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 | 47 | 25 | 0 |
| Samples | 33 | 24 | 0 |
| Peptides | 47 | 25 | 0 |
Function
HARS1 · Histidyl-tRNA synthetase 1
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012].
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 |
|---|---|---|---|
| ENST00000504156 | P12081 | 43 | 43 |
| ENST00000415192 | B4DDD8* | 1 | 1 |
| ENST00000431330 | B4E1C5* | 1 | 1 |
| ENST00000457527 | P12081-4 | 1 | 1 |
| ENST00000675698 | A0A6Q8PF07* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 43 amino-acid changes on canonical ENST00000504156 · 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 HARS1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HARS1 – 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% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 1/612 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Colorectal Carcinoma | 4/143 3% | 2/3239 0% |
| Kidney Carcinoma | 3/85 4% | 0/1862 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 1/1390 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 0/2534 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| Breast Carcinoma | 1/144 1% | 1/3264 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 0/1592 0% |
| Other Solid Cancers | 1/94 1% | 0/1515 0% |
| Melanoma | 1/210 0% | 0/1899 0% |
| Gastric Carcinoma | 0/74 0% | 1/1809 0% |
| Prostate Carcinoma | 1/13 8% | 0/2105 0% |
Mutation Distribution
Where HARS1 is mutated · all tissues, split by cell line vs tissue
How many mutations in HARS1 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.
Mutations
All 47 mutations in HARS1
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 |
|---|