ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PACRGL

Gene summary

Gene information	Gene symbol	PACRGL
	Gene ID	133015
	Gene name	parkin coregulated like
	Synonyms	C4orf28
	Cytomap	4p15.31
	Type of gene	protein-coding
	Description	PACRG-like proteinPARK2 co-regulated likePARK2 coregulated like
	Modification date	20180519
	UniProtAcc	Q8N7B6
	Context	PubMed: PACRGL [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 PACRGL 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 PACRGL

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 PACRGL

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_422735	4	20702103:20702201:20702293:20702410:20703380:20703477	20702293:20702410	ENSG00000163138.14	ENST00000514485.1
exon_skip_422738	4	20702103:20702201:20703380:20703507:20703763:20703819	20703380:20703507	ENSG00000163138.14	ENST00000510051.1
exon_skip_422740	4	20702103:20702201:20703763:20703844:20706088:20706147	20703763:20703844	ENSG00000163138.14	ENST00000511089.1
exon_skip_422746	4	20702081:20702240:20703763:20703844:20706088:20706147	20703763:20703844	ENSG00000163138.14	ENST00000295290.8
exon_skip_422750	4	20702081:20702329:20703763:20703844:20706088:20706147	20703763:20703844	ENSG00000163138.14	ENST00000504630.1
exon_skip_422754	4	20702293:20702410:20703132:20703290:20703380:20703477	20703132:20703290	ENSG00000163138.14	ENST00000505160.1
exon_skip_422755	4	20702293:20702410:20703141:20703290:20703380:20703477	20703141:20703290	ENSG00000163138.14	ENST00000510700.1
exon_skip_422756	4	20702082:20702410:20703348:20703507:20703763:20703819	20703348:20703507	ENSG00000163138.14	ENST00000509625.1
exon_skip_422758	4	20702293:20702410:20703380:20703507:20703763:20703819	20703380:20703507	ENSG00000163138.14	ENST00000514485.1
exon_skip_422761	4	20702293:20702410:20703763:20703844:20706088:20706147	20703763:20703844	ENSG00000163138.14	ENST00000506745.1
exon_skip_422762	4	20703380:20703507:20703763:20703844:20706088:20706147	20703763:20703844	ENSG00000163138.14	ENST00000510051.1,ENST00000514485.1,ENST00000511160.1
exon_skip_422763	4	20706088:20706156:20706282:20706437:20709425:20709472	20706282:20706437	ENSG00000163138.14	ENST00000503747.1,ENST00000510051.1,ENST00000509469.1,ENST00000471979.2,ENST00000514485.1,ENST00000506745.1,ENST00000507634.1,ENST00000506702.1,ENST00000360916.5,ENST00000503585.1,ENST00000504630.1,ENST00000514663.1,ENST00000467997.2,ENST00000513590.1,ENS
exon_skip_422764	4	20706282:20706437:20709425:20709493:20711305:20711337	20709425:20709493	ENSG00000163138.14	ENST00000510051.1,ENST00000509469.1,ENST00000471979.2,ENST00000514485.1,ENST00000507634.1,ENST00000506702.1,ENST00000360916.5,ENST00000503585.1,ENST00000514663.1,ENST00000467997.2,ENST00000513590.1,ENST00000295290.8
exon_skip_422765	4	20706282:20706437:20709425:20709493:20714410:20714454	20709425:20709493	ENSG00000163138.14	ENST00000503747.1,ENST00000508952.1
exon_skip_422768	4	20706282:20706437:20711305:20711396:20714410:20714454	20711305:20711396	ENSG00000163138.14	ENST00000506951.1
exon_skip_422770	4	20706282:20706437:20714410:20714545:20715054:20715084	20714410:20714545	ENSG00000163138.14	ENST00000511089.1,ENST00000513459.1,ENST00000502374.1,ENST00000513861.1
exon_skip_422774	4	20706282:20706437:20715054:20715162:20728907:20729020	20715054:20715162	ENSG00000163138.14	ENST00000444671.2,ENST00000538990.1
exon_skip_422779	4	20709425:20709493:20711305:20711396:20714410:20714454	20711305:20711396	ENSG00000163138.14	ENST00000510051.1,ENST00000509469.1,ENST00000471979.2,ENST00000507634.1,ENST00000506702.1,ENST00000360916.5,ENST00000503585.1,ENST00000467997.2,ENST00000513590.1,ENST00000295290.8
exon_skip_422781	4	20709425:20709493:20714410:20714545:20715054:20715084	20714410:20714545	ENSG00000163138.14	ENST00000503747.1,ENST00000508952.1
exon_skip_422785	4	20711305:20711396:20714410:20714545:20715054:20715084	20714410:20714545	ENSG00000163138.14	ENST00000510051.1,ENST00000506951.1,ENST00000471979.2,ENST00000507634.1,ENST00000506702.1,ENST00000360916.5,ENST00000503585.1,ENST00000467997.2,ENST00000513590.1,ENST00000295290.8
exon_skip_422788	4	20715054:20715162:20717729:20717871:20728907:20729020	20717729:20717871	ENSG00000163138.14	ENST00000502374.1
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENSG00000163138.14	ENST00000506951.1
exon_skip_422794	4	20715054:20715162:20726430:20726511:20728907:20729020	20726430:20726511	ENSG00000163138.14	ENST00000471979.2,ENST00000503585.1,ENST00000508952.1
exon_skip_422797	4	20715054:20715162:20728907:20729020:20754187:20754484	20728907:20729020	ENSG00000163138.14	ENST00000507634.1,ENST00000506702.1,ENST00000467997.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PACRGL

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_422735	4	20702103:20702201:20702293:20702410:20703380:20703477	20702293:20702410	ENSG00000163138.14	ENST00000514485.1
exon_skip_422738	4	20702103:20702201:20703380:20703507:20703763:20703819	20703380:20703507	ENSG00000163138.14	ENST00000510051.1
exon_skip_422740	4	20702103:20702201:20703763:20703844:20706088:20706147	20703763:20703844	ENSG00000163138.14	ENST00000511089.1
exon_skip_422746	4	20702081:20702240:20703763:20703844:20706088:20706147	20703763:20703844	ENSG00000163138.14	ENST00000295290.8
exon_skip_422747	4	20702080:20702240:20704273:20704363:20706088:20706147	20704273:20704363	ENSG00000163138.14	ENST00000514663.1
exon_skip_422748	4	20702081:20702329:20703380:20703507:20703763:20703819	20703380:20703507	ENSG00000163138.14	ENST00000508753.1
exon_skip_422750	4	20702081:20702329:20703763:20703844:20706088:20706147	20703763:20703844	ENSG00000163138.14	ENST00000504630.1
exon_skip_422751	4	20702098:20702370:20703380:20703507:20703763:20703819	20703380:20703507	ENSG00000163138.14	ENST00000511160.1
exon_skip_422754	4	20702293:20702410:20703132:20703290:20703380:20703477	20703132:20703290	ENSG00000163138.14	ENST00000505160.1
exon_skip_422755	4	20702293:20702410:20703141:20703290:20703380:20703477	20703141:20703290	ENSG00000163138.14	ENST00000510700.1
exon_skip_422756	4	20702082:20702410:20703348:20703507:20703763:20703819	20703348:20703507	ENSG00000163138.14	ENST00000509625.1
exon_skip_422758	4	20702293:20702410:20703380:20703507:20703763:20703819	20703380:20703507	ENSG00000163138.14	ENST00000514485.1
exon_skip_422761	4	20702293:20702410:20703763:20703844:20706088:20706147	20703763:20703844	ENSG00000163138.14	ENST00000506745.1
exon_skip_422762	4	20703380:20703507:20703763:20703844:20706088:20706147	20703763:20703844	ENSG00000163138.14	ENST00000510051.1,ENST00000514485.1,ENST00000511160.1
exon_skip_422763	4	20706088:20706156:20706282:20706437:20709425:20709472	20706282:20706437	ENSG00000163138.14	ENST00000471979.2,ENST00000510051.1,ENST00000503585.1,ENST00000360916.5,ENST00000295290.8,ENST00000514485.1,ENST00000506745.1,ENST00000514663.1,ENST00000509469.1,ENST00000508952.1,ENST00000504630.1,ENST00000513590.1,ENST00000506702.1,ENST00000507634.1,ENS
exon_skip_422764	4	20706282:20706437:20709425:20709493:20711305:20711337	20709425:20709493	ENSG00000163138.14	ENST00000471979.2,ENST00000510051.1,ENST00000503585.1,ENST00000360916.5,ENST00000295290.8,ENST00000514485.1,ENST00000514663.1,ENST00000509469.1,ENST00000513590.1,ENST00000506702.1,ENST00000507634.1,ENST00000467997.2
exon_skip_422765	4	20706282:20706437:20709425:20709493:20714410:20714454	20709425:20709493	ENSG00000163138.14	ENST00000508952.1,ENST00000503747.1
exon_skip_422768	4	20706282:20706437:20711305:20711396:20714410:20714454	20711305:20711396	ENSG00000163138.14	ENST00000506951.1
exon_skip_422770	4	20706282:20706437:20714410:20714545:20715054:20715084	20714410:20714545	ENSG00000163138.14	ENST00000513861.1,ENST00000502374.1,ENST00000513459.1,ENST00000511089.1
exon_skip_422774	4	20706282:20706437:20715054:20715162:20728907:20729020	20715054:20715162	ENSG00000163138.14	ENST00000444671.2,ENST00000538990.1
exon_skip_422779	4	20709425:20709493:20711305:20711396:20714410:20714454	20711305:20711396	ENSG00000163138.14	ENST00000471979.2,ENST00000510051.1,ENST00000503585.1,ENST00000360916.5,ENST00000295290.8,ENST00000509469.1,ENST00000513590.1,ENST00000506702.1,ENST00000507634.1,ENST00000467997.2
exon_skip_422781	4	20709425:20709493:20714410:20714545:20715054:20715084	20714410:20714545	ENSG00000163138.14	ENST00000508952.1,ENST00000503747.1
exon_skip_422785	4	20711305:20711396:20714410:20714545:20715054:20715084	20714410:20714545	ENSG00000163138.14	ENST00000471979.2,ENST00000510051.1,ENST00000503585.1,ENST00000360916.5,ENST00000295290.8,ENST00000513590.1,ENST00000506702.1,ENST00000506951.1,ENST00000507634.1,ENST00000467997.2
exon_skip_422788	4	20715054:20715162:20717729:20717871:20728907:20729020	20717729:20717871	ENSG00000163138.14	ENST00000502374.1
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENSG00000163138.14	ENST00000506951.1
exon_skip_422794	4	20715054:20715162:20726430:20726511:20728907:20729020	20726430:20726511	ENSG00000163138.14	ENST00000471979.2,ENST00000503585.1,ENST00000508952.1

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 PACRGL

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
ENST00000503585	20706282	20706437	Frame-shift
ENST00000503585	20709425	20709493	Frame-shift
ENST00000503585	20711305	20711396	Frame-shift
ENST00000503585	20714410	20714545	In-frame
ENST00000503585	20726430	20726511	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
ENST00000503585	20706282	20706437	Frame-shift
ENST00000503585	20709425	20709493	Frame-shift
ENST00000503585	20711305	20711396	Frame-shift
ENST00000503585	20714410	20714545	In-frame
ENST00000503585	20726430	20726511	In-frame

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

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
ENST00000503585	1599	248	20714410	20714545	758	892	122	167
ENST00000503585	1599	248	20726430	20726511	1001	1081	203	230

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
ENST00000503585	1599	248	20714410	20714545	758	892	122	167
ENST00000503585	1599	248	20726430	20726511	1001	1081	203	230

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
Q8N7B6	122	167	70	167	Alternative sequence	ID=VSP_043351;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N7B6	122	167	70	122	Alternative sequence	ID=VSP_045095;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N7B6	122	167	1	248	Chain	ID=PRO_0000278243;Note=PACRG-like protein
Q8N7B6	203	230	203	229	Alternative sequence	ID=VSP_023206;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q8N7B6	203	230	204	248	Alternative sequence	ID=VSP_045096;Note=In isoform 4. LSKRLMDKKFKEPITSALQKLEQHGGSGSLSIIKSKIPTYCSICC->DPVQLMRFPRPLLGLMICQKDPWNSGKLLLAVMVSYNTQKIKIKISKGEP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N7B6	203	230	1	248	Chain	ID=PRO_0000278243;Note=PACRG-like protein

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
Q8N7B6	122	167	70	167	Alternative sequence	ID=VSP_043351;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N7B6	122	167	70	122	Alternative sequence	ID=VSP_045095;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N7B6	122	167	1	248	Chain	ID=PRO_0000278243;Note=PACRG-like protein
Q8N7B6	203	230	203	229	Alternative sequence	ID=VSP_023206;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q8N7B6	203	230	204	248	Alternative sequence	ID=VSP_045096;Note=In isoform 4. LSKRLMDKKFKEPITSALQKLEQHGGSGSLSIIKSKIPTYCSICC->DPVQLMRFPRPLLGLMICQKDPWNSGKLLLAVMVSYNTQKIKIKISKGEP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q8N7B6	203	230	1	248	Chain	ID=PRO_0000278243;Note=PACRG-like protein

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SNVs in the skipped exons for PACRGL

- 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.

PACRGL_LUSC_exon_skip_422774_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_422763	20706283	20706437	20706419	20706419	Frame_Shift_Del	C	-	p.N63fs
LIHC	TCGA-DD-A3A0-01	exon_skip_422764 exon_skip_422765	20709426	20709493	20709474	20709474	Frame_Shift_Del	A	-	p.K86fs
HNSC	TCGA-CN-A63W-01	exon_skip_422779 exon_skip_422768	20711306	20711396	20711341	20711341	Frame_Shift_Del	G	-	p.W104fs
STAD	TCGA-HU-A4H4-01	exon_skip_422770 exon_skip_422785 exon_skip_422781	20714411	20714545	20714416	20714417	Frame_Shift_Del	GA	-	p.124_124del
STAD	TCGA-HU-A4H4-01	exon_skip_422770 exon_skip_422785 exon_skip_422781	20714411	20714545	20714416	20714417	Frame_Shift_Del	GA	-	p.L172fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_422770 exon_skip_422785 exon_skip_422781	20714411	20714545	20714493	20714493	Frame_Shift_Del	A	-	p.E150fs
UCEC	TCGA-AP-A0LH-01	exon_skip_422797	20728908	20729020	20728960	20728961	Frame_Shift_Ins	-	T	p.C248fs
LUSC	TCGA-66-2766-01	exon_skip_422763	20706283	20706437	20706339	20706339	Nonsense_Mutation	C	T	p.Q85*
LUSC	TCGA-39-5024-01	exon_skip_422779 exon_skip_422768	20711306	20711396	20711365	20711365	Nonsense_Mutation	C	G	p.S160*
UCEC	TCGA-AX-A0J0-01	exon_skip_422770 exon_skip_422785 exon_skip_422781	20714411	20714545	20714465	20714465	Nonsense_Mutation	G	T	p.E141*
UCEC	TCGA-D1-A103-01	exon_skip_422770 exon_skip_422785 exon_skip_422781	20714411	20714545	20714465	20714465	Nonsense_Mutation	G	T	p.E141*
THYM	TCGA-4V-A9QQ-01	exon_skip_422774	20715055	20715162	20715079	20715079	Nonsense_Mutation	G	T	p.E176X
ACC	TCGA-OR-A5KB-01	exon_skip_422779 exon_skip_422768	20711306	20711396	20711305	20711305	Splice_Site	G	C	.
LUSC	TCGA-43-6770-01	exon_skip_422774	20715055	20715162	20715163	20715163	Splice_Site	G	T	p.S203_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-AX-A0J0-01
	Cancer type: UCEC
	ESID: exon_skip_422781
	Skipped exon start: 20714411
	Skipped exon end: 20714545
	Mutation start: 20714465
	Mutation end: 20714465
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E141*
exon_skip_114672_UCEC_TCGA-AX-A0J0-01.png
exon_skip_145114_UCEC_TCGA-AX-A0J0-01.png
exon_skip_148176_UCEC_TCGA-AX-A0J0-01.png
exon_skip_148178_UCEC_TCGA-AX-A0J0-01.png
exon_skip_26303_UCEC_TCGA-AX-A0J0-01.png
exon_skip_316320_UCEC_TCGA-AX-A0J0-01.png
exon_skip_366628_UCEC_TCGA-AX-A0J0-01.png
exon_skip_422781_UCEC_TCGA-AX-A0J0-01.png
exon_skip_440271_UCEC_TCGA-AX-A0J0-01.png
exon_skip_47562_UCEC_TCGA-AX-A0J0-01.png
exon_skip_500520_UCEC_TCGA-AX-A0J0-01.png
exon_skip_60290_UCEC_TCGA-AX-A0J0-01.png
exon_skip_60294_UCEC_TCGA-AX-A0J0-01.png
	Sample: TCGA-43-6770-01
	Cancer type: LUSC
	ESID: exon_skip_422774
	Skipped exon start: 20715055
	Skipped exon end: 20715162
	Mutation start: 20715163
	Mutation end: 20715163
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: p.S203_splice
exon_skip_422774_LUSC_TCGA-43-6770-01.png
exon_skip_478698_LUSC_TCGA-43-6770-01.png
	Sample: TCGA-CN-A63W-01
	Cancer type: HNSC
	ESID: exon_skip_422768
	Skipped exon start: 20711306
	Skipped exon end: 20711396
	Mutation start: 20711341
	Mutation end: 20711341
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.W104fs
exon_skip_422768_HNSC_TCGA-CN-A63W-01.png
exon_skip_445696_HNSC_TCGA-CN-A63W-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
DU145_PROSTATE	20706283	20706437	20706310	20706310	Missense_Mutation	G	A	p.S27N
MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	20706283	20706437	20706402	20706402	Missense_Mutation	C	T	p.P58S
HPAFII_PANCREAS	20706283	20706437	20706406	20706406	Missense_Mutation	G	T	p.S59I
SUIT2_PANCREAS	20714411	20714545	20714436	20714436	Missense_Mutation	A	C	p.Y131S
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	20714411	20714545	20714463	20714463	Missense_Mutation	G	A	p.R140K
CW2_LARGE_INTESTINE	20714411	20714545	20714472	20714472	Missense_Mutation	T	A	p.L143H
BB65RCC_KIDNEY	20714411	20714545	20714526	20714526	Missense_Mutation	C	G	p.P161R
EN_ENDOMETRIUM	20714411	20714545	20714526	20714526	Missense_Mutation	C	A	p.P161H
SNU1_STOMACH	20714411	20714545	20714540	20714540	Missense_Mutation	G	A	p.A166T
MFE319_ENDOMETRIUM	20715055	20715162	20715115	20715115	Missense_Mutation	G	A	p.V188I
SNU1040_LARGE_INTESTINE	20715055	20715162	20715115	20715115	Missense_Mutation	G	A	p.V188I
KYSE140_OESOPHAGUS	20726431	20726511	20726476	20726476	Missense_Mutation	A	C	p.S219R
KYSE450_OESOPHAGUS	20726431	20726511	20726479	20726479	Missense_Mutation	G	A	p.A220T
KMRC3_KIDNEY	20726431	20726511	20726479	20726479	Missense_Mutation	G	A	p.A220T
GP2D_LARGE_INTESTINE	20726431	20726511	20726492	20726492	Missense_Mutation	T	C	p.L224P
HEC59_ENDOMETRIUM	20728908	20729020	20728911	20728911	Missense_Mutation	A	G	p.S232G

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

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_422756	4	20702082:20702410:20703348:20703507:20703763:20703819	20703348:20703507	ENST00000509625.1	BRCA	rs2874831	chr4:20703376	C/T	1.69e-03
exon_skip_422756	4	20702082:20702410:20703348:20703507:20703763:20703819	20703348:20703507	ENST00000509625.1	BRCA	rs2874831	chr4:20703376	C/T	2.62e-03
exon_skip_422756	4	20702082:20702410:20703348:20703507:20703763:20703819	20703348:20703507	ENST00000509625.1	BRCA	rs2874831	chr4:20703376	C/T	4.06e-03
exon_skip_422756	4	20702082:20702410:20703348:20703507:20703763:20703819	20703348:20703507	ENST00000509625.1	LGG	rs2874831	chr4:20703376	C/T	6.09e-12
exon_skip_422756	4	20702082:20702410:20703348:20703507:20703763:20703819	20703348:20703507	ENST00000509625.1	LGG	rs2874831	chr4:20703376	C/T	1.31e-07
exon_skip_422756	4	20702082:20702410:20703348:20703507:20703763:20703819	20703348:20703507	ENST00000509625.1	PRAD	rs2874831	chr4:20703376	C/T	3.04e-04
exon_skip_422756	4	20702082:20702410:20703348:20703507:20703763:20703819	20703348:20703507	ENST00000509625.1	STAD	rs2874831	chr4:20703376	C/T	8.70e-04
exon_skip_422756	4	20702082:20702410:20703348:20703507:20703763:20703819	20703348:20703507	ENST00000509625.1	THCA	rs2874831	chr4:20703376	C/T	5.58e-04
exon_skip_422758	4	20702293:20702410:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000514485.1	BRCA	rs2874831	chr4:20703376	C/T	1.69e-03
exon_skip_422758	4	20702293:20702410:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000514485.1	BRCA	rs2874831	chr4:20703376	C/T	2.62e-03
exon_skip_422758	4	20702293:20702410:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000514485.1	BRCA	rs2874831	chr4:20703376	C/T	4.06e-03
exon_skip_422758	4	20702293:20702410:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000514485.1	LGG	rs2874831	chr4:20703376	C/T	6.09e-12
exon_skip_422758	4	20702293:20702410:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000514485.1	LGG	rs2874831	chr4:20703376	C/T	1.31e-07
exon_skip_422758	4	20702293:20702410:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000514485.1	PRAD	rs2874831	chr4:20703376	C/T	3.04e-04
exon_skip_422758	4	20702293:20702410:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000514485.1	STAD	rs2874831	chr4:20703376	C/T	8.70e-04
exon_skip_422758	4	20702293:20702410:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000514485.1	THCA	rs2874831	chr4:20703376	C/T	5.58e-04
exon_skip_422738	4	20702103:20702201:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000510051.1	BRCA	rs2874831	chr4:20703376	C/T	1.69e-03
exon_skip_422738	4	20702103:20702201:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000510051.1	BRCA	rs2874831	chr4:20703376	C/T	2.62e-03
exon_skip_422738	4	20702103:20702201:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000510051.1	BRCA	rs2874831	chr4:20703376	C/T	4.06e-03
exon_skip_422738	4	20702103:20702201:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000510051.1	LGG	rs2874831	chr4:20703376	C/T	6.09e-12
exon_skip_422738	4	20702103:20702201:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000510051.1	LGG	rs2874831	chr4:20703376	C/T	1.31e-07
exon_skip_422738	4	20702103:20702201:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000510051.1	PRAD	rs2874831	chr4:20703376	C/T	3.04e-04
exon_skip_422738	4	20702103:20702201:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000510051.1	STAD	rs2874831	chr4:20703376	C/T	8.70e-04
exon_skip_422738	4	20702103:20702201:20703380:20703507:20703763:20703819	20703380:20703507	ENST00000510051.1	THCA	rs2874831	chr4:20703376	C/T	5.58e-04
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	CESC	rs4577580	chr4:20720532	A/C	1.55e-04
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	COAD	rs4577580	chr4:20720532	A/C	1.58e-06
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	BLCA	rs4577580	chr4:20720532	A/C	1.99e-07
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	HNSC	rs4577580	chr4:20720532	A/C	4.39e-07
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	BRCA	rs4577580	chr4:20720532	A/C	8.25e-13
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	KICH	rs4577580	chr4:20720532	A/C	2.09e-04
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	LGG	rs4577580	chr4:20720532	A/C	1.86e-07
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	KIRC	rs4577580	chr4:20720532	A/C	5.06e-05
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	LUAD	rs4577580	chr4:20720532	A/C	2.99e-05
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	LUSC	rs4577580	chr4:20720532	A/C	2.32e-04
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	LUSC	rs4577580	chr4:20720532	A/C	2.32e-04
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	LUSC	rs4577580	chr4:20720532	A/C	1.16e-03
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	OV	rs4577580	chr4:20720532	A/C	1.12e-03
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	READ	rs4577580	chr4:20720532	A/C	3.17e-04
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	PAAD	rs4577580	chr4:20720532	A/C	2.51e-05
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	PRAD	rs4577580	chr4:20720532	A/C	1.35e-05
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	THYM	rs4577580	chr4:20720532	A/C	1.83e-05
exon_skip_422791	4	20715054:20715162:20720438:20720599:20726430:20726502	20720438:20720599	ENST00000506951.1	THCA	rs4577580	chr4:20720532	A/C	1.33e-10

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

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

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RelatedDrugs for PACRGL

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 PACRGL

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

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

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Gene summary for PACRGL

Exon skipping events across known transcript of Ensembl for PACRGL from UCSC genome browser

Gene isoform structures and expression levels for PACRGL

Exon skipping events with PSIs in TCGA for PACRGL

Exon skipping events with PSIs in GTEx for PACRGL

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

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

SNVs in the skipped exons for PACRGL

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

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

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

RelatedDrugs for PACRGL

RelatedDiseases for PACRGL