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 | 534 | 60 | 472 |
| Samples | 258 | 37 | 220 |
| Peptides | 159 | 20 | 145 |
Function
AKR1C4 · Aldo-keto reductase family 1 member C4
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008].
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 159 amino-acid changes on canonical ENST00000263126 · 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 AKR1C4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AKR1C4 – 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 | 3/40 8% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Melanoma | 3/210 1% | 52/1899 3% |
| Endometrial Carcinoma | 0/42 0% | 14/612 2% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Bladder Carcinoma | 1/58 2% | 11/956 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Other Solid Cancers | 0/94 0% | 16/1515 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 14/1390 1% |
| Neuroendocrine Tumour | 2/154 1% | 4/577 1% |
| Ovarian Carcinoma | 2/109 2% | 7/998 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Colorectal Carcinoma | 6/143 4% | 16/3239 0% |
| Gastric Carcinoma | 1/74 1% | 10/1809 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Breast Carcinoma | 6/144 4% | 10/3264 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Hepatocellular Carcinoma | 2/46 4% | 7/2210 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 2/810 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 4/1592 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 7/2534 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
Mutation Distribution
Where AKR1C4 is mutated · all tissues, split by cell line vs tissue
How many mutations in AKR1C4 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 29 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 534 mutations in AKR1C4
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 |
|---|