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 | 943 | 91 | 837 |
| Samples | 253 | 38 | 211 |
| Peptides | 253 | 34 | 221 |
Function
PITX2 · Paired like homeodomain 2
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
7 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 |
|---|---|---|---|
| ENST00000644743 | Q99697-2 | 246 | 184 |
| ENST00000354925 | Q99697 | 201 | 158 |
| ENST00000394595 | Q99697 | 193 | 154 |
| ENST00000355080 | Q99697-3 | 176 | 138 |
| ENST00000557119 | U3KQ81* | 79 | 61 |
| ENST00000613094 | A0A8J9G9V2* | 29 | 23 |
| ENST00000614423 | A0A8J9C2I7* | 19 | 11 |
Gene Properties
Recurrent Mutations
All 184 amino-acid changes on canonical ENST00000644743 · 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 PITX2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PITX2 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 18/612 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Melanoma | 1/210 0% | 29/1899 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 10/810 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 17/1390 1% |
| Gastric Carcinoma | 2/74 3% | 17/1809 1% |
| Bladder Carcinoma | 1/58 2% | 8/956 1% |
| Colorectal Carcinoma | 3/143 2% | 24/3239 1% |
| Esophageal Carcinoma | 2/23 9% | 4/769 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Neuroendocrine Tumour | 3/154 2% | 2/577 0% |
| Other Sarcomas | 1/69 1% | 4/699 1% |
| Hepatocellular Carcinoma | 1/46 2% | 11/2210 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Glioma | 0/52 0% | 11/2127 1% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 6/2550 0% |
| Prostate Carcinoma | 2/13 15% | 3/2105 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 3/2534 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Neuroblastoma | 1/87 1% | 2/1331 0% |
Mutation Distribution
Where PITX2 is mutated · all tissues, split by cell line vs tissue
How many mutations in PITX2 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 43 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 943 mutations in PITX2
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 |
|---|