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 | 288 | 50 | 236 |
| Samples | 278 | 50 | 226 |
| Peptides | 168 | 31 | 141 |
Function
SPACA1 · Sperm acrosome associated 1
The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008].
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 |
|---|---|---|---|
| ENST00000237201 | Q9HBV2 | 288 | 168 |
Gene Properties
Recurrent Mutations
All 168 amino-acid changes on canonical ENST00000237201 · 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 SPACA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SPACA1 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Melanoma | 7/210 3% | 52/1899 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Hodgkins Lymphoma | 1/16 6% | 1/122 1% |
| Endometrial Carcinoma | 3/42 7% | 6/612 1% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 10/810 1% |
| Gastric Carcinoma | 0/74 0% | 18/1809 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 13/1390 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Other Solid Cancers | 2/94 2% | 12/1515 1% |
| Neuroendocrine Tumour | 4/154 3% | 2/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Bladder Carcinoma | 1/58 2% | 6/956 1% |
| Colorectal Carcinoma | 1/143 1% | 22/3239 1% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 16/2550 1% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
| Head and Neck Carcinoma | 1/85 1% | 7/1574 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Glioma | 0/52 0% | 9/2127 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Ovarian Carcinoma | 3/109 3% | 1/998 0% |
| Breast Carcinoma | 4/144 3% | 8/3264 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Pancreatic Carcinoma | 2/89 2% | 1/1611 0% |
Mutation Distribution
Where SPACA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SPACA1 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 5 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 288 mutations in SPACA1
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 |
|---|