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 | 4,549 | 536 | 3,935 |
| Samples | 1,055 | 180 | 851 |
| Peptides | 865 | 135 | 756 |
Function
HECW2 · HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000644978 | Q9P2P5 | 1,268 | 847 |
| ENST00000260983 | Q9P2P5 | 1,093 | 786 |
| ENST00000644030 | A0A2R8Y6F3* | 1,092 | 785 |
| ENST00000644256 | Q9P2P5 | 1,091 | 784 |
| ENST00000647236 | Q9P2P5-2 | 5 | 5 |
Gene Properties
Recurrent Mutations
All 847 amino-acid changes on canonical ENST00000644978 · 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 HECW2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HECW2 – 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 | 8/40 20% | 0/0 0% |
| Melanoma | 22/210 10% | 182/1899 10% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 47/612 8% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 33/810 4% |
| Hodgkins Lymphoma | 2/16 12% | 4/122 3% |
| Other Solid Cancers | 5/94 5% | 57/1515 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 49/1390 4% |
| Colorectal Carcinoma | 27/143 19% | 89/3239 3% |
| Gastric Carcinoma | 4/74 5% | 60/1809 3% |
| Germ Cell Tumour | 3/25 12% | 2/169 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 17/752 2% |
| Neuroendocrine Tumour | 10/154 6% | 8/577 1% |
| Bladder Carcinoma | 3/58 5% | 20/956 2% |
| Cervical Carcinoma | 3/35 9% | 6/422 1% |
| Non-Cancerous | 2/104 2% | 15/830 2% |
| Head and Neck Carcinoma | 0/85 0% | 30/1574 2% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 43/2550 2% |
| Hepatocellular Carcinoma | 2/46 4% | 36/2210 2% |
| Other Sarcomas | 6/69 9% | 6/699 1% |
| Ovarian Carcinoma | 6/109 6% | 11/998 1% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Thyroid Gland Carcinoma | 2/45 4% | 21/1592 1% |
| Pancreatic Carcinoma | 3/89 3% | 21/1611 1% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Breast Carcinoma | 2/144 1% | 32/3264 1% |
Mutation Distribution
Where HECW2 is mutated · all tissues, split by cell line vs tissue
How many mutations in HECW2 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 4,549 mutations in HECW2
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 |
|---|