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 | 970 | 112 | 848 |
| Samples | 183 | 33 | 146 |
| Peptides | 151 | 23 | 131 |
Function
PRKAR1A · Protein kinase cAMP-dependent type I regulatory subunit alpha
cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013].
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.
Gene Properties
Recurrent Mutations
All 144 amino-acid changes on canonical ENST00000589228 · 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 PRKAR1A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PRKAR1A – 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-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Endometrial Carcinoma | 3/42 7% | 11/612 2% |
| Rhabdomyosarcoma | 3/33 9% | 0/171 0% |
| Thyroid Gland Carcinoma | 3/45 7% | 11/1592 1% |
| Colorectal Carcinoma | 2/143 1% | 26/3239 1% |
| Melanoma | 0/210 0% | 17/1899 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Neuroendocrine Tumour | 2/154 1% | 3/577 1% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 6/1390 0% |
| Non-Cancerous | 2/104 2% | 3/830 0% |
| Gastric Carcinoma | 0/74 0% | 10/1809 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Wilms Tumour | 0/5 0% | 2/474 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Prostate Carcinoma | 2/13 15% | 4/2105 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Biliary Tract Carcinoma | 1/54 2% | 1/950 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 3/2550 0% |
| Breast Carcinoma | 1/144 1% | 5/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 4/2534 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
Mutation Distribution
Where PRKAR1A is mutated · all tissues, split by cell line vs tissue
How many mutations in PRKAR1A 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 970 mutations in PRKAR1A
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 |
|---|