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 | 3,561 | 628 | 2,868 |
| Samples | 2,715 | 470 | 2,209 |
| Peptides | 2,236 | 413 | 1,884 |
Function
KMT2C · Lysine methyltransferase 2C
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008].
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.
Gene Properties
Recurrent Mutations
All 2232 amino-acid changes on canonical ENST00000262189 · 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 KMT2C · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KMT2C – 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 | 16/40 40% | 0/0 0% |
| Glioblastoma | 15/98 15% | 0/0 0% |
| Endometrial Carcinoma | 17/42 40% | 77/612 13% |
| Non-Small Cell Lung Carcinoma | 46/304 15% | 159/1390 11% |
| Melanoma | 36/210 17% | 212/1899 11% |
| Oral Cavity Carcinoma | 6/54 11% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 10/57 18% | 78/810 10% |
| Cervical Carcinoma | 2/35 6% | 43/422 10% |
| Bladder Carcinoma | 12/58 21% | 84/956 9% |
| Colorectal Carcinoma | 62/143 43% | 249/3239 8% |
| Other Solid Cancers | 7/94 7% | 132/1515 9% |
| Acute Myeloid Leukemia | 7/90 8% | 0/0 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 57/752 8% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Gastric Carcinoma | 11/74 15% | 123/1809 7% |
| Neuroendocrine Tumour | 28/154 18% | 23/577 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 9/133 7% |
| Hodgkins Lymphoma | 6/16 38% | 3/122 2% |
| Burkitts Lymphoma | 10/32 31% | 2/196 1% |
| Ovarian Carcinoma | 14/109 13% | 43/998 4% |
| Thyroid Gland Carcinoma | 4/45 9% | 79/1592 5% |
| Chordoma | 1/7 14% | 0/13 0% |
| Other Sarcomas | 10/69 14% | 26/699 4% |
| Hepatocellular Carcinoma | 5/46 11% | 95/2210 4% |
| Esophageal Carcinoma | 2/23 9% | 33/769 4% |
| Breast Carcinoma | 26/144 18% | 123/3264 4% |
| Germ Cell Tumour | 2/25 8% | 6/169 4% |
| Rhabdomyosarcoma | 3/33 9% | 5/171 3% |
| Meningioma | 0/3 0% | 10/252 4% |
| B-Cell Non-Hodgkins Lymphoma | 7/88 8% | 95/2534 4% |
Mutation Distribution
Where KMT2C is mutated · all tissues, split by cell line vs tissue
How many mutations in KMT2C 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 3,561 mutations in KMT2C
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 |
|---|