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 | 373 | 59 | 307 |
| Samples | 255 | 49 | 201 |
| Peptides | 202 | 34 | 170 |
Function
ACTA1 · Actin alpha 1, skeletal muscle
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019].
Isoforms & Proteins
2 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 199 amino-acid changes on canonical ENST00000366684 · 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 ACTA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ACTA1 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 10/612 2% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 19/1390 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Colorectal Carcinoma | 10/143 7% | 36/3239 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 10/810 1% |
| Gastric Carcinoma | 0/74 0% | 19/1809 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Other Solid Cancers | 2/94 2% | 11/1515 1% |
| Melanoma | 2/210 1% | 15/1899 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
| Neuroendocrine Tumour | 3/154 2% | 1/577 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 14/2550 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Hepatocellular Carcinoma | 0/46 0% | 11/2210 0% |
| Head and Neck Carcinoma | 3/85 4% | 4/1574 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Breast Carcinoma | 0/144 0% | 5/3264 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
Mutation Distribution
Where ACTA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ACTA1 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 373 mutations in ACTA1
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 |
|---|