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 | 334 | 71 | 259 |
| Samples | 307 | 67 | 236 |
| Peptides | 223 | 50 | 182 |
Function
AIRE · Autoimmune regulator
This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000291582 | O43918 | 334 | 223 |
Gene Properties
Recurrent Mutations
All 223 amino-acid changes on canonical ENST00000291582 · 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 AIRE · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AIRE – 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 | 7/40 18% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 12/612 2% |
| Melanoma | 4/210 2% | 41/1899 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 25/1592 2% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 16/1390 1% |
| Plasma Cell Myeloma | 4/44 9% | 0/305 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 9/810 1% |
| Cervical Carcinoma | 1/35 3% | 4/422 1% |
| Other Solid Cancers | 1/94 1% | 16/1515 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Ewings Sarcoma | 1/63 2% | 2/262 1% |
| Colorectal Carcinoma | 9/143 6% | 21/3239 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Non-Cancerous | 1/104 1% | 7/830 1% |
| Gastric Carcinoma | 2/74 3% | 13/1809 1% |
| Other Sarcomas | 3/69 4% | 2/699 0% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 14/2550 1% |
| Glioma | 3/52 6% | 8/2127 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Head and Neck Carcinoma | 1/85 1% | 6/1574 0% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
Mutation Distribution
Where AIRE is mutated · all tissues, split by cell line vs tissue
How many mutations in AIRE 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 334 mutations in AIRE
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 |
|---|