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 | 883 | 123 | 739 |
| Samples | 642 | 100 | 528 |
| Peptides | 418 | 73 | 352 |
Function
CSF1R · Colony stimulating factor 1 receptor
The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017].
Isoforms & Proteins
3 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 386 amino-acid changes on canonical ENST00000286301 · 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 CSF1R · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CSF1R – 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 | 3/40 8% | 0/0 0% |
| Other Solid Cancers | 2/94 2% | 65/1515 4% |
| Melanoma | 11/210 5% | 68/1899 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 19/612 3% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 79/2550 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Non-Small Cell Lung Carcinoma | 22/304 7% | 21/1390 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 10/422 2% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Colorectal Carcinoma | 13/143 9% | 54/3239 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 14/752 2% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Gastric Carcinoma | 2/74 3% | 26/1809 1% |
| Bladder Carcinoma | 1/58 2% | 14/956 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 10/810 1% |
| Burkitts Lymphoma | 2/32 6% | 1/196 1% |
| Non-Cancerous | 1/104 1% | 10/830 1% |
| Other Sarcomas | 3/69 4% | 5/699 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Esophageal Carcinoma | 0/23 0% | 7/769 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 11/1592 1% |
| Hepatocellular Carcinoma | 0/46 0% | 16/2210 1% |
| Glioma | 1/52 2% | 14/2127 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
Mutation Distribution
Where CSF1R is mutated · all tissues, split by cell line vs tissue
How many mutations in CSF1R 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 883 mutations in CSF1R
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 |
|---|