST00000256646	120491629	120491749	In-frame
ENST00000256646	120502014	120502125	In-frame
ENST00000256646	120510699	120510855	In-frame
ENST00000256646	120529582	120529705	In-frame
ENST00000256646	120539619	120539955	In-frame

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Infer the effects of exon skipping event on protein functional features for NOTCH2

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
ENST00000256646	11406	2471	120539619	120539955	636	971	138	250
ENST00000256646	11406	2471	120529582	120529705	972	1094	250	291
ENST00000256646	11406	2471	120510699	120510855	1329	1484	369	421
ENST00000256646	11406	2471	120502014	120502125	2136	2246	638	675
ENST00000256646	11406	2471	120491629	120491749	2700	2819	826	866
ENST00000256646	11406	2471	120491036	120491189	2820	2972	866	917

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
ENST00000256646	11406	2471	120539619	120539955	636	971	138	250
ENST00000256646	11406	2471	120529582	120529705	972	1094	250	291
ENST00000256646	11406	2471	120510699	120510855	1329	1484	369	421
ENST00000256646	11406	2471	120502014	120502125	2136	2246	638	675
ENST00000256646	11406	2471	120491629	120491749	2700	2819	826	866
ENST00000256646	11406	2471	120491036	120491189	2820	2972	866	917

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
Q04721	138	250	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	138	250	133	142	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	148	159	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	153	168	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	170	179	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	186	198	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	192	207	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	209	218	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	225	236	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	230	246	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	248	257	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	105	143	Domain	Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	138	250	144	180	Domain	Note=EGF-like 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	138	250	182	219	Domain	Note=EGF-like 5%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	138	250	221	258	Domain	Note=EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	138	250	155	155	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	138	250	210	210	Sequence conflict	Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q04721	138	250	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	250	291	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	250	291	248	257	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	250	291	264	275	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	250	291	269	284	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	250	291	286	295	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	250	291	221	258	Domain	Note=EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	250	291	260	296	Domain	Note=EGF-like 7%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	250	291	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	369	421	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	369	421	364	373	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	369	421	379	390	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	369	421	384	401	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	369	421	403	412	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	369	421	419	433	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	369	421	338	374	Domain	Note=EGF-like 9%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	369	421	375	413	Domain	Note=EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	369	421	415	454	Domain	Note=EGF-like 11%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	369	421	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	369	421	418	420	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5MWB
Q04721	638	675	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	638	675	633	642	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	638	675	649	659	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	638	675	654	668	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	638	675	670	679	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	638	675	607	643	Domain	Note=EGF-like 16%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	638	675	645	680	Domain	Note=EGF-like 17%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	638	675	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	826	866	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	826	866	821	830	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	826	866	837	848	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	826	866	842	859	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	826	866	861	870	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	826	866	795	831	Domain	Note=EGF-like 21%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	826	866	833	871	Domain	Note=EGF-like 22;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	826	866	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	866	917	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	866	917	861	870	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	866	917	877	888	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	866	917	882	897	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	866	917	899	908	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	866	917	915	926	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	866	917	833	871	Domain	Note=EGF-like 22;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	866	917	873	909	Domain	Note=EGF-like 23%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	866	917	911	947	Domain	Note=EGF-like 24%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	866	917	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q04721	138	250	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	138	250	133	142	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	148	159	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	153	168	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	170	179	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	186	198	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	192	207	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	209	218	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	225	236	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	230	246	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	248	257	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	138	250	105	143	Domain	Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	138	250	144	180	Domain	Note=EGF-like 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	138	250	182	219	Domain	Note=EGF-like 5%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	138	250	221	258	Domain	Note=EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	138	250	155	155	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	138	250	210	210	Sequence conflict	Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q04721	138	250	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	250	291	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	250	291	248	257	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	250	291	264	275	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	250	291	269	284	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	250	291	286	295	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	250	291	221	258	Domain	Note=EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	250	291	260	296	Domain	Note=EGF-like 7%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	250	291	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	369	421	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	369	421	364	373	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	369	421	379	390	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	369	421	384	401	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	369	421	403	412	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	369	421	419	433	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	369	421	338	374	Domain	Note=EGF-like 9%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	369	421	375	413	Domain	Note=EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	369	421	415	454	Domain	Note=EGF-like 11%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	369	421	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	369	421	418	420	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5MWB
Q04721	638	675	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	638	675	633	642	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	638	675	649	659	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	638	675	654	668	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	638	675	670	679	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	638	675	607	643	Domain	Note=EGF-like 16%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	638	675	645	680	Domain	Note=EGF-like 17%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	638	675	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	826	866	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	826	866	821	830	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	826	866	837	848	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	826	866	842	859	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	826	866	861	870	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	826	866	795	831	Domain	Note=EGF-like 21%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	826	866	833	871	Domain	Note=EGF-like 22;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	826	866	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04721	866	917	26	2471	Chain	ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2
Q04721	866	917	861	870	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	866	917	877	888	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	866	917	882	897	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	866	917	899	908	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	866	917	915	926	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q04721	866	917	833	871	Domain	Note=EGF-like 22;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	866	917	873	909	Domain	Note=EGF-like 23%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	866	917	911	947	Domain	Note=EGF-like 24%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q04721	866	917	26	1677	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for NOTCH2

- 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.

NOTCH2_LGG_exon_skip_29771_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-A39Y-01	exon_skip_29764	120460288	120460385	120460319	120460319	Frame_Shift_Del	T	-	p.N1999fs
LIHC	TCGA-DD-A39Y-01	exon_skip_29767	120491037	120491189	120491167	120491167	Frame_Shift_Del	A	-	p.I874fs
LGG	TCGA-DU-7301-01	exon_skip_29770	120491630	120491749	120491679	120491680	Frame_Shift_Del	CT	-	p.E850fs
LGG	TCGA-DH-A7UV-01	exon_skip_29770	120491630	120491749	120491682	120491683	Frame_Shift_Del	TT	-	p.K849fs
HNSC	TCGA-BA-6870-01	exon_skip_29771	120502015	120502125	120502074	120502074	Frame_Shift_Del	T	-	p.H656fs
LIHC	TCGA-DD-A39Y-01		120510700	120510855	120510722	120510722	Frame_Shift_Del	T	-	p.E414fs
DLBC	TCGA-FF-A7CX-01	exon_skip_29773	120529583	120529705	120529632	120529635	Frame_Shift_Del	ACAA	-	p.275_276del
HNSC	TCGA-DQ-5631-01	exon_skip_29774	120539620	120539955	120539889	120539893	Frame_Shift_Del	GTGGT	-	p.T160fs
HNSC	TCGA-DQ-5631-01	exon_skip_29774	120539620	120539955	120539889	120539893	Frame_Shift_Del	GTGGT	-	p.TT160fs
GBM	TCGA-12-0688-01	exon_skip_29774	120539620	120539955	120539904	120539904	Frame_Shift_Del	C	-	p.G156fs
KICH	TCGA-KN-8437-01	exon_skip_29774	120539620	120539955	120539779	120539780	Frame_Shift_Ins	-	G	p.T197fs
STAD	TCGA-BR-7851-01	exon_skip_29774	120539620	120539955	120539849	120539850	Frame_Shift_Ins	-	A	p.F174fs
STAD	TCGA-BR-7851-01	exon_skip_29774	120539620	120539955	120539850	120539851	Frame_Shift_Ins	-	A	p.F174fs
STAD	TCGA-HU-A4GU-01		120510700	120510855	120510772	120510772	Nonsense_Mutation	G	A	p.Q398*
STAD	TCGA-HU-A4GU-01		120510700	120510855	120510772	120510772	Nonsense_Mutation	G	A	p.Q398X
HNSC	TCGA-CV-7178-01	exon_skip_29774	120539620	120539955	120539638	120539638	Nonsense_Mutation	C	A	p.E245*
HNSC	TCGA-CV-6003-01	exon_skip_29774	120539620	120539955	120539834	120539834	Nonsense_Mutation	A	T	p.C179*
PRAD	TCGA-CH-5767-01	exon_skip_29774	120539620	120539955	120539834	120539834	Nonsense_Mutation	A	T	p.C179*
PRAD	TCGA-CH-5767-01	exon_skip_29774	120539620	120539955	120539834	120539834	Nonsense_Mutation	A	T	p.C179X
KIRC	TCGA-B8-5550-01	exon_skip_29770	120491630	120491749	120491750	120491750	Splice_Site	C	A	.
LGG	TCGA-CS-6188-01	exon_skip_29771	120502015	120502125	120502127	120502127	Splice_Site	T	C	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CS-6188-01
	Cancer type: LGG
	ESID: exon_skip_29771
	Skipped exon start: 120502015
	Skipped exon end: 120502125
	Mutation start: 120502127
	Mutation end: 120502127
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: .
exon_skip_29771_LGG_TCGA-CS-6188-01.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
KYSE520_OESOPHAGUS	120529583	120529705	120529611	120529612	Frame_Shift_Ins	-	T	p.Y282fs
LS411N_LARGE_INTESTINE	120460288	120460385	120460302	120460302	Missense_Mutation	T	C	p.M2005V
SNUC5_LARGE_INTESTINE	120491037	120491189	120491142	120491142	Missense_Mutation	T	C	p.M883V
DOV13_OVARY	120491037	120491189	120491142	120491142	Missense_Mutation	T	C	p.M883V
CCK81_LARGE_INTESTINE	120491037	120491189	120491184	120491184	Missense_Mutation	G	A	p.R869W
EFM192A_BREAST	120502015	120502125	120502058	120502058	Missense_Mutation	A	T	p.D661E
SW626_OVARY	120502015	120502125	120502075	120502075	Missense_Mutation	G	A	p.H656Y
KYSE520_OESOPHAGUS	120510700	120510855	120510798	120510798	Missense_Mutation	A	G	p.L389P
COLO792_SKIN	120539620	120539955	120539638	120539638	Missense_Mutation	C	G	p.E245Q
SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120539620	120539955	120539727	120539727	Missense_Mutation	C	T	p.G215D
LS411N_LARGE_INTESTINE	120539620	120539955	120539796	120539796	Missense_Mutation	C	T	p.C192Y
DOV13_OVARY	120539620	120539955	120539946	120539946	Missense_Mutation	C	T	p.C142Y
NCIH322_LUNG	120539620	120539955	120539740	120539740	Nonsense_Mutation	G	A	p.Q211*
VMRCLCD_LUNG	120539620	120539955	120539755	120539755	Nonsense_Mutation	G	A	p.Q206*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NOTCH2

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 NOTCH2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NOTCH2

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RelatedDrugs for NOTCH2

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 NOTCH2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
NOTCH2	C0917715	Hajdu-Cheney Syndrome	2	CTD_human;ORPHANET
NOTCH2	C0004114	Astrocytoma	1	CTD_human
NOTCH2	C0007873	Uterine Cervical Neoplasm	1	CTD_human
NOTCH2	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	1	CTD_human
NOTCH2	C0017636	Glioblastoma	1	CTD_human
NOTCH2	C0024121	Lung Neoplasms	1	CTD_human
NOTCH2	C0206663	Neuroectodermal Tumor, Primitive	1	CTD_human
NOTCH2	C0279626	Squamous cell carcinoma of esophagus	1	CTD_human
NOTCH2	C1458155	Mammary Neoplasms	1	CTD_human
NOTCH2	C1857761	Alagille Syndrome 2	1	ORPHANET;UNIPROT

	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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