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 | 1,308 | 161 | 1,134 |
| Samples | 353 | 70 | 278 |
| Peptides | 299 | 48 | 251 |
Function
DAXX · Death domain associated protein
This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008].
Isoforms & Proteins
4 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.
Gene Properties
Recurrent Mutations
All 279 amino-acid changes on canonical ENST00000374542 · 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 DAXX · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DAXX – 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 | 9/40 22% | 0/0 0% |
| Chordoma | 2/7 29% | 0/13 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 10/42 24% | 17/612 3% |
| Neuroendocrine Tumour | 4/154 3% | 10/577 2% |
| Melanoma | 5/210 2% | 35/1899 2% |
| Osteosarcoma | 3/45 7% | 1/166 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 12/810 1% |
| Gastric Carcinoma | 5/74 7% | 20/1809 1% |
| Bladder Carcinoma | 0/58 0% | 13/956 1% |
| Other Solid Cancers | 0/94 0% | 18/1515 1% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Colorectal Carcinoma | 7/143 5% | 28/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 16/1592 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 12/1390 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Other Sarcomas | 1/69 1% | 4/699 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Ovarian Carcinoma | 3/109 3% | 3/998 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Glioma | 0/52 0% | 11/2127 1% |
| Biliary Tract Carcinoma | 1/54 2% | 4/950 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Head and Neck Carcinoma | 0/85 0% | 8/1574 1% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Breast Carcinoma | 2/144 1% | 12/3264 0% |
| Pancreatic Carcinoma | 4/89 4% | 3/1611 0% |
| Kidney Carcinoma | 0/85 0% | 8/1862 0% |
| Meningioma | 0/3 0% | 1/252 0% |
Mutation Distribution
Where DAXX is mutated · all tissues, split by cell line vs tissue
How many mutations in DAXX 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 1,308 mutations in DAXX
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 |
|---|