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 | 3,339 | 649 | 2,593 |
| Samples | 2,568 | 458 | 2,069 |
| Peptides | 2,335 | 409 | 1,931 |
Function
KMT2D · Lysine methyltransferase 2D
The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000301067 | O14686 | 3,328 | 2,326 |
| ENST00000683543 | A0A804HHR9* | 11 | 11 |
Gene Properties
Recurrent Mutations
All 2327 amino-acid changes on canonical ENST00000301067 · 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 KMT2D · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KMT2D – 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 | 20/40 50% | 0/0 0% |
| Chronic Myelogenous Leukemia | 9/25 36% | 0/0 0% |
| Oral Cavity Carcinoma | 11/54 20% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 5/26 19% | 0/0 0% |
| Endometrial Carcinoma | 21/42 50% | 89/612 15% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 18/133 14% |
| Melanoma | 37/210 18% | 248/1899 13% |
| Acute Myeloid Leukemia | 10/90 11% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 79/810 10% |
| Other Solid Cancers | 11/94 12% | 130/1515 9% |
| Hodgkins Lymphoma | 5/16 31% | 7/122 6% |
| Cervical Carcinoma | 5/35 14% | 34/422 8% |
| Colorectal Carcinoma | 43/143 30% | 245/3239 8% |
| Gastric Carcinoma | 17/74 23% | 143/1809 8% |
| Bladder Carcinoma | 7/58 12% | 78/956 8% |
| Glioblastoma | 8/98 8% | 0/0 0% |
| Thymic Epithelial Tumor | 0/0 0% | 3/39 8% |
| Burkitts Lymphoma | 5/32 16% | 12/196 6% |
| Non-Small Cell Lung Carcinoma | 39/304 13% | 74/1390 5% |
| Esophageal Squamous Cell Carcinoma | 13/51 25% | 155/2550 6% |
| Small Cell Lung Carcinoma | 3/9 33% | 42/752 6% |
| Other Sarcomas | 15/69 22% | 28/699 4% |
| Germ Cell Tumour | 5/25 20% | 5/169 3% |
| Unknown | 0/10 0% | 2/29 7% |
| Head and Neck Carcinoma | 12/85 14% | 68/1574 4% |
| Neuroendocrine Tumour | 18/154 12% | 16/577 3% |
| Plasma Cell Myeloma | 8/44 18% | 7/305 2% |
| Ovarian Carcinoma | 19/109 17% | 28/998 3% |
| Biliary Tract Carcinoma | 8/54 15% | 34/950 4% |
| Mesothelioma | 5/62 8% | 4/165 2% |
Mutation Distribution
Where KMT2D is mutated · all tissues, split by cell line vs tissue
How many mutations in KMT2D 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 3,339 mutations in KMT2D
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 |
|---|