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 | 171 | 18 | 151 |
| Samples | 154 | 18 | 134 |
| Peptides | 80 | 11 | 71 |
Function
SPANXD · SPANX family member D
Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that is associated with the nucleus but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. Polymorphisms in this gene may be associated with prostate cancer susceptibility. [provided by RefSeq, Apr 2014].
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 |
|---|---|---|---|
| ENST00000370515 | Q9BXN6 | 171 | 80 |
Gene Properties
Recurrent Mutations
All 80 amino-acid changes on canonical ENST00000370515 · 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 SPANXD · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SPANXD – 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 | 1/54 2% | 0/0 0% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Melanoma | 0/210 0% | 22/1899 1% |
| Other Solid Cancers | 1/94 1% | 12/1515 1% |
| Endometrial Carcinoma | 0/42 0% | 5/612 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 4/810 0% |
| Colorectal Carcinoma | 1/143 1% | 22/3239 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 9/1390 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 7/1592 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Gastric Carcinoma | 0/74 0% | 8/1809 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Bladder Carcinoma | 2/58 3% | 2/956 0% |
| Head and Neck Carcinoma | 1/85 1% | 5/1574 0% |
| Pancreatic Carcinoma | 1/89 1% | 4/1611 0% |
| Glioma | 0/52 0% | 6/2127 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 2/2534 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
| Hepatocellular Carcinoma | 0/46 0% | 1/2210 0% |
Mutation Distribution
Where SPANXD is mutated · all tissues, split by cell line vs tissue
How many mutations in SPANXD 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 1 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 171 mutations in SPANXD
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 |
|---|