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 | 1,054 | 163 | 883 |
| Samples | 236 | 56 | 177 |
| Peptides | 196 | 38 | 159 |
Function
SLC52A2 · Solute carrier family 52 member 2
This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012].
Isoforms & Proteins
8 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 163 amino-acid changes on canonical ENST00000643944 · 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 SLC52A2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SLC52A2 – 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 | 2/25 8% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Melanoma | 2/210 1% | 30/1899 2% |
| Other Solid Cancers | 2/94 2% | 18/1515 1% |
| Ewings Sarcoma | 4/63 6% | 0/262 0% |
| Endometrial Carcinoma | 1/42 2% | 7/612 1% |
| Gastric Carcinoma | 2/74 3% | 21/1809 1% |
| Colorectal Carcinoma | 6/143 4% | 32/3239 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 6/752 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Other Sarcomas | 3/69 4% | 2/699 0% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 8/1390 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 4/810 0% |
| Head and Neck Carcinoma | 1/85 1% | 7/1574 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Neuroendocrine Tumour | 3/154 2% | 0/577 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Ovarian Carcinoma | 0/109 0% | 4/998 0% |
| Breast Carcinoma | 6/144 4% | 5/3264 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Glioma | 0/52 0% | 6/2127 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| B-Lymphoblastic Leukemia | 4/55 7% | 1/2640 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 1/2550 0% |
Mutation Distribution
Where SLC52A2 is mutated · all tissues, split by cell line vs tissue
How many mutations in SLC52A2 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 1,054 mutations in SLC52A2
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 |
|---|