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 | 581 | 104 | 471 |
| Samples | 531 | 94 | 431 |
| Peptides | 373 | 62 | 327 |
Function
CFHR5 · Complement factor H related 5
This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000256785 | Q9BXR6 | 581 | 373 |
Gene Properties
Recurrent Mutations
All 373 amino-acid changes on canonical ENST00000256785 · 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 CFHR5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CFHR5 – 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 |
|---|---|---|
| Melanoma | 8/210 4% | 123/1899 6% |
| Other Solid Cancers | 0/94 0% | 45/1515 3% |
| Endometrial Carcinoma | 2/42 5% | 16/612 3% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 19/810 2% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 20/304 7% | 22/1390 2% |
| Mesothelioma | 4/62 6% | 1/165 1% |
| Cervical Carcinoma | 0/35 0% | 10/422 2% |
| Neuroendocrine Tumour | 8/154 5% | 5/577 1% |
| Colorectal Carcinoma | 15/143 10% | 37/3239 1% |
| Gastric Carcinoma | 0/74 0% | 27/1809 1% |
| Bladder Carcinoma | 2/58 3% | 11/956 1% |
| Ewings Sarcoma | 1/63 2% | 3/262 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Esophageal Carcinoma | 2/23 9% | 6/769 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 15/2550 1% |
| Glioma | 0/52 0% | 14/2127 1% |
| Hepatocellular Carcinoma | 0/46 0% | 13/2210 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Ovarian Carcinoma | 1/109 1% | 5/998 0% |
| Head and Neck Carcinoma | 0/85 0% | 9/1574 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Prostate Carcinoma | 3/13 23% | 6/2105 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
Mutation Distribution
Where CFHR5 is mutated · all tissues, split by cell line vs tissue
How many mutations in CFHR5 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 5 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 581 mutations in CFHR5
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 |
|---|