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 | 334 | 54 | 276 |
| Samples | 168 | 34 | 130 |
| Peptides | 134 | 26 | 105 |
Function
HSD17B1 · Hydroxysteroid 17-beta dehydrogenase 1
This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].
Isoforms & Proteins
3 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 |
|---|---|---|---|
| ENST00000585807 | P14061 | 178 | 126 |
| ENST00000225929 | A0A0A0MQS7* | 155 | 115 |
| ENST00000590299 | B4DU11* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 126 amino-acid changes on canonical ENST00000585807 · 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 HSD17B1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HSD17B1 – 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 | 4/40 10% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Colorectal Carcinoma | 7/143 5% | 41/3239 1% |
| Endometrial Carcinoma | 2/42 5% | 7/612 1% |
| Burkitts Lymphoma | 0/32 0% | 3/196 2% |
| Biliary Tract Carcinoma | 1/54 2% | 6/950 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 5/810 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 9/1390 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Gastric Carcinoma | 1/74 1% | 7/1809 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Neuroblastoma | 2/87 2% | 3/1331 0% |
| Melanoma | 0/210 0% | 7/1899 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 5/1592 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Other Solid Cancers | 1/94 1% | 4/1515 0% |
| Pancreatic Carcinoma | 2/89 2% | 2/1611 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| Esophageal Carcinoma | 1/23 4% | 0/769 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 1/2550 0% |
Mutation Distribution
Where HSD17B1 is mutated · all tissues, split by cell line vs tissue
How many mutations in HSD17B1 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 334 mutations in HSD17B1
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 |
|---|