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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 PRKCA |
Gene summary |
Gene information | Gene symbol | PRKCA | Gene ID | 5578 |
Gene name | protein kinase C alpha | |
Synonyms | AAG6|PKC-alpha|PKCA|PRKACA | |
Cytomap | 17q24.2 | |
Type of gene | protein-coding | |
Description | protein kinase C alpha typePKC-Aaging-associated gene 6 | |
Modification date | 20180523 | |
UniProtAcc | P17252 | |
Context | PubMed: PRKCA [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 |
PRKCA | GO:0006468 | protein phosphorylation | 10770950 |
PRKCA | GO:0035408 | histone H3-T6 phosphorylation | 20228790 |
PRKCA | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 20011604 |
PRKCA | GO:0090330 | regulation of platelet aggregation | 12724315 |
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Exon skipping events across known transcript of Ensembl for PRKCA 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 PRKCA |
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 PRKCA |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_155378 | 17 | 64302213:64302245:64492318:64492401:64637472:64637584 | 64492318:64492401 | ENSG00000154229.7 | ENST00000578063.1,ENST00000413366.3 |
exon_skip_155380 | 17 | 64492318:64492401:64550636:64550697:64637472:64637584 | 64550636:64550697 | ENSG00000154229.7 | ENST00000284384.6 |
exon_skip_155381 | 17 | 64492318:64492401:64637472:64637584:64641500:64641629 | 64637472:64637584 | ENSG00000154229.7 | ENST00000578063.1,ENST00000413366.3 |
exon_skip_155386 | 17 | 64685068:64685165:64692544:64692605:64699444:64699982 | 64692544:64692605 | ENSG00000154229.7 | ENST00000578063.1 |
exon_skip_155387 | 17 | 64685068:64685165:64728805:64728943:64731606:64731780 | 64728805:64728943 | ENSG00000154229.7 | ENST00000284384.6,ENST00000413366.3 |
exon_skip_155389 | 17 | 64728805:64728943:64731606:64731780:64734881:64734973 | 64731606:64731780 | ENSG00000154229.7 | ENST00000284384.6,ENST00000413366.3 |
exon_skip_155391 | 17 | 64770104:64770185:64782984:64783092:64784956:64785097 | 64782984:64783092 | ENSG00000154229.7 | ENST00000413366.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PRKCA |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_155378 | 17 | 64302213:64302245:64492318:64492401:64637472:64637584 | 64492318:64492401 | ENSG00000154229.7 | ENST00000578063.1,ENST00000413366.3 |
exon_skip_155380 | 17 | 64492318:64492401:64550636:64550697:64637472:64637584 | 64550636:64550697 | ENSG00000154229.7 | ENST00000284384.6 |
exon_skip_155381 | 17 | 64492318:64492401:64637472:64637584:64641500:64641629 | 64637472:64637584 | ENSG00000154229.7 | ENST00000578063.1,ENST00000413366.3 |
exon_skip_155386 | 17 | 64685068:64685165:64692544:64692605:64699444:64699982 | 64692544:64692605 | ENSG00000154229.7 | ENST00000578063.1 |
exon_skip_155387 | 17 | 64685068:64685165:64728805:64728943:64731606:64731780 | 64728805:64728943 | ENSG00000154229.7 | ENST00000413366.3,ENST00000284384.6 |
exon_skip_155389 | 17 | 64728805:64728943:64731606:64731780:64734881:64734973 | 64731606:64731780 | ENSG00000154229.7 | ENST00000413366.3,ENST00000284384.6 |
exon_skip_155391 | 17 | 64770104:64770185:64782984:64783092:64784956:64785097 | 64782984:64783092 | ENSG00000154229.7 | ENST00000413366.3 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PRKCA |
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 |
ENST00000413366 | 64492318 | 64492401 | Frame-shift |
ENST00000413366 | 64637472 | 64637584 | Frame-shift |
ENST00000413366 | 64728805 | 64728943 | In-frame |
ENST00000413366 | 64731606 | 64731780 | In-frame |
ENST00000413366 | 64782984 | 64783092 | 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 |
ENST00000413366 | 64492318 | 64492401 | Frame-shift |
ENST00000413366 | 64637472 | 64637584 | Frame-shift |
ENST00000413366 | 64728805 | 64728943 | In-frame |
ENST00000413366 | 64731606 | 64731780 | In-frame |
ENST00000413366 | 64782984 | 64783092 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PRKCA |
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 |
ENST00000413366 | 8768 | 672 | 64728805 | 64728943 | 945 | 1082 | 306 | 352 |
ENST00000413366 | 8768 | 672 | 64731606 | 64731780 | 1083 | 1256 | 352 | 410 |
ENST00000413366 | 8768 | 672 | 64782984 | 64783092 | 1632 | 1739 | 535 | 571 |
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 |
ENST00000413366 | 8768 | 672 | 64728805 | 64728943 | 945 | 1082 | 306 | 352 |
ENST00000413366 | 8768 | 672 | 64731606 | 64731780 | 1083 | 1256 | 352 | 410 |
ENST00000413366 | 8768 | 672 | 64782984 | 64783092 | 1632 | 1739 | 535 | 571 |
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 |
P17252 | 306 | 352 | 339 | 350 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 306 | 352 | 352 | 361 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 306 | 352 | 2 | 672 | Chain | ID=PRO_0000055679;Note=Protein kinase C alpha type |
P17252 | 306 | 352 | 339 | 597 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 306 | 352 | 336 | 338 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 306 | 352 | 319 | 319 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05696 |
P17252 | 306 | 352 | 345 | 353 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 352 | 410 | 352 | 361 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 364 | 371 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 403 | 408 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 410 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 368 | 368 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 352 | 410 | 2 | 672 | Chain | ID=PRO_0000055679;Note=Protein kinase C alpha type |
P17252 | 352 | 410 | 339 | 597 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 352 | 410 | 372 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 381 | 392 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 345 | 353 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 535 | 571 | 2 | 672 | Chain | ID=PRO_0000055679;Note=Protein kinase C alpha type |
P17252 | 535 | 571 | 339 | 597 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 535 | 571 | 543 | 552 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 535 | 571 | 563 | 572 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 535 | 571 | 568 | 568 | Natural variant | ID=VAR_050558;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:19054851,ECO:0000269|PubMed:2336401,ECO:0000269|Ref.4;Dbxref=dbSNP:rs6504459,PMID:15489334,PMID:19054851,PMID:233 |
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 |
P17252 | 306 | 352 | 339 | 350 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 306 | 352 | 352 | 361 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 306 | 352 | 2 | 672 | Chain | ID=PRO_0000055679;Note=Protein kinase C alpha type |
P17252 | 306 | 352 | 339 | 597 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 306 | 352 | 336 | 338 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 306 | 352 | 319 | 319 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05696 |
P17252 | 306 | 352 | 345 | 353 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 352 | 410 | 352 | 361 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 364 | 371 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 403 | 408 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 410 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 368 | 368 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 352 | 410 | 2 | 672 | Chain | ID=PRO_0000055679;Note=Protein kinase C alpha type |
P17252 | 352 | 410 | 339 | 597 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 352 | 410 | 372 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 381 | 392 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 352 | 410 | 345 | 353 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 535 | 571 | 2 | 672 | Chain | ID=PRO_0000055679;Note=Protein kinase C alpha type |
P17252 | 535 | 571 | 339 | 597 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P17252 | 535 | 571 | 543 | 552 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 535 | 571 | 563 | 572 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA4 |
P17252 | 535 | 571 | 568 | 568 | Natural variant | ID=VAR_050558;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:19054851,ECO:0000269|PubMed:2336401,ECO:0000269|Ref.4;Dbxref=dbSNP:rs6504459,PMID:15489334,PMID:19054851,PMID:233 |
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SNVs in the skipped exons for PRKCA |
- 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-A3A0-01 | exon_skip_155378 | 64492319 | 64492401 | 64492362 | 64492362 | Frame_Shift_Del | T | - | p.T83fs |
COAD | TCGA-G4-6588-01 | exon_skip_155381 | 64637473 | 64637584 | 64637475 | 64637475 | Frame_Shift_Del | C | - | p.D97fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_155387 | 64728806 | 64728943 | 64728820 | 64728820 | Frame_Shift_Del | C | - | p.G311fs |
KIRP | TCGA-UZ-A9PS-01 | exon_skip_155387 | 64728806 | 64728943 | 64728827 | 64728827 | Frame_Shift_Del | G | - | p.A313fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_155387 | 64728806 | 64728943 | 64728928 | 64728928 | Frame_Shift_Del | G | - | p.K347fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_155389 | 64731607 | 64731780 | 64731739 | 64731739 | Frame_Shift_Del | C | - | p.P398fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_155391 | 64782985 | 64783092 | 64782991 | 64782991 | Frame_Shift_Del | T | - | p.F538fs |
- 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 |
SNU1040_LARGE_INTESTINE | 64492319 | 64492401 | 64492333 | 64492333 | Missense_Mutation | G | A | p.V74I |
HCC1171_LUNG | 64728806 | 64728943 | 64728818 | 64728818 | Missense_Mutation | G | T | p.G311C |
OVCAR5_OVARY | 64728806 | 64728943 | 64728903 | 64728903 | Missense_Mutation | T | A | p.F339Y |
UCH2_BONE | 64731607 | 64731780 | 64731619 | 64731619 | Missense_Mutation | G | A | p.D357N |
MRKNU1_BREAST | 64731607 | 64731780 | 64731625 | 64731625 | Missense_Mutation | A | G | p.K359E |
SNGM_ENDOMETRIUM | 64731607 | 64731780 | 64731758 | 64731758 | Missense_Mutation | T | A | p.L403Q |
EN_ENDOMETRIUM | 64731607 | 64731780 | 64731763 | 64731763 | Missense_Mutation | T | C | p.S405P |
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64731607 | 64731780 | 64731776 | 64731776 | Missense_Mutation | C | T | p.T409I |
MEWO_SKIN | 64782985 | 64783092 | 64783003 | 64783003 | Missense_Mutation | G | A | p.D542N |
NCIH1876_LUNG | 64731607 | 64731780 | 64731780 | 64731780 | Splice_Site | G | - | p.V410fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRKCA |
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 PRKCA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRKCA |
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RelatedDrugs for PRKCA |
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 |
P17252 | DB00675 | Tamoxifen | Protein kinase C alpha type | small molecule | approved | |
P17252 | DB05013 | Ingenol mebutate | Protein kinase C alpha type | small molecule | approved | |
P17252 | DB06595 | Midostaurin | Protein kinase C alpha type | small molecule | approved|investigational |
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RelatedDiseases for PRKCA |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
PRKCA | C0036341 | Schizophrenia | 2 | PSYGENET |
PRKCA | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
PRKCA | C0018800 | Cardiomegaly | 1 | CTD_human |
PRKCA | C0021841 | Intestinal Neoplasms | 1 | CTD_human |
PRKCA | C0032617 | Polyuria | 1 | CTD_human |
PRKCA | C0033975 | Psychotic Disorders | 1 | PSYGENET |
PRKCA | C0036337 | Schizoaffective Disorder | 1 | PSYGENET |
PRKCA | C0162283 | Nephrogenic Diabetes Insipidus | 1 | CTD_human |
PRKCA | C0349204 | Nonorganic psychosis | 1 | PSYGENET |