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 | 3,382 | 409 | 2,918 |
| Samples | 486 | 93 | 384 |
| Peptides | 445 | 65 | 377 |
Function
ATXN2 · Ataxin 2
This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016].
Isoforms & Proteins
10 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000550104 | Q99700 | 487 | 379 |
| ENST00000643669 | A0A2R8Y5A6* | 446 | 351 |
| ENST00000608853 | V9GY86* | 445 | 350 |
| ENST00000542287 | F8VQP2* | 421 | 338 |
| ENST00000535949 | Q99700-5 | 404 | 323 |
| ENST00000616825 | Q99700-5 | 404 | 323 |
| ENST00000644883 | A0A2R8Y7P6* | 361 | 284 |
| ENST00000647305 | A0A2R8YDM9* | 361 | 284 |
| ENST00000673436 | A0A5F9ZI57* | 52 | 50 |
| ENST00000642389 | A0A2R8Y7E6* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 379 amino-acid changes on canonical ENST00000550104 · 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 ATXN2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ATXN2 – 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 | 8/40 20% | 0/0 0% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Chordoma | 1/7 14% | 0/13 0% |
| Endometrial Carcinoma | 5/42 12% | 26/612 4% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Melanoma | 9/210 4% | 49/1899 3% |
| Cervical Carcinoma | 1/35 3% | 11/422 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Other Solid Cancers | 0/94 0% | 33/1515 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Bladder Carcinoma | 3/58 5% | 16/956 2% |
| Colorectal Carcinoma | 15/143 10% | 45/3239 1% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 18/1390 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Gastric Carcinoma | 0/74 0% | 24/1809 1% |
| Hepatocellular Carcinoma | 1/46 2% | 24/2210 1% |
| Other Sarcomas | 2/69 3% | 6/699 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Head and Neck Carcinoma | 3/85 4% | 12/1574 1% |
| Ovarian Carcinoma | 3/109 3% | 7/998 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Glioma | 0/52 0% | 17/2127 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 17/2550 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 5/810 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 11/1592 1% |
| Breast Carcinoma | 4/144 3% | 17/3264 1% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
| Neuroendocrine Tumour | 1/154 1% | 3/577 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
Mutation Distribution
Where ATXN2 is mutated · all tissues, split by cell line vs tissue
How many mutations in ATXN2 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 3,382 mutations in ATXN2
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 |
|---|