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 | 152 | 53 | 97 |
| Samples | 145 | 51 | 92 |
| Peptides | 106 | 34 | 78 |
Function
PDX1 · Pancreatic and duodenal homeobox 1
The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017].
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 |
|---|---|---|---|
| ENST00000381033 | P52945 | 152 | 106 |
Gene Properties
Recurrent Mutations
All 106 amino-acid changes on canonical ENST00000381033 · 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 PDX1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PDX1 – 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% |
| Endometrial Carcinoma | 6/42 14% | 6/612 1% |
| Ewings Sarcoma | 2/63 3% | 1/262 0% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 4/1390 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| Other Sarcomas | 3/69 4% | 2/699 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Melanoma | 2/210 1% | 9/1899 0% |
| Gastric Carcinoma | 0/74 0% | 9/1809 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Colorectal Carcinoma | 8/143 6% | 7/3239 0% |
| Other Solid Cancers | 2/94 2% | 4/1515 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
| Hepatocellular Carcinoma | 2/46 4% | 6/2210 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Pancreatic Carcinoma | 1/89 1% | 3/1611 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 1/2534 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 2/2550 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 1/2640 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
Mutation Distribution
Where PDX1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PDX1 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 8 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 152 mutations in PDX1
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 |
|---|