ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PARL

Gene summary

Gene information	Gene symbol	PARL
	Gene ID	55486
	Gene name	presenilin associated rhomboid like
	Synonyms	PRO2207\|PSARL\|PSARL1\|PSENIP2\|RHBDS1
	Cytomap	3q27.1
	Type of gene	protein-coding
	Description	presenilins-associated rhomboid-like protein, mitochondrialmitochondrial intramembrane-cleaving protease PARLrhomboid 7 homolog 1
	Modification date	20180522
	UniProtAcc	Q9H300
	Context	PubMed: PARL [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

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Exon skipping events across known transcript of Ensembl for PARL 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 PARL

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 PARL

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_390407	3	183547296:183547497:183551279:183551377:183551511:183551613	183551279:183551377	ENSG00000175193.8	ENST00000421484.1,ENST00000311101.5,ENST00000417784.1,ENST00000317096.4
exon_skip_390408	3	183547296:183547497:183551279:183551377:183558357:183558406	183551279:183551377	ENSG00000175193.8	ENST00000418450.1,ENST00000435888.1
exon_skip_390412	3	183551279:183551377:183551511:183551613:183558357:183558406	183551511:183551613	ENSG00000175193.8	ENST00000421484.1,ENST00000311101.5,ENST00000417784.1,ENST00000317096.4
exon_skip_390416	3	183558357:183558428:183560085:183560172:183562018:183562062	183560085:183560172	ENSG00000175193.8	ENST00000417784.1
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENSG00000175193.8	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1
exon_skip_390424	3	183558357:183558428:183562018:183562114:183580540:183580589	183562018:183562114	ENSG00000175193.8	ENST00000449306.1,ENST00000311101.5,ENST00000435888.1
exon_skip_390427	3	183560085:183560235:183562018:183562114:183580540:183580589	183562018:183562114	ENSG00000175193.8	ENST00000317096.4
exon_skip_390430	3	183562018:183562114:183580484:183580589:183584412:183584553	183580484:183580589	ENSG00000175193.8	ENST00000421484.1
exon_skip_390431	3	183562018:183562114:183580540:183580589:183584412:183584553	183580540:183580589	ENSG00000175193.8	ENST00000311101.5,ENST00000435888.1,ENST00000317096.4
exon_skip_390434	3	183580540:183580589:183584412:183584553:183585652:183585848	183584412:183584553	ENSG00000175193.8	ENST00000421484.1,ENST00000311101.5,ENST00000435888.1,ENST00000469056.1,ENST00000317096.4
exon_skip_390435	3	183584412:183584553:183585652:183585848:183602509:183602515	183585652:183585848	ENSG00000175193.8	ENST00000421484.1,ENST00000311101.5,ENST00000435888.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PARL

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_390407	3	183547296:183547497:183551279:183551377:183551511:183551613	183551279:183551377	ENSG00000175193.8	ENST00000317096.4,ENST00000417784.1,ENST00000311101.5,ENST00000421484.1
exon_skip_390408	3	183547296:183547497:183551279:183551377:183558357:183558406	183551279:183551377	ENSG00000175193.8	ENST00000418450.1,ENST00000435888.1
exon_skip_390412	3	183551279:183551377:183551511:183551613:183558357:183558406	183551511:183551613	ENSG00000175193.8	ENST00000317096.4,ENST00000417784.1,ENST00000311101.5,ENST00000421484.1
exon_skip_390416	3	183558357:183558428:183560085:183560172:183562018:183562062	183560085:183560172	ENSG00000175193.8	ENST00000417784.1
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENSG00000175193.8	ENST00000317096.4,ENST00000421484.1,ENST00000488202.1
exon_skip_390424	3	183558357:183558428:183562018:183562114:183580540:183580589	183562018:183562114	ENSG00000175193.8	ENST00000311101.5,ENST00000435888.1,ENST00000449306.1
exon_skip_390427	3	183560085:183560235:183562018:183562114:183580540:183580589	183562018:183562114	ENSG00000175193.8	ENST00000317096.4
exon_skip_390430	3	183562018:183562114:183580484:183580589:183584412:183584553	183580484:183580589	ENSG00000175193.8	ENST00000421484.1
exon_skip_390431	3	183562018:183562114:183580540:183580589:183584412:183584553	183580540:183580589	ENSG00000175193.8	ENST00000317096.4,ENST00000311101.5,ENST00000435888.1
exon_skip_390434	3	183580540:183580589:183584412:183584553:183585652:183585848	183584412:183584553	ENSG00000175193.8	ENST00000317096.4,ENST00000311101.5,ENST00000435888.1,ENST00000421484.1,ENST00000469056.1
exon_skip_390435	3	183584412:183584553:183585652:183585848:183602509:183602515	183585652:183585848	ENSG00000175193.8	ENST00000311101.5,ENST00000435888.1,ENST00000421484.1

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 PARL

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
ENST00000317096	183551279	183551377	Frame-shift
ENST00000317096	183580540	183580589	Frame-shift
ENST00000317096	183551511	183551613	In-frame
ENST00000317096	183560085	183560235	In-frame
ENST00000317096	183562018	183562114	In-frame
ENST00000317096	183584412	183584553	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
ENST00000317096	183551279	183551377	Frame-shift
ENST00000317096	183580540	183580589	Frame-shift
ENST00000317096	183551511	183551613	In-frame
ENST00000317096	183560085	183560235	In-frame
ENST00000317096	183562018	183562114	In-frame
ENST00000317096	183584412	183584553	In-frame

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

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
ENST00000317096	1431	379	183584412	183584553	383	523	107	154
ENST00000317096	1431	379	183562018	183562114	573	668	170	202
ENST00000317096	1431	379	183560085	183560235	669	818	202	252
ENST00000317096	1431	379	183551511	183551613	890	991	276	310

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
ENST00000317096	1431	379	183584412	183584553	383	523	107	154
ENST00000317096	1431	379	183562018	183562114	573	668	170	202
ENST00000317096	1431	379	183560085	183560235	669	818	202	252
ENST00000317096	1431	379	183551511	183551613	890	991	276	310

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
Q9H300	107	154	53	379	Chain	ID=PRO_0000027386;Note=Presenilins-associated rhomboid-like protein%2C mitochondrial
Q9H300	107	154	137	137	Natural variant	ID=VAR_029801;Note=A->G;Dbxref=dbSNP:rs4912470
Q9H300	107	154	122	167	Topological domain	Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	107	154	102	121	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	170	202	53	379	Chain	ID=PRO_0000027386;Note=Presenilins-associated rhomboid-like protein%2C mitochondrial
Q9H300	170	202	188	207	Topological domain	Note=Mitochondrial matrix;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	170	202	168	187	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	202	252	203	253	Alternative sequence	ID=VSP_013310;Note=In isoform 2. KVLCSPMLLSTFSHFSLFHMAANMYVLWSFSSSIVNILGQEQFMAVYLSAG->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9H300	202	252	53	379	Chain	ID=PRO_0000027386;Note=Presenilins-associated rhomboid-like protein%2C mitochondrial
Q9H300	202	252	188	207	Topological domain	Note=Mitochondrial matrix;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	202	252	231	244	Topological domain	Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	202	252	208	230	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	202	252	245	262	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	276	310	277	277	Active site	Note=Nucleophile;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H300	276	310	53	379	Chain	ID=PRO_0000027386;Note=Presenilins-associated rhomboid-like protein%2C mitochondrial
Q9H300	276	310	290	295	Topological domain	Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	276	310	273	289	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	276	310	296	318	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q9H300	107	154	53	379	Chain	ID=PRO_0000027386;Note=Presenilins-associated rhomboid-like protein%2C mitochondrial
Q9H300	107	154	137	137	Natural variant	ID=VAR_029801;Note=A->G;Dbxref=dbSNP:rs4912470
Q9H300	107	154	122	167	Topological domain	Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	107	154	102	121	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	170	202	53	379	Chain	ID=PRO_0000027386;Note=Presenilins-associated rhomboid-like protein%2C mitochondrial
Q9H300	170	202	188	207	Topological domain	Note=Mitochondrial matrix;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	170	202	168	187	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	202	252	203	253	Alternative sequence	ID=VSP_013310;Note=In isoform 2. KVLCSPMLLSTFSHFSLFHMAANMYVLWSFSSSIVNILGQEQFMAVYLSAG->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9H300	202	252	53	379	Chain	ID=PRO_0000027386;Note=Presenilins-associated rhomboid-like protein%2C mitochondrial
Q9H300	202	252	188	207	Topological domain	Note=Mitochondrial matrix;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	202	252	231	244	Topological domain	Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	202	252	208	230	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	202	252	245	262	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	276	310	277	277	Active site	Note=Nucleophile;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H300	276	310	53	379	Chain	ID=PRO_0000027386;Note=Presenilins-associated rhomboid-like protein%2C mitochondrial
Q9H300	276	310	290	295	Topological domain	Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	276	310	273	289	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H300	276	310	296	318	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for PARL

- 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.

PARL_ESCA_exon_skip_390412_psi_boxplot.png
boxplot

- 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_390408 exon_skip_390407	183551280	183551377	183551295	183551295	Frame_Shift_Del	C	-	p.G338fs
HNSC	TCGA-CV-7095-01	exon_skip_390408 exon_skip_390407	183551280	183551377	183551318	183551318	Frame_Shift_Del	A	-	p.F330fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_390408 exon_skip_390407	183551280	183551377	183551318	183551318	Frame_Shift_Del	A	-	p.F330fs
ESCA	TCGA-IG-A8O2-01	exon_skip_390412	183551512	183551613	183551540	183551547	Frame_Shift_Del	AGGAAAAT	-	p.I299fs
ESCA	TCGA-IG-A8O2-01	exon_skip_390412	183551512	183551613	183551540	183551547	Frame_Shift_Del	AGGAAAAT	-	p.IFL299fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_390434	183584413	183584553	183584434	183584434	Frame_Shift_Del	T	-	p.K147fs
LIHC	TCGA-DD-A3A0-01	exon_skip_390435	183585653	183585848	183585774	183585774	Frame_Shift_Del	G	-	p.P67fs
UCEC	TCGA-D1-A17H-01	exon_skip_390435	183585653	183585848	183585824	183585824	Frame_Shift_Del	T	-	p.K50fs
UCEC	TCGA-AX-A063-01	exon_skip_390434	183584413	183584553	183584518	183584518	Nonsense_Mutation	C	T	p.W119*
LUSC	TCGA-51-4081-01	exon_skip_390435	183585653	183585848	183585724	183585724	Nonsense_Mutation	C	A	p.E84*
UCEC	TCGA-AP-A059-01	exon_skip_390430	183580485	183580589	183580483	183580483	Splice_Site	A	C	e4+2

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-AP-A059-01
	Cancer type: UCEC
	ESID: exon_skip_390430
	Skipped exon start: 183580485
	Skipped exon end: 183580589
	Mutation start: 183580483
	Mutation end: 183580483
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: C
	AAchange: e4+2
exon_skip_109805_UCEC_TCGA-AP-A059-01.png
exon_skip_115311_UCEC_TCGA-AP-A059-01.png
exon_skip_24581_UCEC_TCGA-AP-A059-01.png
exon_skip_24582_UCEC_TCGA-AP-A059-01.png
exon_skip_24584_UCEC_TCGA-AP-A059-01.png
exon_skip_288059_UCEC_TCGA-AP-A059-01.png
exon_skip_304943_UCEC_TCGA-AP-A059-01.png
exon_skip_390430_UCEC_TCGA-AP-A059-01.png
exon_skip_477308_UCEC_TCGA-AP-A059-01.png
exon_skip_479028_UCEC_TCGA-AP-A059-01.png
exon_skip_484819_UCEC_TCGA-AP-A059-01.png
exon_skip_497317_UCEC_TCGA-AP-A059-01.png
exon_skip_499703_UCEC_TCGA-AP-A059-01.png
exon_skip_512666_UCEC_TCGA-AP-A059-01.png
exon_skip_5195_UCEC_TCGA-AP-A059-01.png
exon_skip_57355_UCEC_TCGA-AP-A059-01.png
exon_skip_5754_UCEC_TCGA-AP-A059-01.png
exon_skip_71021_UCEC_TCGA-AP-A059-01.png
exon_skip_89692_UCEC_TCGA-AP-A059-01.png
	Sample: TCGA-IG-A8O2-01
	Cancer type: ESCA
	ESID: exon_skip_390412
	Skipped exon start: 183551512
	Skipped exon end: 183551613
	Mutation start: 183551540
	Mutation end: 183551547
	Mutation type: Frame_Shift_Del
	Reference seq: AGGAAAAT
	Mutation seq: -
	AAchange: p.IFL299fs
	Sample: TCGA-IG-A8O2-01
	Cancer type: ESCA
	ESID: exon_skip_390412
	Skipped exon start: 183551512
	Skipped exon end: 183551613
	Mutation start: 183551540
	Mutation end: 183551547
	Mutation type: Frame_Shift_Del
	Reference seq: AGGAAAAT
	Mutation seq: -
	AAchange: p.I299fs
exon_skip_325306_ESCA_TCGA-IG-A8O2-01.png
exon_skip_333088_ESCA_TCGA-IG-A8O2-01.png
exon_skip_333091_ESCA_TCGA-IG-A8O2-01.png
exon_skip_390412_ESCA_TCGA-IG-A8O2-01.png
exon_skip_470694_ESCA_TCGA-IG-A8O2-01.png
exon_skip_500192_ESCA_TCGA-IG-A8O2-01.png

- 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
SNU520_STOMACH	183585653	183585848	183585661	183585662	Frame_Shift_Ins	-	A	p.T105fs
D502MG_CENTRAL_NERVOUS_SYSTEM	183585653	183585848	183585673	183585674	Frame_Shift_Ins	-	T	p.P101fs
MZ7MEL_SKIN	183551280	183551377	183551315	183551315	Missense_Mutation	A	T	p.D331E
CW2_LARGE_INTESTINE	183551280	183551377	183551324	183551324	Missense_Mutation	T	A	p.K328N
SARC9371_BONE	183551512	183551613	183551532	183551532	Missense_Mutation	A	G	p.F304L
ECGI10_OESOPHAGUS	183551512	183551613	183551588	183551588	Missense_Mutation	G	T	p.A285E
TASK1_CENTRAL_NERVOUS_SYSTEM	183551512	183551613	183551599	183551599	Missense_Mutation	C	T	p.M281I
D341MED_CENTRAL_NERVOUS_SYSTEM	183560086	183560235	183560179	183560179	Missense_Mutation	T	C	p.M222V
KINGS1_CENTRAL_NERVOUS_SYSTEM	183560086	183560235	183560188	183560188	Missense_Mutation	A	C	p.L219V
CALU1_LUNG	183560086	183560235	183560226	183560226	Missense_Mutation	C	T	p.C206Y
HCC2998_LARGE_INTESTINE	183562019	183562114	183562033	183562033	Missense_Mutation	G	A	p.S198L
CAL12T_LUNG	183562019	183562114	183562069	183562069	Missense_Mutation	G	A	p.P186L
NCIH647_LUNG	183562019	183562114	183562069	183562069	Missense_Mutation	G	A	p.P186L
HT115_LARGE_INTESTINE	183580485	183580589	183580552	183580552	Missense_Mutation	C	T	p.R167Q
HT115_LARGE_INTESTINE	183580541	183580589	183580552	183580552	Missense_Mutation	C	T	p.R167Q
SCC9_UPPER_AERODIGESTIVE_TRACT	183580485	183580589	183580552	183580552	Missense_Mutation	C	T	p.R167Q
SCC9_UPPER_AERODIGESTIVE_TRACT	183580541	183580589	183580552	183580552	Missense_Mutation	C	T	p.R167Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	183580485	183580589	183580570	183580570	Missense_Mutation	T	C	p.N161S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	183580541	183580589	183580570	183580570	Missense_Mutation	T	C	p.N161S
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	183580485	183580589	183580570	183580570	Missense_Mutation	T	C	p.N161S
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	183580541	183580589	183580570	183580570	Missense_Mutation	T	C	p.N161S
DMS114_LUNG	183584413	183584553	183584477	183584477	Missense_Mutation	T	C	p.D133G
NCIH1781_LUNG	183584413	183584553	183584478	183584478	Missense_Mutation	C	G	p.D133H
KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	183584413	183584553	183584546	183584546	Missense_Mutation	C	G	p.G110A
LOVO_LARGE_INTESTINE	183585653	183585848	183585757	183585757	Missense_Mutation	C	T	p.A73T
SNGM_ENDOMETRIUM	183585653	183585848	183585786	183585786	Missense_Mutation	C	T	p.R63Q

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

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_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	GBM	rs13091	chr3:183560195	A/G	4.04e-07
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	CESC	rs13091	chr3:183560195	A/G	1.94e-07
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	COAD	rs13091	chr3:183560195	A/G	1.26e-06
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	BLCA	rs13091	chr3:183560195	A/G	1.32e-12
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	ESCA	rs13091	chr3:183560195	A/G	3.98e-06
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	HNSC	rs13091	chr3:183560195	A/G	5.74e-15
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	BRCA	rs13091	chr3:183560195	A/G	1.26e-25
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	KIRP	rs13091	chr3:183560195	A/G	6.48e-05
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	LGG	rs13091	chr3:183560195	A/G	1.07e-22
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	KIRC	rs13091	chr3:183560195	A/G	2.42e-17
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	LUAD	rs13091	chr3:183560195	A/G	1.28e-13
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	LIHC	rs13091	chr3:183560195	A/G	8.42e-14
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	OV	rs13091	chr3:183560195	A/G	2.92e-12
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	PCPG	rs13091	chr3:183560195	A/G	8.80e-05
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	PAAD	rs13091	chr3:183560195	A/G	1.43e-07
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	PRAD	rs13091	chr3:183560195	A/G	1.32e-16
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	SARC	rs13091	chr3:183560195	A/G	5.47e-07
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	TGCT	rs13091	chr3:183560195	A/G	4.29e-11
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	STAD	rs13091	chr3:183560195	A/G	2.57e-05
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	THCA	rs13091	chr3:183560195	A/G	3.60e-18
exon_skip_390418	3	183558357:183558428:183560085:183560235:183562018:183562062	183560085:183560235	ENST00000421484.1,ENST00000317096.4,ENST00000488202.1	UCEC	rs13091	chr3:183560195	A/G	1.02e-05

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

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

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RelatedDrugs for PARL

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 PARL

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PARL	C0036341	Schizophrenia	1	PSYGENET

	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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