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 | 248 | 24 | 212 |
| Samples | 229 | 23 | 200 |
| Peptides | 194 | 24 | 165 |
Function
SPATA5L1 · ATPase family gene 2 protein homolog B
ATP-dependent chaperone part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Required for replication fork progression, sister chromatid cohesion, and chromosome stability. The ATPase activity is specifically enhanced by replication fork DNA and is coupled to cysteine protease-dependent cleavage of replisome substrates in response to replication fork damage. Uses ATPase activity to process replisome substrates in S-phase, facilitating their proteolytic turnover from chromatin to ensure DNA replication and mitotic fidelity (PubMed:38554706). Plays an essential role in the cytoplasmic maturation steps of pre-60S ribosomal particles by promoting the release of shuttling protein RSL24D1/RLP24 from the pre-ribosomal particles (PubMed:35354024)
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 |
|---|---|---|---|
| ENST00000305560 | Q9BVQ7 | 248 | 194 |
Gene Properties
Recurrent Mutations
All 194 amino-acid changes on canonical ENST00000305560 · 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 SPATA5L1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SPATA5L1 – 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 | 2/40 5% | 0/0 0% |
| Melanoma | 2/210 1% | 31/1899 2% |
| Endometrial Carcinoma | 1/42 2% | 9/612 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Other Solid Cancers | 1/94 1% | 15/1515 1% |
| Colorectal Carcinoma | 2/143 1% | 28/3239 1% |
| Gastric Carcinoma | 0/74 0% | 16/1809 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 6/810 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Other Sarcomas | 0/69 0% | 6/699 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| Hepatocellular Carcinoma | 0/46 0% | 14/2210 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 8/1390 1% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Neuroendocrine Tumour | 1/154 1% | 2/577 0% |
| Glioma | 0/52 0% | 8/2127 0% |
| Head and Neck Carcinoma | 2/85 2% | 4/1574 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Ovarian Carcinoma | 2/109 2% | 1/998 0% |
| Breast Carcinoma | 1/144 1% | 7/3264 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 5/2550 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Kidney Carcinoma | 1/85 1% | 3/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 4/2534 0% |
| Small Cell Lung Carcinoma | 1/9 11% | 0/752 0% |
Mutation Distribution
Where SPATA5L1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SPATA5L1 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 248 mutations in SPATA5L1
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 |
|---|