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 | 418 | 57 | 358 |
| Samples | 163 | 31 | 131 |
| Peptides | 151 | 21 | 130 |
Function
DYNC2LI1 · Dynein cytoplasmic 2 light intermediate chain 1
This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017].
Isoforms & Proteins
4 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 116 amino-acid changes on canonical ENST00000260605 · 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 DYNC2LI1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DYNC2LI1 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Burkitts Lymphoma | 0/32 0% | 4/196 2% |
| Endometrial Carcinoma | 1/42 2% | 10/612 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Other Solid Cancers | 1/94 1% | 11/1515 1% |
| Colorectal Carcinoma | 4/143 3% | 21/3239 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 9/1390 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Non-Cancerous | 0/104 0% | 6/830 1% |
| Gastric Carcinoma | 2/74 3% | 7/1809 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
| Melanoma | 3/210 1% | 5/1899 0% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Breast Carcinoma | 1/144 1% | 8/3264 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Prostate Carcinoma | 1/13 8% | 2/2105 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Other Blood Cancers | 1/61 2% | 2/2725 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 1/2534 0% |
Mutation Distribution
Where DYNC2LI1 is mutated · all tissues, split by cell line vs tissue
How many mutations in DYNC2LI1 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 418 mutations in DYNC2LI1
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 |
|---|