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 | 2,666 | 394 | 2,236 |
| Samples | 854 | 147 | 695 |
| Peptides | 568 | 126 | 471 |
Function
AR · Androgen receptor
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017].
Isoforms & Proteins
6 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 |
|---|---|---|---|
| ENST00000374690 | P10275 | 934 | 511 |
| ENST00000396044 | F5GZG9* | 689 | 361 |
| ENST00000504326 | P10275-3 | 551 | 309 |
| ENST00000613054 | A0A087WUX9* | 458 | 251 |
| ENST00000612452 | P10275 | 22 | 19 |
| ENST00000396043 | A0A7I2PS51* | 12 | 11 |
Gene Properties
Recurrent Mutations
All 511 amino-acid changes on canonical ENST00000374690 · 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 AR · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AR – 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 | 5/42 12% | 31/612 5% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Colorectal Carcinoma | 19/143 13% | 137/3239 4% |
| Prostate Carcinoma | 5/13 38% | 84/2105 4% |
| 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% |
| Gastric Carcinoma | 7/74 9% | 62/1809 3% |
| Hodgkins Lymphoma | 2/16 12% | 3/122 2% |
| Non-Small Cell Lung Carcinoma | 26/304 9% | 30/1390 2% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Melanoma | 8/210 4% | 56/1899 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 17/810 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 18/752 2% |
| Other Solid Cancers | 3/94 3% | 34/1515 2% |
| Cervical Carcinoma | 2/35 6% | 8/422 2% |
| Neuroendocrine Tumour | 10/154 6% | 3/577 1% |
| Bladder Carcinoma | 2/58 3% | 14/956 1% |
| Ovarian Carcinoma | 6/109 6% | 11/998 1% |
| Esophageal Carcinoma | 0/23 0% | 12/769 2% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Ewings Sarcoma | 4/63 6% | 0/262 0% |
| Biliary Tract Carcinoma | 2/54 4% | 10/950 1% |
| Thyroid Gland Carcinoma | 4/45 9% | 15/1592 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 26/2550 1% |
| Hepatocellular Carcinoma | 2/46 4% | 22/2210 1% |
| Breast Carcinoma | 8/144 6% | 27/3264 1% |
| Head and Neck Carcinoma | 0/85 0% | 17/1574 1% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
Mutation Distribution
Where AR is mutated · all tissues, split by cell line vs tissue
How many mutations in AR 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 2,666 mutations in AR
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 |
|---|