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 | 209 | 51 | 153 |
| Samples | 194 | 49 | 140 |
| Peptides | 155 | 34 | 122 |
Function
SLC49A4 · Solute carrier family 49 member 4
This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008].
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 |
|---|---|---|---|
| ENST00000261038 | Q96SL1 | 209 | 155 |
Gene Properties
Recurrent Mutations
All 155 amino-acid changes on canonical ENST00000261038 · 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 SLC49A4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SLC49A4 – 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 | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 5/612 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Melanoma | 4/210 2% | 19/1899 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 6/810 1% |
| Bladder Carcinoma | 1/58 2% | 9/956 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 4/1390 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Gastric Carcinoma | 2/74 3% | 11/1809 1% |
| Colorectal Carcinoma | 5/143 4% | 18/3239 1% |
| Other Solid Cancers | 3/94 3% | 8/1515 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 5/1592 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Prostate Carcinoma | 0/13 0% | 6/2105 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Breast Carcinoma | 2/144 1% | 7/3264 0% |
| Other Blood Cancers | 0/61 0% | 7/2725 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 4/2550 0% |
| Pancreatic Carcinoma | 2/89 2% | 1/1611 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 4/2534 0% |
| Glioma | 0/52 0% | 3/2127 0% |
Mutation Distribution
Where SLC49A4 is mutated · all tissues, split by cell line vs tissue
How many mutations in SLC49A4 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.
Mutations
All 209 mutations in SLC49A4
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 |
|---|