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 | 517 | 58 | 456 |
| Samples | 261 | 45 | 214 |
| Peptides | 191 | 35 | 160 |
Function
SOX10 · SRY-box transcription factor 10
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
3 transcripts · 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 |
|---|---|---|---|
| ENST00000396884 | P56693 | 277 | 190 |
| ENST00000360880 | P56693 | 239 | 170 |
| ENST00000698177 | A0A8V8TM01* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 190 amino-acid changes on canonical ENST00000396884 · 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 SOX10 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SOX10 – 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% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 10/612 2% |
| Melanoma | 2/210 1% | 42/1899 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Colorectal Carcinoma | 5/143 4% | 35/3239 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Neuroendocrine Tumour | 4/154 3% | 3/577 1% |
| Other Solid Cancers | 2/94 2% | 12/1515 1% |
| Non-Cancerous | 0/104 0% | 8/830 1% |
| Gastric Carcinoma | 0/74 0% | 15/1809 1% |
| Other Sarcomas | 2/69 3% | 4/699 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 19/2550 1% |
| Cervical Carcinoma | 1/35 3% | 2/422 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 9/1592 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 5/810 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Ovarian Carcinoma | 3/109 3% | 1/998 0% |
| Hepatocellular Carcinoma | 1/46 2% | 7/2210 0% |
| Glioma | 1/52 2% | 6/2127 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 3/1390 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Breast Carcinoma | 0/144 0% | 8/3264 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| B-Lymphoblastic Leukemia | 5/55 9% | 0/2640 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
Mutation Distribution
Where SOX10 is mutated · all tissues, split by cell line vs tissue
How many mutations in SOX10 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.
Mutations
All 517 mutations in SOX10
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 |
|---|