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 | 1,358 | 200 | 1,145 |
| Samples | 391 | 81 | 302 |
| Peptides | 327 | 52 | 274 |
Function
PSMD1 · Proteasome 26S subunit, non-ATPase 1
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. There is evidence that this proteasome and its subunits interact with viral proteins, including those of coronaviruses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2020].
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 |
|---|---|---|---|
| ENST00000308696 | Q99460 | 425 | 308 |
| ENST00000373635 | Q99460-2 | 352 | 277 |
| ENST00000409643 | A0A7P0MW50* | 308 | 243 |
| ENST00000619128 | A0A087WW66* | 271 | 208 |
| ENST00000677230 | Q99460 | 2 | 2 |
Gene Properties
Recurrent Mutations
All 308 amino-acid changes on canonical ENST00000308696 · 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 PSMD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PSMD1 – 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 | 7/40 18% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 19/612 3% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 6/210 3% | 33/1899 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 14/810 2% |
| Other Solid Cancers | 3/94 3% | 26/1515 2% |
| Plasma Cell Myeloma | 2/44 5% | 4/305 1% |
| Non-Small Cell Lung Carcinoma | 13/304 4% | 15/1390 1% |
| Burkitts Lymphoma | 2/32 6% | 1/196 1% |
| Colorectal Carcinoma | 4/143 3% | 39/3239 1% |
| Gastric Carcinoma | 0/74 0% | 21/1809 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Hepatocellular Carcinoma | 1/46 2% | 23/2210 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Non-Cancerous | 2/104 2% | 6/830 1% |
| Neuroendocrine Tumour | 4/154 3% | 2/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Ovarian Carcinoma | 5/109 5% | 3/998 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 9/1592 1% |
| Head and Neck Carcinoma | 0/85 0% | 11/1574 1% |
| Other Sarcomas | 1/69 1% | 4/699 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 13/2550 1% |
| Breast Carcinoma | 6/144 4% | 13/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 9/2534 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Pancreatic Carcinoma | 0/89 0% | 6/1611 0% |
Mutation Distribution
Where PSMD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PSMD1 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 1,358 mutations in PSMD1
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 |
|---|