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 | 1,366 | 231 | 1,118 |
| Samples | 1,190 | 209 | 964 |
| Peptides | 910 | 142 | 796 |
Function
SORCS3 · Sortilin related VPS10 domain containing receptor 3
This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 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 |
|---|---|---|---|
| ENST00000369701 | Q9UPU3 | 1,366 | 910 |
Gene Properties
Recurrent Mutations
All 910 amino-acid changes on canonical ENST00000369701 · 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 SORCS3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SORCS3 – 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 |
|---|---|---|
| Melanoma | 34/210 16% | 192/1899 10% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 42/304 14% | 84/1390 6% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 35/612 6% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 46/810 6% |
| Other Solid Cancers | 4/94 4% | 68/1515 4% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Gastric Carcinoma | 4/74 5% | 73/1809 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Colorectal Carcinoma | 26/143 18% | 95/3239 3% |
| Bladder Carcinoma | 5/58 9% | 31/956 3% |
| Small Cell Lung Carcinoma | 2/9 22% | 23/752 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Esophageal Carcinoma | 1/23 4% | 18/769 2% |
| Neuroendocrine Tumour | 9/154 6% | 7/577 1% |
| Head and Neck Carcinoma | 1/85 1% | 32/1574 2% |
| Cervical Carcinoma | 0/35 0% | 9/422 2% |
| Rhabdomyosarcoma | 1/33 3% | 3/171 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Hepatocellular Carcinoma | 2/46 4% | 35/2210 2% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 38/2550 1% |
| Other Sarcomas | 4/69 6% | 8/699 1% |
| Biliary Tract Carcinoma | 3/54 6% | 12/950 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 24/1592 2% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Ovarian Carcinoma | 3/109 3% | 13/998 1% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Non-Cancerous | 0/104 0% | 13/830 2% |
| Mesothelioma | 3/62 5% | 0/165 0% |
Mutation Distribution
Where SORCS3 is mutated · all tissues, split by cell line vs tissue
How many mutations in SORCS3 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 1,366 mutations in SORCS3
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 |
|---|