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 | 5,501 | 806 | 4,670 |
| Samples | 1,044 | 213 | 825 |
| Peptides | 780 | 145 | 680 |
Function
CR1 · Complement C3b/C4b receptor 1 (Knops blood group)
This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020].
Isoforms & Proteins
5 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 805 amino-acid changes on canonical ENST00000367049 · 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 CR1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CR1 – 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 | 8/40 20% | 0/0 0% |
| Chronic Myelogenous Leukemia | 5/25 20% | 0/0 0% |
| Melanoma | 21/210 10% | 156/1899 8% |
| Endometrial Carcinoma | 8/42 19% | 41/612 7% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 42/304 14% | 61/1390 4% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 38/810 5% |
| Chordoma | 1/7 14% | 0/13 0% |
| Other Solid Cancers | 5/94 5% | 68/1515 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Colorectal Carcinoma | 19/143 13% | 85/3239 3% |
| Bladder Carcinoma | 3/58 5% | 27/956 3% |
| Rhabdomyosarcoma | 4/33 12% | 2/171 1% |
| Gastric Carcinoma | 3/74 4% | 47/1809 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 17/752 2% |
| Cervical Carcinoma | 2/35 6% | 8/422 2% |
| Ewings Sarcoma | 2/63 3% | 5/262 2% |
| Burkitts Lymphoma | 4/32 12% | 0/196 0% |
| Hepatocellular Carcinoma | 7/46 15% | 31/2210 1% |
| Esophageal Squamous Cell Carcinoma | 5/51 10% | 36/2550 1% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Thyroid Gland Carcinoma | 0/45 0% | 25/1592 2% |
| Neuroendocrine Tumour | 6/154 4% | 5/577 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Head and Neck Carcinoma | 1/85 1% | 22/1574 1% |
| Plasma Cell Myeloma | 3/44 7% | 1/305 0% |
| Esophageal Carcinoma | 1/23 4% | 8/769 1% |
Mutation Distribution
Where CR1 is mutated · all tissues, split by cell line vs tissue
How many mutations in CR1 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 53 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 5,501 mutations in CR1
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 |
|---|