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 | 512 | 74 | 427 |
| Samples | 275 | 51 | 218 |
| Peptides | 226 | 34 | 193 |
Function
SORT1 · Sortilin 1
This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 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 218 amino-acid changes on canonical ENST00000256637 · 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 SORT1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SORT1 – 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 | 3/25 12% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 10/612 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Bladder Carcinoma | 2/58 3% | 14/956 1% |
| Melanoma | 5/210 2% | 24/1899 1% |
| Other Solid Cancers | 2/94 2% | 20/1515 1% |
| Ewings Sarcoma | 1/63 2% | 2/262 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Colorectal Carcinoma | 4/143 3% | 25/3239 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 9/1390 1% |
| Esophageal Carcinoma | 0/23 0% | 6/769 1% |
| Gastric Carcinoma | 0/74 0% | 14/1809 1% |
| Neuroendocrine Tumour | 1/154 1% | 4/577 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Hepatocellular Carcinoma | 2/46 4% | 12/2210 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 10/1592 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Ovarian Carcinoma | 3/109 3% | 3/998 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 14/2550 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 2/752 0% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 3/810 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Head and Neck Carcinoma | 0/85 0% | 7/1574 0% |
| Glioma | 0/52 0% | 9/2127 0% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Breast Carcinoma | 1/144 1% | 11/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 3/2534 0% |
Mutation Distribution
Where SORT1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SORT1 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 54 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 512 mutations in SORT1
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 |
|---|