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 | 245 | 45 | 195 |
| Samples | 130 | 33 | 95 |
| Peptides | 115 | 28 | 84 |
Function
SLC46A1 · Solute carrier family 46 member 1
This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013].
Isoforms & Proteins
2 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 112 amino-acid changes on canonical ENST00000612814 · 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 SLC46A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SLC46A1 – 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 |
|---|---|---|
| Endometrial Carcinoma | 6/42 14% | 7/612 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Bladder Carcinoma | 1/58 2% | 6/956 1% |
| Gastric Carcinoma | 4/74 5% | 8/1809 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 10/1592 1% |
| Melanoma | 0/210 0% | 12/1899 1% |
| Neuroendocrine Tumour | 3/154 2% | 1/577 0% |
| Ovarian Carcinoma | 3/109 3% | 3/998 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Other Solid Cancers | 1/94 1% | 4/1515 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 2/1390 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Other Sarcomas | 2/69 3% | 0/699 0% |
| Breast Carcinoma | 2/144 1% | 7/3264 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Colorectal Carcinoma | 0/143 0% | 6/3239 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Glioma | 1/52 2% | 3/2127 0% |
| Kidney Carcinoma | 1/85 1% | 2/1862 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 1/2534 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
Mutation Distribution
Where SLC46A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SLC46A1 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 245 mutations in SLC46A1
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 |
|---|