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 | 3,365 | 435 | 2,897 |
| Samples | 796 | 140 | 645 |
| Peptides | 626 | 110 | 531 |
Function
AKAP12 · A-kinase anchoring protein 12
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
4 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 616 amino-acid changes on canonical ENST00000402676 · 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 AKAP12 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AKAP12 – 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 | 10/40 25% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 35/612 6% |
| Chordoma | 0/7 0% | 1/13 8% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Colorectal Carcinoma | 19/143 13% | 118/3239 4% |
| Other Solid Cancers | 1/94 1% | 61/1515 4% |
| Hodgkins Lymphoma | 3/16 19% | 2/122 2% |
| Melanoma | 6/210 3% | 63/1899 3% |
| Gastric Carcinoma | 7/74 9% | 52/1809 3% |
| Non-Small Cell Lung Carcinoma | 24/304 8% | 28/1390 2% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 11/422 3% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 17/810 2% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 49/2550 2% |
| Bladder Carcinoma | 1/58 2% | 19/956 2% |
| Head and Neck Carcinoma | 4/85 5% | 23/1574 1% |
| Germ Cell Tumour | 1/25 4% | 2/169 1% |
| Non-Cancerous | 1/104 1% | 12/830 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 8/752 1% |
| Breast Carcinoma | 4/144 3% | 31/3264 1% |
| Hepatocellular Carcinoma | 3/46 7% | 20/2210 1% |
| Kidney Carcinoma | 5/85 6% | 14/1862 1% |
| Neuroendocrine Tumour | 5/154 3% | 2/577 0% |
| Ewings Sarcoma | 0/63 0% | 3/262 1% |
| Other Sarcomas | 2/69 3% | 5/699 1% |
| Biliary Tract Carcinoma | 0/54 0% | 8/950 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 11/1592 1% |
| Glioma | 2/52 4% | 14/2127 1% |
| Prostate Carcinoma | 4/13 31% | 9/2105 0% |
Mutation Distribution
Where AKAP12 is mutated · all tissues, split by cell line vs tissue
How many mutations in AKAP12 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 3,365 mutations in AKAP12
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 |
|---|