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 | 290 | 57 | 230 |
| Samples | 277 | 51 | 223 |
| Peptides | 188 | 36 | 156 |
Function
ACTL6B · Actin like 6B
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 encodes a subunit 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. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].
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 |
|---|---|---|---|
| ENST00000160382 | O94805 | 290 | 188 |
Gene Properties
Recurrent Mutations
All 188 amino-acid changes on canonical ENST00000160382 · 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 ACTL6B · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ACTL6B – 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 | 4/40 10% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Other Solid Cancers | 2/94 2% | 44/1515 3% |
| Endometrial Carcinoma | 6/42 14% | 11/612 2% |
| Melanoma | 8/210 4% | 38/1899 2% |
| Rhabdomyosarcoma | 1/33 3% | 2/171 1% |
| Meningioma | 1/3 33% | 2/252 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 16/1390 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Colorectal Carcinoma | 10/143 7% | 23/3239 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Gastric Carcinoma | 1/74 1% | 15/1809 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Ovarian Carcinoma | 2/109 2% | 4/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Glioma | 1/52 2% | 9/2127 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 7/2550 0% |
| Breast Carcinoma | 1/144 1% | 8/3264 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Prostate Carcinoma | 1/13 8% | 3/2105 0% |
| Hepatocellular Carcinoma | 1/46 2% | 3/2210 0% |
| B-Lymphoblastic Leukemia | 4/55 7% | 0/2640 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
Mutation Distribution
Where ACTL6B is mutated · all tissues, split by cell line vs tissue
How many mutations in ACTL6B 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 40 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 290 mutations in ACTL6B
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 |
|---|