ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NOTCH1

Gene summary

Gene information	Gene symbol	NOTCH1
	Gene ID	4851
	Gene name	notch 1
	Synonyms	AOS5\|AOVD1\|TAN1\|hN1
	Cytomap	9q34.3
	Type of gene	protein-coding
	Description	neurogenic locus notch homolog protein 1Notch homolog 1, translocation-associatedtranslocation-associated notch protein TAN-1
	Modification date	20180527
	UniProtAcc	P46531
	Context	PubMed: NOTCH1 [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
NOTCH1	GO:0007050	cell cycle arrest	11306509
NOTCH1	GO:0007219	Notch signaling pathway	11306509
NOTCH1	GO:0008284	positive regulation of cell proliferation	17849174
NOTCH1	GO:0008285	negative regulation of cell proliferation	11306509\|20616313
NOTCH1	GO:0010629	negative regulation of gene expression	11306509
NOTCH1	GO:0010812	negative regulation of cell-substrate adhesion	16501043
NOTCH1	GO:0035924	cellular response to vascular endothelial growth factor stimulus	20616313
NOTCH1	GO:0045944	positive regulation of transcription by RNA polymerase II	20616313
NOTCH1	GO:0045967	negative regulation of growth rate	11306509
NOTCH1	GO:0046579	positive regulation of Ras protein signal transduction	11306509
NOTCH1	GO:0070374	positive regulation of ERK1 and ERK2 cascade	11306509
NOTCH1	GO:0071372	cellular response to follicle-stimulating hormone stimulus	20613903
NOTCH1	GO:0090051	negative regulation of cell migration involved in sprouting angiogenesis	20616313
NOTCH1	GO:2001027	negative regulation of endothelial cell chemotaxis	20616313

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Exon skipping events across known transcript of Ensembl for NOTCH1 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 NOTCH1

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 NOTCH1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_508353	9	139409934:139410168:139410432:139410546:139411723:139411837	139410432:139410546	ENSG00000148400.9	ENST00000277541.6
exon_skip_508356	9	139410432:139410546:139411723:139411837:139412203:139412389	139411723:139411837	ENSG00000148400.9	ENST00000277541.6
exon_skip_508357	9	139412203:139412389:139412588:139412744:139413042:139413276	139412588:139412744	ENSG00000148400.9	ENST00000277541.6

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NOTCH1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_508353	9	139409934:139410168:139410432:139410546:139411723:139411837	139410432:139410546	ENSG00000148400.9	ENST00000277541.6
exon_skip_508356	9	139410432:139410546:139411723:139411837:139412203:139412389	139411723:139411837	ENSG00000148400.9	ENST00000277541.6
exon_skip_508357	9	139412203:139412389:139412588:139412744:139413042:139413276	139412588:139412744	ENSG00000148400.9	ENST00000277541.6

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 NOTCH1

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
ENST00000277541	139410432	139410546	In-frame
ENST00000277541	139411723	139411837	In-frame
ENST00000277541	139412588	139412744	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
ENST00000277541	139410432	139410546	In-frame
ENST00000277541	139411723	139411837	In-frame
ENST00000277541	139412588	139412744	In-frame

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Infer the effects of exon skipping event on protein functional features for NOTCH1

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
ENST00000277541	9388	2555	139412588	139412744	1176	1331	366	418
ENST00000277541	9388	2555	139411723	139411837	1518	1631	480	518
ENST00000277541	9388	2555	139410432	139410546	1632	1745	518	556

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
ENST00000277541	9388	2555	139412588	139412744	1176	1331	366	418
ENST00000277541	9388	2555	139411723	139411837	1518	1631	480	518
ENST00000277541	9388	2555	139410432	139410546	1632	1745	518	556

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
P46531	366	418	418	420	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	366	418	19	2555	Chain	ID=PRO_0000007674;Note=Neurogenic locus notch homolog protein 1
P46531	366	418	361	370	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	366	418	376	387	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	366	418	381	398	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	366	418	400	409	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	366	418	416	429	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	366	418	335	371	Domain	Note=EGF-like 9%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	366	418	372	410	Domain	Note=EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	366	418	412	450	Domain	Note=EGF-like 11%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	366	418	378	378	Glycosylation	Note=O-linked (Glc...) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q01705
P46531	366	418	415	417	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	366	418	19	1735	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P46531	480	518	482	484	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5L0R
P46531	480	518	504	507	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	480	518	512	515	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	480	518	19	2555	Chain	ID=PRO_0000007674;Note=Neurogenic locus notch homolog protein 1
P46531	480	518	478	487	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	494	505	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	499	514	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	516	525	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	452	488	Domain	Note=EGF-like 12%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	480	518	490	526	Domain	Note=EGF-like 13%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	480	518	496	496	Glycosylation	Note=O-linked (Glc...) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	490	490	Metal binding	Note=Calcium 3;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	491	491	Metal binding	Note=Calcium 3%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	493	493	Metal binding	Note=Calcium 3;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	507	507	Metal binding	Note=Calcium 3;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	508	508	Metal binding	Note=Calcium 3%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	19	1735	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P46531	480	518	493	496	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	480	518	500	502	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VJ3
P46531	518	556	520	522	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	518	556	19	2555	Chain	ID=PRO_0000007674;Note=Neurogenic locus notch homolog protein 1
P46531	518	556	516	525	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	518	556	532	543	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	518	556	537	552	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	518	556	554	563	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	518	556	490	526	Domain	Note=EGF-like 13%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	518	556	528	564	Domain	Note=EGF-like 14%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	518	556	534	534	Glycosylation	Note=O-linked (Glc...) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q01705
P46531	518	556	19	1735	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
P46531	366	418	418	420	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	366	418	19	2555	Chain	ID=PRO_0000007674;Note=Neurogenic locus notch homolog protein 1
P46531	366	418	361	370	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	366	418	376	387	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	366	418	381	398	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	366	418	400	409	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	366	418	416	429	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	366	418	335	371	Domain	Note=EGF-like 9%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	366	418	372	410	Domain	Note=EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	366	418	412	450	Domain	Note=EGF-like 11%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	366	418	378	378	Glycosylation	Note=O-linked (Glc...) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q01705
P46531	366	418	415	417	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	366	418	19	1735	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P46531	480	518	482	484	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5L0R
P46531	480	518	504	507	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	480	518	512	515	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	480	518	19	2555	Chain	ID=PRO_0000007674;Note=Neurogenic locus notch homolog protein 1
P46531	480	518	478	487	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	494	505	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	499	514	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	516	525	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	452	488	Domain	Note=EGF-like 12%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	480	518	490	526	Domain	Note=EGF-like 13%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	480	518	496	496	Glycosylation	Note=O-linked (Glc...) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	490	490	Metal binding	Note=Calcium 3;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	491	491	Metal binding	Note=Calcium 3%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	493	493	Metal binding	Note=Calcium 3;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	507	507	Metal binding	Note=Calcium 3;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	508	508	Metal binding	Note=Calcium 3%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	480	518	19	1735	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P46531	480	518	493	496	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	480	518	500	502	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VJ3
P46531	518	556	520	522	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D0E
P46531	518	556	19	2555	Chain	ID=PRO_0000007674;Note=Neurogenic locus notch homolog protein 1
P46531	518	556	516	525	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q07008
P46531	518	556	532	543	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	518	556	537	552	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	518	556	554	563	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P46531	518	556	490	526	Domain	Note=EGF-like 13%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	518	556	528	564	Domain	Note=EGF-like 14%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P46531	518	556	534	534	Glycosylation	Note=O-linked (Glc...) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q01705
P46531	518	556	19	1735	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for NOTCH1

- 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
HNSC	TCGA-CR-7365-01	exon_skip_508353	139410433	139410546	139410477	139410477	Frame_Shift_Del	T	-	p.K542fs
HNSC	TCGA-BA-5149-01	exon_skip_508356	139411724	139411837	139411734	139411740	Frame_Shift_Del	CTCGCAC	-	p.Q513fs
HNSC	TCGA-BA-5149-01	exon_skip_508356	139411724	139411837	139411734	139411740	Frame_Shift_Del	CTCGCAC	-	p.QCE513fs
LIHC	TCGA-DD-A39Y-01	exon_skip_508356	139411724	139411837	139411752	139411752	Frame_Shift_Del	G	-	p.I509fs
LIHC	TCGA-DD-A3A0-01	exon_skip_508357	139412589	139412744	139412647	139412647	Frame_Shift_Del	G	-	p.T399fs
LIHC	TCGA-DD-A39Y-01	exon_skip_508357	139412589	139412744	139412672	139412672	Frame_Shift_Del	G	-	p.P391fs
LIHC	TCGA-DD-A1EG-01	exon_skip_508357	139412589	139412744	139412677	139412677	Frame_Shift_Del	G	-	p.T389fs
HNSC	TCGA-BA-6873-01	exon_skip_508357	139412589	139412744	139412704	139412704	Frame_Shift_Del	G	-	p.P380fs
HNSC	TCGA-CQ-6220-01	exon_skip_508357	139412589	139412744	139412593	139412594	Frame_Shift_Ins	-	GA	p.S417fs
ESCA	TCGA-L5-A88T-01	exon_skip_508353	139410433	139410546	139410452	139410452	Nonsense_Mutation	G	C	p.Y550*
ESCA	TCGA-L5-A88T-01	exon_skip_508353	139410433	139410546	139410452	139410452	Nonsense_Mutation	G	C	p.Y550X
HNSC	TCGA-MT-A67A-01	exon_skip_508353	139410433	139410546	139410452	139410452	Nonsense_Mutation	G	T	p.Y550*
HNSC	TCGA-CV-7568-01	exon_skip_508356	139411724	139411837	139411742	139411742	Nonsense_Mutation	G	A	p.Q513*
HNSC	TCGA-BA-A6DF-01	exon_skip_508357	139412589	139412744	139412697	139412697	Nonsense_Mutation	C	A	p.E383*

- 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
IGROV1_OVARY	139412589	139412744	139412632	139412637	In_Frame_Del	GTACCC	-	p.GY403del
HEC108_ENDOMETRIUM	139411724	139411837	139411733	139411733	Missense_Mutation	A	G	p.C516R
SAS_UPPER_AERODIGESTIVE_TRACT	139412589	139412744	139412601	139412601	Missense_Mutation	C	T	p.E415K
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	139412589	139412744	139412622	139412622	Missense_Mutation	C	T	p.A408T
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	139412589	139412744	139412630	139412630	Missense_Mutation	G	A	p.T405M
G402_SOFT_TISSUE	139412589	139412744	139412688	139412688	Missense_Mutation	T	C	p.N386D
P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	139412589	139412744	139412697	139412697	Missense_Mutation	C	T	p.E383K
OE21_OESOPHAGUS	139412589	139412744	139412732	139412732	Missense_Mutation	T	C	p.H371R
DOK_UPPER_AERODIGESTIVE_TRACT	139410433	139410546	139410452	139410452	Nonsense_Mutation	G	T	p.Y550*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NOTCH1

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 NOTCH1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NOTCH1

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RelatedDrugs for NOTCH1

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 NOTCH1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
NOTCH1	C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	4	CTD_human
NOTCH1	C1458155	Mammary Neoplasms	2	CTD_human
NOTCH1	C0000768	Congenital Abnormality	1	CTD_human
NOTCH1	C0004114	Astrocytoma	1	CTD_human
NOTCH1	C0006663	Calcinosis	1	CTD_human
NOTCH1	C0007621	Neoplastic Cell Transformation	1	CTD_human
NOTCH1	C0007873	Uterine Cervical Neoplasm	1	CTD_human
NOTCH1	C0009375	Colonic Neoplasms	1	CTD_human
NOTCH1	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
NOTCH1	C0017636	Glioblastoma	1	CTD_human
NOTCH1	C0018824	Heart valve disease	1	CTD_human
NOTCH1	C0023492	Leukemia, T-Cell	1	CTD_human
NOTCH1	C0024299	Lymphoma	1	CTD_human
NOTCH1	C0027765	nervous system disorder	1	CTD_human
NOTCH1	C0036439	Scoliosis, unspecified	1	CTD_human
NOTCH1	C0038002	Splenomegaly	1	CTD_human
NOTCH1	C0279626	Squamous cell carcinoma of esophagus	1	CTD_human
NOTCH1	C0376634	Craniofacial Abnormalities	1	CTD_human
NOTCH1	C0428791	Aortic valve calcification	1	CTD_human
NOTCH1	C0887833	Carcinoma, Pancreatic Ductal	1	CTD_human
NOTCH1	C4014970	ADAMS-OLIVER SYNDROME 5	1	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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