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 | 892 | 183 | 697 |
| Samples | 780 | 163 | 608 |
| Peptides | 655 | 109 | 561 |
Function
SNRNP200 · Small nuclear ribonucleoprotein U5 subunit 200
Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 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 |
|---|---|---|---|
| ENST00000323853 | O75643 | 892 | 655 |
Gene Properties
Recurrent Mutations
All 654 amino-acid changes on canonical ENST00000323853 · 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 SNRNP200 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SNRNP200 – 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 | 11/40 28% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 44/612 7% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Melanoma | 10/210 5% | 72/1899 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Colorectal Carcinoma | 22/143 15% | 102/3239 3% |
| Non-Small Cell Lung Carcinoma | 24/304 8% | 31/1390 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Cervical Carcinoma | 5/35 14% | 7/422 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 20/810 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Mesothelioma | 4/62 6% | 1/165 1% |
| Gastric Carcinoma | 0/74 0% | 36/1809 2% |
| Bladder Carcinoma | 5/58 9% | 14/956 1% |
| Non-Cancerous | 1/104 1% | 16/830 2% |
| Plasma Cell Myeloma | 5/44 11% | 1/305 0% |
| Other Solid Cancers | 2/94 2% | 25/1515 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 12/752 2% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Head and Neck Carcinoma | 3/85 4% | 20/1574 1% |
| Neuroendocrine Tumour | 4/154 3% | 6/577 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 19/1592 1% |
| Ovarian Carcinoma | 3/109 3% | 10/998 1% |
| Medulloblastoma | 0/0 0% | 5/450 1% |
| Glioma | 0/52 0% | 24/2127 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Hepatocellular Carcinoma | 1/46 2% | 21/2210 1% |
| Breast Carcinoma | 7/144 5% | 26/3264 1% |
| Prostate Carcinoma | 2/13 15% | 18/2105 1% |
Mutation Distribution
Where SNRNP200 is mutated · all tissues, split by cell line vs tissue
How many mutations in SNRNP200 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 892 mutations in SNRNP200
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 |
|---|