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 | 879 | 146 | 720 |
| Samples | 463 | 95 | 361 |
| Peptides | 387 | 67 | 320 |
Function
WASHC5 · WASH complex subunit 5
This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 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 384 amino-acid changes on canonical ENST00000318410 · 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 WASHC5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in WASHC5 – 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 |
|---|---|---|
| Endometrial Carcinoma | 7/42 17% | 28/612 5% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Melanoma | 5/210 2% | 51/1899 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Cervical Carcinoma | 2/35 6% | 9/422 2% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Gastric Carcinoma | 5/74 7% | 33/1809 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 15/810 2% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 22/1390 2% |
| Bladder Carcinoma | 4/58 7% | 12/956 1% |
| Neuroendocrine Tumour | 8/154 5% | 3/577 1% |
| Burkitts Lymphoma | 2/32 6% | 1/196 1% |
| Colorectal Carcinoma | 8/143 6% | 36/3239 1% |
| Ovarian Carcinoma | 4/109 4% | 9/998 1% |
| Plasma Cell Myeloma | 4/44 9% | 0/305 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Other Solid Cancers | 3/94 3% | 13/1515 1% |
| Non-Cancerous | 2/104 2% | 7/830 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 23/2550 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Esophageal Carcinoma | 2/23 9% | 4/769 1% |
| Hepatocellular Carcinoma | 3/46 7% | 12/2210 1% |
| Head and Neck Carcinoma | 1/85 1% | 10/1574 1% |
| Ewings Sarcoma | 1/63 2% | 1/262 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 9/1592 1% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Breast Carcinoma | 3/144 2% | 17/3264 1% |
| Kidney Carcinoma | 2/85 2% | 9/1862 0% |
Mutation Distribution
Where WASHC5 is mutated · all tissues, split by cell line vs tissue
How many mutations in WASHC5 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 879 mutations in WASHC5
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 |
|---|