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 | 741 | 111 | 622 |
| Samples | 366 | 68 | 293 |
| Peptides | 303 | 47 | 261 |
Function
DNAI1 · Dynein axonemal intermediate chain 1
This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
Isoforms & Proteins
2 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 |
|---|---|---|---|
| ENST00000242317 | Q9UI46 | 386 | 286 |
| ENST00000614641 | A0A087WWV9* | 355 | 277 |
Gene Properties
Recurrent Mutations
All 286 amino-acid changes on canonical ENST00000242317 · 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 DNAI1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DNAI1 – 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 |
|---|---|---|
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 24/612 4% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Melanoma | 3/210 1% | 52/1899 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 17/810 2% |
| Colorectal Carcinoma | 16/143 11% | 48/3239 1% |
| Gastric Carcinoma | 3/74 4% | 22/1809 1% |
| Other Solid Cancers | 1/94 1% | 15/1515 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 13/1390 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Head and Neck Carcinoma | 1/85 1% | 10/1574 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Glioma | 0/52 0% | 12/2127 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 11/2550 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Ovarian Carcinoma | 1/109 1% | 4/998 0% |
| Neuroendocrine Tumour | 1/154 1% | 2/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Prostate Carcinoma | 2/13 15% | 6/2105 0% |
| Pancreatic Carcinoma | 2/89 2% | 4/1611 0% |
| Biliary Tract Carcinoma | 1/54 2% | 2/950 0% |
| Breast Carcinoma | 3/144 2% | 6/3264 0% |
| Other Blood Cancers | 2/61 3% | 5/2725 0% |
Mutation Distribution
Where DNAI1 is mutated · all tissues, split by cell line vs tissue
How many mutations in DNAI1 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 53 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 741 mutations in DNAI1
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 |
|---|