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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for PRKCQ |
 Gene summary |
| Gene information | Gene symbol | PRKCQ | Gene ID | 5588 |
| Gene name | protein kinase C theta | |
| Synonyms | PRKCT|nPKC-theta | |
| Cytomap | 10p15.1 | |
| Type of gene | protein-coding | |
| Description | protein kinase C theta type | |
| Modification date | 20180523 | |
| UniProtAcc | Q04759 | |
| Context | PubMed: PRKCQ [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 |
| PRKCQ | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 16356855 |
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Exon skipping events across known transcript of Ensembl for PRKCQ 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 PRKCQ |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PRKCQ |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_47638 | 10 | 6469982:6470324:6472771:6472900:6483854:6484043 | 6472771:6472900 | ENSG00000065675.10 | ENST00000539722.1,ENST00000263125.5 |
| exon_skip_47639 | 10 | 6472771:6472900:6483854:6484043:6498635:6498774 | 6483854:6484043 | ENSG00000065675.10 | ENST00000539722.1,ENST00000263125.5 |
| exon_skip_47640 | 10 | 6498635:6498774:6504264:6504327:6506274:6506366 | 6504264:6504327 | ENSG00000065675.10 | ENST00000539722.1,ENST00000263125.5,ENST00000397176.2 |
| exon_skip_47642 | 10 | 6540357:6540520:6549397:6549458:6552956:6553154 | 6549397:6549458 | ENSG00000065675.10 | ENST00000263125.5,ENST00000397176.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PRKCQ |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_47638 | 10 | 6469982:6470324:6472771:6472900:6483854:6484043 | 6472771:6472900 | ENSG00000065675.10 | ENST00000263125.5,ENST00000539722.1 |
| exon_skip_47639 | 10 | 6472771:6472900:6483854:6484043:6498635:6498774 | 6483854:6484043 | ENSG00000065675.10 | ENST00000263125.5,ENST00000539722.1 |
| exon_skip_47640 | 10 | 6498635:6498774:6504264:6504327:6506274:6506366 | 6504264:6504327 | ENSG00000065675.10 | ENST00000263125.5,ENST00000397176.2,ENST00000539722.1 |
| exon_skip_47642 | 10 | 6540357:6540520:6549397:6549458:6552956:6553154 | 6549397:6549458 | ENSG00000065675.10 | ENST00000263125.5,ENST00000397176.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PRKCQ |
| 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 |
| ENST00000263125 | 6549397 | 6549458 | Frame-shift |
| ENST00000263125 | 6472771 | 6472900 | In-frame |
| ENST00000263125 | 6483854 | 6484043 | In-frame |
| ENST00000263125 | 6504264 | 6504327 | 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 |
| ENST00000263125 | 6549397 | 6549458 | Frame-shift |
| ENST00000263125 | 6472771 | 6472900 | In-frame |
| ENST00000263125 | 6483854 | 6484043 | In-frame |
| ENST00000263125 | 6504264 | 6504327 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PRKCQ |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000263125 | 3302 | 706 | 6504264 | 6504327 | 1546 | 1608 | 482 | 502 |
| ENST00000263125 | 3302 | 706 | 6483854 | 6484043 | 1748 | 1936 | 549 | 612 |
| ENST00000263125 | 3302 | 706 | 6472771 | 6472900 | 1937 | 2065 | 612 | 655 |
| 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 |
| ENST00000263125 | 3302 | 706 | 6504264 | 6504327 | 1546 | 1608 | 482 | 502 |
| ENST00000263125 | 3302 | 706 | 6483854 | 6484043 | 1748 | 1936 | 549 | 612 |
| ENST00000263125 | 3302 | 706 | 6472771 | 6472900 | 1937 | 2065 | 612 | 655 |
| 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 |
| Q04759 | 482 | 502 | 1 | 706 | Chain | ID=PRO_0000055708;Note=Protein kinase C theta type |
| Q04759 | 482 | 502 | 380 | 634 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q04759 | 482 | 502 | 478 | 497 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 549 | 612 | 550 | 612 | Alternative sequence | ID=VSP_017294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q04759 | 549 | 612 | 1 | 706 | Chain | ID=PRO_0000055708;Note=Protein kinase C theta type |
| Q04759 | 549 | 612 | 380 | 634 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q04759 | 549 | 612 | 548 | 551 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 549 | 612 | 559 | 574 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 549 | 612 | 584 | 593 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 549 | 612 | 604 | 613 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 612 | 655 | 550 | 612 | Alternative sequence | ID=VSP_017294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q04759 | 612 | 655 | 1 | 706 | Chain | ID=PRO_0000055708;Note=Protein kinase C theta type |
| Q04759 | 612 | 655 | 380 | 634 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q04759 | 612 | 655 | 635 | 706 | Domain | Note=AGC-kinase C-terminal |
| Q04759 | 612 | 655 | 604 | 613 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 612 | 655 | 618 | 620 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 612 | 655 | 628 | 630 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 612 | 655 | 632 | 634 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 612 | 655 | 639 | 643 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| 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 |
| Q04759 | 482 | 502 | 1 | 706 | Chain | ID=PRO_0000055708;Note=Protein kinase C theta type |
| Q04759 | 482 | 502 | 380 | 634 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q04759 | 482 | 502 | 478 | 497 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 549 | 612 | 550 | 612 | Alternative sequence | ID=VSP_017294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q04759 | 549 | 612 | 1 | 706 | Chain | ID=PRO_0000055708;Note=Protein kinase C theta type |
| Q04759 | 549 | 612 | 380 | 634 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q04759 | 549 | 612 | 548 | 551 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 549 | 612 | 559 | 574 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 549 | 612 | 584 | 593 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 549 | 612 | 604 | 613 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 612 | 655 | 550 | 612 | Alternative sequence | ID=VSP_017294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q04759 | 612 | 655 | 1 | 706 | Chain | ID=PRO_0000055708;Note=Protein kinase C theta type |
| Q04759 | 612 | 655 | 380 | 634 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q04759 | 612 | 655 | 635 | 706 | Domain | Note=AGC-kinase C-terminal |
| Q04759 | 612 | 655 | 604 | 613 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 612 | 655 | 618 | 620 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 612 | 655 | 628 | 630 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 612 | 655 | 632 | 634 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
| Q04759 | 612 | 655 | 639 | 643 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJD |
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SNVs in the skipped exons for PRKCQ |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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-A3A0-01 | exon_skip_47642 | 6549398 | 6549458 | 6549439 | 6549439 | Frame_Shift_Del | C | - | p.G113fs |
| SKCM | TCGA-EE-A2MJ-06 | exon_skip_47638 | 6472772 | 6472900 | 6472820 | 6472820 | Nonsense_Mutation | C | T | p.W639* |
| OV | TCGA-25-2393-01 | exon_skip_47640 | 6504265 | 6504327 | 6504278 | 6504278 | Nonsense_Mutation | C | A | p.G532* |
| LGG | TCGA-DU-6392-01 | exon_skip_47642 | 6549398 | 6549458 | 6549437 | 6549437 | Nonsense_Mutation | G | A | p.R114* |
| STAD | TCGA-IN-7806-01 | exon_skip_47638 | 6472772 | 6472900 | 6472771 | 6472771 | Splice_Site | C | A | . |
| STAD | TCGA-IN-7806-01 | exon_skip_47638 | 6472772 | 6472900 | 6472771 | 6472771 | Splice_Site | C | A | p.V655_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 |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6472772 | 6472900 | 6472786 | 6472786 | Missense_Mutation | A | G | p.F651L |
| MEWO_SKIN | 6472772 | 6472900 | 6472834 | 6472834 | Missense_Mutation | G | A | p.R635W |
| ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6483855 | 6484043 | 6483907 | 6483907 | Missense_Mutation | T | C | p.N595S |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 6483855 | 6484043 | 6483907 | 6483907 | Missense_Mutation | T | C | p.N595S |
| NBTU110_AUTONOMIC_GANGLIA | 6483855 | 6484043 | 6483907 | 6483907 | Missense_Mutation | T | C | p.N595S |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6483855 | 6484043 | 6483916 | 6483916 | Missense_Mutation | C | T | p.R592H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6483855 | 6484043 | 6483917 | 6483917 | Missense_Mutation | G | A | p.R592C |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6504265 | 6504327 | 6504279 | 6504279 | Missense_Mutation | T | G | p.K498N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRKCQ |
| 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 PRKCQ |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRKCQ |
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RelatedDrugs for PRKCQ |
| 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 |
| Q04759 | DB12010 | Fostamatinib | Protein kinase C theta type | small molecule | approved|investigational |
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RelatedDiseases for PRKCQ |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PRKCQ | C0003873 | Rheumatoid Arthritis | 3 | CTD_human |
| PRKCQ | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human |
| PRKCQ | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
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