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 | 1,502 | 255 | 1,239 |
| Samples | 1,275 | 212 | 1,056 |
| Peptides | 1,015 | 165 | 880 |
Function
SPAG17 · Sperm associated antigen 17
This gene encodes a central pair protein present in the axonemes of cells with a '9 + 2' organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017].
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 |
|---|---|---|---|
| ENST00000336338 | Q6Q759 | 1,502 | 1,015 |
Gene Properties
Recurrent Mutations
All 1015 amino-acid changes on canonical ENST00000336338 · 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 SPAG17 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SPAG17 – 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 | 5/40 12% | 0/0 0% |
| Melanoma | 15/210 7% | 186/1899 10% |
| Endometrial Carcinoma | 11/42 26% | 49/612 8% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Other Solid Cancers | 6/94 6% | 88/1515 6% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 43/810 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Bladder Carcinoma | 5/58 9% | 40/956 4% |
| Colorectal Carcinoma | 24/143 17% | 124/3239 4% |
| Non-Small Cell Lung Carcinoma | 17/304 6% | 57/1390 4% |
| Hodgkins Lymphoma | 4/16 25% | 2/122 2% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 26/752 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 14/422 3% |
| Neuroendocrine Tumour | 16/154 10% | 5/577 1% |
| Head and Neck Carcinoma | 5/85 6% | 40/1574 3% |
| Gastric Carcinoma | 4/74 5% | 46/1809 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Glioma | 1/52 2% | 42/2127 2% |
| Esophageal Squamous Cell Carcinoma | 5/51 10% | 46/2550 2% |
| Rhabdomyosarcoma | 1/33 3% | 3/171 2% |
| Hepatocellular Carcinoma | 5/46 11% | 37/2210 2% |
| Ovarian Carcinoma | 5/109 5% | 15/998 2% |
| Esophageal Carcinoma | 1/23 4% | 13/769 2% |
| Thyroid Gland Carcinoma | 1/45 2% | 28/1592 2% |
| Non-Cancerous | 2/104 2% | 14/830 2% |
| Osteosarcoma | 2/45 4% | 1/166 1% |
Mutation Distribution
Where SPAG17 is mutated · all tissues, split by cell line vs tissue
How many mutations in SPAG17 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 1,502 mutations in SPAG17
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 |
|---|