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 | 811 | 98 | 705 |
| Samples | 281 | 49 | 229 |
| Peptides | 229 | 39 | 195 |
Function
RFX5 · Regulatory factor X5
A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
3 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 229 amino-acid changes on canonical ENST00000452671 · 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 RFX5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RFX5 – 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 | 3/40 8% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 14/612 2% |
| Germ Cell Tumour | 1/25 4% | 2/169 1% |
| Melanoma | 3/210 1% | 29/1899 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Colorectal Carcinoma | 12/143 8% | 35/3239 1% |
| Gastric Carcinoma | 2/74 3% | 20/1809 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Burkitts Lymphoma | 1/32 3% | 1/196 1% |
| Bladder Carcinoma | 1/58 2% | 7/956 1% |
| Other Solid Cancers | 3/94 3% | 9/1515 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 5/810 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 10/1390 1% |
| Non-Cancerous | 0/104 0% | 6/830 1% |
| Ovarian Carcinoma | 4/109 4% | 3/998 0% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 12/2550 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 6/1592 0% |
| Glioma | 0/52 0% | 9/2127 0% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Prostate Carcinoma | 0/13 0% | 7/2105 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
Mutation Distribution
Where RFX5 is mutated · all tissues, split by cell line vs tissue
How many mutations in RFX5 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 811 mutations in RFX5
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 |
|---|