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 | 68 | 52 | 0 |
| Samples | 53 | 47 | 0 |
| Peptides | 64 | 48 | 0 |
Function
ENTREP3 · Endosomal transmembrane epsin interactor 3
This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010].
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 |
|---|---|---|---|
| ENST00000361361 | P81408 | 68 | 64 |
Gene Properties
Recurrent Mutations
All 64 amino-acid changes on canonical ENST00000361361 · 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 ENTREP3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ENTREP3 – 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 | 5/40 12% | 0/0 0% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Colorectal Carcinoma | 10/143 7% | 1/3239 0% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 1/1390 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Bladder Carcinoma | 2/58 3% | 0/956 0% |
| Endometrial Carcinoma | 0/42 0% | 1/612 0% |
| Other Sarcomas | 1/69 1% | 0/699 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 0/810 0% |
| Breast Carcinoma | 3/144 2% | 1/3264 0% |
| Ovarian Carcinoma | 1/109 1% | 0/998 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 0/2534 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 0/1592 0% |
| Head and Neck Carcinoma | 1/85 1% | 0/1574 0% |
| Melanoma | 1/210 0% | 0/1899 0% |
| Gastric Carcinoma | 0/74 0% | 1/1809 0% |
| Kidney Carcinoma | 1/85 1% | 0/1862 0% |
| Hepatocellular Carcinoma | 1/46 2% | 0/2210 0% |
| B-Lymphoblastic Leukemia | 1/55 2% | 0/2640 0% |
| Other Blood Cancers | 1/61 2% | 0/2725 0% |
Mutation Distribution
Where ENTREP3 is mutated · all tissues, split by cell line vs tissue
How many mutations in ENTREP3 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 68 mutations in ENTREP3
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 |
|---|