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 | 3,090 | 392 | 2,616 |
| Samples | 1,329 | 225 | 1,076 |
| Peptides | 1,278 | 189 | 1,079 |
Function
KMT2A · Lysine methyltransferase 2A
This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010].
Isoforms & Proteins
3 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 |
|---|---|---|---|
| ENST00000534358 | Q03164-3 | 1,621 | 1,254 |
| ENST00000389506 | Q03164 | 1,466 | 1,188 |
| ENST00000710560 | A0AA34QVI8* | 3 | 3 |
Gene Properties
Recurrent Mutations
All 1254 amino-acid changes on canonical ENST00000534358 · 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 KMT2A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KMT2A – 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 | 14/40 35% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 53/612 9% |
| Melanoma | 15/210 7% | 164/1899 9% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 54/956 6% |
| Colorectal Carcinoma | 21/143 15% | 146/3239 5% |
| Gastric Carcinoma | 8/74 11% | 80/1809 4% |
| Other Solid Cancers | 5/94 5% | 66/1515 4% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 31/810 4% |
| Non-Small Cell Lung Carcinoma | 16/304 5% | 55/1390 4% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Plasma Cell Myeloma | 6/44 14% | 5/305 2% |
| Ovarian Carcinoma | 8/109 7% | 26/998 3% |
| Cervical Carcinoma | 2/35 6% | 12/422 3% |
| Esophageal Carcinoma | 0/23 0% | 24/769 3% |
| Small Cell Lung Carcinoma | 1/9 11% | 21/752 3% |
| Non-Cancerous | 3/104 3% | 22/830 3% |
| Neuroendocrine Tumour | 10/154 6% | 9/577 2% |
| Germ Cell Tumour | 3/25 12% | 2/169 1% |
| Head and Neck Carcinoma | 7/85 8% | 31/1574 2% |
| Other Sarcomas | 3/69 4% | 14/699 2% |
| Biliary Tract Carcinoma | 2/54 4% | 20/950 2% |
| Burkitts Lymphoma | 4/32 12% | 1/196 1% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Hepatocellular Carcinoma | 1/46 2% | 48/2210 2% |
| Ewings Sarcoma | 5/63 8% | 1/262 0% |
| Mesothelioma | 4/62 6% | 0/165 0% |
Mutation Distribution
Where KMT2A is mutated · all tissues, split by cell line vs tissue
How many mutations in KMT2A 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 3,090 mutations in KMT2A
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 |
|---|