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 | 3,619 | 411 | 3,158 |
| Samples | 545 | 107 | 428 |
| Peptides | 559 | 85 | 478 |
Function
DCTN1 · Dynactin subunit 1
This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008].
Isoforms & Proteins
8 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 390 amino-acid changes on canonical ENST00000394003 · 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 DCTN1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DCTN1 – 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 | 7/40 18% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 29/612 5% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Burkitts Lymphoma | 6/32 19% | 0/196 0% |
| Colorectal Carcinoma | 18/143 13% | 67/3239 2% |
| Melanoma | 7/210 3% | 39/1899 2% |
| Gastric Carcinoma | 2/74 3% | 37/1809 2% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 20/1390 1% |
| Bladder Carcinoma | 0/58 0% | 16/956 2% |
| Ewings Sarcoma | 5/63 8% | 0/262 0% |
| Hodgkins Lymphoma | 1/16 6% | 1/122 1% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 11/810 1% |
| Ovarian Carcinoma | 4/109 4% | 10/998 1% |
| Other Solid Cancers | 5/94 5% | 15/1515 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 25/2550 1% |
| Other Sarcomas | 1/69 1% | 7/699 1% |
| Rhabdomyosarcoma | 1/33 3% | 1/171 1% |
| Glioma | 0/52 0% | 21/2127 1% |
| Neuroendocrine Tumour | 2/154 1% | 5/577 1% |
| Biliary Tract Carcinoma | 1/54 2% | 8/950 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Non-Cancerous | 0/104 0% | 8/830 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 14/1592 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Kidney Carcinoma | 3/85 4% | 11/1862 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 3/752 0% |
| Hepatocellular Carcinoma | 3/46 7% | 12/2210 1% |
| Prostate Carcinoma | 0/13 0% | 14/2105 1% |
Mutation Distribution
Where DCTN1 is mutated · all tissues, split by cell line vs tissue
How many mutations in DCTN1 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 3,619 mutations in DCTN1
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 |
|---|