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 | 899 | 168 | 710 |
| Samples | 455 | 110 | 336 |
| Peptides | 346 | 75 | 277 |
Function
AP2A1 · Adaptor related protein complex 2 subunit alpha 1
This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
2 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 331 amino-acid changes on canonical ENST00000354293 · 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 AP2A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AP2A1 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| T-Lymphoblastic Leukemia | 5/40 12% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 21/612 3% |
| Other Solid Cancers | 5/94 5% | 38/1515 3% |
| Cervical Carcinoma | 4/35 11% | 8/422 2% |
| Unknown | 1/10 10% | 0/29 0% |
| Gastric Carcinoma | 7/74 9% | 40/1809 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Colorectal Carcinoma | 16/143 11% | 48/3239 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Melanoma | 4/210 2% | 33/1899 2% |
| Germ Cell Tumour | 1/25 4% | 2/169 1% |
| Neuroendocrine Tumour | 9/154 6% | 2/577 0% |
| Non-Small Cell Lung Carcinoma | 12/304 4% | 7/1390 0% |
| Non-Cancerous | 1/104 1% | 9/830 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 8/810 1% |
| Head and Neck Carcinoma | 8/85 9% | 9/1574 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 14/1592 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Other Sarcomas | 1/69 1% | 5/699 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Hepatocellular Carcinoma | 0/46 0% | 14/2210 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Breast Carcinoma | 2/144 1% | 14/3264 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 11/2550 0% |
| Kidney Carcinoma | 0/85 0% | 9/1862 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Glioma | 0/52 0% | 9/2127 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Prostate Carcinoma | 0/13 0% | 8/2105 0% |
Mutation Distribution
Where AP2A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in AP2A1 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 899 mutations in AP2A1
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 |
|---|