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 | 272 | 23 | 249 |
| Samples | 100 | 9 | 91 |
| Peptides | 88 | 9 | 81 |
Function
CHRFAM7A · CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000299847 | Q494W8 | 102 | 79 |
| ENST00000397827 | A0A0A6YYA8* | 85 | 64 |
| ENST00000401522 | A0A0A6YYA8* | 85 | 64 |
Gene Properties
Recurrent Mutations
All 79 amino-acid changes on canonical ENST00000299847 · 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 CHRFAM7A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CHRFAM7A – 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 | 0/42 0% | 9/612 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 7/810 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 10/1592 1% |
| Melanoma | 0/210 0% | 10/1899 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 6/1390 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Gastric Carcinoma | 0/74 0% | 6/1809 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Colorectal Carcinoma | 2/143 1% | 7/3239 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
| Breast Carcinoma | 1/144 1% | 5/3264 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| B-Lymphoblastic Leukemia | 1/55 2% | 1/2640 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 1/2550 0% |
Mutation Distribution
Where CHRFAM7A is mutated · all tissues, split by cell line vs tissue
How many mutations in CHRFAM7A 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 53 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 272 mutations in CHRFAM7A
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 |
|---|