ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PRKDC

Gene summary

Gene information	Gene symbol	PRKDC
	Gene ID	5591
	Gene name	protein kinase, DNA-activated, catalytic polypeptide
	Synonyms	DNA-PKcs\|DNAPK\|DNPK1\|HYRC\|HYRC1\|IMD26\|XRCC7\|p350
	Cytomap	8q11.21
	Type of gene	protein-coding
	Description	DNA-dependent protein kinase catalytic subunitDNA-PK catalytic subunithyper-radiosensitivity of murine scid mutation, complementing 1p460
	Modification date	20180523
	UniProtAcc	P78527
	Context	PubMed: PRKDC [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
PRKDC	GO:0002218	activation of innate immune response	28712728
PRKDC	GO:0018105	peptidyl-serine phosphorylation	15194694\|19303849

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Exon skipping events across known transcript of Ensembl for PRKDC 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 PRKDC

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 PRKDC

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_489571	8	48686694:48686938:48689404:48689544:48690246:48690435	48689404:48689544	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2,ENST00000536483.1
exon_skip_489574	8	48689404:48689544:48690246:48690435:48691019:48691098	48690246:48690435	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2,ENST00000536483.1
exon_skip_489575	8	48691564:48691654:48694722:48694815:48694938:48695152	48694722:48694815	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000521331.1
exon_skip_489578	8	48694974:48695159:48696302:48696370:48697673:48697878	48696302:48696370	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489582	8	48701711:48701799:48706850:48707062:48710797:48710958	48706850:48707062	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489585	8	48710797:48710958:48711770:48711951:48713353:48713547	48711770:48711951	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489587	8	48736418:48736557:48739216:48739422:48740728:48740908	48739216:48739422	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489590	8	48766643:48766775:48767782:48767934:48769716:48769860	48767782:48767934	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489591	8	48775959:48776138:48777116:48777324:48790284:48790412	48777116:48777324	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489592	8	48794472:48794658:48798504:48798708:48800107:48800266	48798504:48798708	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489593	8	48798504:48798708:48800107:48800266:48801078:48801211	48800107:48800266	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489594	8	48802817:48803041:48805699:48805947:48809720:48809854	48805699:48805947	ENSG00000253729.3	ENST00000518216.1,ENST00000523565.1
exon_skip_489595	8	48805816:48805947:48809720:48809854:48811029:48811129	48809720:48809854	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489599	8	48809720:48809854:48811029:48811129:48812932:48813027	48811029:48811129	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489600	8	48815128:48815355:48817428:48817536:48824969:48825122	48817428:48817536	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489601	8	48827887:48827978:48830836:48830943:48839753:48839913	48830836:48830943	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489602	8	48843231:48843347:48845579:48845732:48846524:48846650	48845579:48845732	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489603	8	48847568:48847618:48848291:48848460:48848912:48849077	48848291:48848460	ENSG00000253729.3	ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2
exon_skip_489604	8	48866909:48867006:48868433:48868508:48869730:48869823	48868433:48868508	ENSG00000253729.3	ENST00000540819.1,ENST00000338368.3,ENST00000518216.1,ENST00000523565.1,ENST00000314191.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PRKDC

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_489571	8	48686694:48686938:48689404:48689544:48690246:48690435	48689404:48689544	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1,ENST00000536483.1
exon_skip_489574	8	48689404:48689544:48690246:48690435:48691019:48691098	48690246:48690435	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1,ENST00000536483.1
exon_skip_489575	8	48691564:48691654:48694722:48694815:48694938:48695152	48694722:48694815	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000521331.1
exon_skip_489578	8	48694974:48695159:48696302:48696370:48697673:48697878	48696302:48696370	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489582	8	48701711:48701799:48706850:48707062:48710797:48710958	48706850:48707062	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489585	8	48710797:48710958:48711770:48711951:48713353:48713547	48711770:48711951	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489587	8	48736418:48736557:48739216:48739422:48740728:48740908	48739216:48739422	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489590	8	48766643:48766775:48767782:48767934:48769716:48769860	48767782:48767934	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489591	8	48775959:48776138:48777116:48777324:48790284:48790412	48777116:48777324	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489592	8	48794472:48794658:48798504:48798708:48800107:48800266	48798504:48798708	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489593	8	48798504:48798708:48800107:48800266:48801078:48801211	48800107:48800266	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489594	8	48802817:48803041:48805699:48805947:48809720:48809854	48805699:48805947	ENSG00000253729.3	ENST00000523565.1,ENST00000518216.1
exon_skip_489595	8	48805816:48805947:48809720:48809854:48811029:48811129	48809720:48809854	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489599	8	48809720:48809854:48811029:48811129:48812932:48813027	48811029:48811129	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489600	8	48815128:48815355:48817428:48817536:48824969:48825122	48817428:48817536	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489601	8	48827887:48827978:48830836:48830943:48839753:48839913	48830836:48830943	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489602	8	48843231:48843347:48845579:48845732:48846524:48846650	48845579:48845732	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489603	8	48847568:48847618:48848291:48848460:48848912:48849077	48848291:48848460	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1
exon_skip_489604	8	48866909:48867006:48868433:48868508:48869730:48869823	48868433:48868508	ENSG00000253729.3	ENST00000523565.1,ENST00000314191.2,ENST00000338368.3,ENST00000518216.1,ENST00000540819.1

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 PRKDC

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
ENST00000314191	48689404	48689544	Frame-shift
ENST00000314191	48696302	48696370	Frame-shift
ENST00000314191	48706850	48707062	Frame-shift
ENST00000314191	48711770	48711951	Frame-shift
ENST00000314191	48739216	48739422	Frame-shift
ENST00000314191	48767782	48767934	Frame-shift
ENST00000314191	48777116	48777324	Frame-shift
ENST00000314191	48809720	48809854	Frame-shift
ENST00000314191	48811029	48811129	Frame-shift
ENST00000314191	48830836	48830943	Frame-shift
ENST00000314191	48848291	48848460	Frame-shift
ENST00000314191	48690246	48690435	In-frame
ENST00000314191	48694722	48694815	In-frame
ENST00000314191	48798504	48798708	In-frame
ENST00000314191	48800107	48800266	In-frame
ENST00000314191	48817428	48817536	In-frame
ENST00000314191	48845579	48845732	In-frame
ENST00000314191	48868433	48868508	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
ENST00000314191	48689404	48689544	Frame-shift
ENST00000314191	48696302	48696370	Frame-shift
ENST00000314191	48706850	48707062	Frame-shift
ENST00000314191	48711770	48711951	Frame-shift
ENST00000314191	48739216	48739422	Frame-shift
ENST00000314191	48767782	48767934	Frame-shift
ENST00000314191	48777116	48777324	Frame-shift
ENST00000314191	48809720	48809854	Frame-shift
ENST00000314191	48811029	48811129	Frame-shift
ENST00000314191	48830836	48830943	Frame-shift
ENST00000314191	48848291	48848460	Frame-shift
ENST00000314191	48690246	48690435	In-frame
ENST00000314191	48694722	48694815	In-frame
ENST00000314191	48798504	48798708	In-frame
ENST00000314191	48800107	48800266	In-frame
ENST00000314191	48817428	48817536	In-frame
ENST00000314191	48845579	48845732	In-frame
ENST00000314191	48868433	48868508	In-frame

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

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
ENST00000314191	13523	4128	48868433	48868508	382	456	108	133
ENST00000314191	13523	4128	48845579	48845732	1681	1833	541	592
ENST00000314191	13523	4128	48817428	48817536	2992	3099	978	1014
ENST00000314191	13523	4128	48800107	48800266	4468	4626	1470	1523
ENST00000314191	13523	4128	48798504	48798708	4627	4830	1523	1591
ENST00000314191	13523	4128	48694722	48694815	11451	11543	3798	3828
ENST00000314191	13523	4128	48690246	48690435	11908	12096	3950	4013

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
ENST00000314191	13523	4128	48868433	48868508	382	456	108	133
ENST00000314191	13523	4128	48845579	48845732	1681	1833	541	592
ENST00000314191	13523	4128	48817428	48817536	2992	3099	978	1014
ENST00000314191	13523	4128	48800107	48800266	4468	4626	1470	1523
ENST00000314191	13523	4128	48798504	48798708	4627	4830	1523	1591
ENST00000314191	13523	4128	48694722	48694815	11451	11543	3798	3828
ENST00000314191	13523	4128	48690246	48690435	11908	12096	3950	4013

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

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

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SNVs in the skipped exons for PRKDC

- 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.

PRKDC_ESCA_exon_skip_489575_psi_boxplot.png
boxplot

PRKDC_ESCA_exon_skip_489594_psi_boxplot.png
boxplot

PRKDC_KIRC_exon_skip_489575_psi_boxplot.png
boxplot

PRKDC_LIHC_exon_skip_489575_psi_boxplot.png
boxplot

PRKDC_LUAD_exon_skip_489574_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-A3A0-01	exon_skip_489571	48689405	48689544	48689466	48689466	Frame_Shift_Del	G	-	p.R4040fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_489571	48689405	48689544	48689518	48689518	Frame_Shift_Del	T	-	p.K4022fs
LIHC	TCGA-DD-A1EG-01	exon_skip_489575	48694723	48694815	48694762	48694762	Frame_Shift_Del	A	-	p.L3816fs
LIHC	TCGA-DD-A39Y-01	exon_skip_489575	48694723	48694815	48694789	48694789	Frame_Shift_Del	T	-	p.N3807fs
LIHC	TCGA-DD-A39Y-01	exon_skip_489590	48767783	48767934	48767862	48767862	Frame_Shift_Del	T	-	p.R2227fs
OV	TCGA-24-1565-01	exon_skip_489590	48767783	48767934	48767881	48767881	Frame_Shift_Del	T	-	p.K2220fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_489591	48777117	48777324	48777257	48777257	Frame_Shift_Del	G	-	p.R1810fs
LIHC	TCGA-DD-A3A0-01	exon_skip_489592	48798505	48798708	48798650	48798650	Frame_Shift_Del	C	-	p.G1543fs
LIHC	TCGA-DD-A1EG-01	exon_skip_489593	48800108	48800266	48800117	48800117	Frame_Shift_Del	A	-	p.F1520fs
LIHC	TCGA-DD-A39Y-01	exon_skip_489593	48800108	48800266	48800117	48800117	Frame_Shift_Del	A	-	p.F1520fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_489593	48800108	48800266	48800117	48800117	Frame_Shift_Del	A	-	p.F1520fs
LIHC	TCGA-DD-A1EG-01	exon_skip_489593	48800108	48800266	48800123	48800123	Frame_Shift_Del	A	-	p.F1518fs
ESCA	TCGA-L5-A43J-01		48805700	48805947	48805866	48805866	Frame_Shift_Del	C	-	p.G1227fs
ESCA	TCGA-L5-A43J-01		48805700	48805947	48805866	48805866	Frame_Shift_Del	C	-	p.G1228fs
LIHC	TCGA-DD-A39Y-01	exon_skip_489599	48811030	48811129	48811075	48811075	Frame_Shift_Del	T	-	p.K1141fs
STAD	TCGA-CG-4465-01	exon_skip_489602	48845580	48845732	48845618	48845618	Frame_Shift_Del	C	-	p.D580fs
LIHC	TCGA-DD-A39Y-01	exon_skip_489604	48868434	48868508	48868460	48868460	Frame_Shift_Del	T	-	p.I125fs
LIHC	TCGA-DD-A3A0-01	exon_skip_489604	48868434	48868508	48868460	48868460	Frame_Shift_Del	T	-	p.I125fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_489604	48868434	48868508	48868460	48868460	Frame_Shift_Del	T	-	p.I125fs
STAD	TCGA-HF-7132-01	exon_skip_489571	48689405	48689544	48689518	48689519	Frame_Shift_Ins	-	T	p.K4022fs
LUAD	TCGA-73-4659-01	exon_skip_489574	48690247	48690435	48690420	48690420	Nonsense_Mutation	C	A	p.E3956*
LUAD	TCGA-73-4659-01	exon_skip_489574	48690247	48690435	48690420	48690420	Nonsense_Mutation	C	A	p.E3957*
KIRC	TCGA-B0-5107-01	exon_skip_489575	48694723	48694815	48694798	48694798	Nonsense_Mutation	C	T	p.W3804*
UCEC	TCGA-AX-A05Z-01	exon_skip_489582	48706851	48707062	48706963	48706963	Nonsense_Mutation	C	A	p.E3519*
LUSC	TCGA-22-5477-01	exon_skip_489585	48711771	48711951	48711773	48711773	Nonsense_Mutation	G	C	p.S3431*
SARC	TCGA-MB-A8JK-01	exon_skip_489587	48739217	48739422	48739410	48739410	Nonsense_Mutation	G	A	p.Q2863*
HNSC	TCGA-BA-5152-01	exon_skip_489591	48777117	48777324	48777319	48777319	Nonsense_Mutation	G	T	p.S1789*
HNSC	TCGA-BA-5152-01	exon_skip_489591	48777117	48777324	48777319	48777319	Nonsense_Mutation	G	T	p.S1790*
LUAD	TCGA-55-8514-01	exon_skip_489592	48798505	48798708	48798590	48798590	Nonsense_Mutation	G	C	p.S1563*
BLCA	TCGA-XF-A9SI-01	exon_skip_489595	48809721	48809854	48809834	48809834	Nonsense_Mutation	G	C	p.S1162*
UCEC	TCGA-AP-A059-01	exon_skip_489599	48811030	48811129	48811031	48811031	Nonsense_Mutation	G	A	p.R1155*
LUAD	TCGA-86-8358-01	exon_skip_489602	48845580	48845732	48845668	48845668	Nonsense_Mutation	A	T	p.L563*
UCEC	TCGA-D1-A103-01	exon_skip_489602	48845580	48845732	48845714	48845714	Nonsense_Mutation	C	A	p.E548*
ACC	TCGA-PK-A5HB-01	exon_skip_489571	48689405	48689544	48689404	48689404	Splice_Site	C	T	.
LUAD	TCGA-38-6178-01	exon_skip_489571	48689405	48689544	48689545	48689545	Splice_Site	C	G	p.N4015_splice
ESCA	TCGA-JY-A938-01	exon_skip_489575	48694723	48694815	48694817	48694817	Splice_Site	T	G	.
ESCA	TCGA-JY-A938-01	exon_skip_489575	48694723	48694815	48694817	48694817	Splice_Site	T	G	e81-2
LIHC	TCGA-EP-A2KA-01	exon_skip_489582	48706851	48707062	48707064	48707064	Splice_Site	T	A	.
LIHC	TCGA-DD-AACP-01	exon_skip_489590	48767783	48767934	48767935	48767935	Splice_Site	C	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-L5-A43J-01
	Cancer type: ESCA
	ESID:
	Skipped exon start: 48805700
	Skipped exon end: 48805947
	Mutation start: 48805866
	Mutation end: 48805866
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G1228fs
	Sample: TCGA-L5-A43J-01
	Cancer type: ESCA
	ESID:
	Skipped exon start: 48805700
	Skipped exon end: 48805947
	Mutation start: 48805866
	Mutation end: 48805866
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G1227fs
exon_skip_131502_ESCA_TCGA-L5-A43J-01.png
exon_skip_142268_ESCA_TCGA-L5-A43J-01.png
exon_skip_30909_ESCA_TCGA-L5-A43J-01.png
exon_skip_30910_ESCA_TCGA-L5-A43J-01.png
exon_skip_30912_ESCA_TCGA-L5-A43J-01.png
exon_skip_319572_ESCA_TCGA-L5-A43J-01.png
exon_skip_325050_ESCA_TCGA-L5-A43J-01.png
exon_skip_342500_ESCA_TCGA-L5-A43J-01.png
exon_skip_343170_ESCA_TCGA-L5-A43J-01.png
exon_skip_344507_ESCA_TCGA-L5-A43J-01.png
exon_skip_390317_ESCA_TCGA-L5-A43J-01.png
exon_skip_390320_ESCA_TCGA-L5-A43J-01.png
exon_skip_390321_ESCA_TCGA-L5-A43J-01.png
exon_skip_445696_ESCA_TCGA-L5-A43J-01.png
exon_skip_467372_ESCA_TCGA-L5-A43J-01.png
exon_skip_489594_ESCA_TCGA-L5-A43J-01.png
exon_skip_500520_ESCA_TCGA-L5-A43J-01.png
exon_skip_504965_ESCA_TCGA-L5-A43J-01.png
exon_skip_71341_ESCA_TCGA-L5-A43J-01.png
	Sample: TCGA-JY-A938-01
	Cancer type: ESCA
	ESID: exon_skip_489575
	Skipped exon start: 48694723
	Skipped exon end: 48694815
	Mutation start: 48694817
	Mutation end: 48694817
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: G
	AAchange: .
	Sample: TCGA-JY-A938-01
	Cancer type: ESCA
	ESID: exon_skip_489575
	Skipped exon start: 48694723
	Skipped exon end: 48694815
	Mutation start: 48694817
	Mutation end: 48694817
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: G
	AAchange: e81-2
exon_skip_112879_ESCA_TCGA-JY-A938-01.png
exon_skip_489575_ESCA_TCGA-JY-A938-01.png
exon_skip_494466_ESCA_TCGA-JY-A938-01.png
	Sample: TCGA-B0-5107-01
	Cancer type: KIRC
	ESID: exon_skip_489575
	Skipped exon start: 48694723
	Skipped exon end: 48694815
	Mutation start: 48694798
	Mutation end: 48694798
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W3804*
exon_skip_489575_KIRC_TCGA-B0-5107-01.png
exon_skip_494778_KIRC_TCGA-B0-5107-01.png
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_489575
	Skipped exon start: 48694723
	Skipped exon end: 48694815
	Mutation start: 48694762
	Mutation end: 48694762
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.L3816fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_489593
	Skipped exon start: 48800108
	Skipped exon end: 48800266
	Mutation start: 48800117
	Mutation end: 48800117
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F1520fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_489593
	Skipped exon start: 48800108
	Skipped exon end: 48800266
	Mutation start: 48800123
	Mutation end: 48800123
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F1518fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
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	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_489575
	Skipped exon start: 48694723
	Skipped exon end: 48694815
	Mutation start: 48694789
	Mutation end: 48694789
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.N3807fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_489590
	Skipped exon start: 48767783
	Skipped exon end: 48767934
	Mutation start: 48767862
	Mutation end: 48767862
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.R2227fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_489593
	Skipped exon start: 48800108
	Skipped exon end: 48800266
	Mutation start: 48800117
	Mutation end: 48800117
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F1520fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_489599
	Skipped exon start: 48811030
	Skipped exon end: 48811129
	Mutation start: 48811075
	Mutation end: 48811075
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.K1141fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_489604
	Skipped exon start: 48868434
	Skipped exon end: 48868508
	Mutation start: 48868460
	Mutation end: 48868460
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.I125fs
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exon_skip_453010_LIHC_TCGA-DD-A39Y-01.png
exon_skip_454760_LIHC_TCGA-DD-A39Y-01.png
exon_skip_456871_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458039_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458091_LIHC_TCGA-DD-A39Y-01.png
exon_skip_45824_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458292_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458727_LIHC_TCGA-DD-A39Y-01.png
exon_skip_459683_LIHC_TCGA-DD-A39Y-01.png
exon_skip_460515_LIHC_TCGA-DD-A39Y-01.png
exon_skip_463936_LIHC_TCGA-DD-A39Y-01.png
exon_skip_464994_LIHC_TCGA-DD-A39Y-01.png
exon_skip_465641_LIHC_TCGA-DD-A39Y-01.png
exon_skip_469364_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470206_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470208_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470470_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470485_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471015_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471018_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471458_LIHC_TCGA-DD-A39Y-01.png
exon_skip_472524_LIHC_TCGA-DD-A39Y-01.png
exon_skip_472955_LIHC_TCGA-DD-A39Y-01.png
exon_skip_475132_LIHC_TCGA-DD-A39Y-01.png
exon_skip_47552_LIHC_TCGA-DD-A39Y-01.png
exon_skip_476535_LIHC_TCGA-DD-A39Y-01.png
exon_skip_477211_LIHC_TCGA-DD-A39Y-01.png
exon_skip_477637_LIHC_TCGA-DD-A39Y-01.png
exon_skip_478117_LIHC_TCGA-DD-A39Y-01.png
exon_skip_47838_LIHC_TCGA-DD-A39Y-01.png
exon_skip_478401_LIHC_TCGA-DD-A39Y-01.png
exon_skip_478926_LIHC_TCGA-DD-A39Y-01.png
exon_skip_483792_LIHC_TCGA-DD-A39Y-01.png
exon_skip_487634_LIHC_TCGA-DD-A39Y-01.png
exon_skip_489575_LIHC_TCGA-DD-A39Y-01.png
exon_skip_490603_LIHC_TCGA-DD-A39Y-01.png
exon_skip_491406_LIHC_TCGA-DD-A39Y-01.png
exon_skip_492075_LIHC_TCGA-DD-A39Y-01.png
exon_skip_492152_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493904_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493918_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493920_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494000_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494030_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494170_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494284_LIHC_TCGA-DD-A39Y-01.png
exon_skip_499522_LIHC_TCGA-DD-A39Y-01.png
exon_skip_503301_LIHC_TCGA-DD-A39Y-01.png
exon_skip_503593_LIHC_TCGA-DD-A39Y-01.png
exon_skip_503665_LIHC_TCGA-DD-A39Y-01.png
exon_skip_504513_LIHC_TCGA-DD-A39Y-01.png
exon_skip_507316_LIHC_TCGA-DD-A39Y-01.png
exon_skip_507513_LIHC_TCGA-DD-A39Y-01.png
exon_skip_50803_LIHC_TCGA-DD-A39Y-01.png
exon_skip_50804_LIHC_TCGA-DD-A39Y-01.png
exon_skip_510119_LIHC_TCGA-DD-A39Y-01.png
exon_skip_512208_LIHC_TCGA-DD-A39Y-01.png
exon_skip_513207_LIHC_TCGA-DD-A39Y-01.png
exon_skip_513240_LIHC_TCGA-DD-A39Y-01.png
exon_skip_5141_LIHC_TCGA-DD-A39Y-01.png
exon_skip_52393_LIHC_TCGA-DD-A39Y-01.png
exon_skip_54542_LIHC_TCGA-DD-A39Y-01.png
exon_skip_55185_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56398_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56399_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56834_LIHC_TCGA-DD-A39Y-01.png
exon_skip_58444_LIHC_TCGA-DD-A39Y-01.png
exon_skip_58452_LIHC_TCGA-DD-A39Y-01.png
exon_skip_5861_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60290_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60294_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60561_LIHC_TCGA-DD-A39Y-01.png
exon_skip_61147_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6331_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6399_LIHC_TCGA-DD-A39Y-01.png
exon_skip_64652_LIHC_TCGA-DD-A39Y-01.png
exon_skip_64657_LIHC_TCGA-DD-A39Y-01.png
exon_skip_65996_LIHC_TCGA-DD-A39Y-01.png
exon_skip_66666_LIHC_TCGA-DD-A39Y-01.png
exon_skip_67549_LIHC_TCGA-DD-A39Y-01.png
exon_skip_68080_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6817_LIHC_TCGA-DD-A39Y-01.png
exon_skip_69250_LIHC_TCGA-DD-A39Y-01.png
exon_skip_70509_LIHC_TCGA-DD-A39Y-01.png
exon_skip_71759_LIHC_TCGA-DD-A39Y-01.png
exon_skip_71774_LIHC_TCGA-DD-A39Y-01.png
exon_skip_73487_LIHC_TCGA-DD-A39Y-01.png
exon_skip_73796_LIHC_TCGA-DD-A39Y-01.png
exon_skip_74728_LIHC_TCGA-DD-A39Y-01.png
exon_skip_75089_LIHC_TCGA-DD-A39Y-01.png
exon_skip_75391_LIHC_TCGA-DD-A39Y-01.png
exon_skip_77962_LIHC_TCGA-DD-A39Y-01.png
exon_skip_78386_LIHC_TCGA-DD-A39Y-01.png
exon_skip_82069_LIHC_TCGA-DD-A39Y-01.png
exon_skip_82070_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83493_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83494_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83512_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83602_LIHC_TCGA-DD-A39Y-01.png
exon_skip_84090_LIHC_TCGA-DD-A39Y-01.png
exon_skip_84528_LIHC_TCGA-DD-A39Y-01.png
exon_skip_87720_LIHC_TCGA-DD-A39Y-01.png
exon_skip_87721_LIHC_TCGA-DD-A39Y-01.png
exon_skip_89597_LIHC_TCGA-DD-A39Y-01.png
exon_skip_93891_LIHC_TCGA-DD-A39Y-01.png
exon_skip_94842_LIHC_TCGA-DD-A39Y-01.png
exon_skip_94844_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96282_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96298_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96557_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96886_LIHC_TCGA-DD-A39Y-01.png
exon_skip_97738_LIHC_TCGA-DD-A39Y-01.png
exon_skip_97739_LIHC_TCGA-DD-A39Y-01.png
exon_skip_9807_LIHC_TCGA-DD-A39Y-01.png
exon_skip_98550_LIHC_TCGA-DD-A39Y-01.png
	Sample: TCGA-73-4659-01
	Cancer type: LUAD
	ESID: exon_skip_489574
	Skipped exon start: 48690247
	Skipped exon end: 48690435
	Mutation start: 48690420
	Mutation end: 48690420
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E3956*
	Sample: TCGA-73-4659-01
	Cancer type: LUAD
	ESID: exon_skip_489574
	Skipped exon start: 48690247
	Skipped exon end: 48690435
	Mutation start: 48690420
	Mutation end: 48690420
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E3957*
exon_skip_489574_LUAD_TCGA-73-4659-01.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
NCIH1436_LUNG	48689405	48689544	48689529	48689529	Frame_Shift_Del	T	-	p.M4019fs
KU1919_URINARY_TRACT	48711771	48711951	48711825	48711825	Frame_Shift_Del	T	-	p.T3414fs
DV90_LUNG	48805700	48805947	48805866	48805866	Frame_Shift_Del	C	-	p.G1228fs
SKUT1_SOFT_TISSUE	48805700	48805947	48805866	48805866	Frame_Shift_Del	C	-	p.G1228fs
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48689405	48689544	48689471	48689471	Missense_Mutation	T	C	p.Y4038C
NCIH2066_LUNG	48690247	48690435	48690279	48690279	Missense_Mutation	C	T	p.V4003M
NCIH1435_LUNG	48694723	48694815	48694772	48694772	Missense_Mutation	C	A	p.D3813Y
SNU1040_LARGE_INTESTINE	48696303	48696370	48696305	48696305	Missense_Mutation	G	A	p.R3724W
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48696303	48696370	48696334	48696334	Missense_Mutation	T	C	p.Y3714C
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48706851	48707062	48706884	48706884	Missense_Mutation	G	A	p.S3545F
HEC251_ENDOMETRIUM	48706851	48707062	48706890	48706890	Missense_Mutation	T	C	p.D3543G
IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48706851	48707062	48706981	48706981	Missense_Mutation	C	T	p.V3513I
ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48711771	48711951	48711794	48711794	Missense_Mutation	C	A	p.R3424L
LU135_LUNG	48711771	48711951	48711795	48711795	Missense_Mutation	G	A	p.R3424C
D502MG_CENTRAL_NERVOUS_SYSTEM	48711771	48711951	48711813	48711813	Missense_Mutation	A	T	p.F3418I
SNU1040_LARGE_INTESTINE	48739217	48739422	48739256	48739256	Missense_Mutation	C	T	p.R2914H
RKO_LARGE_INTESTINE	48739217	48739422	48739325	48739325	Missense_Mutation	A	C	p.L2891R
KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48739217	48739422	48739343	48739343	Missense_Mutation	T	C	p.Q2885R
786O_KIDNEY	48739217	48739422	48739351	48739351	Missense_Mutation	G	C	p.S2882R
SNU175_LARGE_INTESTINE	48767783	48767934	48767823	48767823	Missense_Mutation	G	T	p.L2240I
SNU685_ENDOMETRIUM	48767783	48767934	48767917	48767917	Missense_Mutation	T	G	p.E2208D
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48777117	48777324	48777187	48777187	Missense_Mutation	T	A	p.D1833V
MDAMB436_BREAST	48777117	48777324	48777215	48777215	Missense_Mutation	G	A	p.L1824F
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48777117	48777324	48777223	48777223	Missense_Mutation	C	T	p.R1821H
RL952_ENDOMETRIUM	48777117	48777324	48777242	48777242	Missense_Mutation	G	A	p.R1815C
ISTSL1_LUNG	48777117	48777324	48777262	48777262	Missense_Mutation	T	C	p.D1808G
RCC10RGB_KIDNEY	48798505	48798708	48798530	48798530	Missense_Mutation	T	C	p.Q1583R
MCC13_SKIN	48798505	48798708	48798577	48798577	Missense_Mutation	G	C	p.N1567K
HEC251_ENDOMETRIUM	48798505	48798708	48798592	48798592	Missense_Mutation	G	T	p.F1562L
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48798505	48798708	48798633	48798633	Missense_Mutation	C	T	p.V1549I
59M_OVARY	48798505	48798708	48798662	48798662	Missense_Mutation	G	A	p.T1539M
JHUEM7_ENDOMETRIUM	48798505	48798708	48798702	48798702	Missense_Mutation	G	A	p.R1526C
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48800108	48800266	48800143	48800143	Missense_Mutation	C	T	p.G1512R
CL34_LARGE_INTESTINE	48800108	48800266	48800143	48800143	Missense_Mutation	C	T	p.G1512R
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48800108	48800266	48800146	48800146	Missense_Mutation	T	A	p.S1511C
IGR1_SKIN	48800108	48800266	48800251	48800251	Missense_Mutation	G	A	p.H1476Y
HCC2157_BREAST	48805700	48805947	48805712	48805712	Missense_Mutation	G	A	p.L1278F
HCC2157_MATCHED_NORMAL_TISSUE	48805700	48805947	48805712	48805712	Missense_Mutation	G	A	p.L1278F
EN_ENDOMETRIUM	48805700	48805947	48805763	48805763	Missense_Mutation	C	A	p.A1261S
HCC2450_LUNG	48805700	48805947	48805810	48805810	Missense_Mutation	C	A	p.G1245V
SNU1040_LARGE_INTESTINE	48805700	48805947	48805845	48805845	Missense_Mutation	C	T	p.G1234D
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48809721	48809854	48809777	48809777	Missense_Mutation	G	A	p.T1181I
NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48809721	48809854	48809796	48809796	Missense_Mutation	G	A	p.H1175Y
HCC2998_LARGE_INTESTINE	48809721	48809854	48809816	48809816	Missense_Mutation	A	G	p.L1168P
IPC298_SKIN	48809721	48809854	48809834	48809834	Missense_Mutation	G	A	p.S1162L
NCIH2066_LUNG	48811030	48811129	48811056	48811056	Missense_Mutation	A	T	p.N1146K
NCIH69_LUNG	48811030	48811129	48811056	48811056	Missense_Mutation	A	T	p.N1146K
AN3CA_ENDOMETRIUM	48811030	48811129	48811087	48811087	Missense_Mutation	C	T	p.R1136H
JHUEM7_ENDOMETRIUM	48830837	48830943	48830849	48830849	Missense_Mutation	C	A	p.K838N
TE4_OESOPHAGUS	48830837	48830943	48830869	48830869	Missense_Mutation	T	C	p.K832E
GP2D_LARGE_INTESTINE	48830837	48830943	48830874	48830874	Missense_Mutation	A	G	p.V830A
GP5D_LARGE_INTESTINE	48830837	48830943	48830874	48830874	Missense_Mutation	A	G	p.V830A
MET2B	48830837	48830943	48830881	48830881	Missense_Mutation	T	C	p.K828E
HCC2998_LARGE_INTESTINE	48848292	48848460	48848316	48848316	Missense_Mutation	G	T	p.L475I
CP66EBV_MATCHED_NORMAL_TISSUE	48694723	48694815	48694814	48694814	Splice_Site	A	T	p.L3799I
CP66MEL_SKIN	48694723	48694815	48694814	48694814	Splice_Site	A	T	p.L3799I
LU135_LUNG	48739217	48739422	48739422	48739422	Splice_Site	C	A	p.D2859Y
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48777117	48777324	48777323	48777323	Splice_Site	C	A	p.G1788C
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48777117	48777324	48777323	48777323	Splice_Site	C	A	p.G1788C
BICR31_UPPER_AERODIGESTIVE_TRACT	48811030	48811129	48811031	48811031	Splice_Site	G	A	p.R1155*

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

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

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

Top

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

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RelatedDrugs for PRKDC

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
	P78527	DB00201	Caffeine	DNA-dependent protein kinase catalytic subunit	small molecule	approved

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RelatedDiseases for PRKDC

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PRKDC	C0033578	Prostatic Neoplasms	2	CTD_human
PRKDC	C4014833	IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	2	ORPHANET;UNIPROT
PRKDC	C0001364	Massive Hepatic Necrosis	1	CTD_human
PRKDC	C0007137	Squamous cell carcinoma	1	CTD_human
PRKDC	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
PRKDC	C0019151	Hepatic Encephalopathy	1	CTD_human
PRKDC	C0024115	Lung diseases	1	CTD_human
PRKDC	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human

	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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