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 | 185 | 41 | 141 |
| Samples | 169 | 39 | 127 |
| Peptides | 132 | 24 | 111 |
Function
FKBP4 · FKBP prolyl isomerase 4
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008].
Isoforms & Proteins
2 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.
Gene Properties
Recurrent Mutations
All 129 amino-acid changes on canonical ENST00000001008 · 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 FKBP4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FKBP4 – 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 |
|---|---|---|
| Endometrial Carcinoma | 2/42 5% | 9/612 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Colorectal Carcinoma | 8/143 6% | 25/3239 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 6/1390 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Neuroendocrine Tumour | 2/154 1% | 3/577 1% |
| Melanoma | 1/210 0% | 13/1899 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 3/810 0% |
| Other Solid Cancers | 1/94 1% | 7/1515 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 7/1592 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Gastric Carcinoma | 0/74 0% | 7/1809 0% |
| Head and Neck Carcinoma | 2/85 2% | 4/1574 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 5/2550 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Breast Carcinoma | 2/144 1% | 6/3264 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Non-Cancerous | 2/104 2% | 0/830 0% |
| Biliary Tract Carcinoma | 1/54 2% | 1/950 0% |
| B-Lymphoblastic Leukemia | 3/55 5% | 1/2640 0% |
| Prostate Carcinoma | 1/13 8% | 2/2105 0% |
| Ovarian Carcinoma | 1/109 1% | 0/998 0% |
| Other Blood Cancers | 0/61 0% | 2/2725 0% |
| Neuroblastoma | 0/87 0% | 1/1331 0% |
Mutation Distribution
Where FKBP4 is mutated · all tissues, split by cell line vs tissue
How many mutations in FKBP4 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 185 mutations in FKBP4
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 |
|---|