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 | 4,632 | 352 | 4,260 |
| Samples | 528 | 84 | 441 |
| Peptides | 556 | 77 | 501 |
Function
FOXP2 · Forkhead box P2
This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010].
Isoforms & Proteins
14 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 |
|---|---|---|---|
| ENST00000350908 | O15409 | 560 | 413 |
| ENST00000408937 | O15409-4 | 510 | 391 |
| ENST00000403559 | O15409-9 | 505 | 387 |
| ENST00000393494 | O15409 | 469 | 362 |
| ENST00000635638 | A0A0U1RQM2* | 469 | 362 |
| ENST00000635534 | A0A0U1RQY3* | 466 | 362 |
| ENST00000634411 | A0A0U1RQR8* | 458 | 355 |
| ENST00000393498 | A8MUV4* | 455 | 352 |
| ENST00000390668 | Q8N6B5* | 259 | 211 |
| ENST00000360232 | O15409-6 | 244 | 201 |
| ENST00000378237 | O15409-7 | 198 | 166 |
| ENST00000462331 | Q75MZ5* | 31 | 27 |
| ENST00000393489 | O15409-8 | 7 | 7 |
| ENST00000703612 | A0A0U1RQY3* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 415 amino-acid changes on canonical ENST00000350908 · 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 FOXP2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FOXP2 – 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% |
| Endometrial Carcinoma | 5/42 12% | 24/612 4% |
| Non-Small Cell Lung Carcinoma | 17/304 6% | 36/1390 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Melanoma | 9/210 4% | 55/1899 3% |
| Gastric Carcinoma | 3/74 4% | 49/1809 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Colorectal Carcinoma | 13/143 9% | 51/3239 2% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 13/810 2% |
| Ovarian Carcinoma | 5/109 5% | 11/998 1% |
| Other Solid Cancers | 2/94 2% | 19/1515 1% |
| Esophageal Carcinoma | 0/23 0% | 10/769 1% |
| Meningioma | 0/3 0% | 3/252 1% |
| Bladder Carcinoma | 1/58 2% | 10/956 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 26/2550 1% |
| Neuroendocrine Tumour | 5/154 3% | 2/577 0% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Cervical Carcinoma | 1/35 3% | 3/422 1% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Head and Neck Carcinoma | 2/85 2% | 12/1574 1% |
| Glioma | 0/52 0% | 18/2127 1% |
| Biliary Tract Carcinoma | 0/54 0% | 8/950 1% |
| Hepatocellular Carcinoma | 0/46 0% | 18/2210 1% |
| Other Sarcomas | 1/69 1% | 5/699 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Pancreatic Carcinoma | 0/89 0% | 8/1611 0% |
| Kidney Carcinoma | 1/85 1% | 8/1862 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
Mutation Distribution
Where FOXP2 is mutated · all tissues, split by cell line vs tissue
How many mutations in FOXP2 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 4,632 mutations in FOXP2
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 |
|---|