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 | 537 | 100 | 426 |
| Samples | 199 | 45 | 151 |
| Peptides | 187 | 39 | 152 |
Function
AAAS · Aladin WD repeat nucleoporin
The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010].
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 171 amino-acid changes on canonical ENST00000209873 · 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 AAAS · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AAAS – 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% |
| Endometrial Carcinoma | 3/42 7% | 12/612 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 0/210 0% | 21/1899 1% |
| Gastric Carcinoma | 0/74 0% | 16/1809 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 6/1390 0% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Colorectal Carcinoma | 6/143 4% | 18/3239 1% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Thyroid Gland Carcinoma | 3/45 7% | 7/1592 0% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Hepatocellular Carcinoma | 0/46 0% | 13/2210 1% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 9/2534 0% |
| Head and Neck Carcinoma | 0/85 0% | 8/1574 1% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Other Solid Cancers | 1/94 1% | 6/1515 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Neuroblastoma | 3/87 3% | 1/1331 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Wilms Tumour | 0/5 0% | 1/474 0% |
| B-Lymphoblastic Leukemia | 5/55 9% | 0/2640 0% |
| Glioma | 1/52 2% | 3/2127 0% |
| Ovarian Carcinoma | 2/109 2% | 0/998 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
Mutation Distribution
Where AAAS is mutated · all tissues, split by cell line vs tissue
How many mutations in AAAS 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 537 mutations in AAAS
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 |
|---|