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 | 88 | 50 | 0 |
| Samples | 58 | 47 | 0 |
| Peptides | 79 | 42 | 0 |
Function
DNAAF9 · Dynein axonemal assembly factor 9
This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011].
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 |
|---|---|---|---|
| ENST00000252032 | Q5TEA3 | 88 | 79 |
Gene Properties
Recurrent Mutations
All 80 amino-acid changes on canonical ENST00000252032 · 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 DNAAF9 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DNAAF9 – 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 | 2/40 5% | 0/0 0% |
| Unknown | 1/10 10% | 0/29 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 1/1390 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Endometrial Carcinoma | 1/42 2% | 1/612 0% |
| Biliary Tract Carcinoma | 3/54 6% | 0/950 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Colorectal Carcinoma | 7/143 5% | 2/3239 0% |
| Melanoma | 4/210 2% | 1/1899 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Head and Neck Carcinoma | 2/85 2% | 0/1574 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 0/810 0% |
| Other Solid Cancers | 2/94 2% | 0/1515 0% |
| Non-Cancerous | 1/104 1% | 0/830 0% |
| Gastric Carcinoma | 1/74 1% | 1/1809 0% |
| Bladder Carcinoma | 1/58 2% | 0/956 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| Prostate Carcinoma | 1/13 8% | 0/2105 0% |
| Glioma | 0/52 0% | 1/2127 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 0/2550 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 0/2534 0% |
| Other Blood Cancers | 1/61 2% | 0/2725 0% |
| B-Lymphoblastic Leukemia | 1/55 2% | 0/2640 0% |
| Breast Carcinoma | 1/144 1% | 0/3264 0% |
Mutation Distribution
Where DNAAF9 is mutated · all tissues, split by cell line vs tissue
How many mutations in DNAAF9 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 88 mutations in DNAAF9
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 |
|---|