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 | 3,749 | 386 | 3,325 |
| Samples | 934 | 148 | 776 |
| Peptides | 707 | 117 | 607 |
Function
PRDM16 · PR/SET domain 16
The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008].
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 670 amino-acid changes on canonical ENST00000270722 · 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 PRDM16 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PRDM16 – 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 | 3/26 12% | 0/0 0% |
| Other Solid Cancers | 3/94 3% | 121/1515 8% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 30/612 5% |
| Melanoma | 18/210 9% | 107/1899 6% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Hodgkins Lymphoma | 2/16 12% | 3/122 2% |
| Colorectal Carcinoma | 25/143 17% | 87/3239 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Bladder Carcinoma | 3/58 5% | 27/956 3% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 20/810 2% |
| Non-Small Cell Lung Carcinoma | 16/304 5% | 26/1390 2% |
| Cervical Carcinoma | 1/35 3% | 10/422 2% |
| Gastric Carcinoma | 0/74 0% | 45/1809 2% |
| Ovarian Carcinoma | 5/109 5% | 21/998 2% |
| Plasma Cell Myeloma | 4/44 9% | 3/305 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Hepatocellular Carcinoma | 0/46 0% | 40/2210 2% |
| Adrenocortical Carcinoma | 2/3 67% | 0/112 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 26/1592 2% |
| Head and Neck Carcinoma | 5/85 6% | 20/1574 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 37/2550 1% |
| Esophageal Carcinoma | 0/23 0% | 11/769 1% |
| Non-Cancerous | 0/104 0% | 13/830 2% |
| Burkitts Lymphoma | 2/32 6% | 1/196 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Other Sarcomas | 2/69 3% | 7/699 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Neuroendocrine Tumour | 0/154 0% | 7/577 1% |
Mutation Distribution
Where PRDM16 is mutated · all tissues, split by cell line vs tissue
How many mutations in PRDM16 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 3,749 mutations in PRDM16
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 |
|---|