ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for XPNPEP3

Gene summary

Gene information	Gene symbol	XPNPEP3
	Gene ID	63929
	Gene name	X-prolyl aminopeptidase 3
	Synonyms	APP3\|ICP55\|NPHPL1
	Cytomap	22q13.2
	Type of gene	protein-coding
	Description	xaa-Pro aminopeptidase 3Intermediate Cleaving Peptidase 55X-Pro aminopeptidase 3X-prolyl aminopeptidase 3, mitochondrialprobable Xaa-Pro aminopeptidase 3
	Modification date	20180527
	UniProtAcc	Q9NQH7
	Context	PubMed: XPNPEP3 [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
XPNPEP3	GO:0006508	proteolysis	28476889

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Exon skipping events across known transcript of Ensembl for XPNPEP3 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 XPNPEP3

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 XPNPEP3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENSG00000196236.8	ENST00000482652.1
exon_skip_365836	22	41253134:41253249:41265002:41265119:41277773:41277928	41265002:41265119	ENSG00000196236.8	ENST00000414396.1,ENST00000357137.4,ENST00000541156.1
exon_skip_365845	22	41265022:41265119:41266051:41266143:41277773:41277928	41266051:41266143	ENSG00000196236.8	ENST00000428799.1
exon_skip_365847	22	41265002:41265119:41277773:41278181:41282316:41282519	41277773:41278181	ENSG00000196236.8	ENST00000414396.1,ENST00000357137.4,ENST00000544094.1,ENST00000541156.1
exon_skip_365848	22	41266051:41266143:41277773:41278181:41282316:41282519	41277773:41278181	ENSG00000196236.8	ENST00000428799.1
exon_skip_365849	22	41277773:41278181:41282316:41282519:41303590:41303653	41282316:41282519	ENSG00000196236.8	ENST00000357137.4,ENST00000544094.1,ENST00000428799.1
exon_skip_365852	22	41282387:41282519:41303129:41303194:41303590:41303653	41303129:41303194	ENSG00000196236.8	ENST00000541156.1
exon_skip_365853	22	41282316:41282519:41303590:41303653:41305125:41305149	41303590:41303653	ENSG00000196236.8	ENST00000357137.4,ENST00000544094.1,ENST00000428799.1
exon_skip_365856	22	41303590:41303653:41305125:41305239:41310242:41310328	41305125:41305239	ENSG00000196236.8	ENST00000357137.4,ENST00000544094.1,ENST00000428799.1
exon_skip_365857	22	41305125:41305239:41310242:41310328:41318336:41318517	41310242:41310328	ENSG00000196236.8	ENST00000357137.4,ENST00000544094.1,ENST00000428799.1
exon_skip_365859	22	41310242:41310328:41318336:41318517:41320365:41320486	41318336:41318517	ENSG00000196236.8	ENST00000357137.4,ENST00000544094.1,ENST00000428799.1
exon_skip_365860	22	41318336:41318517:41320365:41320486:41322272:41322467	41320365:41320486	ENSG00000196236.8	ENST00000357137.4,ENST00000544094.1,ENST00000428799.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for XPNPEP3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENSG00000196236.8	ENST00000482652.1
exon_skip_365836	22	41253134:41253249:41265002:41265119:41277773:41277928	41265002:41265119	ENSG00000196236.8	ENST00000541156.1,ENST00000414396.1,ENST00000357137.4
exon_skip_365845	22	41265022:41265119:41266051:41266143:41277773:41277928	41266051:41266143	ENSG00000196236.8	ENST00000428799.1
exon_skip_365847	22	41265002:41265119:41277773:41278181:41282316:41282519	41277773:41278181	ENSG00000196236.8	ENST00000541156.1,ENST00000414396.1,ENST00000357137.4,ENST00000544094.1
exon_skip_365848	22	41266051:41266143:41277773:41278181:41282316:41282519	41277773:41278181	ENSG00000196236.8	ENST00000428799.1
exon_skip_365849	22	41277773:41278181:41282316:41282519:41303590:41303653	41282316:41282519	ENSG00000196236.8	ENST00000357137.4,ENST00000428799.1,ENST00000544094.1
exon_skip_365852	22	41282387:41282519:41303129:41303194:41303590:41303653	41303129:41303194	ENSG00000196236.8	ENST00000541156.1
exon_skip_365853	22	41282316:41282519:41303590:41303653:41305125:41305149	41303590:41303653	ENSG00000196236.8	ENST00000357137.4,ENST00000428799.1,ENST00000544094.1
exon_skip_365856	22	41303590:41303653:41305125:41305239:41310242:41310328	41305125:41305239	ENSG00000196236.8	ENST00000357137.4,ENST00000428799.1,ENST00000544094.1
exon_skip_365857	22	41305125:41305239:41310242:41310328:41318336:41318517	41310242:41310328	ENSG00000196236.8	ENST00000357137.4,ENST00000428799.1,ENST00000544094.1
exon_skip_365859	22	41310242:41310328:41318336:41318517:41320365:41320486	41318336:41318517	ENSG00000196236.8	ENST00000357137.4,ENST00000428799.1,ENST00000544094.1
exon_skip_365860	22	41318336:41318517:41320365:41320486:41322272:41322467	41320365:41320486	ENSG00000196236.8	ENST00000357137.4,ENST00000428799.1,ENST00000544094.1

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 XPNPEP3

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
ENST00000357137	41282316	41282519	Frame-shift
ENST00000357137	41310242	41310328	Frame-shift
ENST00000357137	41318336	41318517	Frame-shift
ENST00000357137	41320365	41320486	Frame-shift
ENST00000357137	41265002	41265119	In-frame
ENST00000357137	41277773	41278181	In-frame
ENST00000357137	41303590	41303653	In-frame
ENST00000357137	41305125	41305239	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
ENST00000357137	41282316	41282519	Frame-shift
ENST00000357137	41310242	41310328	Frame-shift
ENST00000357137	41318336	41318517	Frame-shift
ENST00000357137	41320365	41320486	Frame-shift
ENST00000357137	41265002	41265119	In-frame
ENST00000357137	41277773	41278181	In-frame
ENST00000357137	41303590	41303653	In-frame
ENST00000357137	41305125	41305239	In-frame

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Infer the effects of exon skipping event on protein functional features for XPNPEP3

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
ENST00000357137	8005	507	41265002	41265119	149	265	21	60
ENST00000357137	8005	507	41277773	41278181	266	673	60	196
ENST00000357137	8005	507	41303590	41303653	877	939	264	285
ENST00000357137	8005	507	41305125	41305239	940	1053	285	323

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
ENST00000357137	8005	507	41265002	41265119	149	265	21	60
ENST00000357137	8005	507	41277773	41278181	266	673	60	196
ENST00000357137	8005	507	41303590	41303653	877	939	264	285
ENST00000357137	8005	507	41305125	41305239	940	1053	285	323

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
Q9NQH7	21	60	1	79	Alternative sequence	ID=VSP_021296;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NQH7	21	60	1	23	Alternative sequence	ID=VSP_040142;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NQH7	21	60	32	507	Chain	ID=PRO_0000255654;Note=Xaa-Pro aminopeptidase 3
Q9NQH7	21	60	29	30	Mutagenesis	Note=Prevents cleavage of N-terminal transit peptide%3B when associated with A-18%3B A-39-40-A and A-44. RR->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	21	60	39	40	Mutagenesis	Note=Prevents cleavage of N-terminal transit peptide%3B when associated with A-18%3B A-29-30-A and A-44. RR->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	21	60	44	44	Mutagenesis	Note=Prevents cleavage of N-terminal transit peptide%3B when associated with A-18%3B A-29-30-A and A-39-40-A. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	21	60	54	79	Region	Note=Interaction with TNFRSF1B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	21	60	1	31	Transit peptide	Note=Mitochondrion;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255,ECO:0000305\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	60	196	1	79	Alternative sequence	ID=VSP_021296;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NQH7	60	196	62	64	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	94	100	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	133	138	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	147	153	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	180	184	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	32	507	Chain	ID=PRO_0000255654;Note=Xaa-Pro aminopeptidase 3
Q9NQH7	60	196	69	85	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	119	125	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	158	164	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	170	177	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	185	191	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	192	196	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	54	79	Region	Note=Interaction with TNFRSF1B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	264	285	265	288	Alternative sequence	ID=VSP_040143;Note=In isoform 5. AFIETMFTSKAPVEEAFLYAKFEF->KSVLLARHGGSRLYSHHFGRPRLS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NQH7	264	285	265	278	Alternative sequence	ID=VSP_021297;Note=In isoform 3. AFIETMFTSKAPVE->RQGFSVLSRLVSNS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NQH7	264	285	279	507	Alternative sequence	ID=VSP_021298;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NQH7	264	285	275	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	264	285	32	507	Chain	ID=PRO_0000255654;Note=Xaa-Pro aminopeptidase 3
Q9NQH7	264	285	249	271	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	264	285	279	292	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	265	288	Alternative sequence	ID=VSP_040143;Note=In isoform 5. AFIETMFTSKAPVEEAFLYAKFEF->KSVLLARHGGSRLYSHHFGRPRLS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NQH7	285	323	279	507	Alternative sequence	ID=VSP_021298;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NQH7	285	323	289	507	Alternative sequence	ID=VSP_040144;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NQH7	285	323	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	303	306	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	320	322	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	300	300	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5X49,ECO:0000269\|PubMed:28476889;Dbxref=PMID:28476889
Q9NQH7	285	323	32	507	Chain	ID=PRO_0000255654;Note=Xaa-Pro aminopeptidase 3
Q9NQH7	285	323	279	292	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	307	311	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	314	314	Mutagenesis	Note=Impairs catalytic activity. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706

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
Q9NQH7	21	60	1	79	Alternative sequence	ID=VSP_021296;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NQH7	21	60	1	23	Alternative sequence	ID=VSP_040142;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NQH7	21	60	32	507	Chain	ID=PRO_0000255654;Note=Xaa-Pro aminopeptidase 3
Q9NQH7	21	60	29	30	Mutagenesis	Note=Prevents cleavage of N-terminal transit peptide%3B when associated with A-18%3B A-39-40-A and A-44. RR->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	21	60	39	40	Mutagenesis	Note=Prevents cleavage of N-terminal transit peptide%3B when associated with A-18%3B A-29-30-A and A-44. RR->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	21	60	44	44	Mutagenesis	Note=Prevents cleavage of N-terminal transit peptide%3B when associated with A-18%3B A-29-30-A and A-39-40-A. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	21	60	54	79	Region	Note=Interaction with TNFRSF1B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	21	60	1	31	Transit peptide	Note=Mitochondrion;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255,ECO:0000305\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	60	196	1	79	Alternative sequence	ID=VSP_021296;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NQH7	60	196	62	64	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	94	100	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	133	138	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	147	153	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	180	184	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	32	507	Chain	ID=PRO_0000255654;Note=Xaa-Pro aminopeptidase 3
Q9NQH7	60	196	69	85	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	119	125	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	158	164	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	170	177	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	185	191	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	192	196	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	60	196	54	79	Region	Note=Interaction with TNFRSF1B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706
Q9NQH7	264	285	265	288	Alternative sequence	ID=VSP_040143;Note=In isoform 5. AFIETMFTSKAPVEEAFLYAKFEF->KSVLLARHGGSRLYSHHFGRPRLS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NQH7	264	285	265	278	Alternative sequence	ID=VSP_021297;Note=In isoform 3. AFIETMFTSKAPVE->RQGFSVLSRLVSNS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NQH7	264	285	279	507	Alternative sequence	ID=VSP_021298;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NQH7	264	285	275	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	264	285	32	507	Chain	ID=PRO_0000255654;Note=Xaa-Pro aminopeptidase 3
Q9NQH7	264	285	249	271	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	264	285	279	292	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	265	288	Alternative sequence	ID=VSP_040143;Note=In isoform 5. AFIETMFTSKAPVEEAFLYAKFEF->KSVLLARHGGSRLYSHHFGRPRLS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NQH7	285	323	279	507	Alternative sequence	ID=VSP_021298;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9NQH7	285	323	289	507	Alternative sequence	ID=VSP_040144;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NQH7	285	323	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	303	306	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	320	322	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	300	300	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5X49,ECO:0000269\|PubMed:28476889;Dbxref=PMID:28476889
Q9NQH7	285	323	32	507	Chain	ID=PRO_0000255654;Note=Xaa-Pro aminopeptidase 3
Q9NQH7	285	323	279	292	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	307	311	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5X49
Q9NQH7	285	323	314	314	Mutagenesis	Note=Impairs catalytic activity. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25609706;Dbxref=PMID:25609706

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SNVs in the skipped exons for XPNPEP3

- 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-DD-A1EG-01	exon_skip_365836	41265003	41265119	41265074	41265074	Frame_Shift_Del	T	-	p.L46fs
SARC	TCGA-PT-A8TR-01A-11D-A37C-09	exon_skip_365848 exon_skip_365847	41277774	41278181	41278171	41278171	Frame_Shift_Del	A	-	p.M195fs
LIHC	TCGA-DD-A3A0-01	exon_skip_365853	41303591	41303653	41303622	41303622	Frame_Shift_Del	C	-	p.A275fs
LIHC	TCGA-DD-A3A0-01	exon_skip_365860	41320366	41320486	41320438	41320438	Frame_Shift_Del	C	-	p.P437fs
LUAD	TCGA-55-8087-01	exon_skip_365849	41282317	41282519	41282374	41282375	Frame_Shift_Ins	-	T	p.*216fs
BRCA	TCGA-BH-A0H7-01	exon_skip_365836	41265003	41265119	41265020	41265020	Nonsense_Mutation	C	T	p.Q28*
SKCM	TCGA-EE-A2GO-06	exon_skip_365848 exon_skip_365847	41277774	41278181	41277848	41277848	Nonsense_Mutation	G	T	p.E86*
UCEC	TCGA-B5-A11Y-01	exon_skip_365848 exon_skip_365847	41277774	41278181	41278091	41278091	Nonsense_Mutation	C	T	p.R167*
LUAD	TCGA-75-5126-01	exon_skip_365849	41282317	41282519	41282319	41282319	Nonsense_Mutation	G	T	p.E198*
UCEC	TCGA-AP-A0LM-01	exon_skip_365849	41282317	41282519	41282487	41282487	Nonsense_Mutation	C	T	p.R254*
LUSC	TCGA-66-2773-01	exon_skip_365836	41265003	41265119	41265120	41265120	Splice_Site	G	T	p.G61_splice

- 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
59M_OVARY	41277774	41278181	41277799	41277799	Frame_Shift_Del	G	-	p.Q69fs
COLO783_SKIN	41265003	41265119	41265088	41265089	Missense_Mutation	CC	TT	p.P51S
COLO783_SKIN	41265003	41265119	41265089	41265089	Missense_Mutation	C	T	p.P51S
DMS53_LUNG	41277774	41278181	41277815	41277815	Missense_Mutation	C	G	p.R75G
GSU_STOMACH	41277774	41278181	41277816	41277816	Missense_Mutation	G	A	p.R75H
LN18_CENTRAL_NERVOUS_SYSTEM	41277774	41278181	41277839	41277839	Missense_Mutation	A	G	p.I83V
HEC108_ENDOMETRIUM	41277774	41278181	41277923	41277923	Missense_Mutation	A	G	p.I111V
MEWO_SKIN	41277774	41278181	41277927	41277927	Missense_Mutation	C	T	p.P112L
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	41277774	41278181	41278033	41278033	Missense_Mutation	C	A	p.H147Q
KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41277774	41278181	41278037	41278037	Missense_Mutation	G	A	p.A149T
HEC59_ENDOMETRIUM	41277774	41278181	41278043	41278043	Missense_Mutation	C	T	p.L151F
NCIH1573_LUNG	41277774	41278181	41278083	41278083	Missense_Mutation	A	G	p.D164G
NCIH810_LUNG	41277774	41278181	41278084	41278084	Missense_Mutation	T	G	p.D164E
HEC6_ENDOMETRIUM	41277774	41278181	41278089	41278089	Missense_Mutation	C	T	p.P166L
MDAMB361_BREAST	41282317	41282519	41282319	41282319	Missense_Mutation	G	C	p.E198Q
SNU1040_LARGE_INTESTINE	41282317	41282519	41282407	41282407	Missense_Mutation	C	T	p.A227V
HEC6_ENDOMETRIUM	41282317	41282519	41282427	41282427	Missense_Mutation	C	T	p.R234W
UOK101_KIDNEY	41318337	41318517	41318366	41318366	Missense_Mutation	A	C	p.E362A
HS739T_FIBROBLAST	41320366	41320486	41320439	41320439	Missense_Mutation	C	G	p.P437R
SUPB8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41320366	41320486	41320445	41320445	Missense_Mutation	C	T	p.S439F
OC316_OVARY	41320366	41320486	41320477	41320477	Missense_Mutation	A	G	p.I450V
OC314_OVARY	41320366	41320486	41320477	41320477	Missense_Mutation	A	G	p.I450V
MSTO211H_PLEURA	41277774	41278181	41278091	41278091	Nonsense_Mutation	C	T	p.R167*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for XPNPEP3

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
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	CESC	rs103197	chr22:41256802	A/G	1.52e-28
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	CESC	rs103197	chr22:41256802	A/G	1.52e-28
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	BLCA	rs103197	chr22:41256802	A/G	2.59e-49
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	BLCA	rs103197	chr22:41256802	A/G	2.59e-49
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	BLCA	rs103197	chr22:41256802	A/G	4.97e-05
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	ESCA	rs103197	chr22:41256802	A/G	1.58e-27
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	ESCA	rs103197	chr22:41256802	A/G	1.58e-27
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	KICH	rs103197	chr22:41256802	A/G	1.53e-09
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	KICH	rs103197	chr22:41256802	A/G	1.53e-09
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	LAML	rs103197	chr22:41256802	A/G	2.14e-09
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	LAML	rs103197	chr22:41256802	A/G	2.14e-09
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	MESO	rs103197	chr22:41256802	A/G	3.14e-13
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	MESO	rs103197	chr22:41256802	A/G	3.14e-13
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	LIHC	rs103197	chr22:41256802	A/G	1.73e-54
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	LIHC	rs103197	chr22:41256802	A/G	1.21e-52
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	PAAD	rs103197	chr22:41256802	A/G	1.25e-26
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	PAAD	rs103197	chr22:41256802	A/G	1.25e-26
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	PRAD	rs103197	chr22:41256802	A/G	8.42e-63
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	PRAD	rs103197	chr22:41256802	A/G	8.55e-63
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	PRAD	rs103197	chr22:41256802	A/G	8.81e-07
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	TGCT	rs103197	chr22:41256802	A/G	9.33e-26
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	TGCT	rs103197	chr22:41256802	A/G	9.33e-26
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	TGCT	rs103197	chr22:41256802	A/G	5.88e-09
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	UCEC	rs103197	chr22:41256802	A/G	1.27e-19
exon_skip_365831	22	41253134:41253249:41256681:41256797:41257621:41257644	41256681:41256797	ENST00000482652.1	UCEC	rs103197	chr22:41256802	A/G	1.27e-19

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for XPNPEP3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for XPNPEP3

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RelatedDrugs for XPNPEP3

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 XPNPEP3

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
XPNPEP3	C3150419	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1	1	CTD_human;UNIPROT

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

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