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 | 1,198 | 167 | 1,016 |
| Samples | 469 | 92 | 370 |
| Peptides | 368 | 63 | 307 |
Function
SIGLEC8 · Sialic acid binding Ig like lectin 8
Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010].
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 337 amino-acid changes on canonical ENST00000321424 · 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 SIGLEC8 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SIGLEC8 – 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-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Melanoma | 6/210 3% | 71/1899 4% |
| Endometrial Carcinoma | 2/42 5% | 19/612 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 17/304 6% | 32/1390 2% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Neuroendocrine Tumour | 16/154 10% | 2/577 0% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 17/810 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Other Solid Cancers | 1/94 1% | 31/1515 2% |
| Colorectal Carcinoma | 11/143 8% | 51/3239 2% |
| Bladder Carcinoma | 0/58 0% | 13/956 1% |
| Ovarian Carcinoma | 4/109 4% | 10/998 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Gastric Carcinoma | 3/74 4% | 13/1809 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 12/1592 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 17/2550 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Esophageal Carcinoma | 1/23 4% | 4/769 1% |
| Glioma | 1/52 2% | 11/2127 1% |
| Hepatocellular Carcinoma | 0/46 0% | 12/2210 1% |
| Kidney Carcinoma | 3/85 4% | 7/1862 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Breast Carcinoma | 3/144 2% | 13/3264 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
Mutation Distribution
Where SIGLEC8 is mutated · all tissues, split by cell line vs tissue
How many mutations in SIGLEC8 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 52 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 1,198 mutations in SIGLEC8
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 |
|---|