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 | 1,070 | 143 | 924 |
| Samples | 529 | 94 | 433 |
| Peptides | 350 | 57 | 305 |
Function
SLC5A7 · Solute carrier family 5 member 7
This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015].
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 349 amino-acid changes on canonical ENST00000264047 · 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 SLC5A7 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SLC5A7 – 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 | 4/40 10% | 0/0 0% |
| Melanoma | 11/210 5% | 90/1899 5% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 12/612 2% |
| Other Solid Cancers | 1/94 1% | 38/1515 3% |
| Non-Small Cell Lung Carcinoma | 16/304 5% | 24/1390 2% |
| Bladder Carcinoma | 4/58 7% | 14/956 1% |
| Mesothelioma | 3/62 5% | 1/165 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 13/752 2% |
| Colorectal Carcinoma | 12/143 8% | 42/3239 1% |
| Esophageal Carcinoma | 0/23 0% | 12/769 2% |
| Gastric Carcinoma | 5/74 7% | 23/1809 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 11/810 1% |
| Ovarian Carcinoma | 6/109 6% | 9/998 1% |
| Hepatocellular Carcinoma | 1/46 2% | 27/2210 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Head and Neck Carcinoma | 2/85 2% | 14/1574 1% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 21/2550 1% |
| Thyroid Gland Carcinoma | 3/45 7% | 10/1592 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Glioma | 1/52 2% | 14/2127 1% |
| Biliary Tract Carcinoma | 2/54 4% | 4/950 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Breast Carcinoma | 6/144 4% | 10/3264 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 6/2534 0% |
Mutation Distribution
Where SLC5A7 is mutated · all tissues, split by cell line vs tissue
How many mutations in SLC5A7 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 47 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 1,070 mutations in SLC5A7
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 |
|---|