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 | 288 | 44 | 239 |
| Samples | 264 | 43 | 217 |
| Peptides | 218 | 30 | 192 |
Function
CFB · Complement factor B
This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000425368 | P00751 | 285 | 215 |
| ENST00000375455 | A0A0G2JH38* | 3 | 3 |
Gene Properties
Recurrent Mutations
All 215 amino-acid changes on canonical ENST00000425368 · 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 CFB · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CFB – 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 | 6/40 15% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Rhabdomyosarcoma | 0/33 0% | 5/171 3% |
| Melanoma | 2/210 1% | 41/1899 2% |
| Endometrial Carcinoma | 4/42 10% | 4/612 1% |
| Colorectal Carcinoma | 7/143 5% | 32/3239 1% |
| Gastric Carcinoma | 2/74 3% | 16/1809 1% |
| Bladder Carcinoma | 1/58 2% | 8/956 1% |
| Cervical Carcinoma | 2/35 6% | 2/422 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 3/752 0% |
| Hepatocellular Carcinoma | 0/46 0% | 15/2210 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 9/1390 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Other Solid Cancers | 0/94 0% | 9/1515 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Head and Neck Carcinoma | 0/85 0% | 7/1574 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
| Prostate Carcinoma | 0/13 0% | 7/2105 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Pancreatic Carcinoma | 2/89 2% | 3/1611 0% |
| Glioma | 0/52 0% | 6/2127 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 7/2550 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
Mutation Distribution
Where CFB is mutated · all tissues, split by cell line vs tissue
How many mutations in CFB 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 288 mutations in CFB
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 |
|---|