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 | 1,316 | 194 | 1,120 |
| Samples | 187 | 46 | 140 |
| Peptides | 167 | 35 | 131 |
Function
HARS2 · Histidyl-tRNA synthetase 2, mitochondrial
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013].
Isoforms & Proteins
10 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 |
|---|---|---|---|
| ENST00000230771 | P49590 | 192 | 141 |
| ENST00000645065 | A0A2R8Y5P7* | 164 | 127 |
| ENST00000645749 | P49590 | 164 | 127 |
| ENST00000642752 | A0A2R8Y3N3* | 152 | 116 |
| ENST00000508522 | P49590-2 | 150 | 117 |
| ENST00000642970 | A0A2R8Y6I1* | 136 | 109 |
| ENST00000643996 | A0A2R8Y6I1* | 136 | 109 |
| ENST00000503873 | D6RB22* | 125 | 99 |
| ENST00000448069 | B4DQ67* | 94 | 79 |
| ENST00000377452 | Q8TEA8 | 3 | 3 |
Gene Properties
Recurrent Mutations
All 141 amino-acid changes on canonical ENST00000230771 · 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 HARS2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HARS2 – 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% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 14/612 2% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 7/1390 0% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Colorectal Carcinoma | 8/143 6% | 21/3239 1% |
| Melanoma | 2/210 1% | 14/1899 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 16/2550 1% |
| Non-Cancerous | 2/104 2% | 4/830 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 3/810 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Other Solid Cancers | 0/94 0% | 8/1515 1% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Gastric Carcinoma | 0/74 0% | 8/1809 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Kidney Carcinoma | 2/85 2% | 3/1862 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Pancreatic Carcinoma | 0/89 0% | 4/1611 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Breast Carcinoma | 5/144 3% | 2/3264 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
Mutation Distribution
Where HARS2 is mutated · all tissues, split by cell line vs tissue
How many mutations in HARS2 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 1,316 mutations in HARS2
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 |
|---|