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 | 4,858 | 697 | 4,031 |
| Samples | 1,791 | 335 | 1,421 |
| Peptides | 1,748 | 270 | 1,455 |
Function
SACS · Sacsin molecular chaperone
This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that 'the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins' (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013].
Isoforms & Proteins
5 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000382292 | Q9NZJ4 | 2,388 | 1,731 |
| ENST00000402364 | Q9NZJ4-2 | 1,819 | 1,403 |
| ENST00000455470 | H0Y6M8* | 341 | 261 |
| ENST00000423156 | B2REB0* | 308 | 232 |
| ENST00000683210 | A0A804HHS6* | 2 | 2 |
Gene Properties
Recurrent Mutations
All 1731 amino-acid changes on canonical ENST00000382292 · 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 SACS · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SACS – 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 | 9/40 22% | 0/0 0% |
| Endometrial Carcinoma | 14/42 33% | 70/612 11% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Oral Cavity Carcinoma | 6/54 11% | 0/0 0% |
| Melanoma | 26/210 12% | 184/1899 10% |
| Colorectal Carcinoma | 47/143 33% | 248/3239 8% |
| Gastric Carcinoma | 12/74 16% | 135/1809 7% |
| Squamous Cell Lung Carcinoma | 11/57 19% | 52/810 6% |
| Non-Small Cell Lung Carcinoma | 43/304 14% | 69/1390 5% |
| Bladder Carcinoma | 6/58 10% | 59/956 6% |
| Other Solid Cancers | 12/94 13% | 85/1515 6% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Esophageal Carcinoma | 4/23 17% | 32/769 4% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Cervical Carcinoma | 3/35 9% | 14/422 3% |
| Hodgkins Lymphoma | 4/16 25% | 1/122 1% |
| Burkitts Lymphoma | 8/32 25% | 0/196 0% |
| Hepatocellular Carcinoma | 3/46 7% | 75/2210 3% |
| Neuroendocrine Tumour | 18/154 12% | 6/577 1% |
| Other Sarcomas | 9/69 13% | 15/699 2% |
| Germ Cell Tumour | 3/25 12% | 3/169 2% |
| Ovarian Carcinoma | 13/109 12% | 21/998 2% |
| Small Cell Lung Carcinoma | 2/9 22% | 18/752 2% |
| Biliary Tract Carcinoma | 2/54 4% | 24/950 3% |
| Head and Neck Carcinoma | 3/85 4% | 40/1574 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Esophageal Squamous Cell Carcinoma | 8/51 16% | 58/2550 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Non-Cancerous | 1/104 1% | 20/830 2% |
| Pancreatic Carcinoma | 3/89 3% | 34/1611 2% |
Mutation Distribution
Where SACS is mutated · all tissues, split by cell line vs tissue
How many mutations in SACS 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 4,858 mutations in SACS
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 |
|---|