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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for PRKD3 |
Gene summary |
Gene information | Gene symbol | PRKD3 | Gene ID | 23683 |
Gene name | protein kinase D3 | |
Synonyms | EPK2|PKC-NU|PKD3|PRKCN|nPKC-NU | |
Cytomap | 2p22.2 | |
Type of gene | protein-coding | |
Description | serine/threonine-protein kinase D3protein kinase C nu typeprotein kinase EPK2 | |
Modification date | 20180523 | |
UniProtAcc | O94806 | |
Context | PubMed: PRKD3 [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 PRKD3 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 PRKD3 |
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 PRKD3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_338334 | 2 | 37477647:37480493:37481346:37481432:37483804:37484072 | 37481346:37481432 | ENSG00000115825.5 | ENST00000379066.1,ENST00000234179.2 |
exon_skip_338337 | 2 | 37483840:37484072:37486725:37486824:37487365:37487527 | 37486725:37486824 | ENSG00000115825.5 | ENST00000379066.1,ENST00000469275.1,ENST00000234179.2 |
exon_skip_338338 | 2 | 37483840:37484072:37486725:37486824:37494572:37494679 | 37486725:37486824 | ENSG00000115825.5 | ENST00000452104.1 |
exon_skip_338341 | 2 | 37486725:37486824:37487365:37487527:37494572:37494679 | 37487365:37487527 | ENSG00000115825.5 | ENST00000379066.1,ENST00000469275.1,ENST00000234179.2 |
exon_skip_338343 | 2 | 37487498:37487527:37494572:37494679:37496757:37496830 | 37494572:37494679 | ENSG00000115825.5 | ENST00000379066.1,ENST00000469275.1,ENST00000234179.2 |
exon_skip_338346 | 2 | 37494572:37494679:37495443:37495515:37496757:37496830 | 37495443:37495515 | ENSG00000115825.5 | ENST00000443977.1 |
exon_skip_338348 | 2 | 37502909:37502987:37505008:37505132:37506888:37507072 | 37505008:37505132 | ENSG00000115825.5 | ENST00000379066.1,ENST00000494667.1,ENST00000234179.2 |
exon_skip_338351 | 2 | 37505008:37505132:37506888:37507072:37509684:37509762 | 37506888:37507072 | ENSG00000115825.5 | ENST00000379066.1,ENST00000494667.1,ENST00000234179.2 |
exon_skip_338355 | 2 | 37513374:37513512:37516498:37516656:37518010:37518105 | 37516498:37516656 | ENSG00000115825.5 | ENST00000379066.1,ENST00000443187.1,ENST00000494667.1,ENST00000234179.2,ENST00000475912.1 |
exon_skip_338361 | 2 | 37518010:37518142:37520275:37520414:37543379:37543531 | 37520275:37520414 | ENSG00000115825.5 | ENST00000379066.1,ENST00000494667.1,ENST00000234179.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PRKD3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_338334 | 2 | 37477647:37480493:37481346:37481432:37483804:37484072 | 37481346:37481432 | ENSG00000115825.5 | ENST00000379066.1,ENST00000234179.2 |
exon_skip_338337 | 2 | 37483840:37484072:37486725:37486824:37487365:37487527 | 37486725:37486824 | ENSG00000115825.5 | ENST00000379066.1,ENST00000234179.2,ENST00000469275.1 |
exon_skip_338338 | 2 | 37483840:37484072:37486725:37486824:37494572:37494679 | 37486725:37486824 | ENSG00000115825.5 | ENST00000452104.1 |
exon_skip_338341 | 2 | 37486725:37486824:37487365:37487527:37494572:37494679 | 37487365:37487527 | ENSG00000115825.5 | ENST00000379066.1,ENST00000234179.2,ENST00000469275.1 |
exon_skip_338343 | 2 | 37487498:37487527:37494572:37494679:37496757:37496830 | 37494572:37494679 | ENSG00000115825.5 | ENST00000379066.1,ENST00000234179.2,ENST00000469275.1 |
exon_skip_338346 | 2 | 37494572:37494679:37495443:37495515:37496757:37496830 | 37495443:37495515 | ENSG00000115825.5 | ENST00000443977.1 |
exon_skip_338348 | 2 | 37502909:37502987:37505008:37505132:37506888:37507072 | 37505008:37505132 | ENSG00000115825.5 | ENST00000379066.1,ENST00000234179.2,ENST00000494667.1 |
exon_skip_338351 | 2 | 37505008:37505132:37506888:37507072:37509684:37509762 | 37506888:37507072 | ENSG00000115825.5 | ENST00000379066.1,ENST00000234179.2,ENST00000494667.1 |
exon_skip_338355 | 2 | 37513374:37513512:37516498:37516656:37518010:37518105 | 37516498:37516656 | ENSG00000115825.5 | ENST00000379066.1,ENST00000234179.2,ENST00000494667.1,ENST00000475912.1,ENST00000443187.1 |
exon_skip_338361 | 2 | 37518010:37518142:37520275:37520414:37543379:37543531 | 37520275:37520414 | ENSG00000115825.5 | ENST00000379066.1,ENST00000234179.2,ENST00000494667.1 |
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 PRKD3 |
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 |
ENST00000234179 | 37481346 | 37481432 | Frame-shift |
ENST00000379066 | 37481346 | 37481432 | Frame-shift |
ENST00000234179 | 37494572 | 37494679 | Frame-shift |
ENST00000379066 | 37494572 | 37494679 | Frame-shift |
ENST00000234179 | 37505008 | 37505132 | Frame-shift |
ENST00000379066 | 37505008 | 37505132 | Frame-shift |
ENST00000234179 | 37506888 | 37507072 | Frame-shift |
ENST00000379066 | 37506888 | 37507072 | Frame-shift |
ENST00000234179 | 37516498 | 37516656 | Frame-shift |
ENST00000379066 | 37516498 | 37516656 | Frame-shift |
ENST00000234179 | 37520275 | 37520414 | Frame-shift |
ENST00000379066 | 37520275 | 37520414 | Frame-shift |
ENST00000234179 | 37486725 | 37486824 | In-frame |
ENST00000379066 | 37486725 | 37486824 | In-frame |
ENST00000234179 | 37487365 | 37487527 | In-frame |
ENST00000379066 | 37487365 | 37487527 | 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 |
ENST00000234179 | 37481346 | 37481432 | Frame-shift |
ENST00000379066 | 37481346 | 37481432 | Frame-shift |
ENST00000234179 | 37494572 | 37494679 | Frame-shift |
ENST00000379066 | 37494572 | 37494679 | Frame-shift |
ENST00000234179 | 37505008 | 37505132 | Frame-shift |
ENST00000379066 | 37505008 | 37505132 | Frame-shift |
ENST00000234179 | 37506888 | 37507072 | Frame-shift |
ENST00000379066 | 37506888 | 37507072 | Frame-shift |
ENST00000234179 | 37516498 | 37516656 | Frame-shift |
ENST00000379066 | 37516498 | 37516656 | Frame-shift |
ENST00000234179 | 37520275 | 37520414 | Frame-shift |
ENST00000379066 | 37520275 | 37520414 | Frame-shift |
ENST00000234179 | 37486725 | 37486824 | In-frame |
ENST00000379066 | 37486725 | 37486824 | In-frame |
ENST00000234179 | 37487365 | 37487527 | In-frame |
ENST00000379066 | 37487365 | 37487527 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PRKD3 |
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 |
ENST00000234179 | 5917 | 890 | 37487365 | 37487527 | 2440 | 2601 | 628 | 682 |
ENST00000379066 | 6128 | 890 | 37487365 | 37487527 | 2648 | 2809 | 628 | 682 |
ENST00000234179 | 5917 | 890 | 37486725 | 37486824 | 2602 | 2700 | 682 | 715 |
ENST00000379066 | 6128 | 890 | 37486725 | 37486824 | 2810 | 2908 | 682 | 715 |
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 |
ENST00000234179 | 5917 | 890 | 37487365 | 37487527 | 2440 | 2601 | 628 | 682 |
ENST00000379066 | 6128 | 890 | 37487365 | 37487527 | 2648 | 2809 | 628 | 682 |
ENST00000234179 | 5917 | 890 | 37486725 | 37486824 | 2602 | 2700 | 682 | 715 |
ENST00000379066 | 6128 | 890 | 37486725 | 37486824 | 2810 | 2908 | 682 | 715 |
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 |
O94806 | 628 | 682 | 612 | 890 | Alternative sequence | ID=VSP_029406;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O94806 | 628 | 682 | 612 | 890 | Alternative sequence | ID=VSP_029406;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O94806 | 628 | 682 | 1 | 890 | Chain | ID=PRO_0000055717;Note=Serine/threonine-protein kinase D3 |
O94806 | 628 | 682 | 1 | 890 | Chain | ID=PRO_0000055717;Note=Serine/threonine-protein kinase D3 |
O94806 | 628 | 682 | 576 | 832 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
O94806 | 628 | 682 | 576 | 832 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
O94806 | 682 | 715 | 699 | 699 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10027 |
O94806 | 682 | 715 | 699 | 699 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10027 |
O94806 | 682 | 715 | 612 | 890 | Alternative sequence | ID=VSP_029406;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O94806 | 682 | 715 | 612 | 890 | Alternative sequence | ID=VSP_029406;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O94806 | 682 | 715 | 1 | 890 | Chain | ID=PRO_0000055717;Note=Serine/threonine-protein kinase D3 |
O94806 | 682 | 715 | 1 | 890 | Chain | ID=PRO_0000055717;Note=Serine/threonine-protein kinase D3 |
O94806 | 682 | 715 | 576 | 832 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
O94806 | 682 | 715 | 576 | 832 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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 |
O94806 | 628 | 682 | 612 | 890 | Alternative sequence | ID=VSP_029406;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O94806 | 628 | 682 | 612 | 890 | Alternative sequence | ID=VSP_029406;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O94806 | 628 | 682 | 1 | 890 | Chain | ID=PRO_0000055717;Note=Serine/threonine-protein kinase D3 |
O94806 | 628 | 682 | 1 | 890 | Chain | ID=PRO_0000055717;Note=Serine/threonine-protein kinase D3 |
O94806 | 628 | 682 | 576 | 832 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
O94806 | 628 | 682 | 576 | 832 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
O94806 | 682 | 715 | 699 | 699 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10027 |
O94806 | 682 | 715 | 699 | 699 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10027 |
O94806 | 682 | 715 | 612 | 890 | Alternative sequence | ID=VSP_029406;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O94806 | 682 | 715 | 612 | 890 | Alternative sequence | ID=VSP_029406;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O94806 | 682 | 715 | 1 | 890 | Chain | ID=PRO_0000055717;Note=Serine/threonine-protein kinase D3 |
O94806 | 682 | 715 | 1 | 890 | Chain | ID=PRO_0000055717;Note=Serine/threonine-protein kinase D3 |
O94806 | 682 | 715 | 576 | 832 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
O94806 | 682 | 715 | 576 | 832 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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SNVs in the skipped exons for PRKD3 |
- 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_338341 | 37487366 | 37487527 | 37487407 | 37487407 | Frame_Shift_Del | T | - | p.S669fs |
LIHC | TCGA-DD-A3A1-01 | exon_skip_338341 | 37487366 | 37487527 | 37487502 | 37487502 | Frame_Shift_Del | T | - | p.N637fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_338343 | 37494573 | 37494679 | 37494618 | 37494618 | Frame_Shift_Del | G | - | p.P613fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_338351 | 37506889 | 37507072 | 37506994 | 37506994 | Frame_Shift_Del | C | - | p.G356fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_338355 | 37516499 | 37516656 | 37516513 | 37516513 | Frame_Shift_Del | G | - | p.L235fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_338361 | 37520276 | 37520414 | 37520378 | 37520378 | Frame_Shift_Del | T | - | p.I109fs |
LUAD | TCGA-55-A48X-01 | exon_skip_338348 | 37505009 | 37505132 | 37505047 | 37505047 | Nonsense_Mutation | C | A | p.E420* |
GBM | TCGA-06-0122-01 | exon_skip_338355 | 37516499 | 37516656 | 37516578 | 37516578 | Nonsense_Mutation | G | C | p.S213* |
HNSC | TCGA-CV-7414-01 | exon_skip_338361 | 37520276 | 37520414 | 37520323 | 37520323 | Nonsense_Mutation | G | C | p.S127* |
BLCA | TCGA-GD-A2C5-01 | exon_skip_338341 | 37487366 | 37487527 | 37487528 | 37487528 | Splice_Site | C | G | p.N629_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 |
MFE319_ENDOMETRIUM | 37506889 | 37507072 | 37506994 | 37506994 | Frame_Shift_Del | C | - | p.G356fs |
JHH1_LIVER | 37481347 | 37481432 | 37481381 | 37481381 | Missense_Mutation | C | T | p.S822N |
COLO704_OVARY | 37481347 | 37481432 | 37481388 | 37481388 | Missense_Mutation | G | A | p.R820C |
NCIH2803_PLEURA | 37487366 | 37487527 | 37487403 | 37487403 | Missense_Mutation | C | T | p.R670Q |
IPC298_SKIN | 37487366 | 37487527 | 37487489 | 37487489 | Missense_Mutation | C | T | p.M641I |
SAS_UPPER_AERODIGESTIVE_TRACT | 37494573 | 37494679 | 37494601 | 37494601 | Missense_Mutation | T | G | p.Q619P |
LS411N_LARGE_INTESTINE | 37505009 | 37505132 | 37505083 | 37505083 | Missense_Mutation | T | C | p.K408E |
KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37505009 | 37505132 | 37505097 | 37505097 | Missense_Mutation | A | T | p.V403D |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37505009 | 37505132 | 37505098 | 37505098 | Missense_Mutation | C | T | p.V403I |
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37505009 | 37505132 | 37505116 | 37505116 | Missense_Mutation | T | C | p.N397D |
HCT15_LARGE_INTESTINE | 37506889 | 37507072 | 37506998 | 37506998 | Missense_Mutation | G | A | p.R355W |
HEC108_ENDOMETRIUM | 37506889 | 37507072 | 37507010 | 37507010 | Missense_Mutation | T | C | p.S351G |
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37506889 | 37507072 | 37507013 | 37507013 | Missense_Mutation | T | G | p.N350H |
SNU1196_BILIARY_TRACT | 37506889 | 37507072 | 37507015 | 37507015 | Missense_Mutation | A | C | p.I349R |
T47D_BREAST | 37506889 | 37507072 | 37507052 | 37507052 | Missense_Mutation | C | G | p.D337H |
JHH5_LIVER | 37520276 | 37520414 | 37520365 | 37520365 | Missense_Mutation | C | T | p.R113H |
KP2_PANCREAS | 37520276 | 37520414 | 37520365 | 37520365 | Missense_Mutation | C | T | p.R113H |
ES4_BONE | 37520276 | 37520414 | 37520411 | 37520411 | Missense_Mutation | G | A | p.P98S |
HEC108_ENDOMETRIUM | 37486726 | 37486824 | 37486823 | 37486823 | Splice_Site | A | G | p.I683T |
639V_URINARY_TRACT | 37494573 | 37494679 | 37494679 | 37494679 | Splice_Site | C | T | p.G593E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRKD3 |
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 PRKD3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRKD3 |
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RelatedDrugs for PRKD3 |
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 PRKD3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
PRKD3 | C0043094 | Weight Gain | 1 | CTD_human |