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 | 1,962 | 411 | 1,518 |
| Samples | 1,587 | 337 | 1,232 |
| Peptides | 1,407 | 229 | 1,195 |
Function
SPEN · Spen family transcriptional repressor
This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [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 |
|---|---|---|---|
| ENST00000375759 | Q96T58 | 1,962 | 1,407 |
Gene Properties
Recurrent Mutations
All 1406 amino-acid changes on canonical ENST00000375759 · 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 SPEN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SPEN – 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 | 14/40 35% | 0/0 0% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Oral Cavity Carcinoma | 6/54 11% | 0/0 0% |
| Endometrial Carcinoma | 16/42 38% | 53/612 9% |
| Melanoma | 31/210 15% | 137/1899 7% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Bladder Carcinoma | 8/58 14% | 52/956 5% |
| Colorectal Carcinoma | 36/143 25% | 161/3239 5% |
| Burkitts Lymphoma | 7/32 22% | 6/196 3% |
| Other Solid Cancers | 6/94 6% | 85/1515 6% |
| Gastric Carcinoma | 15/74 20% | 89/1809 5% |
| Non-Small Cell Lung Carcinoma | 35/304 12% | 58/1390 4% |
| Cervical Carcinoma | 3/35 9% | 21/422 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Ovarian Carcinoma | 14/109 13% | 31/998 3% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Plasma Cell Myeloma | 7/44 16% | 6/305 2% |
| Germ Cell Tumour | 0/25 0% | 7/169 4% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 24/810 3% |
| Chondrosarcoma | 3/14 21% | 0/75 0% |
| Other Sarcomas | 6/69 9% | 19/699 3% |
| Head and Neck Carcinoma | 5/85 6% | 47/1574 3% |
| Ewings Sarcoma | 5/63 8% | 5/262 2% |
| Neuroendocrine Tumour | 8/154 5% | 14/577 2% |
| Esophageal Squamous Cell Carcinoma | 7/51 14% | 71/2550 3% |
| Biliary Tract Carcinoma | 4/54 7% | 23/950 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 19/752 3% |
| Hepatocellular Carcinoma | 2/46 4% | 52/2210 2% |
Mutation Distribution
Where SPEN is mutated · all tissues, split by cell line vs tissue
How many mutations in SPEN 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 1,962 mutations in SPEN
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 |
|---|