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 | 935 | 164 | 763 |
| Samples | 812 | 148 | 656 |
| Peptides | 569 | 101 | 493 |
Function
C7 · Complement C7
This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016].
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 |
|---|---|---|---|
| ENST00000313164 | P10643 | 934 | 568 |
| ENST00000696441 | A0A8Q3SIM0* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 568 amino-acid changes on canonical ENST00000313164 · 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 C7 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in C7 – 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 | 31/210 15% | 186/1899 10% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 28/612 5% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 66/1390 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 28/810 3% |
| Small Cell Lung Carcinoma | 2/9 22% | 25/752 3% |
| Other Solid Cancers | 3/94 3% | 50/1515 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Chondrosarcoma | 1/14 7% | 1/75 1% |
| Neuroendocrine Tumour | 10/154 6% | 5/577 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Colorectal Carcinoma | 17/143 12% | 45/3239 1% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Esophageal Carcinoma | 0/23 0% | 11/769 1% |
| Gastric Carcinoma | 1/74 1% | 21/1809 1% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 23/2550 1% |
| Ovarian Carcinoma | 4/109 4% | 8/998 1% |
| Head and Neck Carcinoma | 3/85 4% | 15/1574 1% |
| Bladder Carcinoma | 1/58 2% | 10/956 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 13/1592 1% |
| Prostate Carcinoma | 2/13 15% | 17/2105 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Breast Carcinoma | 8/144 6% | 22/3264 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Other Sarcomas | 0/69 0% | 6/699 1% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
Mutation Distribution
Where C7 is mutated · all tissues, split by cell line vs tissue
How many mutations in C7 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 935 mutations in C7
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 |
|---|