ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for EGF

Gene summary

Gene information	Gene symbol	EGF
	Gene ID	1950
	Gene name	epidermal growth factor
	Synonyms	HOMG4\|URG
	Cytomap	4q25
	Type of gene	protein-coding
	Description	pro-epidermal growth factorbeta-urogastrone
	Modification date	20180527
	UniProtAcc	P01133
	Context	PubMed: EGF [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
EGF	GO:0001525	angiogenesis	15611079
EGF	GO:0002092	positive regulation of receptor internalization	22732145
EGF	GO:0008284	positive regulation of cell proliferation	7736574\|15611079\|20388803
EGF	GO:0010628	positive regulation of gene expression	25678558
EGF	GO:0010800	positive regulation of peptidyl-threonine phosphorylation	16314496
EGF	GO:0030335	positive regulation of cell migration	25678558
EGF	GO:0042327	positive regulation of phosphorylation	15611079
EGF	GO:0043406	positive regulation of MAP kinase activity	15611079
EGF	GO:0045741	positive regulation of epidermal growth factor-activated receptor activity	15611079
EGF	GO:0045840	positive regulation of mitotic nuclear division	15611079
EGF	GO:0045893	positive regulation of transcription, DNA-templated	16314496
EGF	GO:0051048	negative regulation of secretion	10559227
EGF	GO:0070371	ERK1 and ERK2 cascade	16314496
EGF	GO:0090263	positive regulation of canonical Wnt signaling pathway	20302655
EGF	GO:0090279	regulation of calcium ion import	19996314
EGF	GO:1900127	positive regulation of hyaluronan biosynthetic process	17324121
EGF	GO:2000008	regulation of protein localization to cell surface	19996314

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Exon skipping events across known transcript of Ensembl for EGF 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 EGF

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 EGF

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_425698	4	110834396:110834618:110862101:110862301:110864409:110864591	110862101:110862301	ENSG00000138798.7	ENST00000503392.1,ENST00000265171.5
exon_skip_425705	4	110862101:110862301:110864409:110864591:110864997:110865128	110864409:110864591	ENSG00000138798.7	ENST00000503392.1,ENST00000265171.5,ENST00000509793.1,ENST00000502723.1
exon_skip_425708	4	110866228:110866431:110880467:110880593:110882022:110882145	110880467:110880593	ENSG00000138798.7	ENST00000503392.1,ENST00000265171.5
exon_skip_425710	4	110866228:110866431:110882022:110882145:110883018:110883141	110882022:110882145	ENSG00000138798.7	ENST00000509793.1
exon_skip_425711	4	110885556:110885693:110890126:110890275:110895858:110895963	110890126:110890275	ENSG00000138798.7	ENST00000503392.1,ENST00000265171.5,ENST00000509793.1
exon_skip_425712	4	110904577:110904697:110908899:110909016:110909739:110909865	110908899:110909016	ENSG00000138798.7	ENST00000503392.1,ENST00000265171.5,ENST00000509793.1
exon_skip_425718	4	110909739:110909865:110914402:110914525:110915888:110916036	110914402:110914525	ENSG00000138798.7	ENST00000265171.5,ENST00000509793.1
exon_skip_425721	4	110909739:110909865:110915888:110916036:110920834:110921002	110915888:110916036	ENSG00000138798.7	ENST00000503392.1
exon_skip_425732	4	110914402:110914525:110915888:110916036:110920834:110921002	110915888:110916036	ENSG00000138798.7	ENST00000265171.5,ENST00000509996.1,ENST00000509793.1
exon_skip_425736	4	110915888:110916036:110920834:110921002:110925660:110925778	110920834:110921002	ENSG00000138798.7	ENST00000503392.1,ENST00000265171.5,ENST00000509996.1,ENST00000509793.1
exon_skip_425739	4	110920834:110921002:110925660:110925778:110929307:110929386	110925660:110925778	ENSG00000138798.7	ENST00000503392.1,ENST00000265171.5,ENST00000509793.1
exon_skip_425740	4	110920834:110921002:110925660:110925778:110932357:110932464	110925660:110925778	ENSG00000138798.7	ENST00000509996.1
exon_skip_425744	4	110925660:110925778:110929307:110929386:110932357:110932464	110929307:110929386	ENSG00000138798.7	ENST00000503392.1,ENST00000265171.5,ENST00000509793.1,ENST00000537316.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for EGF

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_425698	4	110834396:110834618:110862101:110862301:110864409:110864591	110862101:110862301	ENSG00000138798.7	ENST00000265171.5,ENST00000503392.1
exon_skip_425705	4	110862101:110862301:110864409:110864591:110864997:110865128	110864409:110864591	ENSG00000138798.7	ENST00000509793.1,ENST00000265171.5,ENST00000503392.1,ENST00000502723.1
exon_skip_425708	4	110866228:110866431:110880467:110880593:110882022:110882145	110880467:110880593	ENSG00000138798.7	ENST00000265171.5,ENST00000503392.1
exon_skip_425710	4	110866228:110866431:110882022:110882145:110883018:110883141	110882022:110882145	ENSG00000138798.7	ENST00000509793.1
exon_skip_425711	4	110885556:110885693:110890126:110890275:110895858:110895963	110890126:110890275	ENSG00000138798.7	ENST00000509793.1,ENST00000265171.5,ENST00000503392.1
exon_skip_425712	4	110904577:110904697:110908899:110909016:110909739:110909865	110908899:110909016	ENSG00000138798.7	ENST00000509793.1,ENST00000265171.5,ENST00000503392.1
exon_skip_425718	4	110909739:110909865:110914402:110914525:110915888:110916036	110914402:110914525	ENSG00000138798.7	ENST00000509793.1,ENST00000265171.5
exon_skip_425721	4	110909739:110909865:110915888:110916036:110920834:110921002	110915888:110916036	ENSG00000138798.7	ENST00000503392.1
exon_skip_425732	4	110914402:110914525:110915888:110916036:110920834:110921002	110915888:110916036	ENSG00000138798.7	ENST00000509793.1,ENST00000265171.5,ENST00000509996.1
exon_skip_425736	4	110915888:110916036:110920834:110921002:110925660:110925778	110920834:110921002	ENSG00000138798.7	ENST00000509793.1,ENST00000265171.5,ENST00000503392.1,ENST00000509996.1
exon_skip_425739	4	110920834:110921002:110925660:110925778:110929307:110929386	110925660:110925778	ENSG00000138798.7	ENST00000509793.1,ENST00000265171.5,ENST00000503392.1
exon_skip_425740	4	110920834:110921002:110925660:110925778:110932357:110932464	110925660:110925778	ENSG00000138798.7	ENST00000509996.1
exon_skip_425744	4	110925660:110925778:110929307:110929386:110932357:110932464	110929307:110929386	ENSG00000138798.7	ENST00000509793.1,ENST00000265171.5,ENST00000503392.1,ENST00000537316.1

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 EGF

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
ENST00000265171	110862101	110862301	Frame-shift
ENST00000265171	110864409	110864591	Frame-shift
ENST00000265171	110890126	110890275	Frame-shift
ENST00000265171	110915888	110916036	Frame-shift
ENST00000265171	110925660	110925778	Frame-shift
ENST00000265171	110929307	110929386	Frame-shift
ENST00000265171	110880467	110880593	In-frame
ENST00000265171	110908899	110909016	In-frame
ENST00000265171	110914402	110914525	In-frame
ENST00000265171	110920834	110921002	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
ENST00000265171	110862101	110862301	Frame-shift
ENST00000265171	110864409	110864591	Frame-shift
ENST00000265171	110890126	110890275	Frame-shift
ENST00000265171	110915888	110916036	Frame-shift
ENST00000265171	110925660	110925778	Frame-shift
ENST00000265171	110929307	110929386	Frame-shift
ENST00000265171	110880467	110880593	In-frame
ENST00000265171	110908899	110909016	In-frame
ENST00000265171	110914402	110914525	In-frame
ENST00000265171	110920834	110921002	In-frame

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

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
ENST00000265171	4897	1207	110880467	110880593	1386	1511	313	355
ENST00000265171	4897	1207	110908899	110909016	2937	3053	830	869
ENST00000265171	4897	1207	110914402	110914525	3180	3302	911	952
ENST00000265171	4897	1207	110920834	110921002	3451	3618	1002	1057

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
ENST00000265171	4897	1207	110880467	110880593	1386	1511	313	355
ENST00000265171	4897	1207	110908899	110909016	2937	3053	830	869
ENST00000265171	4897	1207	110914402	110914525	3180	3302	911	952
ENST00000265171	4897	1207	110920834	110921002	3451	3618	1002	1057

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
P01133	313	355	314	355	Alternative sequence	ID=VSP_041586;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P01133	313	355	23	1207	Chain	ID=PRO_0000007540;Note=Pro-epidermal growth factor
P01133	313	355	318	330	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	313	355	325	339	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	313	355	341	354	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	313	355	314	355	Domain	Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	313	355	324	324	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	313	355	23	1032	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	830	869	23	1207	Chain	ID=PRO_0000007540;Note=Pro-epidermal growth factor
P01133	830	869	835	846	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	830	869	840	855	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	830	869	857	868	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	830	869	831	869	Domain	Note=EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	830	869	842	842	Natural variant	ID=VAR_020165;Note=M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.2;Dbxref=dbSNP:rs11569046
P01133	830	869	23	1032	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	911	952	912	952	Alternative sequence	ID=VSP_047190;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P01133	911	952	23	1207	Chain	ID=PRO_0000007540;Note=Pro-epidermal growth factor
P01133	911	952	916	929	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	911	952	923	938	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	911	952	940	951	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	911	952	870	911	Domain	Note=EGF-like 7%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	911	952	912	952	Domain	Note=EGF-like 8%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	911	952	926	926	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	911	952	920	920	Natural variant	ID=VAR_020970;Note=E->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs4698803,PMID:14702039
P01133	911	952	23	1032	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	1002	1057	998	1003	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NQL
P01133	1002	1057	1007	1009	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NQL
P01133	1002	1057	23	1207	Chain	ID=PRO_0000007540;Note=Pro-epidermal growth factor
P01133	1002	1057	971	1023	Chain	ID=PRO_0000007541;Note=Epidermal growth factor
P01133	1002	1057	1003	1012	Disulfide bond	.
P01133	1002	1057	972	1013	Domain	Note=EGF-like 9;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	1002	1057	1043	1043	Natural variant	ID=VAR_020166;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.2;Dbxref=dbSNP:rs11569098
P01133	1002	1057	23	1032	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	1002	1057	1054	1207	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	1002	1057	1033	1053	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	1002	1057	1018	1021	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1P9J

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
P01133	313	355	314	355	Alternative sequence	ID=VSP_041586;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P01133	313	355	23	1207	Chain	ID=PRO_0000007540;Note=Pro-epidermal growth factor
P01133	313	355	318	330	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	313	355	325	339	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	313	355	341	354	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	313	355	314	355	Domain	Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	313	355	324	324	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	313	355	23	1032	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	830	869	23	1207	Chain	ID=PRO_0000007540;Note=Pro-epidermal growth factor
P01133	830	869	835	846	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	830	869	840	855	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	830	869	857	868	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	830	869	831	869	Domain	Note=EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	830	869	842	842	Natural variant	ID=VAR_020165;Note=M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.2;Dbxref=dbSNP:rs11569046
P01133	830	869	23	1032	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	911	952	912	952	Alternative sequence	ID=VSP_047190;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P01133	911	952	23	1207	Chain	ID=PRO_0000007540;Note=Pro-epidermal growth factor
P01133	911	952	916	929	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	911	952	923	938	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	911	952	940	951	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	911	952	870	911	Domain	Note=EGF-like 7%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	911	952	912	952	Domain	Note=EGF-like 8%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	911	952	926	926	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	911	952	920	920	Natural variant	ID=VAR_020970;Note=E->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs4698803,PMID:14702039
P01133	911	952	23	1032	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	1002	1057	998	1003	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NQL
P01133	1002	1057	1007	1009	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NQL
P01133	1002	1057	23	1207	Chain	ID=PRO_0000007540;Note=Pro-epidermal growth factor
P01133	1002	1057	971	1023	Chain	ID=PRO_0000007541;Note=Epidermal growth factor
P01133	1002	1057	1003	1012	Disulfide bond	.
P01133	1002	1057	972	1013	Domain	Note=EGF-like 9;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P01133	1002	1057	1043	1043	Natural variant	ID=VAR_020166;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.2;Dbxref=dbSNP:rs11569098
P01133	1002	1057	23	1032	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	1002	1057	1054	1207	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	1002	1057	1033	1053	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P01133	1002	1057	1018	1021	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1P9J

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SNVs in the skipped exons for EGF

- 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-BC-A3KG-01	exon_skip_425698	110862102	110862301	110862131	110862131	Frame_Shift_Del	G	-	p.G53fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_425705	110864410	110864591	110864428	110864428	Frame_Shift_Del	A	-	p.K116fs
LIHC	TCGA-DD-A3A0-01	exon_skip_425710	110882023	110882145	110882039	110882039	Frame_Shift_Del	T	-	p.A361fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_425710	110882023	110882145	110882039	110882039	Frame_Shift_Del	T	-	p.A361fs
LIHC	TCGA-DD-A39Y-01	exon_skip_425711	110890127	110890275	110890197	110890197	Frame_Shift_Del	T	-	p.L549fs
LIHC	TCGA-DD-A3A1-01	exon_skip_425718	110914403	110914525	110914422	110914422	Frame_Shift_Del	G	-	p.L918fs
LIHC	TCGA-BC-A3KG-01	exon_skip_425736	110920835	110921002	110920984	110920984	Frame_Shift_Del	G	-	p.W1052fs
THYM	TCGA-ZB-A96V-01	exon_skip_425698	110862102	110862301	110862173	110862173	Nonsense_Mutation	G	T	p.E67X
SKCM	TCGA-D3-A3CF-06	exon_skip_425710	110882023	110882145	110882136	110882136	Nonsense_Mutation	C	T	p.R394*
SKCM	TCGA-EB-A3XD-01	exon_skip_425710	110882023	110882145	110882145	110882145	Nonsense_Mutation	C	T	p.Q397X
HNSC	TCGA-BA-4075-01	exon_skip_425711	110890127	110890275	110890205	110890205	Nonsense_Mutation	G	T	p.E552*
UCEC	TCGA-D1-A17M-01	exon_skip_425711	110890127	110890275	110890263	110890263	Nonsense_Mutation	G	A	p.W571*
BLCA	TCGA-FD-A6TE-01	exon_skip_425739 exon_skip_425740	110925661	110925778	110925665	110925665	Nonsense_Mutation	C	T	p.Q1060*
LIHC	TCGA-RC-A7SF-01	exon_skip_425739 exon_skip_425740	110925661	110925778	110925746	110925746	Nonsense_Mutation	G	T	p.E1087*
LIHC	TCGA-RC-A7SF-01	exon_skip_425739 exon_skip_425740	110925661	110925778	110925746	110925746	Nonsense_Mutation	G	T	p.E1087X
UCEC	TCGA-AX-A05Z-01	exon_skip_425744	110929308	110929386	110929323	110929323	Nonsense_Mutation	G	T	p.E1103*
UCEC	TCGA-BS-A0UF-01	exon_skip_425744	110929308	110929386	110929323	110929323	Nonsense_Mutation	G	T	p.E1103*
UCEC	TCGA-D1-A17Q-01	exon_skip_425698	110862102	110862301	110862302	110862302	Splice_Site	G	A	e2+1
LUSC	TCGA-66-2793-01	exon_skip_425705	110864410	110864591	110864592	110864592	Splice_Site	G	A	p.R170_splice
UVM	TCGA-YZ-A985-01	exon_skip_425710	110882023	110882145	110882146	110882146	Splice_Site	G	A	.
UCEC	TCGA-B5-A11N-01	exon_skip_425710	110882023	110882145	110882147	110882147	Splice_Site	T	C	e7+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
LS180_LARGE_INTESTINE	110920835	110921002	110920984	110920984	Frame_Shift_Del	G	-	p.W1052fs
SNU81_LARGE_INTESTINE	110862102	110862301	110862124	110862124	Missense_Mutation	C	A	p.F50L
NCIH1573_LUNG	110864410	110864591	110864449	110864449	Missense_Mutation	A	G	p.I123V
KP1N_PANCREAS	110880468	110880593	110880477	110880477	Missense_Mutation	T	G	p.L317R
R262_CENTRAL_NERVOUS_SYSTEM	110880468	110880593	110880502	110880502	Missense_Mutation	C	G	p.C325W
BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	110880468	110880593	110880536	110880536	Missense_Mutation	C	T	p.H337Y
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	110880468	110880593	110880563	110880563	Missense_Mutation	G	A	p.A346T
EFO27_OVARY	110880468	110880593	110880579	110880579	Missense_Mutation	G	A	p.R351Q
SW48_LARGE_INTESTINE	110882023	110882145	110882058	110882058	Missense_Mutation	A	G	p.T368A
8305C_THYROID	110882023	110882145	110882137	110882137	Missense_Mutation	G	A	p.R394Q
SW684_SOFT_TISSUE	110882023	110882145	110882137	110882137	Missense_Mutation	G	A	p.R394Q
AGS_STOMACH	110890127	110890275	110890254	110890254	Missense_Mutation	G	T	p.R568I
HOS_BONE	110908900	110909016	110908992	110908992	Missense_Mutation	G	A	p.A862T
UMUC16_URINARY_TRACT	110908900	110909016	110909014	110909014	Missense_Mutation	C	G	p.S869C
HTCC3_THYROID	110914403	110914525	110914456	110914456	Missense_Mutation	A	G	p.T930A
WM88_SKIN	110915889	110916036	110915907	110915907	Missense_Mutation	A	G	p.H959R
NCIH1436_LUNG	110915889	110916036	110915951	110915951	Missense_Mutation	T	C	p.S974P
SNU324_PANCREAS	110920835	110921002	110920869	110920869	Missense_Mutation	T	C	p.Y1014H
HEC151_ENDOMETRIUM	110920835	110921002	110920889	110920889	Missense_Mutation	G	T	p.W1020C
AN3CA_ENDOMETRIUM	110920835	110921002	110920896	110920896	Missense_Mutation	C	T	p.R1023C
HEC108_ENDOMETRIUM	110920835	110921002	110920966	110920966	Missense_Mutation	T	A	p.L1046Q
SNU175_LARGE_INTESTINE	110920835	110921002	110920983	110920983	Missense_Mutation	T	C	p.W1052R
DMS79_LUNG	110925661	110925778	110925714	110925714	Missense_Mutation	G	A	p.R1076K
HC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	110890127	110890275	110890127	110890127	Splice_Site	A	G	p.I526V
SNU175_LARGE_INTESTINE	110920835	110921002	110920835	110920835	Splice_Site	C	T	p.N1002N

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

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 EGF

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

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RelatedDrugs for EGF

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
	P01133	DB00364	Sucralfate	Pro-epidermal growth factor	small molecule	approved
	P01133	DB08862	Cholecystokinin	Pro-epidermal growth factor	small molecule	approved\|investigational

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RelatedDiseases for EGF

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
EGF	C0027626	Neoplasm Invasiveness	4	CTD_human
EGF	C0007621	Neoplastic Cell Transformation	3	CTD_human
EGF	C1458155	Mammary Neoplasms	3	CTD_human
EGF	C0001973	Alcoholic Intoxication, Chronic	2	PSYGENET
EGF	C0027627	Neoplasm Metastasis	2	CTD_human
EGF	C0038358	Gastric ulcer	2	CTD_human
EGF	C0001418	Adenocarcinoma	1	CTD_human
EGF	C0004352	Autistic Disorder	1	CTD_human
EGF	C0008925	Cleft Palate	1	CTD_human
EGF	C0017636	Glioblastoma	1	CTD_human
EGF	C0022658	Kidney Diseases	1	CTD_human
EGF	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
EGF	C0025568	Metaplasia	1	CTD_human
EGF	C0032927	Precancerous Conditions	1	CTD_human
EGF	C0033578	Prostatic Neoplasms	1	CTD_human
EGF	C0034069	Pulmonary Fibrosis	1	CTD_human
EGF	C0035126	Reperfusion Injury	1	CTD_human
EGF	C0036341	Schizophrenia	1	PSYGENET
EGF	C0041696	Unipolar Depression	1	PSYGENET
EGF	C1269683	Major Depressive Disorder	1	PSYGENET
EGF	C2239176	Liver carcinoma	1	CTD_human
EGF	C2673648	Hypomagnesemia 4, Renal	1	CTD_human;UNIPROT
EGF	C3495559	Juvenile arthritis	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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