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 | 3,028 | 587 | 2,394 |
| Samples | 1,666 | 361 | 1,279 |
| Peptides | 1,567 | 289 | 1,287 |
Function
DYNC2H1 · Dynein cytoplasmic 2 heavy chain 1
This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010].
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.
Gene Properties
Recurrent Mutations
All 1548 amino-acid changes on canonical ENST00000375735 · 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 DYNC2H1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DYNC2H1 – 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 | 11/40 28% | 0/0 0% |
| Chronic Myelogenous Leukemia | 5/25 20% | 0/0 0% |
| Oral Cavity Carcinoma | 9/54 17% | 0/0 0% |
| Endometrial Carcinoma | 14/42 33% | 68/612 11% |
| Acute Myeloid Leukemia | 11/90 12% | 0/0 0% |
| Melanoma | 28/210 13% | 139/1899 7% |
| Non-Small Cell Lung Carcinoma | 59/304 19% | 72/1390 5% |
| Acute Monocytic Leukemia | 1/1 100% | 1/25 4% |
| Colorectal Carcinoma | 48/143 34% | 174/3239 5% |
| Hodgkins Lymphoma | 4/16 25% | 4/122 3% |
| Gastric Carcinoma | 10/74 14% | 99/1809 5% |
| Cervical Carcinoma | 5/35 14% | 20/422 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 7/133 5% |
| Other Solid Cancers | 8/94 9% | 76/1515 5% |
| Neuroendocrine Tumour | 24/154 16% | 11/577 2% |
| Squamous Cell Lung Carcinoma | 11/57 19% | 28/810 3% |
| Small Cell Lung Carcinoma | 2/9 22% | 32/752 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Plasma Cell Myeloma | 6/44 14% | 6/305 2% |
| Esophageal Carcinoma | 0/23 0% | 27/769 4% |
| Ovarian Carcinoma | 11/109 10% | 25/998 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Thyroid Gland Carcinoma | 10/45 22% | 37/1592 2% |
| Bladder Carcinoma | 5/58 9% | 24/956 3% |
| Hepatocellular Carcinoma | 2/46 4% | 61/2210 3% |
| Esophageal Squamous Cell Carcinoma | 7/51 14% | 64/2550 3% |
| Ewings Sarcoma | 2/63 3% | 6/262 2% |
| Head and Neck Carcinoma | 5/85 6% | 34/1574 2% |
| Biliary Tract Carcinoma | 3/54 6% | 20/950 2% |
| Pancreatic Carcinoma | 9/89 10% | 29/1611 2% |
Mutation Distribution
Where DYNC2H1 is mutated · all tissues, split by cell line vs tissue
How many mutations in DYNC2H1 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 3,028 mutations in DYNC2H1
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 |
|---|