ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for EPS15

Gene summary

Gene information	Gene symbol	EPS15
	Gene ID	2060
	Gene name	epidermal growth factor receptor pathway substrate 15
	Synonyms	AF-1P\|AF1P\|MLLT5
	Cytomap	1p32.3
	Type of gene	protein-coding
	Description	epidermal growth factor receptor substrate 15ALL1 fused gene from chromosome 1protein AF-1p
	Modification date	20180522
	UniProtAcc	P42566
	Context	PubMed: EPS15 [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
EPS15	GO:0048268	clathrin coat assembly	12807910

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Exon skipping events across known transcript of Ensembl for EPS15 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 EPS15

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 EPS15

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_26737	1	51821980:51822518:51826842:51827027:51829537:51829700	51826842:51827027	ENSG00000085832.12	ENST00000371733.3,ENST00000396122.4,ENST00000371730.2
exon_skip_26740	1	51860090:51860119:51862782:51862883:51864703:51864837	51862782:51862883	ENSG00000085832.12	ENST00000486505.1
exon_skip_26741	1	51860090:51860119:51864703:51864837:51866589:51866625	51864703:51864837	ENSG00000085832.12	ENST00000371733.3,ENST00000478657.1,ENST00000396122.4,ENST00000371730.2
exon_skip_26744	1	51864703:51864837:51866589:51866625:51868106:51868197	51866589:51866625	ENSG00000085832.12	ENST00000371733.3,ENST00000396122.4,ENST00000486505.1,ENST00000371730.2
exon_skip_26746	1	51866589:51866625:51868106:51868197:51869090:51869123	51868106:51868197	ENSG00000085832.12	ENST00000371733.3,ENST00000396122.4,ENST00000486505.1,ENST00000371730.2
exon_skip_26747	1	51868106:51868197:51869090:51869204:51871576:51871780	51869090:51869204	ENSG00000085832.12	ENST00000371733.3,ENST00000396122.4
exon_skip_26748	1	51869100:51869204:51871576:51871780:51873806:51874004	51871576:51871780	ENSG00000085832.12	ENST00000371733.3,ENST00000396122.4,ENST00000493793.1
exon_skip_26751	1	51871576:51871780:51873806:51874004:51875206:51875368	51873806:51874004	ENSG00000085832.12	ENST00000371733.3,ENST00000396122.4,ENST00000493793.1
exon_skip_26753	1	51875206:51875368:51887457:51887530:51906018:51906104	51887457:51887530	ENSG00000085832.12	ENST00000371733.3,ENST00000371730.2
exon_skip_26758	1	51887457:51887530:51906018:51906104:51910560:51910717	51906018:51906104	ENSG00000085832.12	ENST00000371733.3,ENST00000371730.2
exon_skip_26765	1	51912631:51912777:51913717:51913807:51926762:51926822	51913717:51913807	ENSG00000085832.12	ENST00000371733.3,ENST00000371730.2
exon_skip_26768	1	51913717:51913807:51926762:51926822:51929344:51929421	51926762:51926822	ENSG00000085832.12	ENST00000371733.3,ENST00000371730.2
exon_skip_26769	1	51924067:51924405:51924712:51924820:51926762:51926822	51924712:51924820	ENSG00000085832.12	ENST00000464478.1
exon_skip_26770	1	51926794:51926822:51929344:51929470:51930932:51930998	51929344:51929470	ENSG00000085832.12	ENST00000371733.3,ENST00000464478.1,ENST00000371730.2,ENST00000471391.1,ENST00000371727.1
exon_skip_26773	1	51930938:51930998:51934144:51934240:51937361:51937409	51934144:51934240	ENSG00000085832.12	ENST00000371733.3,ENST00000371730.2,ENST00000471391.1,ENST00000371727.1
exon_skip_26774	1	51938530:51938620:51946944:51946986:51984870:51984899	51946944:51946986	ENSG00000085832.12	ENST00000371733.3,ENST00000465467.1,ENST00000471391.1,ENST00000371727.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for EPS15

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_26737	1	51821980:51822518:51826842:51827027:51829537:51829700	51826842:51827027	ENSG00000085832.12	ENST00000371730.2,ENST00000371733.3,ENST00000396122.4
exon_skip_26740	1	51860090:51860119:51862782:51862883:51864703:51864837	51862782:51862883	ENSG00000085832.12	ENST00000486505.1
exon_skip_26741	1	51860090:51860119:51864703:51864837:51866589:51866625	51864703:51864837	ENSG00000085832.12	ENST00000371730.2,ENST00000371733.3,ENST00000396122.4,ENST00000478657.1
exon_skip_26744	1	51864703:51864837:51866589:51866625:51868106:51868197	51866589:51866625	ENSG00000085832.12	ENST00000371730.2,ENST00000371733.3,ENST00000396122.4,ENST00000486505.1
exon_skip_26746	1	51866589:51866625:51868106:51868197:51869090:51869123	51868106:51868197	ENSG00000085832.12	ENST00000371730.2,ENST00000371733.3,ENST00000396122.4,ENST00000486505.1
exon_skip_26747	1	51868106:51868197:51869090:51869204:51871576:51871780	51869090:51869204	ENSG00000085832.12	ENST00000371733.3,ENST00000396122.4
exon_skip_26748	1	51869100:51869204:51871576:51871780:51873806:51874004	51871576:51871780	ENSG00000085832.12	ENST00000371733.3,ENST00000396122.4,ENST00000493793.1
exon_skip_26751	1	51871576:51871780:51873806:51874004:51875206:51875368	51873806:51874004	ENSG00000085832.12	ENST00000371733.3,ENST00000396122.4,ENST00000493793.1
exon_skip_26753	1	51875206:51875368:51887457:51887530:51906018:51906104	51887457:51887530	ENSG00000085832.12	ENST00000371730.2,ENST00000371733.3
exon_skip_26758	1	51887457:51887530:51906018:51906104:51910560:51910717	51906018:51906104	ENSG00000085832.12	ENST00000371730.2,ENST00000371733.3
exon_skip_26765	1	51912631:51912777:51913717:51913807:51926762:51926822	51913717:51913807	ENSG00000085832.12	ENST00000371730.2,ENST00000371733.3
exon_skip_26768	1	51913717:51913807:51926762:51926822:51929344:51929421	51926762:51926822	ENSG00000085832.12	ENST00000371730.2,ENST00000371733.3
exon_skip_26769	1	51924067:51924405:51924712:51924820:51926762:51926822	51924712:51924820	ENSG00000085832.12	ENST00000464478.1
exon_skip_26770	1	51926794:51926822:51929344:51929470:51930932:51930998	51929344:51929470	ENSG00000085832.12	ENST00000371730.2,ENST00000371733.3,ENST00000371727.1,ENST00000464478.1,ENST00000471391.1
exon_skip_26773	1	51930938:51930998:51934144:51934240:51937361:51937409	51934144:51934240	ENSG00000085832.12	ENST00000371730.2,ENST00000371733.3,ENST00000371727.1,ENST00000471391.1
exon_skip_26774	1	51938530:51938620:51946944:51946986:51984870:51984899	51946944:51946986	ENSG00000085832.12	ENST00000371733.3,ENST00000371727.1,ENST00000471391.1,ENST00000465467.1

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 EPS15

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
ENST00000371733	51826842	51827027	Frame-shift
ENST00000371733	51864703	51864837	Frame-shift
ENST00000371733	51868106	51868197	Frame-shift
ENST00000371733	51887457	51887530	Frame-shift
ENST00000371733	51906018	51906104	Frame-shift
ENST00000371733	51866589	51866625	In-frame
ENST00000371733	51869090	51869204	In-frame
ENST00000371733	51871576	51871780	In-frame
ENST00000371733	51873806	51874004	In-frame
ENST00000371733	51913717	51913807	In-frame
ENST00000371733	51926762	51926822	In-frame
ENST00000371733	51929344	51929470	In-frame
ENST00000371733	51934144	51934240	In-frame
ENST00000371733	51946944	51946986	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
ENST00000371733	51826842	51827027	Frame-shift
ENST00000371733	51864703	51864837	Frame-shift
ENST00000371733	51868106	51868197	Frame-shift
ENST00000371733	51887457	51887530	Frame-shift
ENST00000371733	51906018	51906104	Frame-shift
ENST00000371733	51866589	51866625	In-frame
ENST00000371733	51869090	51869204	In-frame
ENST00000371733	51871576	51871780	In-frame
ENST00000371733	51873806	51874004	In-frame
ENST00000371733	51913717	51913807	In-frame
ENST00000371733	51926762	51926822	In-frame
ENST00000371733	51929344	51929470	In-frame
ENST00000371733	51934144	51934240	In-frame
ENST00000371733	51946944	51946986	In-frame

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Infer the effects of exon skipping event on protein functional features for EPS15

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
ENST00000371733	5242	896	51946944	51946986	131	172	11	25
ENST00000371733	5242	896	51934144	51934240	311	406	71	103
ENST00000371733	5242	896	51929344	51929470	473	598	125	167
ENST00000371733	5242	896	51926762	51926822	599	658	167	187
ENST00000371733	5242	896	51913717	51913807	659	748	187	217
ENST00000371733	5242	896	51873806	51874004	1373	1570	425	491
ENST00000371733	5242	896	51871576	51871780	1571	1774	491	559
ENST00000371733	5242	896	51869090	51869204	1775	1888	559	597
ENST00000371733	5242	896	51866589	51866625	1980	2015	627	639

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
ENST00000371733	5242	896	51946944	51946986	131	172	11	25
ENST00000371733	5242	896	51934144	51934240	311	406	71	103
ENST00000371733	5242	896	51929344	51929470	473	598	125	167
ENST00000371733	5242	896	51926762	51926822	599	658	167	187
ENST00000371733	5242	896	51913717	51913807	659	748	187	217
ENST00000371733	5242	896	51873806	51874004	1373	1570	425	491
ENST00000371733	5242	896	51871576	51871780	1571	1774	491	559
ENST00000371733	5242	896	51869090	51869204	1775	1888	559	597
ENST00000371733	5242	896	51866589	51866625	1980	2015	627	639

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
P42566	11	25	1	314	Alternative sequence	ID=VSP_036168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P42566	11	25	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	11	25	15	104	Domain	Note=EH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	11	25	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	71	103	1	314	Alternative sequence	ID=VSP_036168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P42566	71	103	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	71	103	15	104	Domain	Note=EH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	71	103	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	125	167	1	314	Alternative sequence	ID=VSP_036168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P42566	125	167	142	144	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	167	145	147	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JXC
P42566	125	167	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	125	167	128	216	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	125	167	160	195	Domain	Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
P42566	125	167	126	136	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	167	148	156	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	167	162	172	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	167	140	140	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P42566	125	167	154	154	Mutagenesis	Note=Loss of interaction with STON2 NPF motifs. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18200045;Dbxref=PMID:18200045
P42566	125	167	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	125	167	157	159	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	167	187	1	314	Alternative sequence	ID=VSP_036168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P42566	167	187	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	167	187	173	184	Calcium binding	Note=1
P42566	167	187	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	167	187	128	216	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	167	187	160	195	Domain	Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
P42566	167	187	162	172	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	167	187	182	197	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	167	187	169	169	Mutagenesis	Note=Loss of interaction with STON2 NPF motifs. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18200045;Dbxref=PMID:18200045
P42566	167	187	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	187	217	1	314	Alternative sequence	ID=VSP_036168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P42566	187	217	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	187	217	128	216	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	187	217	160	195	Domain	Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
P42566	187	217	182	197	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	187	217	212	214	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1F8H
P42566	187	217	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	187	217	207	209	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	425	491	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	425	491	467	467	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P42566	425	491	470	470	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P42566	425	491	485	485	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17525332,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:21406692;Dbxref=PMID:17525332,PMID:18669648,PMID:21406692
P42566	425	491	446	446	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42566	491	559	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	559	597	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	559	597	562	562	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P42567
P42566	559	597	563	563	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P42567
P42566	627	639	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	627	639	599	827	Region	Note=15 X 3 AA repeats of D-P-F
P42566	627	639	629	631	Repeat	Note=3
P42566	627	639	634	636	Repeat	Note=4
P42566	627	639	624	627	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JP2
P42566	627	639	630	633	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JP2

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
P42566	11	25	1	314	Alternative sequence	ID=VSP_036168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P42566	11	25	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	11	25	15	104	Domain	Note=EH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	11	25	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	71	103	1	314	Alternative sequence	ID=VSP_036168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P42566	71	103	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	71	103	15	104	Domain	Note=EH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	71	103	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	125	167	1	314	Alternative sequence	ID=VSP_036168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P42566	125	167	142	144	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	167	145	147	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JXC
P42566	125	167	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	125	167	128	216	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	125	167	160	195	Domain	Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
P42566	125	167	126	136	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	167	148	156	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	167	162	172	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	167	140	140	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P42566	125	167	154	154	Mutagenesis	Note=Loss of interaction with STON2 NPF motifs. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18200045;Dbxref=PMID:18200045
P42566	125	167	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	125	167	157	159	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	167	187	1	314	Alternative sequence	ID=VSP_036168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P42566	167	187	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	167	187	173	184	Calcium binding	Note=1
P42566	167	187	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	167	187	128	216	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	167	187	160	195	Domain	Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
P42566	167	187	162	172	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	167	187	182	197	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	167	187	169	169	Mutagenesis	Note=Loss of interaction with STON2 NPF motifs. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18200045;Dbxref=PMID:18200045
P42566	167	187	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	187	217	1	314	Alternative sequence	ID=VSP_036168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P42566	187	217	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	187	217	128	216	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	187	217	160	195	Domain	Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
P42566	187	217	182	197	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	187	217	212	214	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1F8H
P42566	187	217	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	187	217	207	209	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	425	491	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	425	491	467	467	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P42566	425	491	470	470	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P42566	425	491	485	485	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17525332,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:21406692;Dbxref=PMID:17525332,PMID:18669648,PMID:21406692
P42566	425	491	446	446	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42566	491	559	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	559	597	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	559	597	562	562	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P42567
P42566	559	597	563	563	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P42567
P42566	627	639	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	627	639	599	827	Region	Note=15 X 3 AA repeats of D-P-F
P42566	627	639	629	631	Repeat	Note=3
P42566	627	639	634	636	Repeat	Note=4
P42566	627	639	624	627	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JP2
P42566	627	639	630	633	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JP2

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SNVs in the skipped exons for EPS15

- 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-G3-A3CJ-01	exon_skip_26737	51826843	51827027	51826917	51826917	Frame_Shift_Del	A	-	p.C824fs
COAD	TCGA-CK-5913-01	exon_skip_26737	51826843	51827027	51827022	51827022	Frame_Shift_Del	T	-	p.R789fs
LIHC	TCGA-DD-A1EG-01	exon_skip_26744	51866590	51866625	51866593	51866593	Frame_Shift_Del	T	-	p.I639fs
LIHC	TCGA-DD-A39Y-01	exon_skip_26744	51866590	51866625	51866593	51866593	Frame_Shift_Del	T	-	p.I639fs
UCEC	TCGA-BG-A0LX-01	exon_skip_26746	51868107	51868197	51868130	51868130	Frame_Shift_Del	A	-	p.F620fs
LIHC	TCGA-BC-A3KG-01	exon_skip_26748	51871577	51871780	51871743	51871743	Frame_Shift_Del	T	-	p.N504fs
LIHC	TCGA-DD-A3A0-01	exon_skip_26751	51873807	51874004	51873990	51873990	Frame_Shift_Del	T	-	p.K430fs
LIHC	TCGA-DD-A1EG-01	exon_skip_26765	51913718	51913807	51913734	51913734	Frame_Shift_Del	G	-	p.P212fs
KIRC	TCGA-G6-A8L7-01	exon_skip_26765	51913718	51913807	51913788	51913795	Frame_Shift_Del	CAGTATAC	-	p.192_194del
LIHC	TCGA-DD-A1EG-01	exon_skip_26773	51934145	51934240	51934200	51934200	Frame_Shift_Del	T	-	p.N85fs
LIHC	TCGA-DD-A1EG-01	exon_skip_26773	51934145	51934240	51934232	51934232	Frame_Shift_Del	A	-	p.F74fs
PRAD	TCGA-HC-7081-01	exon_skip_26747	51869091	51869204	51869093	51869093	Nonsense_Mutation	C	A	p.E597*
BLCA	TCGA-E5-A4TZ-01	exon_skip_26747	51869091	51869204	51869162	51869162	Nonsense_Mutation	C	A	p.E574*
READ	TCGA-AG-A002-01	exon_skip_26748	51871577	51871780	51871633	51871633	Nonsense_Mutation	C	A	p.E227X
LUSC	TCGA-33-4538-01	exon_skip_26774	51946945	51946986	51946954	51946954	Nonsense_Mutation	G	C	p.Y22*
PRAD	TCGA-CH-5764-01	exon_skip_26737	51826843	51827027	51826841	51826841	Splice_Site	A	G	.
SKCM	TCGA-EB-A3Y6-01	exon_skip_26741	51864704	51864837	51864702	51864702	Splice_Site	A	G	.

- 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
BICR18_UPPER_AERODIGESTIVE_TRACT	51826843	51827027	51826896	51826896	Frame_Shift_Del	T	-	p.T834fs
BICR18_UPPER_AERODIGESTIVE_TRACT	51826843	51827027	51826898	51826899	Frame_Shift_Del	GC	-	p.A830fs
SISO_CERVIX	51868107	51868197	51868130	51868130	Frame_Shift_Del	A	-	p.F620fs
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	51868107	51868197	51868130	51868130	Frame_Shift_Del	A	-	p.F620fs
SNU175_LARGE_INTESTINE	51826843	51827027	51826865	51826865	Missense_Mutation	C	T	p.S841N
MFE319_ENDOMETRIUM	51826843	51827027	51826939	51826939	Missense_Mutation	T	G	p.K816N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	51826843	51827027	51826989	51826989	Missense_Mutation	A	G	p.F800L
BICR18_UPPER_AERODIGESTIVE_TRACT	51826843	51827027	51826989	51826989	Missense_Mutation	A	G	p.F800L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	51826843	51827027	51826998	51826998	Missense_Mutation	G	A	p.P797S
BICR18_UPPER_AERODIGESTIVE_TRACT	51826843	51827027	51826998	51826998	Missense_Mutation	G	A	p.P797S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	51826843	51827027	51827019	51827019	Missense_Mutation	A	G	p.S790P
BICR18_UPPER_AERODIGESTIVE_TRACT	51826843	51827027	51827019	51827019	Missense_Mutation	A	G	p.S790P
HEC6_ENDOMETRIUM	51868107	51868197	51868122	51868122	Missense_Mutation	C	T	p.D623N
OSC19_UPPER_AERODIGESTIVE_TRACT	51869091	51869204	51869174	51869174	Missense_Mutation	C	G	p.G570R
DMS153_LUNG	51871577	51871780	51871683	51871683	Missense_Mutation	G	A	p.T524I
BT474_BREAST	51871577	51871780	51871689	51871689	Missense_Mutation	C	T	p.G522E
LS513_LARGE_INTESTINE	51873807	51874004	51873898	51873898	Missense_Mutation	G	T	p.T461K
HCC1588_LUNG	51873807	51874004	51873898	51873898	Missense_Mutation	G	T	p.T461K
MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	51873807	51874004	51873914	51873914	Missense_Mutation	G	A	p.R456C
HCT15_LARGE_INTESTINE	51873807	51874004	51873994	51873994	Missense_Mutation	A	G	p.L429P
HRT18_LARGE_INTESTINE	51873807	51874004	51873994	51873994	Missense_Mutation	A	G	p.L429P
SNU1040_LARGE_INTESTINE	51887458	51887530	51887469	51887469	Missense_Mutation	T	C	p.S368G
HEC251_ENDOMETRIUM	51887458	51887530	51887524	51887524	Missense_Mutation	C	A	p.K349N
BICR18_UPPER_AERODIGESTIVE_TRACT	51906019	51906104	51906097	51906097	Missense_Mutation	A	G	p.I321T
NCIH2172_LUNG	51913718	51913807	51913747	51913747	Missense_Mutation	C	A	p.A208S
NCIH838_LUNG	51913718	51913807	51913750	51913750	Missense_Mutation	G	C	p.P207A
BICR18_UPPER_AERODIGESTIVE_TRACT	51926763	51926822	51926788	51926788	Missense_Mutation	A	T	p.M179K
CAL78_BONE	51926763	51926822	51926803	51926803	Missense_Mutation	A	G	p.I174T
BICR18_UPPER_AERODIGESTIVE_TRACT	51929345	51929470	51929357	51929357	Missense_Mutation	A	T	p.D163E
SW480_LARGE_INTESTINE	51929345	51929470	51929409	51929409	Missense_Mutation	A	C	p.L146R
BICR18_UPPER_AERODIGESTIVE_TRACT	51929345	51929470	51929419	51929419	Missense_Mutation	T	C	p.N143D
NCIH2286_LUNG	51929345	51929470	51929462	51929462	Missense_Mutation	A	T	p.D128E
HEC108_ENDOMETRIUM	51934145	51934240	51934164	51934164	Missense_Mutation	G	A	p.A97V
HT115_LARGE_INTESTINE	51934145	51934240	51934235	51934235	Missense_Mutation	G	T	p.F73L
NCIH2342_LUNG	51946945	51946986	51946949	51946949	Missense_Mutation	C	G	p.R24T
NCIH2342_LUNG	51946945	51946986	51946962	51946962	Missense_Mutation	C	G	p.E20Q
SNU1077_ENDOMETRIUM	51868107	51868197	51868108	51868108	Splice_Site	G	T	p.G627G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPS15

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 EPS15

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPS15

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RelatedDrugs for EPS15

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 EPS15

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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