Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 1,875 | 250 | 1,615 |
| Samples | 544 | 101 | 439 |
| Peptides | 487 | 69 | 443 |
Function
PRKG1 · Protein kinase cGMP-dependent 1
Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011].
Isoforms & Proteins
6 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000373980 | Q13976-2 | 588 | 424 |
| ENST00000401604 | Q13976 | 487 | 380 |
| ENST00000645324 | A0A2R8Y507* | 226 | 179 |
| ENST00000373976 | B1ALS0* | 224 | 177 |
| ENST00000643582 | A0A2R8YE50* | 175 | 143 |
| ENST00000643704 | A0A2R8YH74* | 175 | 143 |
Gene Properties
Recurrent Mutations
All 424 amino-acid changes on canonical ENST00000373980 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in PRKG1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PRKG1 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Cell Non-Hodgkins Lymphoma | 5/26 19% | 0/0 0% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 19/612 3% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Melanoma | 7/210 3% | 68/1899 4% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 24/810 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 33/1390 2% |
| Other Solid Cancers | 1/94 1% | 38/1515 3% |
| Gastric Carcinoma | 0/74 0% | 35/1809 2% |
| Colorectal Carcinoma | 16/143 11% | 39/3239 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 9/752 1% |
| Bladder Carcinoma | 1/58 2% | 13/956 1% |
| Ovarian Carcinoma | 6/109 6% | 7/998 1% |
| Head and Neck Carcinoma | 3/85 4% | 16/1574 1% |
| Hepatocellular Carcinoma | 0/46 0% | 26/2210 1% |
| Neuroendocrine Tumour | 5/154 3% | 2/577 0% |
| Biliary Tract Carcinoma | 1/54 2% | 8/950 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Other Sarcomas | 2/69 3% | 4/699 1% |
| Esophageal Carcinoma | 1/23 4% | 5/769 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 18/2550 1% |
| Breast Carcinoma | 5/144 3% | 19/3264 1% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 13/2534 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
Mutation Distribution
Where PRKG1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PRKG1 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 1,875 mutations in PRKG1
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|