ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PKD1

Gene summary

Gene information	Gene symbol	PKD1
	Gene ID	5310
	Gene name	polycystin 1, transient receptor potential channel interacting
	Synonyms	PBP\|PC1\|Pc-1\|TRPP1
	Cytomap	16p13.3
	Type of gene	protein-coding
	Description	polycystin-1autosomal dominant polycystic kidney disease 1 proteinpolycystic kidney disease 1 (autosomal dominant)polycystic kidney disease-associated proteintransient receptor potential cation channel, subfamily P, member 1
	Modification date	20180522
	UniProtAcc	P98161
	Context	PubMed: PKD1 [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
PKD1	GO:0031659	positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle	16311606
PKD1	GO:0045944	positive regulation of transcription by RNA polymerase II	16311606
PKD1	GO:0048754	branching morphogenesis of an epithelial tube	12482949
PKD1	GO:0061136	regulation of proteasomal protein catabolic process	23001567

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Exon skipping events across known transcript of Ensembl for PKD1 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 PKD1

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 PKD1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_140899	16	2140765:2140809:2140884:2141175:2141781:2141855	2140884:2141175	ENSG00000008710.13	ENST00000564313.1
exon_skip_140900	16	2140985:2141175:2141423:2141598:2141781:2141855	2141423:2141598	ENSG00000008710.13	ENST00000487932.1,ENST00000561668.1,ENST00000423118.1,ENST00000262304.4
exon_skip_140902	16	2142047:2142189:2142480:2142593:2142954:2143094	2142480:2142593	ENSG00000008710.13	ENST00000487932.1,ENST00000423118.1,ENST00000262304.4
exon_skip_140904	16	2142047:2142189:2142480:2142593:2143544:2143739	2142480:2142593	ENSG00000008710.13	ENST00000562425.1
exon_skip_140929	16	2142496:2142593:2142954:2143094:2143544:2143739	2142954:2143094	ENSG00000008710.13	ENST00000487932.1,ENST00000423118.1,ENST00000262304.4
exon_skip_140945	16	2143670:2143739:2143811:2144014:2144092:2144147	2143811:2144014	ENSG00000008710.13	ENST00000472659.1,ENST00000487932.1,ENST00000423118.1,ENST00000262304.4
exon_skip_140950	16	2143811:2144014:2144092:2144211:2147148:2147242	2144092:2144211	ENSG00000008710.13	ENST00000487932.1,ENST00000423118.1,ENST00000262304.4
exon_skip_140955	16	2147148:2147242:2147319:2147504:2147728:2147778	2147319:2147504	ENSG00000008710.13	ENST00000487932.1,ENST00000423118.1,ENST00000262304.4
exon_skip_140957	16	2147868:2147985:2149644:2149771:2149861:2149894	2149644:2149771	ENSG00000008710.13	ENST00000415938.3,ENST00000562297.1,ENST00000486339.2,ENST00000483731.1,ENST00000487932.1,ENST00000567946.1,ENST00000423118.1,ENST00000496574.2,ENST00000262304.4
exon_skip_140958	16	2150396:2150567:2152061:2152257:2152381:2152634	2152061:2152257	ENSG00000008710.13	ENST00000471603.2,ENST00000415938.3,ENST00000480227.1,ENST00000562297.1,ENST00000486339.2,ENST00000483731.1,ENST00000487932.1,ENST00000567946.1,ENST00000423118.1,ENST00000496574.2,ENST00000262304.4
exon_skip_140962	16	2152399:2152634:2152814:2152971:2153266:2153391	2152814:2152971	ENSG00000008710.13	ENST00000480227.1,ENST00000562297.1,ENST00000486339.2,ENST00000487932.1,ENST00000423118.1,ENST00000496574.2,ENST00000262304.4
exon_skip_140968	16	2156941:2156949:2157883:2158033:2158252:2158359	2157883:2158033	ENSG00000008710.13	ENST00000487932.1,ENST00000423118.1,ENST00000488185.2,ENST00000262304.4
exon_skip_140971	16	2156941:2156949:2161816:2161872:2162340:2162474	2161816:2161872	ENSG00000008710.13	ENST00000483024.1
exon_skip_140973	16	2162788:2162964:2163041:2163060:2163161:2163281	2163041:2163060	ENSG00000008710.13	ENST00000565639.2
exon_skip_140979	16	2166592:2166645:2166833:2167017:2167489:2167673	2166833:2167017	ENSG00000008710.13	ENST00000568591.1
exon_skip_140980	16	2166592:2166645:2166833:2167054:2167489:2167673	2166833:2167054	ENSG00000008710.13	ENST00000423118.1,ENST00000262304.4
exon_skip_140981	16	2166592:2166645:2167489:2167673:2167791:2167960	2167489:2167673	ENSG00000008710.13	ENST00000570150.1
exon_skip_140982	16	2168676:2168846:2169114:2169186:2169307:2169379	2169114:2169186	ENSG00000008710.13	ENST00000423118.1,ENST00000262304.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PKD1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_140899	16	2140765:2140809:2140884:2141175:2141781:2141855	2140884:2141175	ENSG00000008710.13	ENST00000564313.1
exon_skip_140900	16	2140985:2141175:2141423:2141598:2141781:2141855	2141423:2141598	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1,ENST00000561668.1,ENST00000487932.1
exon_skip_140902	16	2142047:2142189:2142480:2142593:2142954:2143094	2142480:2142593	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1,ENST00000487932.1
exon_skip_140904	16	2142047:2142189:2142480:2142593:2143544:2143739	2142480:2142593	ENSG00000008710.13	ENST00000562425.1
exon_skip_140929	16	2142496:2142593:2142954:2143094:2143544:2143739	2142954:2143094	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1,ENST00000487932.1
exon_skip_140945	16	2143670:2143739:2143811:2144014:2144092:2144147	2143811:2144014	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1,ENST00000487932.1,ENST00000472659.1
exon_skip_140950	16	2143811:2144014:2144092:2144211:2147148:2147242	2144092:2144211	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1,ENST00000487932.1
exon_skip_140955	16	2147148:2147242:2147319:2147504:2147728:2147778	2147319:2147504	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1,ENST00000487932.1
exon_skip_140957	16	2147868:2147985:2149644:2149771:2149861:2149894	2149644:2149771	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1,ENST00000487932.1,ENST00000562297.1,ENST00000567946.1,ENST00000486339.2,ENST00000415938.3,ENST00000483731.1,ENST00000496574.2
exon_skip_140958	16	2150396:2150567:2152061:2152257:2152381:2152634	2152061:2152257	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1,ENST00000487932.1,ENST00000562297.1,ENST00000567946.1,ENST00000486339.2,ENST00000415938.3,ENST00000483731.1,ENST00000496574.2,ENST00000471603.2,ENST00000480227.1
exon_skip_140962	16	2152399:2152634:2152814:2152971:2153266:2153391	2152814:2152971	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1,ENST00000487932.1,ENST00000562297.1,ENST00000486339.2,ENST00000496574.2,ENST00000480227.1
exon_skip_140968	16	2156941:2156949:2157883:2158033:2158252:2158359	2157883:2158033	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1,ENST00000487932.1,ENST00000488185.2
exon_skip_140971	16	2156941:2156949:2161816:2161872:2162340:2162474	2161816:2161872	ENSG00000008710.13	ENST00000483024.1
exon_skip_140973	16	2162788:2162964:2163041:2163060:2163161:2163281	2163041:2163060	ENSG00000008710.13	ENST00000565639.2
exon_skip_140979	16	2166592:2166645:2166833:2167017:2167489:2167673	2166833:2167017	ENSG00000008710.13	ENST00000568591.1
exon_skip_140980	16	2166592:2166645:2166833:2167054:2167489:2167673	2166833:2167054	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1
exon_skip_140981	16	2166592:2166645:2167489:2167673:2167791:2167960	2167489:2167673	ENSG00000008710.13	ENST00000570150.1
exon_skip_140982	16	2168676:2168846:2169114:2169186:2169307:2169379	2169114:2169186	ENSG00000008710.13	ENST00000262304.4,ENST00000423118.1

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 PKD1

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
ENST00000262304	2141423	2141598	Frame-shift
ENST00000262304	2142480	2142593	Frame-shift
ENST00000262304	2142954	2143094	Frame-shift
ENST00000262304	2143811	2144014	Frame-shift
ENST00000262304	2144092	2144211	Frame-shift
ENST00000262304	2147319	2147504	Frame-shift
ENST00000262304	2149644	2149771	Frame-shift
ENST00000262304	2152061	2152257	Frame-shift
ENST00000262304	2152814	2152971	Frame-shift
ENST00000262304	2166833	2167054	Frame-shift
ENST00000262304	2157883	2158033	In-frame
ENST00000262304	2169114	2169186	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
ENST00000262304	2141423	2141598	Frame-shift
ENST00000262304	2142480	2142593	Frame-shift
ENST00000262304	2142954	2143094	Frame-shift
ENST00000262304	2143811	2144014	Frame-shift
ENST00000262304	2144092	2144211	Frame-shift
ENST00000262304	2147319	2147504	Frame-shift
ENST00000262304	2149644	2149771	Frame-shift
ENST00000262304	2152061	2152257	Frame-shift
ENST00000262304	2152814	2152971	Frame-shift
ENST00000262304	2166833	2167054	Frame-shift
ENST00000262304	2157883	2158033	In-frame
ENST00000262304	2169114	2169186	In-frame

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Infer the effects of exon skipping event on protein functional features for PKD1

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
ENST00000262304	14155	4303	2169114	2169186	497	568	96	119
ENST00000262304	14155	4303	2157883	2158033	7125	7274	2305	2355

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
ENST00000262304	14155	4303	2169114	2169186	497	568	96	119
ENST00000262304	14155	4303	2157883	2158033	7125	7274	2305	2355

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
P98161	96	119	24	4303	Chain	ID=PRO_0000024298;Note=Polycystin-1
P98161	96	119	116	116	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98161	96	119	97	97	Natural variant	ID=VAR_064380;Note=In PKD1. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21115670;Dbxref=PMID:21115670
P98161	96	119	99	99	Natural variant	ID=VAR_058762;Note=In PKD1%3B unknown pathological significance. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18837007;Dbxref=PMID:18837007
P98161	96	119	92	113	Repeat	Note=LRR 2
P98161	96	119	24	3074	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98161	2305	2355	24	4303	Chain	ID=PRO_0000024298;Note=Polycystin-1
P98161	2305	2355	2146	2833	Domain	Note=REJ;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00511
P98161	2305	2355	2353	2353	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98161	2305	2355	2329	2329	Natural variant	ID=VAR_011039;Note=In PKD1%3B unknown pathological significance. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10854095;Dbxref=dbSNP:rs200433577,PMID:10854095
P98161	2305	2355	2336	2336	Natural variant	ID=VAR_011040;Note=In PKD1. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11115377;Dbxref=PMID:11115377
P98161	2305	2355	24	3074	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
P98161	96	119	24	4303	Chain	ID=PRO_0000024298;Note=Polycystin-1
P98161	96	119	116	116	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98161	96	119	97	97	Natural variant	ID=VAR_064380;Note=In PKD1. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21115670;Dbxref=PMID:21115670
P98161	96	119	99	99	Natural variant	ID=VAR_058762;Note=In PKD1%3B unknown pathological significance. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18837007;Dbxref=PMID:18837007
P98161	96	119	92	113	Repeat	Note=LRR 2
P98161	96	119	24	3074	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98161	2305	2355	24	4303	Chain	ID=PRO_0000024298;Note=Polycystin-1
P98161	2305	2355	2146	2833	Domain	Note=REJ;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00511
P98161	2305	2355	2353	2353	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98161	2305	2355	2329	2329	Natural variant	ID=VAR_011039;Note=In PKD1%3B unknown pathological significance. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10854095;Dbxref=dbSNP:rs200433577,PMID:10854095
P98161	2305	2355	2336	2336	Natural variant	ID=VAR_011040;Note=In PKD1. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11115377;Dbxref=PMID:11115377
P98161	2305	2355	24	3074	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for PKD1

- 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-A39Y-01	exon_skip_140904 exon_skip_140902	2142481	2142593	2142515	2142515	Frame_Shift_Del	C	-	p.G3745fs
STAD	TCGA-MX-A5UJ-01	exon_skip_140929	2142955	2143094	2143071	2143071	Frame_Shift_Del	A	-	p.F3680fs
STAD	TCGA-MX-A5UJ-01	exon_skip_140929	2142955	2143094	2143071	2143071	Frame_Shift_Del	A	-	p.L3681fs
COAD	TCGA-AZ-4615-01	exon_skip_140945	2143812	2144014	2143888	2143888	Frame_Shift_Del	G	-	p.P3582fs
LIHC	TCGA-DD-A39Y-01	exon_skip_140950	2144093	2144211	2144208	2144208	Frame_Shift_Del	G	-	p.S3502fs
HNSC	TCGA-CV-7432-01	exon_skip_140945	2143812	2144014	2143887	2143888	Frame_Shift_Ins	-	G	p.P3582fs
HNSC	TCGA-CV-7432-01	exon_skip_140945	2143812	2144014	2143887	2143888	Frame_Shift_Ins	-	G	p.R3582fs
ESCA	TCGA-L5-A8NF-01	exon_skip_140950	2144093	2144211	2144123	2144123	Nonsense_Mutation	G	A	p.Q3530*
ESCA	TCGA-L5-A8NF-01	exon_skip_140950	2144093	2144211	2144123	2144123	Nonsense_Mutation	G	A	p.Q3530X
LUAD	TCGA-86-7701-01	exon_skip_140955	2147320	2147504	2147377	2147377	Nonsense_Mutation	C	A	p.E3450*
STAD	TCGA-VQ-A8P2-01	exon_skip_140962	2152815	2152971	2152892	2152892	Nonsense_Mutation	G	T	p.C2957*
STAD	TCGA-VQ-A8P2-01	exon_skip_140962	2152815	2152971	2152892	2152892	Nonsense_Mutation	G	T	p.C2957X
SKCM	TCGA-W3-A825-06	exon_skip_140981	2167490	2167673	2167558	2167558	Nonsense_Mutation	C	T	p.W439*
SKCM	TCGA-W3-A825-06	exon_skip_140981	2167490	2167673	2167559	2167559	Nonsense_Mutation	C	T	p.W439*
HNSC	TCGA-F7-A624-01	exon_skip_140899	2140885	2141175	2140883	2140886	Splice_Site	ACCT	-	p.I4001_splice
STAD	TCGA-BR-8372-01	exon_skip_140945	2143812	2144014	2144016	2144016	Splice_Site	T	C	.
STAD	TCGA-BR-8372-01	exon_skip_140945	2143812	2144014	2144016	2144016	Splice_Site	T	C	p.G3540_splice
HNSC	TCGA-CR-7402-01	exon_skip_140980	2166834	2167054	2167056	2167056	Splice_Site	T	C	p.R462_splice

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

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
SNUC2A_LARGE_INTESTINE	2142481	2142593	2142515	2142515	Frame_Shift_Del	C	-	p.G3745fs
SNUC2B_LARGE_INTESTINE	2142481	2142593	2142515	2142515	Frame_Shift_Del	C	-	p.G3745fs
2313287_STOMACH	2140885	2141175	2140916	2140916	Missense_Mutation	G	A	p.A3991V
NCIH1618_LUNG	2140885	2141175	2140971	2140971	Missense_Mutation	G	A	p.R3973C
PANC0813_PANCREAS	2140885	2141175	2141008	2141008	Missense_Mutation	G	C	p.D3960E
SNUC2A_LARGE_INTESTINE	2140885	2141175	2141048	2141048	Missense_Mutation	G	A	p.A3947V
KM12_LARGE_INTESTINE	2140885	2141175	2141048	2141048	Missense_Mutation	G	A	p.A3947V
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2140885	2141175	2141075	2141075	Missense_Mutation	C	T	p.R3938Q
RERFGC1B_STOMACH	2140885	2141175	2141088	2141088	Missense_Mutation	C	T	p.G3934R
HEC1B_ENDOMETRIUM	2140885	2141175	2141093	2141093	Missense_Mutation	C	A	p.R3932L
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2140885	2141175	2141103	2141103	Missense_Mutation	G	A	p.R3929C
A172_CENTRAL_NERVOUS_SYSTEM	2140885	2141175	2141117	2141117	Missense_Mutation	C	T	p.R3924K
HEC59_ENDOMETRIUM	2140885	2141175	2141130	2141130	Missense_Mutation	G	A	p.R3920C
HT1376_URINARY_TRACT	2140885	2141175	2141136	2141136	Missense_Mutation	C	T	p.E3918K
HS934T_FIBROBLAST	2140885	2141175	2141154	2141154	Missense_Mutation	C	T	p.V3912M
REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2141424	2141598	2141435	2141435	Missense_Mutation	G	C	p.L3901V
COV644_OVARY	2141424	2141598	2141441	2141441	Missense_Mutation	G	C	p.L3899V
KM12_LARGE_INTESTINE	2141424	2141598	2141524	2141524	Missense_Mutation	A	C	p.L3871R
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2141424	2141598	2141570	2141570	Missense_Mutation	G	A	p.R3856C
CL34_LARGE_INTESTINE	2142955	2143094	2143019	2143019	Missense_Mutation	C	T	p.A3698T
DOK_UPPER_AERODIGESTIVE_TRACT	2142955	2143094	2143084	2143084	Missense_Mutation	A	C	p.V3676G
MS1_LUNG	2143812	2144014	2143885	2143885	Missense_Mutation	C	T	p.G3583D
SNU1066_UPPER_AERODIGESTIVE_TRACT	2143812	2144014	2143915	2143915	Missense_Mutation	G	A	p.S3573L
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2143812	2144014	2143996	2143996	Missense_Mutation	C	T	p.R3546Q
EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2143812	2144014	2143996	2143996	Missense_Mutation	C	T	p.R3546Q
SNU1_STOMACH	2143812	2144014	2144005	2144005	Missense_Mutation	T	C	p.E3543G
HCC2814_LUNG	2144093	2144211	2144184	2144184	Missense_Mutation	C	G	p.E3509D
SBC5_LUNG	2144093	2144211	2144204	2144204	Missense_Mutation	T	C	p.T3503A
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2147320	2147504	2147383	2147383	Missense_Mutation	G	A	p.P3448S
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2147320	2147504	2147383	2147383	Missense_Mutation	G	A	p.P3448S
ES2_OVARY	2147320	2147504	2147395	2147395	Missense_Mutation	G	A	p.H3444Y
LB373EBV_MATCHED_NORMAL_TISSUE	2147320	2147504	2147445	2147445	Missense_Mutation	G	T	p.P3427Q
LB373MELD_SKIN	2147320	2147504	2147445	2147445	Missense_Mutation	G	T	p.P3427Q
MCC26_SKIN	2147320	2147504	2147461	2147462	Missense_Mutation	CC	TT	p.D3422N
MCC26_SKIN	2147320	2147504	2147461	2147461	Missense_Mutation	C	T	p.D3422N
MERO25_LUNG	2147320	2147504	2147476	2147476	Missense_Mutation	T	C	p.T3417A
LAN2_AUTONOMIC_GANGLIA	2147320	2147504	2147493	2147493	Missense_Mutation	C	G	p.W3411S
H4_CENTRAL_NERVOUS_SYSTEM	2149645	2149771	2149649	2149649	Missense_Mutation	C	T	p.S3349N
SNU1040_LARGE_INTESTINE	2149645	2149771	2149653	2149653	Missense_Mutation	G	A	p.R3348W
HEC265_ENDOMETRIUM	2149645	2149771	2149653	2149653	Missense_Mutation	G	A	p.R3348W
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2149645	2149771	2149655	2149655	Missense_Mutation	G	T	p.S3347Y
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2149645	2149771	2149745	2149745	Missense_Mutation	G	A	p.P3317L
HEC108_ENDOMETRIUM	2152062	2152257	2152098	2152098	Missense_Mutation	C	T	p.E3121K
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2152062	2152257	2152137	2152137	Missense_Mutation	C	T	p.A3108T
HEC251_ENDOMETRIUM	2152062	2152257	2152209	2152209	Missense_Mutation	A	G	p.C3084R
BFTC909_KIDNEY	2152062	2152257	2152230	2152230	Missense_Mutation	C	T	p.V3077I
MRKNU1_BREAST	2152062	2152257	2152237	2152237	Missense_Mutation	G	C	p.N3074K
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2152815	2152971	2152924	2152924	Missense_Mutation	G	T	p.H2947N
HEC108_ENDOMETRIUM	2152815	2152971	2152926	2152926	Missense_Mutation	A	G	p.L2946P
PK59_PANCREAS	2152815	2152971	2152951	2152951	Missense_Mutation	G	C	p.P2938A
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2157884	2158033	2157996	2157996	Missense_Mutation	C	T	p.R2318H
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2161817	2161872	2161840	2161840	Missense_Mutation	C	T	p.A1110T
SKN_ENDOMETRIUM	2161817	2161872	2161864	2161864	Missense_Mutation	G	C	p.L1102V
LC1F_LUNG	2166834	2167017	2166839	2166839	Missense_Mutation	G	A	p.P534L
LC1F_LUNG	2166834	2167054	2166839	2166839	Missense_Mutation	G	A	p.P534L
LC1SQ_LUNG	2166834	2167017	2166839	2166839	Missense_Mutation	G	A	p.P534L
LC1SQ_LUNG	2166834	2167054	2166839	2166839	Missense_Mutation	G	A	p.P534L
HEC59_ENDOMETRIUM	2166834	2167017	2166887	2166887	Missense_Mutation	T	C	p.N518S
HEC59_ENDOMETRIUM	2166834	2167054	2166887	2166887	Missense_Mutation	T	C	p.N518S
PANC0213_PANCREAS	2166834	2167017	2166933	2166933	Missense_Mutation	C	T	p.A503T
PANC0213_PANCREAS	2166834	2167054	2166933	2166933	Missense_Mutation	C	T	p.A503T
NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2166834	2167054	2167052	2167052	Missense_Mutation	C	T	p.S463N
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2167490	2167673	2167531	2167531	Missense_Mutation	G	T	p.D448E
LNCAPCLONEFGC_PROSTATE	2167490	2167673	2167596	2167596	Missense_Mutation	C	T	p.A427T
KE39_STOMACH	2167490	2167673	2167646	2167646	Missense_Mutation	G	A	p.T410M
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	2140885	2141175	2140999	2140999	Nonsense_Mutation	C	T	p.W3963*
HEC1_ENDOMETRIUM	2169115	2169186	2169116	2169116	Splice_Site	T	C	p.I120V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PKD1

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 PKD1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PKD1

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RelatedDrugs for PKD1

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 PKD1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PKD1	C3149841	POLYCYSTIC KIDNEY DISEASE 1	26	UNIPROT
PKD1	C0085413	Polycystic Kidney, Autosomal Dominant	5	CTD_human
PKD1	C0022680	Polycystic Kidney Diseases	2	CTD_human;HPO
PKD1	C0010709	Cyst	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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