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 | 260 | 67 | 193 |
| Samples | 249 | 64 | 185 |
| Peptides | 191 | 39 | 158 |
Function
RSC1A1 · Regulator of solute carriers 1
The protein encoded by this intronless gene inhibits the expression of the solute carrier family 5 (sodium/glucose cotransporter), member 1 gene (SLC5A1) and downregulates exocytosis of the SLC5A1 protein. The encoded protein is sometimes found coating the trans-Golgi network and other times is localized to the nucleus, depending on the cell cycle stage. This protein also inhibits the expression of solute carrier family 22 (organic cation transporter), member 2 (SLC22A2). [provided by RefSeq, Dec 2015].
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 |
|---|---|---|---|
| ENST00000345034 | Q92681 | 260 | 191 |
Gene Properties
Recurrent Mutations
All 191 amino-acid changes on canonical ENST00000345034 · 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 RSC1A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RSC1A1 – 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 |
|---|---|---|
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Bladder Carcinoma | 3/58 5% | 18/956 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 4/210 2% | 28/1899 1% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 13/1390 1% |
| Endometrial Carcinoma | 0/42 0% | 8/612 1% |
| Colorectal Carcinoma | 13/143 9% | 24/3239 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Cervical Carcinoma | 2/35 6% | 2/422 0% |
| Gastric Carcinoma | 5/74 7% | 11/1809 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 6/810 1% |
| Hepatocellular Carcinoma | 1/46 2% | 12/2210 1% |
| Other Solid Cancers | 0/94 0% | 9/1515 1% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Non-Cancerous | 1/104 1% | 4/830 0% |
| Biliary Tract Carcinoma | 2/54 4% | 3/950 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 9/2550 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Esophageal Carcinoma | 1/23 4% | 1/769 0% |
| Breast Carcinoma | 4/144 3% | 4/3264 0% |
| Kidney Carcinoma | 1/85 1% | 3/1862 0% |
| Prostate Carcinoma | 0/13 0% | 4/2105 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
Mutation Distribution
Where RSC1A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in RSC1A1 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 260 mutations in RSC1A1
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 |
|---|