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 | 80 | 47 | 0 |
| Samples | 51 | 44 | 0 |
| Peptides | 75 | 42 | 0 |
Function
DYNC2I1 · Dynein 2 intermediate chain 1
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014].
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 |
|---|---|---|---|
| ENST00000407559 | Q8WVS4 | 80 | 75 |
Gene Properties
Recurrent Mutations
All 75 amino-acid changes on canonical ENST00000407559 · 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 DYNC2I1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DYNC2I1 – 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 |
|---|---|---|
| Glioblastoma | 2/98 2% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 1/612 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Colorectal Carcinoma | 9/143 6% | 1/3239 0% |
| Melanoma | 5/210 2% | 1/1899 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 1/1390 0% |
| Other Solid Cancers | 3/94 3% | 0/1515 0% |
| Other Sarcomas | 1/69 1% | 0/699 0% |
| Head and Neck Carcinoma | 1/85 1% | 1/1574 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 0/1592 0% |
| Non-Cancerous | 1/104 1% | 0/830 0% |
| Ovarian Carcinoma | 1/109 1% | 0/998 0% |
| Breast Carcinoma | 2/144 1% | 1/3264 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 0/2640 0% |
| Pancreatic Carcinoma | 1/89 1% | 0/1611 0% |
| Prostate Carcinoma | 1/13 8% | 0/2105 0% |
| Kidney Carcinoma | 1/85 1% | 0/1862 0% |
| Glioma | 1/52 2% | 0/2127 0% |
Mutation Distribution
Where DYNC2I1 is mutated · all tissues, split by cell line vs tissue
How many mutations in DYNC2I1 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 80 mutations in DYNC2I1
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 |
|---|