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 | 3,413 | 393 | 2,987 |
| Samples | 1,018 | 170 | 835 |
| Peptides | 839 | 123 | 727 |
Function
SAMD9L · Sterile alpha motif domain containing 9 like
This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017].
Isoforms & Proteins
4 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 839 amino-acid changes on canonical ENST00000318238 · 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 SAMD9L · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SAMD9L – 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 |
|---|---|---|
| Chordoma | 2/7 29% | 0/13 0% |
| Melanoma | 12/210 6% | 171/1899 9% |
| Endometrial Carcinoma | 7/42 17% | 47/612 8% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 22/304 7% | 59/1390 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Other Solid Cancers | 5/94 5% | 58/1515 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Gastric Carcinoma | 10/74 14% | 58/1809 3% |
| Colorectal Carcinoma | 20/143 14% | 95/3239 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 24/810 3% |
| Plasma Cell Myeloma | 6/44 14% | 4/305 1% |
| Esophageal Squamous Cell Carcinoma | 9/51 18% | 60/2550 2% |
| Neuroendocrine Tumour | 11/154 7% | 6/577 1% |
| Bladder Carcinoma | 0/58 0% | 22/956 2% |
| Small Cell Lung Carcinoma | 3/9 33% | 13/752 2% |
| Esophageal Carcinoma | 0/23 0% | 16/769 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Burkitts Lymphoma | 3/32 9% | 1/196 1% |
| Ovarian Carcinoma | 5/109 5% | 12/998 1% |
| Cervical Carcinoma | 4/35 11% | 3/422 1% |
| Hepatocellular Carcinoma | 2/46 4% | 30/2210 1% |
| Head and Neck Carcinoma | 3/85 4% | 19/1574 1% |
| Mesothelioma | 2/62 3% | 1/165 1% |
| Other Sarcomas | 2/69 3% | 8/699 1% |
| Glioma | 2/52 4% | 24/2127 1% |
| Biliary Tract Carcinoma | 0/54 0% | 11/950 1% |
| Neuroblastoma | 4/87 5% | 11/1331 1% |
Mutation Distribution
Where SAMD9L is mutated · all tissues, split by cell line vs tissue
How many mutations in SAMD9L 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 3,413 mutations in SAMD9L
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 |
|---|