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 | 2,737 | 557 | 2,116 |
| Samples | 2,130 | 421 | 1,667 |
| Peptides | 1,811 | 335 | 1,500 |
Function
HERC2 · HECT and RLD domain containing E3 ubiquitin protein ligase 2
This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012].
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 |
|---|---|---|---|
| ENST00000261609 | O95714 | 2,734 | 1,808 |
| ENST00000632916 | A0A0J9YVP0* | 2 | 2 |
| ENST00000633685 | A0A0J9YXQ8* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 1808 amino-acid changes on canonical ENST00000261609 · 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 HERC2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HERC2 – 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 | 11/40 28% | 0/0 0% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Endometrial Carcinoma | 19/42 45% | 80/612 13% |
| Non-Small Cell Lung Carcinoma | 53/304 17% | 126/1390 9% |
| Glioblastoma | 10/98 10% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 14/57 25% | 70/810 9% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Melanoma | 37/210 18% | 151/1899 8% |
| Colorectal Carcinoma | 45/143 31% | 226/3239 7% |
| Hodgkins Lymphoma | 5/16 31% | 5/122 4% |
| Gastric Carcinoma | 10/74 14% | 125/1809 7% |
| Other Solid Cancers | 10/94 11% | 89/1515 6% |
| Neuroendocrine Tumour | 29/154 19% | 15/577 3% |
| Cervical Carcinoma | 5/35 14% | 20/422 5% |
| Biliary Tract Carcinoma | 4/54 7% | 49/950 5% |
| Chordoma | 0/7 0% | 1/13 8% |
| Small Cell Lung Carcinoma | 1/9 11% | 35/752 5% |
| Bladder Carcinoma | 4/58 7% | 43/956 4% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Head and Neck Carcinoma | 11/85 13% | 56/1574 4% |
| Ewings Sarcoma | 9/63 14% | 4/262 2% |
| Hepatocellular Carcinoma | 7/46 15% | 79/2210 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Thyroid Gland Carcinoma | 3/45 7% | 55/1592 3% |
| Esophageal Carcinoma | 0/23 0% | 27/769 4% |
| Ovarian Carcinoma | 17/109 16% | 19/998 2% |
| Other Sarcomas | 8/69 12% | 16/699 2% |
| Mesothelioma | 4/62 6% | 3/165 2% |
| Osteosarcoma | 4/45 9% | 2/166 1% |
| Breast Carcinoma | 20/144 14% | 74/3264 2% |
Mutation Distribution
Where HERC2 is mutated · all tissues, split by cell line vs tissue
How many mutations in HERC2 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 2,737 mutations in HERC2
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 |
|---|