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 | 212 | 42 | 162 |
| Samples | 202 | 40 | 158 |
| Peptides | 144 | 27 | 116 |
Function
ACTL7A · Actin like 7A
The protein encoded by this gene is a member of a family 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 (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000333999 | Q9Y615 | 212 | 144 |
Gene Properties
Recurrent Mutations
All 144 amino-acid changes on canonical ENST00000333999 · 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 ACTL7A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ACTL7A – 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 |
|---|---|---|
| Endometrial Carcinoma | 3/42 7% | 11/612 2% |
| Colorectal Carcinoma | 9/143 6% | 34/3239 1% |
| Melanoma | 3/210 1% | 22/1899 1% |
| Gastric Carcinoma | 0/74 0% | 22/1809 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 10/1390 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Hepatocellular Carcinoma | 1/46 2% | 9/2210 0% |
| Other Solid Cancers | 0/94 0% | 7/1515 0% |
| Neuroendocrine Tumour | 3/154 2% | 0/577 0% |
| Bladder Carcinoma | 2/58 3% | 2/956 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Head and Neck Carcinoma | 2/85 2% | 3/1574 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Prostate Carcinoma | 2/13 15% | 3/2105 0% |
| Pancreatic Carcinoma | 1/89 1% | 3/1611 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Biliary Tract Carcinoma | 1/54 2% | 1/950 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Breast Carcinoma | 2/144 1% | 4/3264 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Other Blood Cancers | 1/61 2% | 3/2725 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
Mutation Distribution
Where ACTL7A is mutated · all tissues, split by cell line vs tissue
How many mutations in ACTL7A 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 20 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 212 mutations in ACTL7A
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 |
|---|