ExonSkipAD: 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	20200313
	UniProtAcc	A0A4D6WHI2, B1AUU8, P42566, S4R3U1,
	Context	- 24373286(A function for EHD family proteins in unidirectional retrograde dendritic transport of BACE1 and Alzheimer's disease Abeta production)

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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Gene structures and expression levels for EPS15

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000085832

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
PCC	UP	ENST00000371730.6	EPS15-202:protein_coding:EPS15	1.167537e+02	1.463621e+00	1.088040e-04	6.436397e-03
CB	DOWN	ENST00000371730.6	EPS15-202:protein_coding:EPS15	8.892452e+02	-1.550495e+00	1.650829e-04	1.132191e-03
CB	DOWN	ENST00000478657.1	EPS15-207:retained_intron:EPS15	3.376324e+00	-8.880560e-01	1.741541e-04	1.184174e-03
TC	DOWN	ENST00000371730.6	EPS15-202:protein_coding:EPS15	7.724024e+02	-1.650971e+00	6.552192e-04	7.111357e-03

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EPS15

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_120915	chr1	51409535:51409696:51421786:51421858:51440347:51440432	51421786:51421858
exon_skip_145188	chr1	51400918:51400953:51402435:51402525:51403419:51403451	51402435:51402525
exon_skip_146379	chr1	51458612:51458733:51459041:51459148:51461091:51461150	51459041:51459148
exon_skip_153429	chr1	51399032:51399165:51400918:51400953:51402435:51402525	51400918:51400953
exon_skip_154809	chr1	51448046:51448135:51461091:51461150:51463673:51463749	51461091:51461150
exon_skip_158579	chr1	51421786:51421858:51440347:51440432:51444889:51445045	51440347:51440432
exon_skip_214441	chr1	51403429:51403532:51405905:51406108:51408135:51408202	51405905:51406108
exon_skip_219871	chr1	51472859:51472948:51481273:51481314:51519199:51519227	51481273:51481314
exon_skip_225585	chr1	51354263:51356846:51361171:51361355:51363866:51364028	51361171:51361355
exon_skip_253881	chr1	51402435:51402525:51403419:51403532:51405905:51406108	51403419:51403532
exon_skip_265300	chr1	51402435:51402525:51403419:51403532:51405905:51405974	51403419:51403532
exon_skip_283260	chr1	51403429:51403532:51405905:51406108:51408135:51408332	51405905:51406108
exon_skip_284629	chr1	51446960:51447105:51448046:51448135:51461091:51461150	51448046:51448135
exon_skip_287165	chr1	51465267:51465326:51468473:51468568:51471690:51471737	51468473:51468568
exon_skip_290934	chr1	51461123:51461150:51463673:51463798:51465261:51465326	51463673:51463798
exon_skip_53287	chr1	51458396:51458733:51459041:51459148:51461091:51461150	51459041:51459148
exon_skip_55753	chr1	51406096:51406108:51408135:51408332:51409535:51409696	51408135:51408332
exon_skip_67530	chr1	51394419:51394447:51399032:51399165:51400918:51400953	51399032:51399165
exon_skip_96496	chr1	51405905:51406108:51408135:51408332:51409535:51409696	51408135:51408332

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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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 ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000371733	51399032	51399165	Frame-shift
ENST00000371733	51402435	51402525	Frame-shift
ENST00000371733	51421786	51421858	Frame-shift
ENST00000371733	51440347	51440432	Frame-shift
ENST00000371733	51403419	51403532	In-frame
ENST00000371733	51405905	51406108	In-frame
ENST00000371733	51408135	51408332	In-frame
ENST00000371733	51448046	51448135	In-frame
ENST00000371733	51461091	51461150	In-frame
ENST00000371733	51468473	51468568	In-frame
ENST00000371733	51481273	51481314	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000371733	51361171	51361355	Frame-shift
ENST00000371733	51399032	51399165	Frame-shift
ENST00000371733	51402435	51402525	Frame-shift
ENST00000371733	51421786	51421858	Frame-shift
ENST00000371733	51440347	51440432	Frame-shift
ENST00000371733	51403419	51403532	In-frame
ENST00000371733	51405905	51406108	In-frame
ENST00000371733	51408135	51408332	In-frame
ENST00000371733	51448046	51448135	In-frame
ENST00000371733	51468473	51468568	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000371733	51361171	51361355	Frame-shift
ENST00000371733	51399032	51399165	Frame-shift
ENST00000371733	51402435	51402525	Frame-shift
ENST00000371733	51421786	51421858	Frame-shift
ENST00000371733	51440347	51440432	Frame-shift
ENST00000371733	51400918	51400953	In-frame
ENST00000371733	51403419	51403532	In-frame
ENST00000371733	51405905	51406108	In-frame
ENST00000371733	51408135	51408332	In-frame
ENST00000371733	51448046	51448135	In-frame
ENST00000371733	51463673	51463798	In-frame
ENST00000371733	51468473	51468568	In-frame
ENST00000371733	51481273	51481314	In-frame

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

p-ENSG00000085832_img4.png
boxplot

Loci of skipped exons in ROSMAP 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	51481273	51481314	131	171	11	24
ENST00000371733	5242	896	51468473	51468568	311	405	71	102
ENST00000371733	5242	896	51461091	51461150	599	657	167	186
ENST00000371733	5242	896	51448046	51448135	659	747	187	216
ENST00000371733	5242	896	51408135	51408332	1373	1569	425	490
ENST00000371733	5242	896	51405905	51406108	1571	1773	491	558
ENST00000371733	5242	896	51403419	51403532	1775	1887	559	596

Loci of skipped exons in MSBB 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	51468473	51468568	311	405	71	102
ENST00000371733	5242	896	51448046	51448135	659	747	187	216
ENST00000371733	5242	896	51408135	51408332	1373	1569	425	490
ENST00000371733	5242	896	51405905	51406108	1571	1773	491	558
ENST00000371733	5242	896	51403419	51403532	1775	1887	559	596

Loci of skipped exons in Mayo 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	51481273	51481314	131	171	11	24
ENST00000371733	5242	896	51468473	51468568	311	405	71	102
ENST00000371733	5242	896	51463673	51463798	473	597	125	166
ENST00000371733	5242	896	51448046	51448135	659	747	187	216
ENST00000371733	5242	896	51408135	51408332	1373	1569	425	490
ENST00000371733	5242	896	51405905	51406108	1571	1773	491	558
ENST00000371733	5242	896	51403419	51403532	1775	1887	559	596
ENST00000371733	5242	896	51400918	51400953	1980	2014	627	639

Lost protein functional features of individual exon skipping events in ROSMAP.

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	24	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	24	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	11	24	15	104	Domain	Note=EH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	11	24	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	71	102	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	102	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	71	102	15	104	Domain	Note=EH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	71	102	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	167	186	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	186	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	167	186	173	184	Calcium binding	Note=1
P42566	167	186	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	167	186	128	216	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	167	186	160	195	Domain	Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
P42566	167	186	162	172	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	167	186	182	197	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	167	186	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	186	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	187	216	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	216	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	187	216	128	216	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	187	216	160	195	Domain	Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
P42566	187	216	182	197	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	187	216	212	214	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1F8H
P42566	187	216	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	187	216	207	209	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	425	490	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	425	490	467	467	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P42566	425	490	470	470	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P42566	425	490	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	490	446	446	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42566	491	558	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	559	596	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	559	596	562	562	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P42567
P42566	559	596	563	563	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P42567

Lost protein functional features of individual exon skipping events in MSBB.

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	71	102	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	102	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	71	102	15	104	Domain	Note=EH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	71	102	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	187	216	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	216	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	187	216	128	216	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	187	216	160	195	Domain	Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
P42566	187	216	182	197	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	187	216	212	214	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1F8H
P42566	187	216	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	187	216	207	209	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	425	490	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	425	490	467	467	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P42566	425	490	470	470	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P42566	425	490	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	490	446	446	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42566	491	558	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	559	596	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	559	596	562	562	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P42567
P42566	559	596	563	563	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P42567

Lost protein functional features of individual exon skipping events in Mayo.

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	24	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	24	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	11	24	15	104	Domain	Note=EH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	11	24	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	71	102	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	102	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	71	102	15	104	Domain	Note=EH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	71	102	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	125	166	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	166	142	144	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	166	145	147	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JXC
P42566	125	166	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	125	166	128	216	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	125	166	160	195	Domain	Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
P42566	125	166	126	136	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	166	148	156	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	166	162	172	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	125	166	140	140	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P42566	125	166	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	166	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	125	166	157	159	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	187	216	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	216	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	187	216	128	216	Domain	Note=EH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00077
P42566	187	216	160	195	Domain	Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00448
P42566	187	216	182	197	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	187	216	212	214	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1F8H
P42566	187	216	2	330	Region	Note=Interaction with DAB2;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42566	187	216	207	209	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1EH2
P42566	425	490	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	425	490	467	467	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P42566	425	490	470	470	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P42566	425	490	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	490	446	446	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42566	491	558	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	559	596	2	896	Chain	ID=PRO_0000146116;Note=Epidermal growth factor receptor substrate 15
P42566	559	596	562	562	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P42567
P42566	559	596	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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3'-UTR located exon skipping events that lost miRNA binding sites in EPS15

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for EPS15

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for EPS15

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

ADstage

MSBB

IFG

exon_skip_283260

-3.822570e-01

4.470000e-02

chr1

51403429

51403532

51405905

51406108

51408135

51408332

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

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for EPS15

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	PABPC1	exon_skip_284629	-4.186507e-01	9.742148e-08

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RelatedDrugs for EPS15

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for EPS15

Gene structures and expression levels for EPS15

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EPS15

Open reading frame (ORF) annotation in the exon skipping event for EPS15

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

3'-UTR located exon skipping events that lost miRNA binding sites in EPS15

SNVs in the skipped exons for EPS15

AD stage-associated exon skippint events for EPS15

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

Correlation with RNA binding proteins (RBPs) for EPS15

RelatedDrugs for EPS15

RelatedDiseases for EPS15