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 | 1,042 | 184 | 847 |
| Samples | 519 | 112 | 400 |
| Peptides | 416 | 79 | 342 |
Function
HR · HR lysine demethylase and nuclear receptor corepressor
This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014].
Isoforms & Proteins
2 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.
Gene Properties
Recurrent Mutations
All 407 amino-acid changes on canonical ENST00000381418 · 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 HR · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HR – 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 | 8/40 20% | 0/0 0% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 26/612 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Melanoma | 15/210 7% | 59/1899 3% |
| Non-Small Cell Lung Carcinoma | 19/304 6% | 21/1390 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Colorectal Carcinoma | 14/143 10% | 55/3239 2% |
| Rhabdomyosarcoma | 1/33 3% | 3/171 2% |
| Other Solid Cancers | 3/94 3% | 28/1515 2% |
| Gastric Carcinoma | 3/74 4% | 32/1809 2% |
| Non-Cancerous | 2/104 2% | 11/830 1% |
| Neuroendocrine Tumour | 6/154 4% | 3/577 1% |
| Thyroid Gland Carcinoma | 4/45 9% | 16/1592 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 7/810 1% |
| Other Sarcomas | 0/69 0% | 8/699 1% |
| Biliary Tract Carcinoma | 1/54 2% | 9/950 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Hepatocellular Carcinoma | 0/46 0% | 20/2210 1% |
| Bladder Carcinoma | 1/58 2% | 8/956 1% |
| Esophageal Carcinoma | 2/23 9% | 5/769 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Ovarian Carcinoma | 3/109 3% | 4/998 0% |
| Glioma | 3/52 6% | 10/2127 0% |
| Head and Neck Carcinoma | 1/85 1% | 9/1574 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 11/2534 0% |
Mutation Distribution
Where HR is mutated · all tissues, split by cell line vs tissue
How many mutations in HR 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 1,042 mutations in HR
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 |
|---|