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 | 1,048 | 126 | 907 |
| Samples | 959 | 122 | 825 |
| Peptides | 574 | 80 | 503 |
Function
KIT · KIT proto-oncogene, receptor tyrosine kinase
This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an N-terminal extracellular region with five immunoglobulin-like domains, a transmembrane region, and an intracellular tyrosine kinase domain at the C-terminus. Upon activation by its cytokine ligand, stem cell factor (SCF), this protein phosphorylates multiple intracellular proteins that play a role in in the proliferation, differentiation, migration and apoptosis of many cell types and thereby plays an important role in hematopoiesis, stem cell maintenance, gametogenesis, melanogenesis, and in mast cell development, migration and function. This protein can be a membrane-bound or soluble protein. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020].
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 |
|---|---|---|---|
| ENST00000288135 | P10721 | 1,044 | 571 |
| ENST00000687295 | P10721-2 | 2 | 2 |
| ENST00000689994 | A0A8I5KRE7* | 2 | 2 |
Gene Properties
Recurrent Mutations
All 571 amino-acid changes on canonical ENST00000288135 · 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 KIT · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KIT – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 58/133 44% |
| Germ Cell Tumour | 1/25 4% | 17/169 10% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 34/612 6% |
| Melanoma | 7/210 3% | 104/1899 5% |
| Hodgkins Lymphoma | 6/16 38% | 0/122 0% |
| Other Blood Cancers | 1/61 2% | 108/2725 4% |
| Colorectal Carcinoma | 18/143 13% | 90/3239 3% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 22/810 3% |
| Other Solid Cancers | 4/94 4% | 40/1515 3% |
| Gastric Carcinoma | 5/74 7% | 44/1809 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 18/752 2% |
| Non-Small Cell Lung Carcinoma | 17/304 6% | 22/1390 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Hepatocellular Carcinoma | 2/46 4% | 44/2210 2% |
| Cervical Carcinoma | 0/35 0% | 9/422 2% |
| Bladder Carcinoma | 0/58 0% | 20/956 2% |
| Neuroendocrine Tumour | 4/154 3% | 10/577 2% |
| Ovarian Carcinoma | 3/109 3% | 16/998 2% |
| Glioma | 1/52 2% | 28/2127 1% |
| Head and Neck Carcinoma | 2/85 2% | 20/1574 1% |
| Other Sarcomas | 1/69 1% | 9/699 1% |
| Biliary Tract Carcinoma | 1/54 2% | 12/950 1% |
| Esophageal Carcinoma | 0/23 0% | 9/769 1% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 21/2534 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
Mutation Distribution
Where KIT is mutated · all tissues, split by cell line vs tissue
How many mutations in KIT 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 1,048 mutations in KIT
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 |
|---|