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 | 519 | 80 | 438 |
| Samples | 145 | 32 | 112 |
| Peptides | 104 | 24 | 85 |
Function
RFXANK · Regulatory factor X associated ankyrin containing protein
Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013].
Isoforms & Proteins
4 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 |
|---|---|---|---|
| ENST00000303088 | O14593 | 146 | 93 |
| ENST00000407360 | O14593 | 131 | 87 |
| ENST00000392324 | A0A024R7P0* | 121 | 79 |
| ENST00000456252 | O14593-3 | 121 | 79 |
Gene Properties
Recurrent Mutations
All 93 amino-acid changes on canonical ENST00000303088 · 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 RFXANK · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RFXANK – 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 |
|---|---|---|
| Chordoma | 2/7 29% | 1/13 8% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 6/612 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Gastric Carcinoma | 0/74 0% | 14/1809 1% |
| Ovarian Carcinoma | 6/109 6% | 2/998 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Bladder Carcinoma | 1/58 2% | 6/956 1% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 7/1390 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Colorectal Carcinoma | 0/143 0% | 12/3239 0% |
| Melanoma | 2/210 1% | 5/1899 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Breast Carcinoma | 0/144 0% | 8/3264 0% |
| Kidney Carcinoma | 3/85 4% | 1/1862 0% |
| Prostate Carcinoma | 0/13 0% | 4/2105 0% |
| Other Blood Cancers | 0/61 0% | 5/2725 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Other Sarcomas | 1/69 1% | 0/699 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 0/810 0% |
Mutation Distribution
Where RFXANK is mutated · all tissues, split by cell line vs tissue
How many mutations in RFXANK 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 519 mutations in RFXANK
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 |
|---|