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 | 334 | 86 | 244 |
| Samples | 322 | 79 | 239 |
| Peptides | 209 | 47 | 171 |
Function
PHOX2B · Paired like homeobox 2B
The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016].
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 |
|---|---|---|---|
| ENST00000226382 | Q99453 | 334 | 209 |
Gene Properties
Recurrent Mutations
All 209 amino-acid changes on canonical ENST00000226382 · 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 PHOX2B · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PHOX2B – 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 | 5/40 12% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 11/612 2% |
| Melanoma | 3/210 1% | 38/1899 2% |
| Colorectal Carcinoma | 7/143 5% | 47/3239 1% |
| Non-Small Cell Lung Carcinoma | 15/304 5% | 12/1390 1% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 6/810 1% |
| Ovarian Carcinoma | 7/109 6% | 5/998 0% |
| Other Solid Cancers | 1/94 1% | 15/1515 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 15/1592 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Neuroendocrine Tumour | 2/154 1% | 4/577 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Esophageal Carcinoma | 0/23 0% | 6/769 1% |
| Gastric Carcinoma | 3/74 4% | 11/1809 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 17/2550 1% |
| B-Cell Non-Hodgkins Lymphoma | 7/88 8% | 7/2534 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Bladder Carcinoma | 2/58 3% | 3/956 0% |
| Head and Neck Carcinoma | 0/85 0% | 8/1574 1% |
| Cervical Carcinoma | 2/35 6% | 0/422 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Pancreatic Carcinoma | 2/89 2% | 3/1611 0% |
| Hepatocellular Carcinoma | 1/46 2% | 5/2210 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
Mutation Distribution
Where PHOX2B is mutated · all tissues, split by cell line vs tissue
How many mutations in PHOX2B 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 9 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 334 mutations in PHOX2B
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 |
|---|