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 | 898 | 100 | 793 |
| Samples | 362 | 61 | 299 |
| Peptides | 291 | 41 | 252 |
Function
AAK1 · AP2 associated kinase 1
This gene encodes a member of the SNF1 subfamily of serine/threonine protein kinases. Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. The encoded protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. This kinase has been shown to play an important role in regulating the clathrin-mediated endocytosis of the rabies virus, facilitating infection. Inhibitors of this kinase are being studied as candidate therapeutics to disrupt the entry of viruses, including SARS-CoV-2, into target cells. It is also involved in positive regulation of Notch pathway signaling in mammals. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Aug 2020].
Isoforms & Proteins
3 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 279 amino-acid changes on canonical ENST00000409085 · 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 AAK1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AAK1 – 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 | 2/40 5% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Endometrial Carcinoma | 7/42 17% | 19/612 3% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Unknown | 0/10 0% | 1/29 3% |
| Melanoma | 5/210 2% | 37/1899 2% |
| Other Solid Cancers | 5/94 5% | 21/1515 1% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 16/1390 1% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Colorectal Carcinoma | 4/143 3% | 34/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 7/810 1% |
| Gastric Carcinoma | 3/74 4% | 12/1809 1% |
| Hepatocellular Carcinoma | 0/46 0% | 18/2210 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Other Sarcomas | 2/69 3% | 4/699 1% |
| Ovarian Carcinoma | 3/109 3% | 5/998 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Prostate Carcinoma | 4/13 31% | 10/2105 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 14/2550 1% |
| Glioma | 0/52 0% | 12/2127 1% |
| Head and Neck Carcinoma | 1/85 1% | 8/1574 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Breast Carcinoma | 0/144 0% | 16/3264 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
Mutation Distribution
Where AAK1 is mutated · all tissues, split by cell line vs tissue
How many mutations in AAK1 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 898 mutations in AAK1
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 |
|---|