ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PREPL

Gene summary

Gene information	Gene symbol	PREPL
	Gene ID	9581
	Gene name	prolyl endopeptidase like
	Synonyms	CMS22
	Cytomap	2p21
	Type of gene	protein-coding
	Description	prolyl endopeptidase-likeputative prolyl oligopeptidase
	Modification date	20200313
	UniProtAcc	C9JMT4, H7BZP6, H7C0M0, Q4J6C6,
	Context	- 23485813(Cellular and ultra structural evidence for cytoskeletal localization of prolyl endopeptidase-like protein in neurons)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

Top

Gene structures and expression levels for PREPL

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.

ENSG00000138078

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
DLPFC	DOWN	ENST00000444696.5	PREPL-213:protein_coding:PREPL	3.659558e+00	-8.795323e-01	6.835669e-04	2.624745e-02
HCC	DOWN	ENST00000444696.5	PREPL-213:protein_coding:PREPL	4.880739e+00	-9.644298e-01	3.582436e-06	6.703917e-04
PG	DOWN	ENST00000420756.1	PREPL-209:protein_coding:PREPL	3.859143e+01	-8.101882e-01	3.454012e-09	1.116528e-06
CB	UP	ENST00000540817.1	PREPL-215:lncRNA:PREPL	6.060749e+00	2.337280e+00	6.388362e-08	1.452129e-06
CB	UP	ENST00000409936.5	PREPL-206:protein_coding:PREPL	1.795012e+02	1.922741e+00	8.875037e-06	9.541201e-05
CB	UP	ENST00000410081.5	PREPL-208:protein_coding:PREPL	3.185251e+01	1.140411e+00	2.081087e-05	1.956618e-04
CB	UP	ENST00000378520.7	PREPL-203:protein_coding:PREPL	1.059719e+01	8.551051e-01	2.244765e-03	1.013730e-02
TC	UP	ENST00000409936.5	PREPL-206:protein_coding:PREPL	5.020332e+01	2.118206e+00	1.718838e-05	3.982423e-04

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

Top

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

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_119074	chr2	44332459:44332656:44338351:44338536:44339147:44339254	44338351:44338536
exon_skip_126346	chr2	44347253:44347323:44356231:44356368:44361380:44361546	44356231:44356368
exon_skip_128932	chr2	44332554:44332656:44338351:44338536:44339147:44339363	44338351:44338536
exon_skip_135355	chr2	44344520:44344586:44346268:44346390:44359497:44359596	44346268:44346390
exon_skip_136570	chr2	44328937:44329112:44332459:44332656:44338351:44338392	44332459:44332656
exon_skip_143755	chr2	44328937:44329112:44338351:44338536:44339147:44339363	44338351:44338536
exon_skip_152887	chr2	44323262:44323411:44326712:44326928:44328937:44329112	44326712:44326928
exon_skip_158264	chr2	44346299:44346390:44359497:44360038:44361380:44361493	44359497:44360038
exon_skip_160036	chr2	44346299:44346390:44359497:44359750:44361380:44361493	44359497:44359750
exon_skip_164372	chr2	44332459:44332656:44338351:44338536:44339147:44339330	44338351:44338536
exon_skip_169957	chr2	44321432:44321445:44321827:44321900:44322731:44322854	44321827:44321900
exon_skip_174963	chr2	44347210:44347323:44356231:44356368:44361380:44361546	44356231:44356368
exon_skip_179263	chr2	44344520:44344586:44346268:44346390:44359497:44359749	44346268:44346390
exon_skip_216213	chr2	44344520:44344586:44346268:44346390:44361380:44361493	44346268:44346390
exon_skip_222204	chr2	44332459:44332656:44338351:44338536:44339147:44339334	44338351:44338536
exon_skip_239858	chr2	44321292:44321445:44321827:44321900:44322731:44322854	44321827:44321900
exon_skip_248235	chr2	44343908:44343951:44344520:44344586:44346268:44346381	44344520:44344586
exon_skip_271308	chr2	44328937:44329112:44332459:44332656:44338351:44338536	44332459:44332656
exon_skip_274901	chr2	44332459:44332656:44338351:44338536:44339147:44339363	44338351:44338536
exon_skip_286973	chr2	44346299:44346390:44359497:44359750:44361524:44361805	44359497:44359750
exon_skip_3005	chr2	44343908:44343951:44346268:44346390:44361524:44361805	44346268:44346390
exon_skip_505	chr2	44346299:44346390:44359497:44359750:44360619:44360676	44359497:44359750
exon_skip_60118	chr2	44321073:44321445:44321827:44321900:44322731:44322854	44321827:44321900
exon_skip_72015	chr2	44322731:44322854:44323262:44323411:44326712:44326928	44323262:44323411
exon_skip_73678	chr2	44344520:44344586:44346268:44346390:44361417:44361561	44346268:44346390
exon_skip_80729	chr2	44343805:44343951:44344520:44344586:44346268:44346381	44344520:44344586
exon_skip_91809	chr2	44328937:44329112:44332459:44332656:44339147:44339363	44332459:44332656
exon_skip_96932	chr2	44359497:44359750:44360619:44360676:44361380:44361493	44360619:44360676
exon_skip_992	chr2	44339147:44339363:44342417:44342552:44343745:44343948	44342417:44342552

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

Top

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

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
ENST00000409272	44359497	44359750	3UTR-3CDS
ENST00000409936	44359497	44360038	3UTR-3CDS
ENST00000410081	44359497	44359750	3UTR-3CDS
ENST00000260648	44321827	44321900	Frame-shift
ENST00000409272	44321827	44321900	Frame-shift
ENST00000409936	44321827	44321900	Frame-shift
ENST00000410081	44321827	44321900	Frame-shift
ENST00000260648	44342417	44342552	Frame-shift
ENST00000409272	44342417	44342552	Frame-shift
ENST00000409936	44342417	44342552	Frame-shift
ENST00000410081	44342417	44342552	Frame-shift
ENST00000260648	44344520	44344586	Frame-shift
ENST00000409272	44344520	44344586	Frame-shift
ENST00000409936	44344520	44344586	Frame-shift
ENST00000410081	44344520	44344586	Frame-shift
ENST00000260648	44323262	44323411	In-frame
ENST00000409272	44323262	44323411	In-frame
ENST00000409936	44323262	44323411	In-frame
ENST00000410081	44323262	44323411	In-frame
ENST00000260648	44332459	44332656	In-frame
ENST00000409272	44332459	44332656	In-frame
ENST00000409936	44332459	44332656	In-frame
ENST00000410081	44332459	44332656	In-frame
ENST00000260648	44338351	44338536	In-frame
ENST00000409272	44338351	44338536	In-frame
ENST00000409936	44338351	44338536	In-frame
ENST00000410081	44338351	44338536	In-frame
ENST00000260648	44346268	44346390	In-frame
ENST00000409272	44346268	44346390	In-frame
ENST00000409936	44346268	44346390	In-frame
ENST00000410081	44346268	44346390	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
ENST00000409936	44359497	44360038	3UTR-3CDS
ENST00000410081	44359497	44359750	3UTR-3CDS
ENST00000260648	44321827	44321900	Frame-shift
ENST00000409272	44321827	44321900	Frame-shift
ENST00000409936	44321827	44321900	Frame-shift
ENST00000410081	44321827	44321900	Frame-shift
ENST00000260648	44326712	44326928	Frame-shift
ENST00000409272	44326712	44326928	Frame-shift
ENST00000409936	44326712	44326928	Frame-shift
ENST00000410081	44326712	44326928	Frame-shift
ENST00000260648	44344520	44344586	Frame-shift
ENST00000409272	44344520	44344586	Frame-shift
ENST00000409936	44344520	44344586	Frame-shift
ENST00000410081	44344520	44344586	Frame-shift
ENST00000260648	44332459	44332656	In-frame
ENST00000409272	44332459	44332656	In-frame
ENST00000409936	44332459	44332656	In-frame
ENST00000410081	44332459	44332656	In-frame
ENST00000260648	44338351	44338536	In-frame
ENST00000409272	44338351	44338536	In-frame
ENST00000409936	44338351	44338536	In-frame
ENST00000410081	44338351	44338536	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
ENST00000409272	44359497	44359750	3UTR-3CDS
ENST00000409936	44359497	44360038	3UTR-3CDS
ENST00000410081	44359497	44359750	3UTR-3CDS
ENST00000260648	44321827	44321900	Frame-shift
ENST00000409272	44321827	44321900	Frame-shift
ENST00000409936	44321827	44321900	Frame-shift
ENST00000410081	44321827	44321900	Frame-shift
ENST00000260648	44326712	44326928	Frame-shift
ENST00000409272	44326712	44326928	Frame-shift
ENST00000409936	44326712	44326928	Frame-shift
ENST00000410081	44326712	44326928	Frame-shift
ENST00000260648	44344520	44344586	Frame-shift
ENST00000409272	44344520	44344586	Frame-shift
ENST00000409936	44344520	44344586	Frame-shift
ENST00000410081	44344520	44344586	Frame-shift
ENST00000260648	44323262	44323411	In-frame
ENST00000409272	44323262	44323411	In-frame
ENST00000409936	44323262	44323411	In-frame
ENST00000410081	44323262	44323411	In-frame
ENST00000260648	44332459	44332656	In-frame
ENST00000409272	44332459	44332656	In-frame
ENST00000409936	44332459	44332656	In-frame
ENST00000410081	44332459	44332656	In-frame
ENST00000260648	44338351	44338536	In-frame
ENST00000409272	44338351	44338536	In-frame
ENST00000409936	44338351	44338536	In-frame
ENST00000410081	44338351	44338536	In-frame
ENST00000260648	44346268	44346390	In-frame
ENST00000409272	44346268	44346390	In-frame
ENST00000409936	44346268	44346390	In-frame
ENST00000410081	44346268	44346390	In-frame

Top

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

p-ENSG00000138078_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
ENST00000260648	3689	727	44346268	44346390	1179	1300	73	113
ENST00000409272	3047	727	44346268	44346390	537	658	73	113
ENST00000409936	5229	727	44346268	44346390	658	779	73	113
ENST00000410081	3097	727	44346268	44346390	682	803	73	113
ENST00000260648	3689	727	44338351	44338536	1929	2113	323	384
ENST00000409272	3047	727	44338351	44338536	1287	1471	323	384
ENST00000409936	5229	727	44338351	44338536	1408	1592	323	384
ENST00000410081	3097	727	44338351	44338536	1432	1616	323	384
ENST00000260648	3689	727	44332459	44332656	2115	2311	385	450
ENST00000409272	3047	727	44332459	44332656	1473	1669	385	450
ENST00000409936	5229	727	44332459	44332656	1594	1790	385	450
ENST00000410081	3097	727	44332459	44332656	1618	1814	385	450
ENST00000260648	3689	727	44323262	44323411	2706	2854	582	631
ENST00000409272	3047	727	44323262	44323411	2064	2212	582	631
ENST00000409936	5229	727	44323262	44323411	2185	2333	582	631
ENST00000410081	3097	727	44323262	44323411	2209	2357	582	631

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
ENST00000260648	3689	727	44338351	44338536	1929	2113	323	384
ENST00000409272	3047	727	44338351	44338536	1287	1471	323	384
ENST00000409936	5229	727	44338351	44338536	1408	1592	323	384
ENST00000410081	3097	727	44338351	44338536	1432	1616	323	384
ENST00000260648	3689	727	44332459	44332656	2115	2311	385	450
ENST00000409272	3047	727	44332459	44332656	1473	1669	385	450
ENST00000409936	5229	727	44332459	44332656	1594	1790	385	450
ENST00000410081	3097	727	44332459	44332656	1618	1814	385	450

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
ENST00000260648	3689	727	44346268	44346390	1179	1300	73	113
ENST00000409272	3047	727	44346268	44346390	537	658	73	113
ENST00000409936	5229	727	44346268	44346390	658	779	73	113
ENST00000410081	3097	727	44346268	44346390	682	803	73	113
ENST00000260648	3689	727	44338351	44338536	1929	2113	323	384
ENST00000409272	3047	727	44338351	44338536	1287	1471	323	384
ENST00000409936	5229	727	44338351	44338536	1408	1592	323	384
ENST00000410081	3097	727	44338351	44338536	1432	1616	323	384
ENST00000260648	3689	727	44332459	44332656	2115	2311	385	450
ENST00000409272	3047	727	44332459	44332656	1473	1669	385	450
ENST00000409936	5229	727	44332459	44332656	1594	1790	385	450
ENST00000410081	3097	727	44332459	44332656	1618	1814	385	450
ENST00000260648	3689	727	44323262	44323411	2706	2854	582	631
ENST00000409272	3047	727	44323262	44323411	2064	2212	582	631
ENST00000409936	5229	727	44323262	44323411	2185	2333	582	631
ENST00000410081	3097	727	44323262	44323411	2209	2357	582	631

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
Q4J6C6	73	113	1	89	Alternative sequence	ID=VSP_030401;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9455477;Dbxref=PMID:9455477
Q4J6C6	73	113	1	89	Alternative sequence	ID=VSP_030401;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9455477;Dbxref=PMID:9455477
Q4J6C6	73	113	1	89	Alternative sequence	ID=VSP_030401;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9455477;Dbxref=PMID:9455477
Q4J6C6	73	113	1	89	Alternative sequence	ID=VSP_030401;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9455477;Dbxref=PMID:9455477
Q4J6C6	73	113	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	73	113	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	73	113	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	73	113	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	73	113	90	90	Sequence conflict	Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	73	113	90	90	Sequence conflict	Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	73	113	90	90	Sequence conflict	Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	73	113	90	90	Sequence conflict	Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	582	631	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	582	631	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	582	631	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	582	631	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	582	631	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	582	631	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	582	631	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	582	631	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330

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
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q4J6C6	73	113	1	89	Alternative sequence	ID=VSP_030401;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9455477;Dbxref=PMID:9455477
Q4J6C6	73	113	1	89	Alternative sequence	ID=VSP_030401;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9455477;Dbxref=PMID:9455477
Q4J6C6	73	113	1	89	Alternative sequence	ID=VSP_030401;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9455477;Dbxref=PMID:9455477
Q4J6C6	73	113	1	89	Alternative sequence	ID=VSP_030401;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9455477;Dbxref=PMID:9455477
Q4J6C6	73	113	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	73	113	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	73	113	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	73	113	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	73	113	90	90	Sequence conflict	Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	73	113	90	90	Sequence conflict	Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	73	113	90	90	Sequence conflict	Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	73	113	90	90	Sequence conflict	Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	323	384	Alternative sequence	ID=VSP_030402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	323	384	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	385	450	Alternative sequence	ID=VSP_030403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15913950;Dbxref=PMID:15913950
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	385	450	408	408	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q4J6C6	582	631	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	582	631	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	582	631	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	582	631	1	727	Chain	ID=PRO_0000314860;Note=Prolyl endopeptidase-like
Q4J6C6	582	631	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	582	631	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	582	631	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330
Q4J6C6	582	631	270	727	Natural variant	ID=VAR_078656;Note=In CMS22. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24610330;Dbxref=PMID:24610330

Top

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

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

Top

SNVs in the skipped exons for PREPL

- 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

Top

AD stage-associated exon skippint events for PREPL

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

Top

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

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

Top

Correlation with RNA binding proteins (RBPs) for PREPL

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
TC	RBFOX2	exon_skip_160036	-4.478534e-01	4.072880e-09
TC	ELAVL4	exon_skip_160036	-5.006188e-01	2.443993e-11
TC	KHDRBS2	exon_skip_160036	-5.071328e-01	1.220692e-11
TC	KHDRBS3	exon_skip_160036	-4.002812e-01	2.055280e-07
TC	RALYL	exon_skip_160036	-5.080702e-01	1.103297e-11
TC	NOVA1	exon_skip_160036	-4.517724e-01	2.867915e-09

Top

RelatedDrugs for PREPL

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

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

RelatedDiseases for PREPL

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

Home

Download

Statistics

Landscape

Help

Contact

Gene summary for PREPL

Gene structures and expression levels for PREPL

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

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

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

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

SNVs in the skipped exons for PREPL

AD stage-associated exon skippint events for PREPL

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

Correlation with RNA binding proteins (RBPs) for PREPL

RelatedDrugs for PREPL

RelatedDiseases for PREPL