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 | 106 | 21 | 83 |
| Samples | 65 | 15 | 48 |
| Peptides | 57 | 9 | 47 |
Function
UBE2D1 · Ubiquitin conjugating enzyme E2 D1
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011].
Isoforms & Proteins
2 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 |
|---|---|---|---|
| ENST00000373910 | P51668 | 66 | 50 |
| ENST00000615793 | A0A087WW00* | 40 | 36 |
Gene Properties
Recurrent Mutations
All 50 amino-acid changes on canonical ENST00000373910 · 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 UBE2D1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in UBE2D1 – 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 | 1/40 2% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 7/612 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Melanoma | 2/210 1% | 9/1899 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Ovarian Carcinoma | 3/109 3% | 0/998 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Colorectal Carcinoma | 0/143 0% | 6/3239 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Other Blood Cancers | 0/61 0% | 4/2725 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Breast Carcinoma | 2/144 1% | 2/3264 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| Gastric Carcinoma | 0/74 0% | 2/1809 0% |
| Hepatocellular Carcinoma | 0/46 0% | 2/2210 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 2/2550 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 1/2640 0% |
Mutation Distribution
Where UBE2D1 is mutated · all tissues, split by cell line vs tissue
How many mutations in UBE2D1 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 106 mutations in UBE2D1
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 |
|---|