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 | 4,581 | 370 | 4,170 |
| Samples | 533 | 76 | 449 |
| Peptides | 477 | 71 | 418 |
Function
FGFR1 · Fibroblast growth factor receptor 1
The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists 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 both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
13 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 |
|---|---|---|---|
| ENST00000447712 | P11362 | 546 | 332 |
| ENST00000397091 | P11362-7 | 498 | 318 |
| ENST00000335922 | P11362-20 | 497 | 316 |
| ENST00000532791 | P11362-2 | 488 | 309 |
| ENST00000397108 | P11362-7 | 484 | 308 |
| ENST00000397113 | P11362-7 | 484 | 308 |
| ENST00000356207 | P11362-3 | 475 | 303 |
| ENST00000326324 | P11362-14 | 462 | 293 |
| ENST00000397103 | E7EU09* | 430 | 271 |
| ENST00000619564 | B5A958* | 113 | 83 |
| ENST00000341462 | A0A8I3B1S4* | 77 | 50 |
| ENST00000425967 | A0A8I3B1S4* | 25 | 19 |
| ENST00000649678 | A0A3B3ISD1* | 2 | 2 |
Gene Properties
Recurrent Mutations
All 332 amino-acid changes on canonical ENST00000447712 · 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 FGFR1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FGFR1 – 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 | 3/25 12% | 0/0 0% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 6/71 8% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 26/612 4% |
| Gastric Carcinoma | 6/74 8% | 47/1809 3% |
| Melanoma | 7/210 3% | 47/1899 2% |
| Colorectal Carcinoma | 19/143 13% | 52/3239 2% |
| Medulloblastoma | 0/0 0% | 9/450 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Wilms Tumour | 0/5 0% | 8/474 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Glioma | 0/52 0% | 32/2127 2% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 15/1390 1% |
| Other Solid Cancers | 4/94 4% | 16/1515 1% |
| Ewings Sarcoma | 2/63 3% | 2/262 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 9/810 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Other Sarcomas | 0/69 0% | 8/699 1% |
| Biliary Tract Carcinoma | 0/54 0% | 10/950 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 15/1592 1% |
| Neuroblastoma | 0/87 0% | 13/1331 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Mesothelioma | 1/62 2% | 1/165 1% |
| Neuroendocrine Tumour | 2/154 1% | 4/577 1% |
| Esophageal Carcinoma | 0/23 0% | 6/769 1% |
| Head and Neck Carcinoma | 2/85 2% | 10/1574 1% |
| Ovarian Carcinoma | 0/109 0% | 8/998 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
Mutation Distribution
Where FGFR1 is mutated · all tissues, split by cell line vs tissue
How many mutations in FGFR1 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 4,581 mutations in FGFR1
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 |
|---|