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 | 1,144 | 194 | 945 |
| Samples | 604 | 119 | 482 |
| Peptides | 419 | 87 | 352 |
Function
SIGLEC12 · Sialic acid binding Ig like lectin 12
Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].
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 402 amino-acid changes on canonical ENST00000291707 · 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 SIGLEC12 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SIGLEC12 – 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 | 17/210 8% | 101/1899 5% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 25/304 8% | 48/1390 3% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 22/810 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Endometrial Carcinoma | 1/42 2% | 16/612 3% |
| Unknown | 0/10 0% | 1/29 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Other Solid Cancers | 1/94 1% | 39/1515 3% |
| Small Cell Lung Carcinoma | 2/9 22% | 12/752 2% |
| Neuroendocrine Tumour | 10/154 6% | 3/577 1% |
| Bladder Carcinoma | 2/58 3% | 16/956 2% |
| Colorectal Carcinoma | 10/143 7% | 46/3239 1% |
| Non-Cancerous | 3/104 3% | 12/830 1% |
| Meningioma | 0/3 0% | 4/252 2% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Gastric Carcinoma | 2/74 3% | 23/1809 1% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Hepatocellular Carcinoma | 0/46 0% | 27/2210 1% |
| Biliary Tract Carcinoma | 2/54 4% | 10/950 1% |
| Esophageal Carcinoma | 1/23 4% | 8/769 1% |
| Cervical Carcinoma | 1/35 3% | 4/422 1% |
| Ovarian Carcinoma | 3/109 3% | 8/998 1% |
| Head and Neck Carcinoma | 2/85 2% | 9/1574 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Prostate Carcinoma | 0/13 0% | 12/2105 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Breast Carcinoma | 5/144 3% | 13/3264 0% |
Mutation Distribution
Where SIGLEC12 is mutated · all tissues, split by cell line vs tissue
How many mutations in SIGLEC12 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 50 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 1,144 mutations in SIGLEC12
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 |
|---|