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 | 538 | 77 | 455 |
| Samples | 193 | 39 | 151 |
| Peptides | 162 | 24 | 137 |
Function
ACTL6A · Actin like 6A
This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008].
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 157 amino-acid changes on canonical ENST00000429709 · 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 ACTL6A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ACTL6A – 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 | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 13/612 2% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Mesothelioma | 2/62 3% | 1/165 1% |
| Colorectal Carcinoma | 9/143 6% | 25/3239 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 11/1390 1% |
| Bladder Carcinoma | 2/58 3% | 7/956 1% |
| Gastric Carcinoma | 0/74 0% | 15/1809 1% |
| Melanoma | 3/210 1% | 13/1899 1% |
| Neuroendocrine Tumour | 2/154 1% | 3/577 1% |
| Cervical Carcinoma | 1/35 3% | 2/422 0% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Other Solid Cancers | 2/94 2% | 6/1515 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 3/810 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Hepatocellular Carcinoma | 2/46 4% | 8/2210 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
Mutation Distribution
Where ACTL6A is mutated · all tissues, split by cell line vs tissue
How many mutations in ACTL6A 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 538 mutations in ACTL6A
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 |
|---|