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 | 142 | 47 | 93 |
| Samples | 132 | 40 | 90 |
| Peptides | 99 | 24 | 76 |
Function
RNASEH1 · Ribonuclease H1
This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [provided by RefSeq, Jul 2017].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000315212 | O60930 | 142 | 99 |
Gene Properties
Recurrent Mutations
All 99 amino-acid changes on canonical ENST00000315212 · 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 RNASEH1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RNASEH1 – 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 |
|---|---|---|
| Endometrial Carcinoma | 2/42 5% | 6/612 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 11/1390 1% |
| Bladder Carcinoma | 3/58 5% | 5/956 1% |
| Colorectal Carcinoma | 10/143 7% | 10/3239 0% |
| Neuroendocrine Tumour | 3/154 2% | 1/577 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Melanoma | 0/210 0% | 9/1899 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Neuroblastoma | 5/87 6% | 0/1331 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Kidney Carcinoma | 2/85 2% | 2/1862 0% |
| Gastric Carcinoma | 1/74 1% | 3/1809 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
| Breast Carcinoma | 3/144 2% | 2/3264 0% |
| Prostate Carcinoma | 2/13 15% | 1/2105 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 1/2550 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Other Blood Cancers | 1/61 2% | 2/2725 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
Mutation Distribution
Where RNASEH1 is mutated · all tissues, split by cell line vs tissue
How many mutations in RNASEH1 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 142 mutations in RNASEH1
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 |
|---|