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 | 5,823 | 621 | 5,100 |
| Samples | 1,702 | 283 | 1,383 |
| Peptides | 1,582 | 224 | 1,356 |
Function
HUWE1 · HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013].
Isoforms & Proteins
4 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 1567 amino-acid changes on canonical ENST00000262854 · 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 HUWE1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HUWE1 – 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 | 10/40 25% | 0/0 0% |
| Endometrial Carcinoma | 21/42 50% | 92/612 15% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Melanoma | 31/210 15% | 158/1899 8% |
| Cervical Carcinoma | 7/35 20% | 32/422 8% |
| Colorectal Carcinoma | 39/143 27% | 189/3239 6% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 26/304 9% | 76/1390 5% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Gastric Carcinoma | 10/74 14% | 89/1809 5% |
| Small Cell Lung Carcinoma | 1/9 11% | 37/752 5% |
| Head and Neck Carcinoma | 5/85 6% | 76/1574 5% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 41/810 5% |
| Bladder Carcinoma | 5/58 9% | 40/956 4% |
| Other Solid Cancers | 10/94 11% | 57/1515 4% |
| Ovarian Carcinoma | 14/109 13% | 29/998 3% |
| Germ Cell Tumour | 5/25 20% | 2/169 1% |
| Adrenocortical Carcinoma | 2/3 67% | 2/112 2% |
| Biliary Tract Carcinoma | 2/54 4% | 28/950 3% |
| Breast Carcinoma | 15/144 10% | 85/3264 3% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 68/2550 3% |
| Other Sarcomas | 2/69 3% | 19/699 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Hepatocellular Carcinoma | 0/46 0% | 57/2210 3% |
| Plasma Cell Myeloma | 3/44 7% | 5/305 2% |
| Mesothelioma | 4/62 6% | 1/165 1% |
| Non-Cancerous | 2/104 2% | 18/830 2% |
| Thyroid Gland Carcinoma | 2/45 4% | 32/1592 2% |
| Neuroendocrine Tumour | 6/154 4% | 9/577 2% |
Mutation Distribution
Where HUWE1 is mutated · all tissues, split by cell line vs tissue
How many mutations in HUWE1 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 5,823 mutations in HUWE1
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 |
|---|