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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 PRKG1 |
 Gene summary |
| Gene information | Gene symbol | PRKG1 | Gene ID | 5592 |
| Gene name | protein kinase cGMP-dependent 1 | |
| Synonyms | AAT8|PKG|PKG1|PRKG1B|PRKGR1B|cGK|cGK 1|cGK1|cGKI|cGKI-BETA|cGKI-alpha | |
| Cytomap | 10q11.23-q21.1 | |
| Type of gene | protein-coding | |
| Description | cGMP-dependent protein kinase 1protein kinase, cGMP-dependent, regulatory, type I, betaprotein kinase, cGMP-dependent, type I | |
| Modification date | 20180524 | |
| UniProtAcc | Q13976 | |
| Context | PubMed: PRKG1 [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 |
| PRKG1 | GO:0006468 | protein phosphorylation | 15905169 |
| PRKG1 | GO:1904706 | negative regulation of vascular smooth muscle cell proliferation | 25447536 |
| PRKG1 | GO:1904753 | negative regulation of vascular associated smooth muscle cell migration | 25447536 |
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Exon skipping events across known transcript of Ensembl for PRKG1 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 PRKG1 |
| 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 PRKG1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_41641 | 10 | 53822296:53822391:53841356:53841417:53893599:53893665 | 53841356:53841417 | ENSG00000185532.10 | ENST00000373975.2 |
| exon_skip_41642 | 10 | 54048485:54048608:54048690:54048753:54049983:54050050 | 54048690:54048753 | ENSG00000185532.10 | ENST00000373980.4,ENST00000373975.2,ENST00000401604.2,ENST00000373985.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PRKG1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_41641 | 10 | 53822296:53822391:53841356:53841417:53893599:53893665 | 53841356:53841417 | ENSG00000185532.10 | ENST00000373975.2 |
| exon_skip_41642 | 10 | 54048485:54048608:54048690:54048753:54049983:54050050 | 54048690:54048753 | ENSG00000185532.10 | ENST00000401604.2,ENST00000373985.1,ENST00000373980.4,ENST00000373975.2 |
| 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 PRKG1 |
| 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 |
| ENST00000373985 | 54048690 | 54048753 | In-frame |
| ENST00000401604 | 54048690 | 54048753 | 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 |
| ENST00000373985 | 54048690 | 54048753 | In-frame |
| ENST00000401604 | 54048690 | 54048753 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PRKG1 |
| 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 |
| ENST00000373985 | 6504 | 671 | 54048690 | 54048753 | 1809 | 1871 | 584 | 604 |
| ENST00000401604 | 3841 | 671 | 54048690 | 54048753 | 1982 | 2044 | 596 | 616 |
| 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 |
| ENST00000373985 | 6504 | 671 | 54048690 | 54048753 | 1809 | 1871 | 584 | 604 |
| ENST00000401604 | 3841 | 671 | 54048690 | 54048753 | 1982 | 2044 | 596 | 616 |
| 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 |
| Q13976 | 584 | 604 | 2 | 671 | Chain | ID=PRO_0000086115;Note=cGMP-dependent protein kinase 1 |
| Q13976 | 584 | 604 | 360 | 619 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q13976 | 584 | 604 | 585 | 594 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C0T |
| Q13976 | 584 | 604 | 599 | 601 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C0T |
| Q13976 | 596 | 616 | 2 | 671 | Chain | ID=PRO_0000086115;Note=cGMP-dependent protein kinase 1 |
| Q13976 | 596 | 616 | 360 | 619 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q13976 | 596 | 616 | 599 | 601 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C0T |
| Q13976 | 596 | 616 | 611 | 614 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C0T |
| Q13976 | 596 | 616 | 607 | 610 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C0T |
| 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 |
| Q13976 | 584 | 604 | 2 | 671 | Chain | ID=PRO_0000086115;Note=cGMP-dependent protein kinase 1 |
| Q13976 | 584 | 604 | 360 | 619 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q13976 | 584 | 604 | 585 | 594 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C0T |
| Q13976 | 584 | 604 | 599 | 601 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C0T |
| Q13976 | 596 | 616 | 2 | 671 | Chain | ID=PRO_0000086115;Note=cGMP-dependent protein kinase 1 |
| Q13976 | 596 | 616 | 360 | 619 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q13976 | 596 | 616 | 599 | 601 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C0T |
| Q13976 | 596 | 616 | 611 | 614 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C0T |
| Q13976 | 596 | 616 | 607 | 610 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C0T |
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SNVs in the skipped exons for PRKG1 |
| - 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 |
| ESCA | TCGA-L5-A8NF-01 | exon_skip_41641 | 53841357 | 53841417 | 53841384 | 53841384 | Frame_Shift_Del | A | - | p.N5fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_41642 | 54048691 | 54048753 | 54048722 | 54048722 | Frame_Shift_Del | A | - | p.K622fs |
| SARC | TCGA-HS-A5N8-01 | exon_skip_41641 | 53841357 | 53841417 | 53841418 | 53841418 | Splice_Site | G | T | e1+1 |
| READ | TCGA-F5-6814-01 | exon_skip_41642 | 54048691 | 54048753 | 54048755 | 54048755 | Splice_Site | T | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-L5-A8NF-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_41641 | |
| Skipped exon start: 53841357 | |
| Skipped exon end: 53841417 | |
| Mutation start: 53841384 | |
| Mutation end: 53841384 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.N5fs | |
exon_skip_41641_ESCA_TCGA-L5-A8NF-01.png | |
exon_skip_75737_ESCA_TCGA-L5-A8NF-01.png | |
exon_skip_75738_ESCA_TCGA-L5-A8NF-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 |
| DEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54048691 | 54048753 | 54048726 | 54048726 | Missense_Mutation | A | T | p.N608I |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54048691 | 54048753 | 54048728 | 54048728 | Missense_Mutation | G | A | p.G609R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRKG1 |
| 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 PRKG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRKG1 |
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RelatedDrugs for PRKG1 |
| 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 PRKG1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PRKG1 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
| PRKG1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| PRKG1 | C0036920 | Sezary Syndrome | 1 | CTD_human |
| PRKG1 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| PRKG1 | C3809513 | AORTIC ANEURYSM, FAMILIAL THORACIC 8 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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