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 | 2,273 | 202 | 2,033 |
| Samples | 625 | 96 | 516 |
| Peptides | 471 | 77 | 405 |
Function
FGFR3 · Fibroblast growth factor receptor 3
This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000440486 | P22607 | 640 | 334 |
| ENST00000340107 | P22607-2 | 564 | 296 |
| ENST00000481110 | F8W9L4* | 542 | 276 |
| ENST00000352904 | P22607-3 | 423 | 230 |
| ENST00000412135 | A0A7I2RW32* | 104 | 57 |
Gene Properties
Recurrent Mutations
All 334 amino-acid changes on canonical ENST00000440486 · 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 FGFR3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FGFR3 – 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 |
|---|---|---|
| Bladder Carcinoma | 7/58 12% | 147/956 15% |
| T-Lymphoblastic Leukemia | 5/40 12% | 0/0 0% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 20/612 3% |
| Plasma Cell Myeloma | 5/44 11% | 7/305 2% |
| Melanoma | 13/210 6% | 52/1899 3% |
| Adrenocortical Carcinoma | 2/3 67% | 1/112 1% |
| Burkitts Lymphoma | 5/32 16% | 0/196 0% |
| Colorectal Carcinoma | 10/143 7% | 59/3239 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Gastric Carcinoma | 2/74 3% | 35/1809 2% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 12/810 1% |
| Head and Neck Carcinoma | 1/85 1% | 21/1574 1% |
| Other Solid Cancers | 0/94 0% | 21/1515 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 13/1390 1% |
| Non-Cancerous | 1/104 1% | 9/830 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 16/1592 1% |
| Cervical Carcinoma | 2/35 6% | 2/422 0% |
| Neuroendocrine Tumour | 3/154 2% | 3/577 1% |
| Biliary Tract Carcinoma | 2/54 4% | 6/950 1% |
| Other Sarcomas | 2/69 3% | 4/699 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 16/2550 1% |
| Ovarian Carcinoma | 5/109 5% | 3/998 0% |
| Prostate Carcinoma | 0/13 0% | 15/2105 1% |
| Kidney Carcinoma | 0/85 0% | 13/1862 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Glioma | 0/52 0% | 12/2127 1% |
| Esophageal Carcinoma | 2/23 9% | 2/769 0% |
Mutation Distribution
Where FGFR3 is mutated · all tissues, split by cell line vs tissue
How many mutations in FGFR3 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 2,273 mutations in FGFR3
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 |
|---|