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 | 5,089 | 717 | 4,295 |
| Samples | 3,327 | 500 | 2,770 |
| Peptides | 2,879 | 456 | 2,567 |
Function
DNAH5 · Dynein axonemal heavy chain 5
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009].
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 |
|---|---|---|---|
| ENST00000265104 | Q8TE73 | 5,089 | 2,879 |
Gene Properties
Recurrent Mutations
All 2500 amino-acid changes on canonical ENST00000265104 · 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 DNAH5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DNAH5 – 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 | 13/40 32% | 0/0 0% |
| Melanoma | 72/210 34% | 596/1899 31% |
| Chronic Myelogenous Leukemia | 7/25 28% | 0/0 0% |
| Endometrial Carcinoma | 16/42 38% | 87/612 14% |
| Squamous Cell Lung Carcinoma | 22/57 39% | 114/810 14% |
| T-Cell Non-Hodgkins Lymphoma | 4/26 15% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 53/304 17% | 148/1390 11% |
| Gastric Carcinoma | 15/74 20% | 199/1809 11% |
| Colorectal Carcinoma | 49/143 34% | 332/3239 10% |
| Other Solid Cancers | 16/94 17% | 158/1515 10% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Glioblastoma | 9/98 9% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 11/133 8% |
| Bladder Carcinoma | 9/58 16% | 74/956 8% |
| Acute Myeloid Leukemia | 7/90 8% | 0/0 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 57/752 8% |
| Neuroendocrine Tumour | 26/154 17% | 22/577 4% |
| Esophageal Squamous Cell Carcinoma | 13/51 25% | 157/2550 6% |
| Head and Neck Carcinoma | 3/85 4% | 103/1574 7% |
| Plasma Cell Myeloma | 4/44 9% | 17/305 6% |
| Esophageal Carcinoma | 3/23 13% | 44/769 6% |
| Hepatocellular Carcinoma | 9/46 20% | 123/2210 6% |
| Hodgkins Lymphoma | 4/16 25% | 4/122 3% |
| Rhabdomyosarcoma | 1/33 3% | 9/171 5% |
| Pancreatic Carcinoma | 9/89 10% | 74/1611 5% |
| Osteosarcoma | 5/45 11% | 5/166 3% |
| Ovarian Carcinoma | 14/109 13% | 34/998 3% |
| Ewings Sarcoma | 9/63 14% | 5/262 2% |
| Other Sarcomas | 7/69 10% | 25/699 4% |
| Non-Cancerous | 3/104 3% | 32/830 4% |
Mutation Distribution
Where DNAH5 is mutated · all tissues, split by cell line vs tissue
How many mutations in DNAH5 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 5,089 mutations in DNAH5
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 |
|---|