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 | 2,493 | 171 | 2,278 |
| Samples | 238 | 30 | 203 |
| Peptides | 205 | 23 | 183 |
Function
RAD17 · RAD17 checkpoint clamp loader component
The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013].
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 |
|---|---|---|---|
| ENST00000354868 | O75943-2 | 251 | 187 |
| ENST00000380774 | O75943 | 241 | 185 |
| ENST00000509734 | O75943 | 241 | 185 |
| ENST00000305138 | O75943-2 | 236 | 181 |
| ENST00000345306 | O75943-2 | 236 | 181 |
| ENST00000354312 | O75943-2 | 236 | 181 |
| ENST00000361732 | O75943-2 | 236 | 181 |
| ENST00000616683 | O75943-2 | 236 | 181 |
| ENST00000282891 | O75943-4 | 203 | 154 |
| ENST00000358030 | O75943-3 | 187 | 140 |
| ENST00000521422 | O75943-3 | 187 | 140 |
| ENST00000610584 | A0A0G2JPT5* | 3 | 3 |
Gene Properties
Recurrent Mutations
All 187 amino-acid changes on canonical ENST00000354868 · 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 RAD17 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RAD17 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Endometrial Carcinoma | 1/42 2% | 15/612 2% |
| Cervical Carcinoma | 1/35 3% | 6/422 1% |
| Mesothelioma | 2/62 3% | 1/165 1% |
| Colorectal Carcinoma | 3/143 2% | 38/3239 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Gastric Carcinoma | 2/74 3% | 17/1809 1% |
| Melanoma | 3/210 1% | 18/1899 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Other Solid Cancers | 2/94 2% | 8/1515 1% |
| Glioma | 0/52 0% | 13/2127 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 6/1390 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Head and Neck Carcinoma | 1/85 1% | 6/1574 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Breast Carcinoma | 2/144 1% | 10/3264 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Biliary Tract Carcinoma | 1/54 2% | 1/950 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 4/2550 0% |
Mutation Distribution
Where RAD17 is mutated · all tissues, split by cell line vs tissue
How many mutations in RAD17 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 2,493 mutations in RAD17
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 |
|---|