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 | 153 | 26 | 125 |
| Samples | 150 | 26 | 122 |
| Peptides | 110 | 16 | 96 |
Function
SAV1 · Salvador family WW domain containing protein 1
WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012].
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 |
|---|---|---|---|
| ENST00000324679 | Q9H4B6 | 153 | 110 |
Gene Properties
Recurrent Mutations
All 110 amino-acid changes on canonical ENST00000324679 · 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 SAV1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SAV1 – 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 | 5/40 12% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 12/612 2% |
| Melanoma | 1/210 0% | 22/1899 1% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 4/1390 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Colorectal Carcinoma | 3/143 2% | 12/3239 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 11/2550 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Kidney Carcinoma | 0/85 0% | 7/1862 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Ovarian Carcinoma | 0/109 0% | 3/998 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Prostate Carcinoma | 1/13 8% | 4/2105 0% |
| Breast Carcinoma | 2/144 1% | 6/3264 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 1/810 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Other Solid Cancers | 0/94 0% | 3/1515 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Pancreatic Carcinoma | 2/89 2% | 1/1611 0% |
| Gastric Carcinoma | 0/74 0% | 3/1809 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
Mutation Distribution
Where SAV1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SAV1 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 153 mutations in SAV1
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 |
|---|