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 | 332 | 57 | 269 |
| Samples | 314 | 56 | 255 |
| Peptides | 238 | 37 | 199 |
Function
ATF6 · Activating transcription factor 6
This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011].
Isoforms & Proteins
2 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 |
|---|---|---|---|
| ENST00000367942 | P18850 | 331 | 237 |
| ENST00000680688 | A0A7P0Z421* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 237 amino-acid changes on canonical ENST00000367942 · 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 ATF6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ATF6 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Endometrial Carcinoma | 2/42 5% | 21/612 3% |
| Rhabdomyosarcoma | 0/33 0% | 5/171 3% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 12/304 4% | 19/1390 1% |
| Melanoma | 4/210 2% | 34/1899 2% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Colorectal Carcinoma | 15/143 10% | 32/3239 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 7/810 1% |
| Other Solid Cancers | 0/94 0% | 15/1515 1% |
| Ewings Sarcoma | 1/63 2% | 2/262 1% |
| Ovarian Carcinoma | 3/109 3% | 6/998 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Meningioma | 0/3 0% | 2/252 1% |
| Gastric Carcinoma | 1/74 1% | 12/1809 1% |
| Cervical Carcinoma | 1/35 3% | 2/422 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Head and Neck Carcinoma | 1/85 1% | 9/1574 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 4/1592 0% |
| Prostate Carcinoma | 2/13 15% | 5/2105 0% |
| Breast Carcinoma | 0/144 0% | 11/3264 0% |
| Kidney Carcinoma | 0/85 0% | 6/1862 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 7/2550 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
Mutation Distribution
Where ATF6 is mutated · all tissues, split by cell line vs tissue
How many mutations in ATF6 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 332 mutations in ATF6
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 |
|---|