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 | 10,584 | 1,101 | 9,308 |
| Samples | 2,264 | 400 | 1,821 |
| Peptides | 2,338 | 327 | 2,045 |
Function
DMD · Dystrophin
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016].
Isoforms & Proteins
16 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000357033 | P11532 | 2,932 | 2,064 |
| ENST00000378677 | P11532-11 | 2,628 | 1,971 |
| ENST00000474231 | P11532-14 | 747 | 549 |
| ENST00000378707 | P11532-12 | 746 | 549 |
| ENST00000359836 | P11532-15 | 742 | 545 |
| ENST00000541735 | P11532-13 | 685 | 501 |
| ENST00000288447 | F6RRH4* | 558 | 437 |
| ENST00000378723 | P11532-6 | 391 | 288 |
| ENST00000361471 | P11532-5 | 357 | 263 |
| ENST00000378702 | P11532-7 | 326 | 246 |
| ENST00000378680 | P11532-9 | 280 | 209 |
| ENST00000619831 | P11532-3 | 84 | 65 |
| ENST00000620040 | A0A087WTU7* | 58 | 45 |
| ENST00000343523 | A0A5H1ZRP7* | 48 | 34 |
| ENST00000358062 | H0Y304* | 1 | 1 |
| ENST00000679437 | A0A7P0Z4Q6* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 2064 amino-acid changes on canonical ENST00000357033 · 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 DMD · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DMD – 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% |
| T-Cell Non-Hodgkins Lymphoma | 5/26 19% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 94/612 15% |
| Non-Small Cell Lung Carcinoma | 58/304 19% | 142/1390 10% |
| Squamous Cell Lung Carcinoma | 14/57 25% | 77/810 10% |
| Melanoma | 31/210 15% | 161/1899 8% |
| Acute Myeloid Leukemia | 8/90 9% | 0/0 0% |
| Cervical Carcinoma | 4/35 11% | 36/422 9% |
| Colorectal Carcinoma | 45/143 31% | 247/3239 8% |
| Gastric Carcinoma | 9/74 12% | 143/1809 8% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 55/752 7% |
| Other Solid Cancers | 7/94 7% | 108/1515 7% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Hodgkins Lymphoma | 4/16 25% | 4/122 3% |
| Neuroendocrine Tumour | 24/154 16% | 16/577 3% |
| Esophageal Squamous Cell Carcinoma | 11/51 22% | 120/2550 5% |
| Bladder Carcinoma | 4/58 7% | 45/956 5% |
| Head and Neck Carcinoma | 10/85 12% | 69/1574 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Burkitts Lymphoma | 10/32 31% | 0/196 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Other Sarcomas | 5/69 7% | 24/699 3% |
| Ovarian Carcinoma | 17/109 16% | 22/998 2% |
| Mesothelioma | 7/62 11% | 1/165 1% |
| Plasma Cell Myeloma | 3/44 7% | 9/305 3% |
| Chondrosarcoma | 2/14 14% | 1/75 1% |
| Hepatocellular Carcinoma | 8/46 17% | 64/2210 3% |
| Esophageal Carcinoma | 2/23 9% | 23/769 3% |
Mutation Distribution
Where DMD is mutated · all tissues, split by cell line vs tissue
How many mutations in DMD 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 10,584 mutations in DMD
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 |
|---|