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 | 480 | 73 | 400 |
| Samples | 238 | 41 | 194 |
| Peptides | 184 | 31 | 158 |
Function
DNMT3L · DNA methyltransferase 3 like
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 nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012].
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 176 amino-acid changes on canonical ENST00000628202 · 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 DNMT3L · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DNMT3L – 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 | 4/40 10% | 0/0 0% |
| Melanoma | 4/210 2% | 44/1899 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 11/612 2% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 12/1390 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Colorectal Carcinoma | 6/143 4% | 24/3239 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Gastric Carcinoma | 0/74 0% | 13/1809 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Other Sarcomas | 1/69 1% | 3/699 0% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Neuroendocrine Tumour | 3/154 2% | 0/577 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 10/2550 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Hepatocellular Carcinoma | 1/46 2% | 7/2210 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Head and Neck Carcinoma | 1/85 1% | 3/1574 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Breast Carcinoma | 1/144 1% | 6/3264 0% |
| Neuroblastoma | 2/87 2% | 1/1331 0% |
| Prostate Carcinoma | 0/13 0% | 4/2105 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 3/2534 0% |
| B-Lymphoblastic Leukemia | 3/55 5% | 0/2640 0% |
Mutation Distribution
Where DNMT3L is mutated · all tissues, split by cell line vs tissue
How many mutations in DNMT3L 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 4 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 480 mutations in DNMT3L
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 |
|---|