ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PKP4

Gene summary

Gene information	Gene symbol	PKP4
	Gene ID	8502
	Gene name	plakophilin 4
	Synonyms	p0071
	Cytomap	2q24.1
	Type of gene	protein-coding
	Description	plakophilin-4catenin 4
	Modification date	20180527
	UniProtAcc	Q99569
	Context	PubMed: PKP4 [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
PKP4	GO:0043547	positive regulation of GTPase activity	17115030

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Exon skipping events across known transcript of Ensembl for PKP4 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 PKP4

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 PKP4

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_330491	2	159313647:159313730:159389691:159389828:159433782:159433895	159389691:159389828	ENSG00000144283.17	ENST00000411900.1,ENST00000389757.3,ENST00000389759.3
exon_skip_330492	2	159313647:159313730:159389691:159389828:159459581:159459616	159389691:159389828	ENSG00000144283.17	ENST00000452162.1
exon_skip_330495	2	159314704:159314819:159389691:159389828:159433782:159433895	159389691:159389828	ENSG00000144283.17	ENST00000421462.1
exon_skip_330497	2	159389691:159389828:159389949:159390046:159433782:159433895	159389949:159390046	ENSG00000144283.17	ENST00000457109.1
exon_skip_330499	2	159389691:159389828:159433782:159433895:159459581:159459616	159433782:159433895	ENSG00000144283.17	ENST00000389757.3,ENST00000389759.3,ENST00000421462.1,ENST00000426248.3
exon_skip_330501	2	159389691:159389828:159459581:159459616:159477501:159477534	159459581:159459616	ENSG00000144283.17	ENST00000452162.1
exon_skip_330502	2	159389949:159390046:159433782:159433895:159459581:159459616	159433782:159433895	ENSG00000144283.17	ENST00000457109.1
exon_skip_330503	2	159433852:159433895:159434680:159434775:159444736:159444797	159434680:159434775	ENSG00000144283.17	ENST00000411900.1
exon_skip_330507	2	159433852:159433895:159459581:159459616:159477501:159477534	159459581:159459616	ENSG00000144283.17	ENST00000389757.3,ENST00000481115.2,ENST00000389759.3,ENST00000457109.1,ENST00000421462.1,ENST00000462335.1,ENST00000426248.3
exon_skip_330509	2	159477742:159477933:159481389:159481939:159488264:159488444	159481389:159481939	ENSG00000144283.17	ENST00000389757.3,ENST00000389759.3,ENST00000452162.1
exon_skip_330511	2	159477742:159477933:159481466:159481939:159488264:159488444	159481466:159481939	ENSG00000144283.17	ENST00000421462.1,ENST00000426248.3
exon_skip_330513	2	159477742:159477933:159481636:159481939:159488264:159488444	159481636:159481939	ENSG00000144283.17	ENST00000481115.2
exon_skip_330515	2	159490584:159490801:159497138:159497271:159498997:159499211	159497138:159497271	ENSG00000144283.17	ENST00000389757.3,ENST00000389759.3,ENST00000452162.1,ENST00000421462.1,ENST00000426248.3
exon_skip_330518	2	159497138:159497271:159498997:159499211:159514642:159514826	159498997:159499211	ENSG00000144283.17	ENST00000389757.3,ENST00000389759.3,ENST00000452162.1,ENST00000421462.1,ENST00000426248.3
exon_skip_330519	2	159499031:159499211:159514642:159514826:159517844:159517962	159514642:159514826	ENSG00000144283.17	ENST00000492496.1,ENST00000389757.3,ENST00000389759.3,ENST00000452162.1,ENST00000421462.1,ENST00000426248.3
exon_skip_330530	2	159522924:159523075:159526231:159526427:159530188:159530273	159526231:159526427	ENSG00000144283.17	ENST00000480171.3,ENST00000389757.3,ENST00000389759.3,ENST00000426248.3
exon_skip_330535	2	159530394:159530512:159533250:159533379:159535092:159535166	159533250:159533379	ENSG00000144283.17	ENST00000480171.3,ENST00000389759.3,ENST00000426248.3
exon_skip_330545	2	159530394:159530512:159535092:159535166:159536940:159537564	159535092:159535166	ENSG00000144283.17	ENST00000389757.3
exon_skip_330553	2	159533250:159533379:159535092:159535166:159536940:159537564	159535092:159535166	ENSG00000144283.17	ENST00000480171.3,ENST00000389759.3,ENST00000426248.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PKP4

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_330491	2	159313647:159313730:159389691:159389828:159433782:159433895	159389691:159389828	ENSG00000144283.17	ENST00000389757.3,ENST00000389759.3,ENST00000411900.1
exon_skip_330492	2	159313647:159313730:159389691:159389828:159459581:159459616	159389691:159389828	ENSG00000144283.17	ENST00000452162.1
exon_skip_330495	2	159314704:159314819:159389691:159389828:159433782:159433895	159389691:159389828	ENSG00000144283.17	ENST00000421462.1
exon_skip_330497	2	159389691:159389828:159389949:159390046:159433782:159433895	159389949:159390046	ENSG00000144283.17	ENST00000457109.1
exon_skip_330499	2	159389691:159389828:159433782:159433895:159459581:159459616	159433782:159433895	ENSG00000144283.17	ENST00000426248.3,ENST00000389757.3,ENST00000389759.3,ENST00000421462.1
exon_skip_330501	2	159389691:159389828:159459581:159459616:159477501:159477534	159459581:159459616	ENSG00000144283.17	ENST00000452162.1
exon_skip_330502	2	159389949:159390046:159433782:159433895:159459581:159459616	159433782:159433895	ENSG00000144283.17	ENST00000457109.1
exon_skip_330503	2	159433852:159433895:159434680:159434775:159444736:159444797	159434680:159434775	ENSG00000144283.17	ENST00000411900.1
exon_skip_330507	2	159433852:159433895:159459581:159459616:159477501:159477534	159459581:159459616	ENSG00000144283.17	ENST00000426248.3,ENST00000389757.3,ENST00000389759.3,ENST00000457109.1,ENST00000421462.1,ENST00000462335.1,ENST00000481115.2
exon_skip_330509	2	159477742:159477933:159481389:159481939:159488264:159488444	159481389:159481939	ENSG00000144283.17	ENST00000389757.3,ENST00000389759.3,ENST00000452162.1
exon_skip_330511	2	159477742:159477933:159481466:159481939:159488264:159488444	159481466:159481939	ENSG00000144283.17	ENST00000426248.3,ENST00000421462.1
exon_skip_330513	2	159477742:159477933:159481636:159481939:159488264:159488444	159481636:159481939	ENSG00000144283.17	ENST00000481115.2
exon_skip_330515	2	159490584:159490801:159497138:159497271:159498997:159499211	159497138:159497271	ENSG00000144283.17	ENST00000426248.3,ENST00000389757.3,ENST00000389759.3,ENST00000452162.1,ENST00000421462.1
exon_skip_330518	2	159497138:159497271:159498997:159499211:159514642:159514826	159498997:159499211	ENSG00000144283.17	ENST00000426248.3,ENST00000389757.3,ENST00000389759.3,ENST00000452162.1,ENST00000421462.1
exon_skip_330519	2	159499031:159499211:159514642:159514826:159517844:159517962	159514642:159514826	ENSG00000144283.17	ENST00000426248.3,ENST00000389757.3,ENST00000389759.3,ENST00000452162.1,ENST00000421462.1,ENST00000492496.1
exon_skip_330530	2	159522924:159523075:159526231:159526427:159530188:159530273	159526231:159526427	ENSG00000144283.17	ENST00000426248.3,ENST00000389757.3,ENST00000389759.3,ENST00000480171.3
exon_skip_330535	2	159530394:159530512:159533250:159533379:159535092:159535166	159533250:159533379	ENSG00000144283.17	ENST00000426248.3,ENST00000389759.3,ENST00000480171.3
exon_skip_330545	2	159530394:159530512:159535092:159535166:159536940:159537564	159535092:159535166	ENSG00000144283.17	ENST00000389757.3
exon_skip_330553	2	159533250:159533379:159535092:159535166:159536940:159537564	159535092:159535166	ENSG00000144283.17	ENST00000426248.3,ENST00000389759.3,ENST00000480171.3

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 PKP4

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
ENST00000389759	159389691	159389828	5CDS-5UTR
ENST00000389759	159433782	159433895	Frame-shift
ENST00000389759	159459581	159459616	Frame-shift
ENST00000389759	159481389	159481939	Frame-shift
ENST00000389759	159497138	159497271	Frame-shift
ENST00000389759	159498997	159499211	Frame-shift
ENST00000389759	159514642	159514826	Frame-shift
ENST00000389759	159526231	159526427	Frame-shift
ENST00000389759	159535092	159535166	Frame-shift
ENST00000389759	159533250	159533379	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
ENST00000389759	159389691	159389828	5CDS-5UTR
ENST00000389759	159433782	159433895	Frame-shift
ENST00000389759	159459581	159459616	Frame-shift
ENST00000389759	159481389	159481939	Frame-shift
ENST00000389759	159497138	159497271	Frame-shift
ENST00000389759	159498997	159499211	Frame-shift
ENST00000389759	159514642	159514826	Frame-shift
ENST00000389759	159526231	159526427	Frame-shift
ENST00000389759	159535092	159535166	Frame-shift
ENST00000389759	159533250	159533379	In-frame

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Infer the effects of exon skipping event on protein functional features for PKP4

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
ENST00000389759	4460	1192	159533250	159533379	3240	3368	1042	1085

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
ENST00000389759	4460	1192	159533250	159533379	3240	3368	1042	1085

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
Q99569	1042	1085	1043	1085	Alternative sequence	ID=VSP_006737;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:8937994;Dbxref=PMID:15489334,PMID:8937994
Q99569	1042	1085	1	1192	Chain	ID=PRO_0000064289;Note=Plakophilin-4
Q99569	1042	1085	1045	1045	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q68FH0

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
Q99569	1042	1085	1043	1085	Alternative sequence	ID=VSP_006737;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:8937994;Dbxref=PMID:15489334,PMID:8937994
Q99569	1042	1085	1	1192	Chain	ID=PRO_0000064289;Note=Plakophilin-4
Q99569	1042	1085	1045	1045	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q68FH0

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SNVs in the skipped exons for PKP4

- 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_330499 exon_skip_330502	159433783	159433895	159433823	159433823	Frame_Shift_Del	A	-	p.E58fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330501 exon_skip_330507	159459582	159459616	159459598	159459598	Frame_Shift_Del	T	-	p.F88fs
LUAD	TCGA-17-Z030-01	exon_skip_330509	159481390	159481939	159481557	159481557	Frame_Shift_Del	C	-	p.N257fs
LUAD	TCGA-17-Z030-01	exon_skip_330511	159481467	159481939	159481557	159481557	Frame_Shift_Del	C	-	p.N257fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330509	159481390	159481939	159481694	159481694	Frame_Shift_Del	C	-	p.T303fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330511	159481467	159481939	159481694	159481694	Frame_Shift_Del	C	-	p.T303fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330513	159481637	159481939	159481694	159481694	Frame_Shift_Del	C	-	p.T303fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330509	159481390	159481939	159481722	159481722	Frame_Shift_Del	G	-	p.V312fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330511	159481467	159481939	159481722	159481722	Frame_Shift_Del	G	-	p.V312fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330513	159481637	159481939	159481722	159481722	Frame_Shift_Del	G	-	p.V312fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_330530	159526232	159526427	159526281	159526281	Frame_Shift_Del	C	-	p.G926fs
STAD	TCGA-HU-A4H3-01	exon_skip_330509	159481390	159481939	159481627	159481628	Frame_Shift_Ins	-	C	p.S281fs
STAD	TCGA-HU-A4H3-01	exon_skip_330511	159481467	159481939	159481627	159481628	Frame_Shift_Ins	-	C	p.S281fs
STAD	TCGA-HU-A4H3-01	exon_skip_330509	159481390	159481939	159481628	159481629	Frame_Shift_Ins	-	C	p.S281fs
STAD	TCGA-HU-A4H3-01	exon_skip_330511	159481467	159481939	159481628	159481629	Frame_Shift_Ins	-	C	p.S281fs
UCEC	TCGA-D1-A17C-01	exon_skip_330509	159481390	159481939	159481458	159481458	Nonsense_Mutation	T	A	p.Y224*
LIHC	TCGA-BD-A3EP-01	exon_skip_330509	159481390	159481939	159481873	159481873	Nonsense_Mutation	C	T	p.Q363*
LIHC	TCGA-BD-A3EP-01	exon_skip_330509	159481390	159481939	159481873	159481873	Nonsense_Mutation	C	T	p.Q363X
LIHC	TCGA-BD-A3EP-01	exon_skip_330511	159481467	159481939	159481873	159481873	Nonsense_Mutation	C	T	p.Q363*
LIHC	TCGA-BD-A3EP-01	exon_skip_330511	159481467	159481939	159481873	159481873	Nonsense_Mutation	C	T	p.Q363X
LIHC	TCGA-BD-A3EP-01	exon_skip_330513	159481637	159481939	159481873	159481873	Nonsense_Mutation	C	T	p.Q363*
LIHC	TCGA-BD-A3EP-01	exon_skip_330513	159481637	159481939	159481873	159481873	Nonsense_Mutation	C	T	p.Q363X
LUAD	TCGA-67-3772-01	exon_skip_330518	159498998	159499211	159499085	159499085	Nonsense_Mutation	C	T	p.R595*
UCEC	TCGA-AP-A056-01	exon_skip_330518	159498998	159499211	159499085	159499085	Nonsense_Mutation	C	T	p.R595*
BLCA	TCGA-E7-A677-01	exon_skip_330518	159498998	159499211	159499163	159499163	Nonsense_Mutation	C	T	p.R621*
LUSC	TCGA-22-4599-01	exon_skip_330518	159498998	159499211	159499163	159499163	Nonsense_Mutation	C	T	p.R621*
UCEC	TCGA-BS-A0UV-01	exon_skip_330519	159514643	159514826	159514693	159514693	Nonsense_Mutation	C	T	p.R654*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_330511
	Skipped exon start: 159481467
	Skipped exon end: 159481939
	Mutation start: 159481627
	Mutation end: 159481628
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.S281fs
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_330509
	Skipped exon start: 159481390
	Skipped exon end: 159481939
	Mutation start: 159481627
	Mutation end: 159481628
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.S281fs
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_330511
	Skipped exon start: 159481467
	Skipped exon end: 159481939
	Mutation start: 159481628
	Mutation end: 159481629
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.S281fs
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_330509
	Skipped exon start: 159481390
	Skipped exon end: 159481939
	Mutation start: 159481628
	Mutation end: 159481629
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.S281fs
exon_skip_101895_STAD_TCGA-HU-A4H3-01.png
exon_skip_101900_STAD_TCGA-HU-A4H3-01.png
exon_skip_134053_STAD_TCGA-HU-A4H3-01.png
exon_skip_142361_STAD_TCGA-HU-A4H3-01.png
exon_skip_21488_STAD_TCGA-HU-A4H3-01.png
exon_skip_286384_STAD_TCGA-HU-A4H3-01.png
exon_skip_299738_STAD_TCGA-HU-A4H3-01.png
exon_skip_307491_STAD_TCGA-HU-A4H3-01.png
exon_skip_308974_STAD_TCGA-HU-A4H3-01.png
exon_skip_308983_STAD_TCGA-HU-A4H3-01.png
exon_skip_312995_STAD_TCGA-HU-A4H3-01.png
exon_skip_320688_STAD_TCGA-HU-A4H3-01.png
exon_skip_320689_STAD_TCGA-HU-A4H3-01.png
exon_skip_320690_STAD_TCGA-HU-A4H3-01.png
exon_skip_328488_STAD_TCGA-HU-A4H3-01.png
exon_skip_330511_STAD_TCGA-HU-A4H3-01.png
exon_skip_450406_STAD_TCGA-HU-A4H3-01.png
exon_skip_60290_STAD_TCGA-HU-A4H3-01.png
exon_skip_60294_STAD_TCGA-HU-A4H3-01.png
exon_skip_69561_STAD_TCGA-HU-A4H3-01.png
exon_skip_74347_STAD_TCGA-HU-A4H3-01.png
exon_skip_8059_STAD_TCGA-HU-A4H3-01.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
BICR18_UPPER_AERODIGESTIVE_TRACT	159389692	159389828	159389749	159389749	Missense_Mutation	G	A	p.R18H
CAL27_UPPER_AERODIGESTIVE_TRACT	159389692	159389828	159389749	159389749	Missense_Mutation	G	A	p.R18H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159389692	159389828	159389749	159389749	Missense_Mutation	G	A	p.R18H
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159389692	159389828	159389749	159389749	Missense_Mutation	G	A	p.R18H
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159389692	159389828	159389749	159389749	Missense_Mutation	G	A	p.R18H
S117_SOFT_TISSUE	159389692	159389828	159389749	159389749	Missense_Mutation	G	A	p.R18H
JHUEM2_ENDOMETRIUM	159389692	159389828	159389754	159389754	Missense_Mutation	G	A	p.E20K
BICR18_UPPER_AERODIGESTIVE_TRACT	159389692	159389828	159389761	159389761	Missense_Mutation	C	T	p.A22V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159389692	159389828	159389761	159389761	Missense_Mutation	C	T	p.A22V
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159389692	159389828	159389761	159389761	Missense_Mutation	C	T	p.A22V
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159389692	159389828	159389761	159389761	Missense_Mutation	C	T	p.A22V
S117_SOFT_TISSUE	159389692	159389828	159389761	159389761	Missense_Mutation	C	T	p.A22V
BCPAP_THYROID	159389692	159389828	159389772	159389772	Missense_Mutation	C	G	p.P26A
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159433783	159433895	159433808	159433808	Missense_Mutation	G	A	p.R53Q
NH12_AUTONOMIC_GANGLIA	159433783	159433895	159433891	159433891	Missense_Mutation	A	G	p.T81A
FUOV1_OVARY	159481390	159481939	159481403	159481403	Missense_Mutation	A	G	p.N206S
A431_SKIN	159481390	159481939	159481418	159481418	Missense_Mutation	G	A	p.R211K
HUCCT1_BILIARY_TRACT	159481390	159481939	159481439	159481439	Missense_Mutation	G	T	p.R218I
BICR18_UPPER_AERODIGESTIVE_TRACT	159481467	159481939	159481463	159481463	Missense_Mutation	T	C	p.I226T
BICR18_UPPER_AERODIGESTIVE_TRACT	159481390	159481939	159481463	159481463	Missense_Mutation	T	C	p.I226T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481467	159481939	159481463	159481463	Missense_Mutation	T	C	p.I226T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481390	159481939	159481463	159481463	Missense_Mutation	T	C	p.I226T
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481467	159481939	159481471	159481471	Missense_Mutation	G	T	p.G229C
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481390	159481939	159481471	159481471	Missense_Mutation	G	T	p.G229C
HEC1A_ENDOMETRIUM	159481467	159481939	159481474	159481474	Missense_Mutation	G	A	p.V230M
HEC1A_ENDOMETRIUM	159481390	159481939	159481474	159481474	Missense_Mutation	G	A	p.V230M
HEC1_ENDOMETRIUM	159481467	159481939	159481474	159481474	Missense_Mutation	G	A	p.V230M
HEC1_ENDOMETRIUM	159481390	159481939	159481474	159481474	Missense_Mutation	G	A	p.V230M
HEC1B_ENDOMETRIUM	159481467	159481939	159481474	159481474	Missense_Mutation	G	A	p.V230M
HEC1B_ENDOMETRIUM	159481390	159481939	159481474	159481474	Missense_Mutation	G	A	p.V230M
BB65EBV_MATCHED_NORMAL_TISSUE	159481467	159481939	159481522	159481522	Missense_Mutation	G	T	p.G246C
BB65EBV_MATCHED_NORMAL_TISSUE	159481390	159481939	159481522	159481522	Missense_Mutation	G	T	p.G246C
BB65RCC_KIDNEY	159481467	159481939	159481522	159481522	Missense_Mutation	G	T	p.G246C
BB65RCC_KIDNEY	159481390	159481939	159481522	159481522	Missense_Mutation	G	T	p.G246C
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481467	159481939	159481588	159481588	Missense_Mutation	G	A	p.A268T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481390	159481939	159481588	159481588	Missense_Mutation	G	A	p.A268T
OCUM1_STOMACH	159481467	159481939	159481595	159481595	Missense_Mutation	G	A	p.R270Q
OCUM1_STOMACH	159481390	159481939	159481595	159481595	Missense_Mutation	G	A	p.R270Q
RKO_LARGE_INTESTINE	159481467	159481939	159481600	159481600	Missense_Mutation	G	A	p.A272T
RKO_LARGE_INTESTINE	159481390	159481939	159481600	159481600	Missense_Mutation	G	A	p.A272T
INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481467	159481939	159481757	159481757	Missense_Mutation	G	A	p.R324Q
INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481637	159481939	159481757	159481757	Missense_Mutation	G	A	p.R324Q
INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481390	159481939	159481757	159481757	Missense_Mutation	G	A	p.R324Q
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	159481467	159481939	159481793	159481793	Missense_Mutation	C	T	p.S336L
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	159481637	159481939	159481793	159481793	Missense_Mutation	C	T	p.S336L
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	159481390	159481939	159481793	159481793	Missense_Mutation	C	T	p.S336L
HT1197_URINARY_TRACT	159481467	159481939	159481817	159481817	Missense_Mutation	C	T	p.T344I
HT1197_URINARY_TRACT	159481637	159481939	159481817	159481817	Missense_Mutation	C	T	p.T344I
HT1197_URINARY_TRACT	159481390	159481939	159481817	159481817	Missense_Mutation	C	T	p.T344I
BICR18_UPPER_AERODIGESTIVE_TRACT	159481467	159481939	159481872	159481872	Missense_Mutation	G	C	p.E362D
BICR18_UPPER_AERODIGESTIVE_TRACT	159481637	159481939	159481872	159481872	Missense_Mutation	G	C	p.E362D
BICR18_UPPER_AERODIGESTIVE_TRACT	159481390	159481939	159481872	159481872	Missense_Mutation	G	C	p.E362D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481467	159481939	159481872	159481872	Missense_Mutation	G	C	p.E362D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481637	159481939	159481872	159481872	Missense_Mutation	G	C	p.E362D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159481390	159481939	159481872	159481872	Missense_Mutation	G	C	p.E362D
OCUBM_BREAST	159481467	159481939	159481924	159481924	Missense_Mutation	C	T	p.P380S
OCUBM_BREAST	159481637	159481939	159481924	159481924	Missense_Mutation	C	T	p.P380S
OCUBM_BREAST	159481390	159481939	159481924	159481924	Missense_Mutation	C	T	p.P380S
SCLC22H_LUNG	159497139	159497271	159497192	159497192	Missense_Mutation	A	T	p.H539L
SCLC21H_LUNG	159497139	159497271	159497192	159497192	Missense_Mutation	A	T	p.H539L
RO82W1_THYROID	159497139	159497271	159497210	159497210	Missense_Mutation	A	T	p.Q545L
8MGBA_CENTRAL_NERVOUS_SYSTEM	159498998	159499211	159499011	159499011	Missense_Mutation	G	A	p.G570E
HEC1A_ENDOMETRIUM	159498998	159499211	159499047	159499047	Missense_Mutation	G	T	p.R582I
LOXIMVI_SKIN	159498998	159499211	159499094	159499094	Missense_Mutation	G	A	p.V598I
EW8_BONE	159514643	159514826	159514798	159514798	Missense_Mutation	G	A	p.V689I
RH1_SOFT_TISSUE	159514643	159514826	159514798	159514798	Missense_Mutation	G	A	p.V689I
MCC13_SKIN	159526232	159526427	159526267	159526267	Missense_Mutation	C	T	p.P922S
OCUBM_BREAST	159526232	159526427	159526313	159526313	Missense_Mutation	C	T	p.A937V
NUGC4_STOMACH	159526232	159526427	159526315	159526315	Missense_Mutation	A	T	p.I938F
MKN74_STOMACH	159526232	159526427	159526360	159526360	Missense_Mutation	G	A	p.A953T
MKN28_STOMACH	159526232	159526427	159526360	159526360	Missense_Mutation	G	A	p.A953T
NCIH2347_LUNG	159526232	159526427	159526417	159526417	Missense_Mutation	A	G	p.R972G
SW756_CERVIX	159526232	159526427	159526419	159526419	Missense_Mutation	G	T	p.R972S
BICR18_UPPER_AERODIGESTIVE_TRACT	159533251	159533379	159533294	159533294	Missense_Mutation	C	G	p.D1057E
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159533251	159533379	159533294	159533294	Missense_Mutation	C	G	p.D1057E
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159533251	159533379	159533294	159533294	Missense_Mutation	C	G	p.D1057E
S117_SOFT_TISSUE	159533251	159533379	159533294	159533294	Missense_Mutation	C	G	p.D1057E
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159533251	159533379	159533299	159533299	Missense_Mutation	G	A	p.R1059H
SNGM_ENDOMETRIUM	159533251	159533379	159533302	159533302	Missense_Mutation	C	T	p.S1060F
KALS1_CENTRAL_NERVOUS_SYSTEM	159533251	159533379	159533310	159533310	Missense_Mutation	G	A	p.D1063N
IGROV1_OVARY	159533251	159533379	159533313	159533313	Missense_Mutation	A	G	p.R1064G
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159533251	159533379	159533347	159533347	Missense_Mutation	A	G	p.Q1075R
BICR18_UPPER_AERODIGESTIVE_TRACT	159533251	159533379	159533354	159533355	Missense_Mutation	TG	CA	p.A1078T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159533251	159533379	159533354	159533355	Missense_Mutation	TG	CA	p.A1078T
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	159533251	159533379	159533354	159533355	Missense_Mutation	TG	CA	p.A1078T
BICR18_UPPER_AERODIGESTIVE_TRACT	159533251	159533379	159533355	159533355	Missense_Mutation	G	A	p.A1078T
S117_SOFT_TISSUE	159533251	159533379	159533355	159533355	Missense_Mutation	G	A	p.A1078T
HEC251_ENDOMETRIUM	159535093	159535166	159535105	159535105	Missense_Mutation	C	A	p.P1090H
HCC2450_LUNG	159535093	159535166	159535144	159535144	Missense_Mutation	G	A	p.R1103K
MFM223_BREAST	159535093	159535166	159535158	159535158	Missense_Mutation	C	T	p.R1108W
NCIH630_LARGE_INTESTINE	159481467	159481939	159481669	159481669	Nonsense_Mutation	C	T	p.Q295*
NCIH630_LARGE_INTESTINE	159481637	159481939	159481669	159481669	Nonsense_Mutation	C	T	p.Q295*
NCIH630_LARGE_INTESTINE	159481390	159481939	159481669	159481669	Nonsense_Mutation	C	T	p.Q295*
MESSA_SOFT_TISSUE	159389692	159389828	159389827	159389827	Splice_Site	A	G	p.Q44R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PKP4

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_330519	2	159499031:159499211:159514642:159514826:159517844:159517962	159514642:159514826	ENST00000492496.1,ENST00000389757.3,ENST00000389759.3,ENST00000452162.1,ENST00000421462.1,ENST00000426248.3	COAD	rs8272	chr2:159514812	G/A	1.09e-04
exon_skip_330519	2	159499031:159499211:159514642:159514826:159517844:159517962	159514642:159514826	ENST00000492496.1,ENST00000389757.3,ENST00000389759.3,ENST00000452162.1,ENST00000421462.1,ENST00000426248.3	KIRC	rs8272	chr2:159514812	G/A	2.42e-03
exon_skip_330503	2	159433852:159433895:159434680:159434775:159444736:159444797	159434680:159434775	ENST00000411900.1	BRCA	rs10933494	chr2:159434727	T/G	2.03e-03
exon_skip_330503	2	159433852:159433895:159434680:159434775:159444736:159444797	159434680:159434775	ENST00000411900.1	LGG	rs10933494	chr2:159434727	T/G	2.30e-06
exon_skip_330503	2	159433852:159433895:159434680:159434775:159444736:159444797	159434680:159434775	ENST00000411900.1	SARC	rs10933494	chr2:159434727	T/G	1.16e-03
exon_skip_330503	2	159433852:159433895:159434680:159434775:159444736:159444797	159434680:159434775	ENST00000411900.1	THCA	rs10933494	chr2:159434727	T/G	1.32e-03
exon_skip_330503	2	159433852:159433895:159434680:159434775:159444736:159444797	159434680:159434775	ENST00000411900.1	THCA	rs10933494	chr2:159434727	T/G	1.35e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PKP4

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PKP4

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RelatedDrugs for PKP4

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 PKP4

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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