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 | 2,813 | 396 | 2,353 |
| Samples | 512 | 102 | 398 |
| Peptides | 415 | 69 | 364 |
Function
DNMT3B · DNA methyltransferase 3 beta
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011].
Isoforms & Proteins
6 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 363 amino-acid changes on canonical ENST00000328111 · 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 DNMT3B · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DNMT3B – 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-Lymphoblastic Leukemia | 5/40 12% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 27/612 4% |
| Colorectal Carcinoma | 29/143 20% | 81/3239 2% |
| Melanoma | 6/210 3% | 56/1899 3% |
| Gastric Carcinoma | 2/74 3% | 38/1809 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 12/810 1% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 21/1390 2% |
| Other Solid Cancers | 2/94 2% | 21/1515 1% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Other Sarcomas | 1/69 1% | 8/699 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 11/956 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Ovarian Carcinoma | 5/109 5% | 5/998 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hepatocellular Carcinoma | 0/46 0% | 17/2210 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 16/2550 1% |
| Head and Neck Carcinoma | 0/85 0% | 12/1574 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 3/752 0% |
| Glioma | 0/52 0% | 13/2127 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Non-Cancerous | 1/104 1% | 4/830 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Prostate Carcinoma | 0/13 0% | 10/2105 0% |
| Pancreatic Carcinoma | 3/89 3% | 5/1611 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
Mutation Distribution
Where DNMT3B is mutated · all tissues, split by cell line vs tissue
How many mutations in DNMT3B 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 2,813 mutations in DNMT3B
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 |
|---|