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 | 4,443 | 633 | 3,744 |
| Samples | 1,114 | 215 | 881 |
| Peptides | 895 | 153 | 751 |
Function
MYLK · Myosin light chain kinase
This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
12 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 |
|---|---|---|---|
| ENST00000360304 | Q15746 | 1,329 | 854 |
| ENST00000360772 | Q15746-3 | 1,136 | 748 |
| ENST00000346322 | Q15746-4 | 1,012 | 652 |
| ENST00000693689 | Q15746-2 | 796 | 513 |
| ENST00000418370 | Q15746-8 | 65 | 53 |
| ENST00000583087 | Q15746-8 | 57 | 48 |
| ENST00000685744 | Q15746-10 | 29 | 23 |
| ENST00000578202 | A0A8J9G5A3* | 13 | 12 |
| ENST00000686039 | A0A8I5KUH4* | 3 | 3 |
| ENST00000508240 | Q15746-9 | 1 | 1 |
| ENST00000685021 | Q15746-7 | 1 | 1 |
| ENST00000686761 | Q15746 | 1 | 1 |
Gene Properties
Recurrent Mutations
All 854 amino-acid changes on canonical ENST00000360304 · 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 MYLK · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MYLK – 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% |
| Endometrial Carcinoma | 15/42 36% | 51/612 8% |
| Melanoma | 20/210 10% | 161/1899 8% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 10/133 8% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 32/810 4% |
| Gastric Carcinoma | 5/74 7% | 72/1809 4% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 19/304 6% | 44/1390 3% |
| Bladder Carcinoma | 5/58 9% | 31/956 3% |
| Colorectal Carcinoma | 22/143 15% | 92/3239 3% |
| Other Solid Cancers | 3/94 3% | 48/1515 3% |
| Other Sarcomas | 7/69 10% | 12/699 2% |
| Esophageal Squamous Cell Carcinoma | 11/51 22% | 51/2550 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 18/752 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Mesothelioma | 3/62 5% | 2/165 1% |
| Ewings Sarcoma | 3/63 5% | 4/262 2% |
| Ovarian Carcinoma | 7/109 6% | 15/998 2% |
| Head and Neck Carcinoma | 12/85 14% | 20/1574 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 29/1592 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 6/422 1% |
| Biliary Tract Carcinoma | 0/54 0% | 17/950 2% |
| Neuroendocrine Tumour | 8/154 5% | 4/577 1% |
| Esophageal Carcinoma | 2/23 9% | 11/769 1% |
| Non-Cancerous | 0/104 0% | 15/830 2% |
| Meningioma | 0/3 0% | 4/252 2% |
| Germ Cell Tumour | 1/25 4% | 2/169 1% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
Mutation Distribution
Where MYLK is mutated · all tissues, split by cell line vs tissue
How many mutations in MYLK 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 4,443 mutations in MYLK
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 |
|---|