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 | 57 | 5 | 52 |
| Samples | 55 | 5 | 50 |
| Peptides | 36 | 5 | 31 |
Function
HEPN1 · Hepatocellular carcinoma, down-regulated 1
This gene is expressed predominantly in the liver. Transient transfection studies show the expression of this gene significantly inhibits cell growth, suggesting a role for this gene in apoptosis. Expression of this gene is down-regulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). This gene maps to the 3'-noncoding region of the HEPACAM gene (GeneID:220296) on the antisense strand. [provided by RefSeq, Aug 2020].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000408930 | Q6WQI6 | 57 | 36 |
Gene Properties
Recurrent Mutations
All 36 amino-acid changes on canonical ENST00000408930 · 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 HEPN1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HEPN1 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Neuroendocrine Tumour | 0/154 0% | 4/577 1% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Endometrial Carcinoma | 0/42 0% | 2/612 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Melanoma | 0/210 0% | 6/1899 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Colorectal Carcinoma | 3/143 2% | 4/3239 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 3/1390 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 2/2534 0% |
| Gastric Carcinoma | 0/74 0% | 2/1809 0% |
| Ovarian Carcinoma | 1/109 1% | 0/998 0% |
| Head and Neck Carcinoma | 0/85 0% | 1/1574 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
| Hepatocellular Carcinoma | 0/46 0% | 1/2210 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 1/2640 0% |
Mutation Distribution
Where HEPN1 is mutated · all tissues, split by cell line vs tissue
How many mutations in HEPN1 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.
Mutations
All 57 mutations in HEPN1
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 |
|---|