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 | 1,694 | 128 | 1,535 |
| Samples | 449 | 29 | 415 |
| Peptides | 423 | 32 | 389 |
Function
FAM208A · Protein TASOR
Core component of the HUSH complex, a multiprotein complex that specifically mediates epigenetic repression of mobile genetic elements, such as retroviruses and transposable elements (PubMed:26022416, PubMed:28581500, PubMed:29211708, PubMed:32976585, PubMed:33009411, PubMed:37433650). The HUSH complex represses LINE-1 (L1) retrotransposons that are still capable of transposition (PubMed:29211708, PubMed:32976585). Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression (PubMed:29211708). The HUSH complex also represses exogenous retroviruses and synthetic transgenes (PubMed:26022416). The HUSH complex also represses expression of latent herpes simplex virus (PubMed:39589886). Mediates silencing of unintegrated retroviral DNA following recruitment by ZNF638: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). The HUSH complex is recruited to genomic loci rich in H3K9me3 and is required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3, as well as MORC2, a chromatin remodeler that compacts chromatin (PubMed:26022416, PubMed:28581500). Within the HUSH complex, TASOR acts as the central scaffold which recruits MPHOSPH8 and PPHLN1 to mobile genetic elements and mediates association with SETDB1 and MORC2 (PubMed:32976585, PubMed:33009411, PubMed:39589886). The ability to silence mobile genetic elements plays a crucial role in early embryonic development: it is required to maintain epiblast cell fitness and cell division (By similarity)
Isoforms & Proteins
4 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000355628 | Q9UK61-4 | 501 | 395 |
| ENST00000493960 | Q9UK61-3 | 460 | 361 |
| ENST00000431842 | Q9UK61-2 | 399 | 317 |
| ENST00000614531 | A0A087X0F1* | 334 | 263 |
Gene Properties
Recurrent Mutations
All 395 amino-acid changes on canonical ENST00000355628 · 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 FAM208A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FAM208A – 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 | 2/40 5% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Endometrial Carcinoma | 0/42 0% | 28/612 5% |
| Unknown | 0/10 0% | 1/29 3% |
| Melanoma | 3/210 1% | 45/1899 2% |
| Bladder Carcinoma | 1/58 2% | 22/956 2% |
| Cervical Carcinoma | 0/35 0% | 10/422 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Colorectal Carcinoma | 4/143 3% | 56/3239 2% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Gastric Carcinoma | 1/74 1% | 28/1809 2% |
| Other Solid Cancers | 1/94 1% | 23/1515 2% |
| Hepatocellular Carcinoma | 0/46 0% | 28/2210 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 9/810 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 10/1390 1% |
| Esophageal Carcinoma | 0/23 0% | 8/769 1% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Kidney Carcinoma | 0/85 0% | 16/1862 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| Prostate Carcinoma | 0/13 0% | 15/2105 1% |
| Breast Carcinoma | 1/144 1% | 19/3264 1% |
| Glioma | 0/52 0% | 12/2127 1% |
| Neuroendocrine Tumour | 1/154 1% | 3/577 1% |
| Ovarian Carcinoma | 0/109 0% | 6/998 1% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 13/2550 1% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
Mutation Distribution
Where FAM208A is mutated · all tissues, split by cell line vs tissue
How many mutations in FAM208A 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 1,694 mutations in FAM208A
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 |
|---|