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 | 1,746 | 147 | 1,570 |
| Samples | 790 | 103 | 675 |
| Peptides | 493 | 70 | 433 |
Function
ATXN1 · Ataxin 1
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000436367 | P54253 | 840 | 408 |
| ENST00000244769 | P54253 | 778 | 383 |
| ENST00000642969 | A0A2R8YCF3* | 128 | 83 |
Gene Properties
Recurrent Mutations
All 408 amino-acid changes on canonical ENST00000436367 · 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 ATXN1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ATXN1 – 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 | 5/40 12% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Melanoma | 11/210 5% | 92/1899 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Colorectal Carcinoma | 10/143 7% | 122/3239 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 15/612 2% |
| Rhabdomyosarcoma | 0/33 0% | 6/171 4% |
| Gastric Carcinoma | 0/74 0% | 50/1809 3% |
| Other Solid Cancers | 3/94 3% | 39/1515 3% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 30/1390 2% |
| Germ Cell Tumour | 4/25 16% | 0/169 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 15/810 2% |
| Bladder Carcinoma | 0/58 0% | 19/956 2% |
| Cervical Carcinoma | 0/35 0% | 8/422 2% |
| Plasma Cell Myeloma | 2/44 5% | 4/305 1% |
| Kidney Carcinoma | 2/85 2% | 28/1862 2% |
| Non-Cancerous | 0/104 0% | 14/830 2% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 35/2550 1% |
| Neuroendocrine Tumour | 4/154 3% | 6/577 1% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 34/2534 1% |
| Esophageal Carcinoma | 0/23 0% | 10/769 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 20/1592 1% |
| Other Sarcomas | 3/69 4% | 5/699 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Hepatocellular Carcinoma | 2/46 4% | 19/2210 1% |
| Ovarian Carcinoma | 5/109 5% | 5/998 0% |
| Head and Neck Carcinoma | 4/85 5% | 11/1574 1% |
| Mesothelioma | 1/62 2% | 1/165 1% |
Mutation Distribution
Where ATXN1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ATXN1 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 1,746 mutations in ATXN1
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 |
|---|