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 | 475 | 79 | 387 |
| Samples | 459 | 79 | 375 |
| Peptides | 345 | 48 | 303 |
Function
SLC7A14 · Solute carrier family 7 member 14
This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014].
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 |
|---|---|---|---|
| ENST00000231706 | Q8TBB6 | 475 | 345 |
Gene Properties
Recurrent Mutations
All 345 amino-acid changes on canonical ENST00000231706 · 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 SLC7A14 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SLC7A14 – 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 | 2/40 5% | 0/0 0% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Melanoma | 5/210 2% | 70/1899 4% |
| Endometrial Carcinoma | 2/42 5% | 21/612 3% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 16/810 2% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 25/1390 2% |
| Gastric Carcinoma | 0/74 0% | 37/1809 2% |
| Other Solid Cancers | 1/94 1% | 29/1515 2% |
| Cervical Carcinoma | 0/35 0% | 8/422 2% |
| Neuroendocrine Tumour | 8/154 5% | 2/577 0% |
| Colorectal Carcinoma | 10/143 7% | 30/3239 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 7/752 1% |
| Plasma Cell Myeloma | 1/44 2% | 3/305 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 24/2550 1% |
| Head and Neck Carcinoma | 2/85 2% | 16/1574 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Bladder Carcinoma | 1/58 2% | 8/956 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Other Sarcomas | 0/69 0% | 5/699 1% |
| Glioma | 0/52 0% | 12/2127 1% |
| Ovarian Carcinoma | 1/109 1% | 5/998 0% |
| Pancreatic Carcinoma | 0/89 0% | 9/1611 1% |
| Hepatocellular Carcinoma | 1/46 2% | 10/2210 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Prostate Carcinoma | 3/13 23% | 5/2105 0% |
| Kidney Carcinoma | 1/85 1% | 6/1862 0% |
| Non-Cancerous | 2/104 2% | 1/830 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
Mutation Distribution
Where SLC7A14 is mutated · all tissues, split by cell line vs tissue
How many mutations in SLC7A14 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 53 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 475 mutations in SLC7A14
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 |
|---|