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 | 743 | 154 | 578 |
| Samples | 652 | 143 | 503 |
| Peptides | 469 | 93 | 393 |
Function
SLC6A5 · Solute carrier family 6 member 5
This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016].
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 |
|---|---|---|---|
| ENST00000525748 | Q9Y345 | 743 | 469 |
Gene Properties
Recurrent Mutations
All 469 amino-acid changes on canonical ENST00000525748 · 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 SLC6A5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SLC6A5 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Melanoma | 15/210 7% | 91/1899 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 23/612 4% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 13/304 4% | 43/1390 3% |
| Colorectal Carcinoma | 22/143 15% | 73/3239 2% |
| Neuroendocrine Tumour | 18/154 12% | 2/577 0% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 19/810 2% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Chondrosarcoma | 1/14 7% | 1/75 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 17/752 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Mesothelioma | 3/62 5% | 1/165 1% |
| Plasma Cell Myeloma | 2/44 5% | 4/305 1% |
| Gastric Carcinoma | 3/74 4% | 29/1809 2% |
| Other Solid Cancers | 3/94 3% | 21/1515 1% |
| Bladder Carcinoma | 2/58 3% | 13/956 1% |
| Ovarian Carcinoma | 6/109 6% | 9/998 1% |
| Cervical Carcinoma | 2/35 6% | 3/422 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Head and Neck Carcinoma | 1/85 1% | 15/1574 1% |
| Biliary Tract Carcinoma | 1/54 2% | 8/950 1% |
| Hepatocellular Carcinoma | 0/46 0% | 20/2210 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Non-Cancerous | 1/104 1% | 7/830 1% |
| Meningioma | 0/3 0% | 2/252 1% |
| Breast Carcinoma | 8/144 6% | 18/3264 1% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 13/2550 1% |
Mutation Distribution
Where SLC6A5 is mutated · all tissues, split by cell line vs tissue
How many mutations in SLC6A5 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 16 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 743 mutations in SLC6A5
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 |
|---|