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 | 698 | 138 | 541 |
| Samples | 610 | 119 | 479 |
| Peptides | 513 | 85 | 431 |
Function
C5 · Complement C5
This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015].
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 |
|---|---|---|---|
| ENST00000223642 | P01031 | 696 | 512 |
| ENST00000696281 | A0A8Q3SID6* | 2 | 2 |
Gene Properties
Recurrent Mutations
All 512 amino-acid changes on canonical ENST00000223642 · 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 C5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in C5 – 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 | 9/40 22% | 0/0 0% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 34/612 6% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Melanoma | 9/210 4% | 77/1899 4% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Other Solid Cancers | 3/94 3% | 40/1515 3% |
| Colorectal Carcinoma | 12/143 8% | 66/3239 2% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 13/810 2% |
| Bladder Carcinoma | 1/58 2% | 17/956 2% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 20/1390 1% |
| Gastric Carcinoma | 6/74 8% | 26/1809 1% |
| Other Sarcomas | 6/69 9% | 7/699 1% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Cervical Carcinoma | 1/35 3% | 6/422 1% |
| Rhabdomyosarcoma | 1/33 3% | 2/171 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Neuroendocrine Tumour | 6/154 4% | 4/577 1% |
| Hepatocellular Carcinoma | 0/46 0% | 30/2210 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 18/1592 1% |
| Head and Neck Carcinoma | 1/85 1% | 15/1574 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Plasma Cell Myeloma | 0/44 0% | 3/305 1% |
| Breast Carcinoma | 9/144 6% | 19/3264 1% |
| Ovarian Carcinoma | 1/109 1% | 8/998 1% |
| Biliary Tract Carcinoma | 1/54 2% | 7/950 1% |
| Esophageal Carcinoma | 0/23 0% | 6/769 1% |
Mutation Distribution
Where C5 is mutated · all tissues, split by cell line vs tissue
How many mutations in C5 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 698 mutations in C5
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 |
|---|