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 | 3,615 | 464 | 3,082 |
| Samples | 1,244 | 299 | 927 |
| Peptides | 874 | 170 | 735 |
Function
SALL3 · Spalt like transcription factor 3
This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011].
Isoforms & Proteins
3 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 829 amino-acid changes on canonical ENST00000537592 · 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 SALL3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SALL3 – 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 | 5/25 20% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 5/26 19% | 0/0 0% |
| T-Lymphoblastic Leukemia | 6/40 15% | 0/0 0% |
| Melanoma | 27/210 13% | 120/1899 6% |
| Endometrial Carcinoma | 7/42 17% | 32/612 5% |
| Other Solid Cancers | 7/94 7% | 85/1515 6% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 40/810 5% |
| Non-Small Cell Lung Carcinoma | 29/304 10% | 56/1390 4% |
| Gastric Carcinoma | 2/74 3% | 88/1809 5% |
| Colorectal Carcinoma | 28/143 20% | 131/3239 4% |
| Neuroendocrine Tumour | 23/154 15% | 7/577 1% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Osteosarcoma | 5/45 11% | 1/166 1% |
| Other Sarcomas | 8/69 12% | 13/699 2% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 69/2550 3% |
| Ovarian Carcinoma | 13/109 12% | 16/998 2% |
| Germ Cell Tumour | 3/25 12% | 2/169 1% |
| Unknown | 1/10 10% | 0/29 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 19/752 3% |
| Rhabdomyosarcoma | 3/33 9% | 2/171 1% |
| Non-Cancerous | 8/104 8% | 13/830 2% |
| Mesothelioma | 5/62 8% | 0/165 0% |
| Burkitts Lymphoma | 5/32 16% | 0/196 0% |
| Pancreatic Carcinoma | 8/89 9% | 29/1611 2% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Bladder Carcinoma | 4/58 7% | 16/956 2% |
Mutation Distribution
Where SALL3 is mutated · all tissues, split by cell line vs tissue
How many mutations in SALL3 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 35 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 3,615 mutations in SALL3
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 |
|---|