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 | 179 | 37 | 140 |
| Samples | 175 | 36 | 137 |
| Peptides | 137 | 31 | 108 |
Function
PTF1A · Pancreas associated transcription factor 1a
This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [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 |
|---|---|---|---|
| ENST00000376504 | Q7RTS3 | 179 | 137 |
Gene Properties
Recurrent Mutations
All 137 amino-acid changes on canonical ENST00000376504 · 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 PTF1A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PTF1A – 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% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Germ Cell Tumour | 1/25 4% | 2/169 1% |
| Endometrial Carcinoma | 1/42 2% | 6/612 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 13/1390 1% |
| Colorectal Carcinoma | 6/143 4% | 20/3239 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Melanoma | 1/210 0% | 14/1899 1% |
| Neuroendocrine Tumour | 5/154 3% | 0/577 0% |
| Gastric Carcinoma | 2/74 3% | 8/1809 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 11/2550 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Pancreatic Carcinoma | 4/89 4% | 1/1611 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| B-Lymphoblastic Leukemia | 5/55 9% | 1/2640 0% |
| Breast Carcinoma | 2/144 1% | 5/3264 0% |
| Neuroblastoma | 1/87 1% | 2/1331 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
Mutation Distribution
Where PTF1A is mutated · all tissues, split by cell line vs tissue
How many mutations in PTF1A 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 26 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 179 mutations in PTF1A
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 |
|---|