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 | 880 | 128 | 740 |
| Samples | 314 | 65 | 245 |
| Peptides | 245 | 48 | 210 |
Function
GCK · Glucokinase
This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000403799 | P35557 | 317 | 213 |
| ENST00000345378 | P35557-2 | 275 | 192 |
| ENST00000437084 | C9JQD1* | 272 | 191 |
| ENST00000616242 | A0A8C8PZE6* | 14 | 9 |
| ENST00000294066 | Q12851 | 2 | 1 |
Gene Properties
Recurrent Mutations
All 213 amino-acid changes on canonical ENST00000403799 · 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 GCK · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GCK – 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 | 3/40 8% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Melanoma | 6/210 3% | 44/1899 2% |
| Endometrial Carcinoma | 3/42 7% | 10/612 2% |
| Non-Small Cell Lung Carcinoma | 15/304 5% | 14/1390 1% |
| Colorectal Carcinoma | 11/143 8% | 42/3239 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 13/810 2% |
| Gastric Carcinoma | 2/74 3% | 18/1809 1% |
| Neuroendocrine Tumour | 4/154 3% | 3/577 1% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Bladder Carcinoma | 3/58 5% | 4/956 0% |
| Cervical Carcinoma | 1/35 3% | 2/422 0% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Glioma | 1/52 2% | 10/2127 0% |
| Head and Neck Carcinoma | 2/85 2% | 6/1574 0% |
| Pancreatic Carcinoma | 0/89 0% | 8/1611 0% |
| Prostate Carcinoma | 3/13 23% | 7/2105 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 9/2550 0% |
| Hepatocellular Carcinoma | 2/46 4% | 7/2210 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Breast Carcinoma | 0/144 0% | 9/3264 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 2/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 3/2534 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
| Other Blood Cancers | 1/61 2% | 2/2725 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
Mutation Distribution
Where GCK is mutated · all tissues, split by cell line vs tissue
How many mutations in GCK 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 880 mutations in GCK
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 |
|---|