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 | 4,246 | 505 | 3,679 |
| Samples | 1,759 | 270 | 1,467 |
| Peptides | 1,391 | 195 | 1,218 |
Function
ATM · ATM serine/threonine kinase
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010].
Isoforms & Proteins
9 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 |
|---|---|---|---|
| ENST00000452508 | Q13315 | 1,890 | 1,336 |
| ENST00000278616 | Q13315 | 1,874 | 1,321 |
| ENST00000675843 | Q13315 | 153 | 141 |
| ENST00000530958 | A0A087X0E9* | 80 | 60 |
| ENST00000526567 | A0ACM8Q3F6* | 61 | 45 |
| ENST00000639240 | A0ACM8Q3F6* | 61 | 45 |
| ENST00000639953 | A0ACM8Q3F6* | 61 | 45 |
| ENST00000640388 | A0ACM8Q3F6* | 61 | 45 |
| ENST00000601453 | M0QXY8* | 5 | 5 |
Gene Properties
Recurrent Mutations
All 1336 amino-acid changes on canonical ENST00000452508 · 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 ATM · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ATM – 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 | 7/40 18% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 65/612 11% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Bladder Carcinoma | 7/58 12% | 66/956 7% |
| B-Cell Non-Hodgkins Lymphoma | 11/88 12% | 166/2534 7% |
| Colorectal Carcinoma | 38/143 27% | 189/3239 6% |
| Non-Small Cell Lung Carcinoma | 43/304 14% | 67/1390 5% |
| Neuroendocrine Tumour | 16/154 10% | 27/577 5% |
| Melanoma | 6/210 3% | 115/1899 6% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Plasma Cell Myeloma | 7/44 16% | 12/305 4% |
| Squamous Cell Lung Carcinoma | 18/57 32% | 29/810 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Gastric Carcinoma | 6/74 8% | 76/1809 4% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Small Cell Lung Carcinoma | 1/9 11% | 27/752 4% |
| Hepatocellular Carcinoma | 5/46 11% | 69/2210 3% |
| Hodgkins Lymphoma | 0/16 0% | 4/122 3% |
| Ovarian Carcinoma | 12/109 11% | 19/998 2% |
| Non-Cancerous | 3/104 3% | 23/830 3% |
| Other Solid Cancers | 2/94 2% | 42/1515 3% |
| Head and Neck Carcinoma | 5/85 6% | 40/1574 3% |
| Pancreatic Carcinoma | 7/89 8% | 38/1611 2% |
| Mesothelioma | 5/62 8% | 1/165 1% |
| Prostate Carcinoma | 2/13 15% | 53/2105 3% |
| Thyroid Gland Carcinoma | 2/45 4% | 39/1592 2% |
| Breast Carcinoma | 14/144 10% | 69/3264 2% |
| Biliary Tract Carcinoma | 0/54 0% | 23/950 2% |
| Kidney Carcinoma | 4/85 5% | 40/1862 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
Mutation Distribution
Where ATM is mutated · all tissues, split by cell line vs tissue
How many mutations in ATM 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 4,246 mutations in ATM
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 |
|---|