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 | 3,240 | 237 | 2,977 |
| Samples | 598 | 74 | 517 |
| Peptides | 358 | 54 | 310 |
Function
CHEK2 · Checkpoint kinase 2
In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012].
Isoforms & Proteins
8 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 |
|---|---|---|---|
| ENST00000404276 | O96017 | 681 | 288 |
| ENST00000382580 | O96017-9 | 659 | 290 |
| ENST00000405598 | O96017 | 636 | 274 |
| ENST00000348295 | O96017-12 | 606 | 255 |
| ENST00000403642 | O96017-4 | 551 | 217 |
| ENST00000402731 | A0A7P0MUT5* | 104 | 80 |
| ENST00000434810 | H0Y820* | 2 | 2 |
| ENST00000711048 | A0AA34QVK6* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 288 amino-acid changes on canonical ENST00000404276 · 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 CHEK2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CHEK2 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Glioma | 0/52 0% | 105/2127 5% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Endometrial Carcinoma | 4/42 10% | 19/612 3% |
| Colorectal Carcinoma | 20/143 14% | 70/3239 2% |
| Adrenocortical Carcinoma | 0/3 0% | 3/112 3% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 31/1390 2% |
| Meningioma | 1/3 33% | 5/252 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 7/422 2% |
| Bladder Carcinoma | 2/58 3% | 17/956 2% |
| Other Solid Cancers | 0/94 0% | 28/1515 2% |
| Melanoma | 4/210 2% | 31/1899 2% |
| Ovarian Carcinoma | 1/109 1% | 16/998 2% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 30/2550 1% |
| Kidney Carcinoma | 2/85 2% | 19/1862 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 8/810 1% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Neuroendocrine Tumour | 3/154 2% | 4/577 1% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
| Esophageal Carcinoma | 1/23 4% | 6/769 1% |
| Head and Neck Carcinoma | 1/85 1% | 13/1574 1% |
| Gastric Carcinoma | 3/74 4% | 12/1809 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Prostate Carcinoma | 2/13 15% | 14/2105 1% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 14/2534 1% |
Mutation Distribution
Where CHEK2 is mutated · all tissues, split by cell line vs tissue
How many mutations in CHEK2 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 3,240 mutations in CHEK2
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 |
|---|