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 | 1,602 | 294 | 1,289 |
| Samples | 755 | 150 | 596 |
| Peptides | 553 | 114 | 470 |
Function
ACTN2 · Actinin alpha 2
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013].
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 539 amino-acid changes on canonical ENST00000366578 · 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 ACTN2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ACTN2 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 9/133 7% |
| Non-Small Cell Lung Carcinoma | 25/304 8% | 67/1390 5% |
| Endometrial Carcinoma | 11/42 26% | 22/612 4% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Melanoma | 10/210 5% | 69/1899 4% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 25/810 3% |
| Colorectal Carcinoma | 27/143 19% | 91/3239 3% |
| Gastric Carcinoma | 6/74 8% | 56/1809 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 19/752 3% |
| Other Solid Cancers | 3/94 3% | 33/1515 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Neuroendocrine Tumour | 7/154 5% | 6/577 1% |
| Bladder Carcinoma | 0/58 0% | 16/956 2% |
| Head and Neck Carcinoma | 3/85 4% | 22/1574 1% |
| Ovarian Carcinoma | 4/109 4% | 12/998 1% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 31/2550 1% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Hepatocellular Carcinoma | 0/46 0% | 24/2210 1% |
| Other Sarcomas | 4/69 6% | 4/699 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Esophageal Carcinoma | 0/23 0% | 7/769 1% |
| Breast Carcinoma | 7/144 5% | 21/3264 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Biliary Tract Carcinoma | 1/54 2% | 6/950 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Pancreatic Carcinoma | 3/89 3% | 7/1611 0% |
Mutation Distribution
Where ACTN2 is mutated · all tissues, split by cell line vs tissue
How many mutations in ACTN2 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 1,602 mutations in ACTN2
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 |
|---|