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 | 857 | 158 | 685 |
| Samples | 757 | 139 | 607 |
| Peptides | 552 | 98 | 474 |
Function
RFX6 · Regulatory factor X6
The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000332958 | Q8HWS3 | 857 | 552 |
Gene Properties
Recurrent Mutations
All 552 amino-acid changes on canonical ENST00000332958 · 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 RFX6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RFX6 – 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 | 7/40 18% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 4/26 15% | 0/0 0% |
| Melanoma | 16/210 8% | 161/1899 8% |
| Endometrial Carcinoma | 10/42 24% | 28/612 5% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Other Solid Cancers | 1/94 1% | 68/1515 4% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 28/810 3% |
| Non-Small Cell Lung Carcinoma | 20/304 7% | 33/1390 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Colorectal Carcinoma | 24/143 17% | 47/3239 1% |
| Gastric Carcinoma | 6/74 8% | 29/1809 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 14/752 2% |
| Neuroendocrine Tumour | 6/154 4% | 7/577 1% |
| Other Sarcomas | 6/69 9% | 7/699 1% |
| Head and Neck Carcinoma | 4/85 5% | 21/1574 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Esophageal Carcinoma | 0/23 0% | 11/769 1% |
| Hepatocellular Carcinoma | 3/46 7% | 28/2210 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Bladder Carcinoma | 1/58 2% | 9/956 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 25/2550 1% |
| Ovarian Carcinoma | 6/109 6% | 4/998 0% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Glioma | 0/52 0% | 18/2127 1% |
| Biliary Tract Carcinoma | 1/54 2% | 7/950 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 11/1592 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Breast Carcinoma | 2/144 1% | 19/3264 1% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
Mutation Distribution
Where RFX6 is mutated · all tissues, split by cell line vs tissue
How many mutations in RFX6 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 31 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 857 mutations in RFX6
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 |
|---|