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 | 199 | 24 | 168 |
| Samples | 108 | 17 | 86 |
| Peptides | 92 | 12 | 77 |
Function
UFD1 · Ubiquitin recognition factor in ER associated degradation 1
The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009].
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.
Gene Properties
Recurrent Mutations
All 87 amino-acid changes on canonical ENST00000263202 · 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 UFD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in UFD1 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 8/612 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Melanoma | 1/210 0% | 10/1899 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 5/1390 0% |
| Gastric Carcinoma | 0/74 0% | 8/1809 0% |
| Head and Neck Carcinoma | 2/85 2% | 4/1574 0% |
| Colorectal Carcinoma | 0/143 0% | 12/3239 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 5/2550 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Breast Carcinoma | 0/144 0% | 4/3264 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 0/810 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Hepatocellular Carcinoma | 0/46 0% | 2/2210 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
| B-Lymphoblastic Leukemia | 1/55 2% | 0/2640 0% |
Mutation Distribution
Where UFD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in UFD1 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 199 mutations in UFD1
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 |
|---|