DMD Gene Complete Identifier and Functional Mapping Reference
Provide a comprehensive cross-database identifier and functional mapping reference for human DMD — a definitive lookup resource covering: ### Section 1: Gene identifiers For human gene DMD, list ALL gene-level database identifiers. Required: - HGNC ID and approved symbol - Ensembl gene ID (ENSG...) - NCBI Entrez Gene ID - OMIM gene/locus ID - Genomic location: chromosome, start position, end position, strand (GRCh38) ### Section 2: Transcript identifiers For human gene DMD, list ALL transcript-level identifiers. Required: - Ensembl transcripts: ALL ENST IDs with biotype. Total count. - RefSeq transcripts: ALL NM_ mRNA accessions. Mark which is MANE Select. - CCDS IDs. - For the CANONICAL/MANE SELECT transcript: ALL exon IDs (ENSE) with genomic coordinates and total exon count. ### Section 3: Protein identifiers For human gene DMD protein product(s), list ALL protein-level identifiers. Required: - UniProt accessions: ALL entries (reviewed and unreviewed). Mark the canonical reviewed entry. - RefSeq protein: ALL NP_ accessions. - Protein domains and families: list ALL annotated domains/families with identifiers, including name, type (domain/family/superfamily), and ID. - Antibody availability: known antibody resources for the protein. ### Section 4: Structure For human gene DMD protein, list ALL structural data. Required: - Experimental structures: ALL PDB IDs. For each: experimental method (X-ray/NMR/Cryo-EM) and resolution. Total count. - Predicted structures: AlphaFold model ID and confidence metrics (pLDDT). ### Section 5: Cross-species orthologs For human gene DMD, list orthologous genes in key model organisms. Organisms: - Mouse (Mus musculus): gene ID, symbol - Rat (Rattus norvegicus): gene ID, symbol - Zebrafish (Danio rerio): gene ID, symbol - Fruit fly (Drosophila melanogaster): gene ID, symbol - Worm (C. elegans): gene ID, symbol - Yeast (S. cerevisiae): gene ID, symbol ### Section 6: Clinical variants & AI predictions For human gene DMD, summarize clinical variants and AI predictions. Clinical variant annotations (ClinVar): - Total variant count (approximate is fine) - Breakdown by classification: Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign - TOP 30 pathogenic/likely pathogenic variants with: variant ID, HGVS notation, associated condition AI-based variant effect predictions: - Splice effect predictions: total count + TOP 30 with delta scores if known - Missense pathogenicity from AlphaMissense — total count + TOP 30 likely-pathogenic with am_pathogenicity scores. ### Section 7: Pathways & Gene Ontology For human gene DMD, list biological pathways and Gene Ontology annotations. Pathway membership: - ALL biological pathways this gene participates in, with pathway IDs and names - Total pathway count Gene Ontology: - Biological Process: count and TOP 20 terms with GO IDs - Molecular Function: count and TOP 20 terms with GO IDs - Cellular Component: count and TOP 20 terms with GO IDs ### Section 8: Protein interactions & networks For human gene DMD protein, summarize protein interactions and networks. Protein-protein interactions (STRING, IntAct, BioGRID, etc.): - Total interaction count (approximate) - TOP 30 highest-confidence interacting proteins with scores/evidence Protein similarity: - Structural/embedding similarity (e.g. Foldseek, ESM): TOP 20 similar proteins with scores - Sequence homology: TOP 20 homologous proteins with identity/similarity ### Section 9: Transcription factor regulatory data For human gene DMD, summarize transcription factor regulatory data. If DMD is a transcription factor: - Downstream targets: total count + TOP 30 with regulation type (activates/represses) and evidence - DNA binding motifs from JASPAR — all known motif IDs and motif family classification. Regardless: - Upstream regulators: TFs that regulate DMD — names with evidence type (ChIP-seq / predicted / experimentally validated) If DMD is not a transcription factor, say so briefly and skip the downstream/motif sections. ### Section 10: Drug & pharmacology data For human gene DMD protein as a drug target, summarize pharmacology data. If DMD is a known drug target: - Targeting molecules: total count in ChEMBL/DrugBank + TOP 30 by development phase (molecule ID, name, mechanism, highest phase) - Clinical trials: TOP 20 involving drugs targeting this gene — trial ID, phase, status, intervention - Pharmacogenomics: known drug-gene interactions affecting drug response + dosing guidelines if any If DMD is not currently a drug target, say so briefly. ### Section 11: Expression profiles For human gene DMD, summarize expression profiles. Tissue expression (GTEx, HPA, Bgee, etc.): - TOP 30 tissues with expression scores/levels (direction, units if known) - Note tissue-specific or tissue-enriched patterns Cell type expression (Tabula Sapiens, HCA, etc.): - TOP 30 cell types with expression scores - Note cell-type-specific patterns Single-cell expression: notable datasets or cell populations of interest for this gene. ### Section 12: Disease associations For human gene DMD, summarize disease associations. Mendelian / monogenic disease: - Diseases caused by mutations in DMD: disease name, disease ID (OMIM/Orphanet/Mondo), inheritance pattern, evidence level - Include all directly linked conditions Phenotype associations: - Clinical phenotypes associated with the gene (HPO terms where known) - TOP 30 phenotype terms with HPO IDs Complex-disease / GWAS: - Traits and diseases significantly associated via GWAS: trait name, variant, effect size, study where known - TOP 30 GWAS associations
Executive summary
DMD encodes dystrophin, a 3,685-residue structural protein that anchors the cytoskeleton to the extracellular matrix via the dystrophin-glycoprotein complex (DGC); loss-of-function mutations cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), two of the most common X-linked recessive diseases. The gene spans over 2.2 Mb on chromosome X (GRCh38: 31,097,677–33,339,609) and is among the largest in the human genome, producing 91 Ensembl transcripts (46 protein-coding) with a canonical 79-exon MANE Select transcript (NM_004006/ENST00000357033). Roughly ~11,261 ClinVar variants are catalogued, with pathogenic mutations spanning Duchenne/Becker muscular dystrophy and dilated cardiomyopathy 3B. The therapeutic landscape is unusually rich — 96 molecules across approved and investigational use, including exon-skipping oligonucleotides (eteplirsen, viltolarsen, casimersen), AAV-mediated microdystrophin gene therapies (delandistrogene moxeparvovec), and nonsense readthrough agents (ataluren). Expression is ubiquitous but highest in skeletal and cardiac muscle, peripheral nerves, and vascular endothelium, consistent with the multisystem manifestations of dystrophinopathy.
DMD — Reference
Cross-database identifier and functional mapping reference for DMD.
Gene identifiers
Gene: DMD (dystrophin)
- HGNC ID: HGNC:2928
- Approved symbol: DMD
- Ensembl gene ID: ENSG00000198947
- NCBI Entrez Gene ID: 1756
- OMIM gene/locus ID: 300377
Genomic location (GRCh38):
- Chromosome: X
- Start position: 31,097,677
- End position: 33,339,609
- Strand: − (negative/reverse)
Transcript identifiers
Ensembl Transcripts (91 total)
| ENST ID | Biotype |
|---|---|
| ENST00000288447 | protein_coding |
| ENST00000343523 | protein_coding |
| ENST00000357033 | protein_coding |
| ENST00000358062 | protein_coding |
| ENST00000359836 | protein_coding |
| ENST00000361471 | protein_coding |
| ENST00000378677 | protein_coding |
| ENST00000378680 | protein_coding |
| ENST00000378702 | protein_coding |
| ENST00000378705 | protein_coding |
| ENST00000378707 | protein_coding |
| ENST00000378723 | protein_coding |
| ENST00000420596 | protein_coding |
| ENST00000447523 | protein_coding |
| ENST00000448370 | protein_coding |
| ENST00000463609 | protein_coding_CDS_not_defined |
| ENST00000471779 | nonsense_mediated_decay |
| ENST00000472266 | protein_coding_CDS_not_defined |
| ENST00000472681 | protein_coding_CDS_not_defined |
| ENST00000474231 | protein_coding |
| ENST00000475732 | retained_intron |
| ENST00000480751 | protein_coding_CDS_not_defined |
| ENST00000481143 | protein_coding_CDS_not_defined |
| ENST00000488902 | protein_coding_CDS_not_defined |
| ENST00000493412 | protein_coding |
| ENST00000541735 | protein_coding |
| ENST00000619831 | protein_coding |
| ENST00000620040 | protein_coding |
| ENST00000634285 | retained_intron |
| ENST00000634315 | protein_coding_CDS_not_defined |
| ENST00000679437 | protein_coding |
| ENST00000679482 | retained_intron |
| ENST00000679641 | nonsense_mediated_decay |
| ENST00000679669 | retained_intron |
| ENST00000679706 | protein_coding |
| ENST00000679850 | retained_intron |
| ENST00000680162 | protein_coding |
| ENST00000680216 | protein_coding |
| ENST00000680355 | protein_coding |
| ENST00000680557 | protein_coding |
| ENST00000680701 | retained_intron |
| ENST00000680768 | protein_coding |
| ENST00000680961 | nonsense_mediated_decay |
| ENST00000681026 | protein_coding |
| ENST00000681153 | protein_coding |
| ENST00000681334 | protein_coding |
| ENST00000681646 | retained_intron |
| ENST00000681654 | retained_intron |
| ENST00000681839 | protein_coding |
| ENST00000681870 | protein_coding |
| ENST00000681989 | protein_coding_CDS_not_defined |
| ENST00000682071 | protein_coding |
| ENST00000682135 | retained_intron |
| ENST00000682183 | retained_intron |
| ENST00000682207 | retained_intron |
| ENST00000682238 | protein_coding |
| ENST00000682307 | retained_intron |
| ENST00000682322 | protein_coding |
| ENST00000682437 | retained_intron |
| ENST00000682439 | retained_intron |
| ENST00000682584 | retained_intron |
| ENST00000682600 | protein_coding |
| ENST00000682746 | retained_intron |
| ENST00000682769 | protein_coding_CDS_not_defined |
| ENST00000682870 | retained_intron |
| ENST00000682899 | retained_intron |
| ENST00000682924 | nonsense_mediated_decay |
| ENST00000683117 | retained_intron |
| ENST00000683309 | protein_coding_CDS_not_defined |
| ENST00000683450 | retained_intron |
| ENST00000683503 | retained_intron |
| ENST00000683509 | protein_coding_CDS_not_defined |
| ENST00000683658 | retained_intron |
| ENST00000683675 | protein_coding_CDS_not_defined |
| ENST00000683709 | protein_coding_CDS_not_defined |
| ENST00000683851 | retained_intron |
| ENST00000683957 | protein_coding_CDS_not_defined |
| ENST00000683985 | retained_intron |
| ENST00000683995 | retained_intron |
| ENST00000684056 | retained_intron |
| ENST00000684072 | retained_intron |
| ENST00000684103 | retained_intron |
| ENST00000684130 | protein_coding |
| ENST00000684165 | retained_intron |
| ENST00000684237 | protein_coding |
| ENST00000684247 | retained_intron |
| ENST00000684292 | retained_intron |
| ENST00000684342 | retained_intron |
| ENST00000684350 | retained_intron |
| ENST00000684357 | retained_intron |
| ENST00000684660 | retained_intron |
Total: 91 transcripts (protein-coding: 46, protein_coding_CDS_not_defined: 13, retained_intron: 28, nonsense_mediated_decay: 4)
RefSeq Transcripts (NM_ mRNA accessions, 29 total)
| NM_ Accession | MANE Select |
|---|---|
| NM_000109 | — |
| NM_001005244 | — |
| NM_001005246 | — |
| NM_001314034 | — |
| NM_001314035 | — |
| NM_001314036 | — |
| NM_001314037 | — |
| NM_001314038 | — |
| NM_001326687 | — |
| NM_001370876 | — |
| NM_004006 | ✓ MANE Select |
| NM_004009 | — |
| NM_004010 | — |
| NM_004011 | — |
| NM_004012 | — |
| NM_004013 | — |
| NM_004014 | — |
| NM_004015 | — |
| NM_004016 | — |
| NM_004017 | — |
| NM_004018 | — |
| NM_004019 | — |
| NM_004020 | — |
| NM_004021 | — |
| NM_004022 | — |
| NM_004023 | — |
| NM_007868 | — |
| NM_012698 | — |
| NM_131785 | — |
Total: 29 NM_ mRNA accessions (MANE Select: NM_004006)
CCDS IDs (11 total)
- CCDS14229
- CCDS14230
- CCDS14231
- CCDS14232
- CCDS14233
- CCDS14234
- CCDS48091
- CCDS55394
- CCDS55395
- CCDS94585
- CCDS94586
MANE SELECT Transcript Exons (ENST00000357033 / NM_004006, 79 exons)
| ENSE ID | Start | End | Strand | Chromosome |
|---|---|---|---|---|
| ENSE00003901420 | 31119222 | 31121930 | − | X |
| ENSE00001158937 | 31203961 | 31204118 | − | X |
| ENSE00001158943 | 31206582 | 31206667 | − | X |
| ENSE00001158950 | 31209498 | 31209699 | − | X |
| ENSE00003988219 | 32216916 | 32217063 | − | X |
| ENSE00003988220 | 31929596 | 31929745 | − | X |
| ENSE00003988221 | 32310082 | 32310276 | − | X |
| ENSE00003988222 | 32348406 | 32348528 | − | X |
| ENSE00003988223 | 31932080 | 31932227 | − | X |
| ENSE00003988224 | 32345943 | 32346080 | − | X |
| ENSE00003988225 | 32362788 | 32362958 | − | X |
| ENSE00003988226 | 32342100 | 32342282 | − | X |
| ENSE00003988227 | 32287529 | 32287701 | − | X |
| ENSE00003988228 | 31968339 | 31968514 | − | X |
| ENSE00003988229 | 32343134 | 32343286 | − | X |
| ENSE00001157370 | 32364582 | 32364710 | − | X |
| ENSE00000978409 | 32365020 | 32365199 | − | X |
| ENSE00001435573 | 32390071 | 32390181 | − | X |
| ENSE00001435218 | 32389501 | 32389674 | − | X |
| ENSE00001435954 | 32380510 | 32380680 | − | X |
| ENSE00001436039 | 32386310 | 32386465 | − | X |
| ENSE00001435906 | 32463439 | 32463594 | − | X |
| ENSE00001436271 | 32464586 | 32464699 | − | X |
| ENSE00001435146 | 32441180 | 32441314 | − | X |
| ENSE00001435151 | 32484919 | 32485099 | − | X |
| ENSE00001435180 | 32468498 | 32468710 | − | X |
| ENSE00001436731 | 32454662 | 32454832 | − | X |
| ENSE00001436545 | 32448456 | 32448638 | − | X |
| ENSE00001436655 | 32501755 | 32501842 | − | X |
| ENSE00001435605 | 32545159 | 32545334 | − | X |
| ENSE00001434995 | 32697870 | 32697998 | − | X |
| ENSE00001436506 | 32699112 | 32699293 | − | X |
| ENSE00001436512 | 32491277 | 32491518 | − | X |
| ENSE00001435583 | 32472164 | 32472309 | − | X |
| ENSE00001435581 | 32644964 | 32645152 | − | X |
| ENSE00001435687 | 32644132 | 32644313 | − | X |
| ENSE00001435796 | 32614303 | 32614453 | − | X |
| ENSE00003988224 | 32345943 | 32346080 | − | X |
| ENSE00001436267 | 32518008 | 32518131 | − | X |
| ENSE00001434823 | 32565702 | 32565881 | − | X |
| ENSE00003639921 | 32573745 | 32573846 | − | X |
| ENSE00001479014 | 32573530 | 32573637 | − | X |
| ENSE00003691097 | 32849728 | 32849820 | − | X |
| ENSE00001640206 | 32844783 | 32844860 | − | X |
| ENSE00001789498 | 32816468 | 32816640 | − | X |
| ENSE00001685282 | 32823295 | 32823387 | − | X |
| ENSE00001436742 | 32595757 | 32595876 | − | X |
| ENSE00001434999 | 32438241 | 32438390 | − | X |
| ENSE00001436039 | 32386310 | 32386465 | − | X |
| ENSE00003988221 | 32310082 | 32310276 | − | X |
| ENSE00001258641 | 31627673 | 31627862 | − | X |
| ENSE00001213215 | 31729631 | 31729748 | − | X |
| ENSE00003592729 | 31836718 | 31836819 | − | X |
| ENSE00003687899 | 31875188 | 31875373 | − | X |
| ENSE00003988223 | 31932080 | 31932227 | − | X |
| ENSE00003988220 | 31929596 | 31929745 | − | X |
| ENSE00001259171 | 31444481 | 31444627 | − | X |
| ENSE00001259193 | 31478106 | 31478374 | − | X |
| ENSE00003675980 | 31478983 | 31479103 | − | X |
| ENSE00003669069 | 31496788 | 31496944 | − | X |
| ENSE00003500236 | 31507281 | 31507453 | − | X |
| ENSE00003554036 | 31223047 | 31223121 | − | X |
| ENSE00003637702 | 31348556 | 31348634 | − | X |
| ENSE00003620850 | 31260955 | 31261016 | − | X |
| ENSE00003693649 | 31323598 | 31323658 | − | X |
| ENSE00001158912 | 31177932 | 31177970 | − | X |
| ENSE00001034039 | 31178669 | 31178805 | − | X |
| ENSE00003569118 | 31180370 | 31180481 | − | X |
| ENSE00003669071 | 31773960 | 31774192 | − | X |
| ENSE00001034045 | 31182738 | 31182904 | − | X |
| ENSE00001034085 | 31146291 | 31146414 | − | X |
| ENSE00001436107 | 31126642 | 31126673 | − | X |
| ENSE00001158874 | 31134102 | 31134194 | − | X |
| ENSE00001158887 | 31147275 | 31147518 | − | X |
| ENSE00001158895 | 31169443 | 31169601 | − | X |
| ENSE00001158901 | 31172348 | 31172413 | − | X |
| ENSE00001158905 | 31173539 | 31173604 | − | X |
| ENSE00001213199 | 31657990 | 31658144 | − | X |
| ENSE00001258577 | 31679375 | 31679586 | − | X |
| ENSE00003639303 | 31819975 | 31820083 | − | X |
| ENSE00001434585 | 32411752 | 32411913 | − | X |
| ENSE00003463064 | 33020139 | 33020200 | − | X |
| ENSE00001899141 | 33211282 | 33211549 | − | X |
Total: 79 exons for ENST00000357033 (MANE SELECT / NM_004006)
Protein identifiers
UniProt Accessions
Human dystrophin - reviewed (canonical):
- P11532 (reviewed)
Note: Only one human UniProt entry exists. Other dystrophin entries in UniProt are from different organisms (rat: P11530, mouse: P11531, chicken: P11533, Drosophila: Q0KI50, Q9VDW6, Q9VDW3, Q7YU29).
RefSeq Protein (NP_ accessions)
Reviewed RefSeq proteins:
- NP_000100
- NP_003997 (MANE Select)
- NP_004000
- NP_004001
- NP_004002
- NP_004003
- NP_004004
- NP_004005
- NP_004006
- NP_004007
- NP_004008
- NP_004009
- NP_004010
- NP_004011
- NP_004012
- NP_004013
- NP_004014
Validated RefSeq proteins:
- NP_001005244
- NP_001005246
- NP_001357805
Reviewed (isoform variants):
- NP_001300963
- NP_001300964
- NP_001300965
- NP_001300966
- NP_001300967
Provisional RefSeq protein:
- NP_001313616
- NP_571860
Other RefSeq proteins:
- NP_031894
- NP_036830
Protein Domains and Families
InterPro (IPR) entries:
| ID | Name | Type |
|---|---|---|
| IPR000433 | Zinc finger, ZZ-type | Domain |
| IPR001202 | WW domain | Domain |
| IPR001589 | Actinin-type actin-binding domain, conserved site | Conserved Site |
| IPR001715 | Calponin homology domain | Domain |
| IPR002017 | Spectrin repeat | Repeat |
| IPR011992 | EF-hand domain pair | Homologous Superfamily |
| IPR015153 | EF-hand domain, type 1 | Domain |
| IPR015154 | EF-hand domain, type 2 | Domain |
| IPR018159 | Spectrin/alpha-actinin | Repeat |
| IPR035436 | Dystrophin/utrophin | Family |
| IPR036020 | WW domain superfamily | Homologous Superfamily |
| IPR036872 | CH domain superfamily | Homologous Superfamily |
| IPR043145 | Zinc finger, ZZ-type superfamily | Homologous Superfamily |
| IPR050774 | KCMF1 and Dystrophin | Family |
Pfam (PF) entries:
- PF00307
- PF00397
- PF00435
- PF00569
- PF09068
- PF09069
SMART (SM) entries:
- SM00033
- SM00150
- SM00291
- SM00456
Antibody Availability
No antibody resources are currently mapped in the biobtree database for human dystrophin. However, commercial antibody sources exist for dystrophin detection (e.g., from immunology suppliers), which should be verified through external antibody databases (e.g., Antibodies Online, Abcam, Santa Cruz Biotechnology).
Structure
Experimental structures: 5 PDB entries (all X-ray crystallography)
| PDB ID | Title | Method | Resolution (Å) |
|---|---|---|---|
| 1DXX | N-terminal Actin-binding Domain of Human Dystrophin | X-RAY DIFFRACTION | 2.6 |
| 1EG3 | Dystrophin WW Domain Fragment in Complex with Beta-Dystroglycan Peptide | X-RAY DIFFRACTION | 2.0 |
| 1EG4 | Dystrophin WW Domain Fragment in Complex with Beta-Dystroglycan Peptide | X-RAY DIFFRACTION | 2.0 |
| 3UUN | N-terminal First Spectrin Repeat of Dystrophin | X-RAY DIFFRACTION | 2.3 |
| 9D58 | Tandem Calponin Homology Actin-binding Domain (Closed-state Conformation) | X-RAY DIFFRACTION | 1.94 |
Total experimental structures: 5
Predicted structure:
- Model ID: AF-P11532-F1
- Database: AlphaFold2
- Coverage: Full-length (3,685 residues)
- pLDDT: Not retrieved from biobtree (recommend checking AlphaFold Database directly for confidence metrics)
Based on my search through the biobtree database, I found orthologs for human DMD in several organisms. For Drosophila and yeast, there do not appear to be clear orthologous genes in the database.
Cross-species orthologs
| Organism | Gene ID | Symbol |
|---|---|---|
| Mouse (Mus musculus) | 13405 | Dmd |
| Rat (Rattus norvegicus) | 24907 | Dmd |
| Zebrafish (Danio rerio) | 83773 | dmd |
| Fruit fly (Drosophila melanogaster) | none | none |
| Worm (C. elegans) | 173038 | dys-1 |
| Yeast (S. cerevisiae) | none | none |
Clinical variants & AI predictions
Clinical Variants (ClinVar)
Summary
- Total variants: ~11,261
- Associated conditions: Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), dilated cardiomyopathy
Classification Breakdown (sample-based estimate from reviewed entries)
| Classification | Status |
|---|---|
| Uncertain significance | Predominant (~50-60%) |
| Conflicting classifications | ~10-15% |
| Likely benign | ~10-15% |
| Pathogenic / Likely pathogenic | ~5-10% |
| Benign | <5% |
Top Pathogenic/Likely Pathogenic Variants (representative samples)
| Variant ID | HGVS Notation | Condition |
|---|---|---|
| 1001786 | NM_004006.3(DMD):c.2400C>A (p.Ser800Arg) | Duchenne/Becker muscular dystrophy |
| 1003542 | NM_004006.3(DMD):c.5684A>T (p.Asp1895Val) | Duchenne/Becker muscular dystrophy, dilated cardiomyopathy |
| 1003878 | NM_004006.3(DMD):c.961-4del | Duchenne/Becker muscular dystrophy |
| 1003362 | NM_004006.3(DMD):c.10951G>A (p.Asp3651Asn) | Duchenne/Becker muscular dystrophy |
| 1004650 | NM_004006.3(DMD):c.4705T>C (p.Cys1569Arg) | Duchenne/Becker muscular dystrophy |
AI-Based Variant Effect Predictions
Splice Effect Predictions (SpliceAI)
- Total predictions: 7,041
- Effect types: donor_gain, donor_loss, acceptor_gain, acceptor_loss
- Score range: 0.20–0.95
Top 30 SpliceAI Predictions (by score)
| Position | Variant | Gene | Effect | Score |
|---|---|---|---|---|
| 1 | X:31121931:C:CC | DMD | acceptor_gain | 0.95 |
| 2 | X:31121927:TGTC:T | DMD | acceptor_gain | 0.90 |
| 3 | X:31121928:GTC:G | DMD | acceptor_gain | 0.86 |
| 4 | X:31121766:A:AC | DMD | donor_gain | 0.86 |
| 5 | X:31121767:C:CC | DMD | donor_gain | 0.86 |
| 6 | X:31121758:AAACT:A | DMD | donor_gain | 0.72 |
| 7 | X:31126709:A:T | DMD | acceptor_gain | 0.95 |
| 8 | X:31121929:TC:T | DMD | acceptor_gain | 0.81 |
| 9 | X:31121930:CC:C | DMD | acceptor_gain | 0.81 |
| 10 | X:31126708:C:CT | DMD | acceptor_gain | 0.82 |
| 11 | X:31121276:G:C | DMD | donor_gain | 0.54 |
| 12 | X:31121762:T:TA | DMD | donor_gain | 0.52 |
| 13 | X:31121768:T:C | DMD | donor_gain | 0.60 |
| 14 | X:31126639:A:T | DMD | acceptor_gain | 0.76 |
| 15 | X:31126676:T:TC | DMD | acceptor_gain | 0.22 |
| 16–30 | (additional variants with scores 0.20–0.75) | DMD | mixed | 0.20–0.75 |
AlphaMissense Pathogenicity Predictions
- Total likely_pathogenic variants: 100+ (pagination available)
- Pathogenicity score range: 0.565–1.000
- Classification: am_class=“likely_pathogenic”
Top 30 Likely Pathogenic Missense Variants (by am_pathogenicity score)
| Position | Genomic Position | Protein Variant | am_pathogenicity | Interpretation |
|---|---|---|---|---|
| 1 | X:31147294:A:G | L3593P | 1.000 | Highest confidence |
| 2 | X:31147290:C:A | R3594S | 0.997 | Very high confidence |
| 3 | X:31147290:C:G | R3594S | 0.997 | Very high confidence |
| 4 | X:31147296:C:A | R3592S | 0.997 | Very high confidence |
| 5 | X:31147296:C:G | R3592S | 0.997 | Very high confidence |
| 6 | X:31147294:A:C | L3593R | 0.997 | Very high confidence |
| 7 | X:31147291:C:A | R3594M | 0.995 | Very high confidence |
| 8 | X:31147291:C:G | R3594T | 0.995 | Very high confidence |
| 9 | X:31147297:C:A | R3592M | 0.995 | Very high confidence |
| 10 | X:31147297:C:G | R3592T | 0.995 | Very high confidence |
| 11 | X:31147282:A:G | L3597P | 0.998 | Very high confidence |
| 12 | X:31147285:A:G | L3596P | 0.999 | Very high confidence |
| 13 | X:31147294:A:T | L3593Q | 0.999 | Very high confidence |
| 14 | X:31147282:A:T | L3597Q | 0.991 | Very high confidence |
| 15 | X:31147298:T:C | R3592G | 0.992 | Very high confidence |
| 16 | X:31147288:T:G | Q3595P | 0.982 | Very high confidence |
| 17 | X:31147282:A:C | L3597R | 0.980 | Very high confidence |
| 18 | X:31134149:A:G | L3656S | 0.977 | High confidence |
| 19 | X:31147295:G:C | L3593V | 0.976 | High confidence |
| 20 | X:31147285:A:C | L3596R | 0.973 | High confidence |
| 21 | X:31147292:T:A | R3594W | 0.965 | High confidence |
| 22 | X:31147300:T:G | H3591P | 0.955 | High confidence |
| 23 | X:31134116:A:G | F3667S | 0.952 | High confidence |
| 24 | X:31134116:A:C | F3667C | 0.941 | High confidence |
| 25 | X:31134128:A:G | L3663P | 0.978 | High confidence |
| 26 | X:31134128:A:T | L3663H | 0.970 | High confidence |
| 27 | X:31146310:A:C | S3634R | 0.919 | High confidence |
| 28 | X:31146310:A:T | S3634R | 0.919 | High confidence |
| 29 | X:31134128:A:C | L3663R | 0.926 | High confidence |
| 30 | X:31134115:G:C | F3667L | 0.984 | Very high confidence |
Pathways & Gene Ontology
Biological Pathways
Reactome Pathways: 3 total
| Pathway ID | Pathway Name |
|---|---|
| R-HSA-3000171 | Non-integrin membrane-ECM interactions |
| R-HSA-390522 | Striated Muscle Contraction |
| R-HSA-9913351 | Formation of the dystrophin-glycoprotein complex (DGC) |
MSigDB Gene Sets: 789 total
Distribution by collection:
- C2 (Curated pathways/databases): ~20 sets (KEGG, etc.)
- C3 (Regulatory targets): ~400 sets (transcription factor binding sites, miRNA targets)
- C4 (Computational): ~100 sets (cancer modules, gene neighborhoods)
- C5 (GO terms): ~269 sets (GO biological process, molecular function, cellular component)
Notable C2/pathway-related sets from DMD membership:
- KEGG_VIRAL_MYOCARDITIS
- KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC
Gene Ontology Annotations
Biological Process: 25 terms
| GO ID | Term |
|---|---|
| GO:0002027 | regulation of heart rate |
| GO:0007517 | muscle organ development |
| GO:0007519 | skeletal muscle tissue development |
| GO:0008104 | intracellular protein localization |
| GO:0010880 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum |
| GO:0010881 | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion |
| GO:0010976 | positive regulation of neuron projection development |
| GO:0014809 | regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion |
| GO:0014819 | regulation of skeletal muscle contraction |
| GO:0035633 | maintenance of blood-brain barrier |
| GO:0035994 | response to muscle stretch |
| GO:0043043 | peptide biosynthetic process |
| GO:0044458 | motile cilium assembly |
| GO:0045666 | positive regulation of neuron differentiation |
| GO:0046716 | muscle cell cellular homeostasis |
| GO:0048666 | neuron development |
| GO:0055001 | muscle cell development |
| GO:0060048 | cardiac muscle contraction |
| GO:0065003 | protein-containing complex assembly |
| GO:0086001 | cardiac muscle cell action potential |
| GO:0090257 | regulation of muscle system process |
| GO:0090287 | regulation of cellular response to growth factor stimulus |
| GO:0099536 | synaptic signaling |
| GO:1902305 | regulation of sodium ion transmembrane transport |
| GO:1903169 | regulation of calcium ion transmembrane transport |
Molecular Function: 8 terms
| GO ID | Term |
|---|---|
| GO:0002162 | dystroglycan binding |
| GO:0003779 | actin binding |
| GO:0005200 | structural constituent of cytoskeleton |
| GO:0008270 | zinc ion binding |
| GO:0008307 | structural constituent of muscle |
| GO:0017022 | myosin binding |
| GO:0017166 | vinculin binding |
| GO:0050998 | nitric-oxide synthase binding |
Cellular Component: 18 terms
| GO ID | Term |
|---|---|
| GO:0005634 | nucleus |
| GO:0005829 | cytosol |
| GO:0005856 | cytoskeleton |
| GO:0005886 | plasma membrane |
| GO:0009986 | cell surface |
| GO:0016010 | dystrophin-associated glycoprotein complex |
| GO:0016013 | syntrophin complex |
| GO:0030018 | Z disc |
| GO:0030055 | cell-substrate junction |
| GO:0030175 | filopodium |
| GO:0031527 | filopodium membrane |
| GO:0032991 | protein-containing complex |
| GO:0042383 | sarcolemma |
| GO:0043034 | costamere |
| GO:0044306 | neuron projection terminus |
| GO:0045121 | membrane raft |
| GO:0045202 | synapse |
| GO:0045211 | postsynaptic membrane |
Protein interactions & networks
Protein-protein interactions
Total interaction count: ~2,170 interactions (STRING database)
TOP 30 highest-confidence interacting proteins (STRING scores 0-1000):
| Rank | Uniprot ID | Gene Symbol | STRING Score | Evidence |
|---|---|---|---|---|
| 1 | Q14118 | SYNM | 999 | Multiple evidence types |
| 2 | P46939 | DTNB | 972 | Dystrophin-associated protein |
| 3 | Q13424 | UTRN | 966 | Utrophin, DMD homolog |
| 4 | Q13326 | SNTB1 | 965 | Syntrophin beta-1 |
| 5 | Q92629 | SNTG2 | 965 | Syntrophin gamma-2 |
| 6 | O75923 | SNTA1 | 959 | Syntrophin alpha-1 |
| 7 | P24043 | DTNA | 957 | Dystrophin-associated protein alpha |
| 8 | Q13884 | CTNNAL1 | 956 | Catenin alpha-like 1 |
| 9 | Q9Y4J8 | DAG1 | 936 | Beta-dystroglycan |
| 10 | P18206 | CTNNA1 | 933 | Catenin alpha-1 |
| 11 | Q9NSN8 | HAUS1 | 932 | SPL assembly factor |
| 12 | Q16585 | SNTB2 | 923 | Syntrophin beta-2 |
| 13 | O00468 | LYPLA1 | 912 | Lysophospholipase |
| 14 | P78508 | GOSR2 | 907 | SNARE protein |
| 15 | P56539 | SNTG1 | 901 | Syntrophin gamma-1 |
| 16 | Q15149 | ABLIM1 | 897 | LIM actin-binding protein |
| 17 | P29475 | NOS1 | 895 | Nitric oxide synthase |
| 18 | Q13425 | CHRNA1 | 868 | Nicotinic acetylcholine receptor |
| 19 | Q14315 | NEB | 856 | Nebulin |
| 20 | Q8WZ42 | SPTAN1 | 849 | Spectrin alpha |
| 21 | P02593 | COL4A1 | 830 | Collagen IV alpha-1 |
| 22 | Q9NY99 | ITGA7 | 830 | Integrin alpha-7 |
| 23 | P20929 | CTNND1 | 829 | Catenin delta-1 |
| 24 | P27482 | ANK1 | 827 | Ankyrin-1 |
| 25 | Q8TD86 | MACF1 | 827 | Microtubule-actin crosslinker |
| 26 | Q96GE6 | CCDC88C | 827 | Coiled-coil protein |
| 27 | Q9NZT1 | DLG3 | 827 | Disc-large homolog 3 |
| 28 | Q9UBF9 | DCAF8 | 826 | DCAF8 protein |
| 29 | Q9Y4G6 | KLHL41 | 825 | Kelch-like protein 41 |
| 30 | P02571 | COL4A2 | 670 | Collagen IV alpha-2 |
Additional databases: BioGRID (175 interactions), IntAct (131 interactions with confidence scores 0.37-0.89)
Protein similarity
Structural/embedding similarity (ESM2 embeddings): 64 similar proteins identified
TOP 20 structurally similar proteins (highest max similarity scores):
| Rank | Uniprot ID | Max Similarity | Avg Similarity | Notes |
|---|---|---|---|---|
| 1 | A2CG49 | 1.0000 | 0.9857 | Dystrophin isoform |
| 2 | O75962 | 1.0000 | 0.9861 | Spectrin-like protein |
| 3 | F1M0Z1 | 1.0000 | 0.9861 | Dystrophin-related |
| 4 | P0CE94 | 1.0000 | 0.9858 | Conserved ortholog |
| 5 | P0CE95 | 1.0000 | 0.9858 | Conserved ortholog |
| 6 | Q0KL02 | 1.0000 | 0.9861 | Dystrophin variant |
| 7 | Q71LX4 | 1.0000 | 0.9857 | Large muscle protein |
| 8 | D3ZHV2 | 0.9999 | 0.9899 | Rod domain protein |
| 9 | P11531 | 0.9999 | 0.9887 | Dystrophin isoform |
| 10 | P11532 | 0.9998 | 0.9888 | DMD protein (self) |
| 11 | O97592 | 0.9998 | 0.9888 | Dystrophin ortholog |
| 12 | Q9QXZ0 | 0.9999 | 0.9898 | Muscle-associated protein |
| 13 | P30427 | 0.9999 | 0.9869 | Actin-binding protein |
| 14 | P15924 | 0.9998 | 0.9848 | Myosin-related |
| 15 | E9Q557 | 0.9999 | 0.9852 | Cytoplasmic protein |
| 16 | E9Q8Q6 | 0.9997 | 0.9834 | Muscle protein |
| 17 | Q5GN48 | 0.9998 | 0.9887 | Conserved domain protein |
| 18 | Q8NF91 | 0.9997 | 0.9890 | Rod-like structure |
| 19 | Q6ZWR6 | 0.9997 | 0.9890 | Actin interaction protein |
| 20 | O60437 | 0.9997 | 0.9865 | Muscle dystrophy-related |
Sequence homology (DIAMOND/BLASTP): 120 homologous proteins identified
TOP 20 sequence homologs (highest sequence identity %):
| Rank | Uniprot ID | Identity % | Bitscore | Alignment Quality |
|---|---|---|---|---|
| 1 | Q9UPN3 | 100.00 | 10401 | Perfect match/isoform |
| 2 | Q0KI50 | 100.00 | 1834 | Identical protein |
| 3 | Q9QXZ0 | 99.80 | 1803 | Near-identical |
| 4 | D3ZHA0 | 99.30 | 5460 | High conservation |
| 5 | D3ZBP4 | 99.10 | 1797 | Splice variant |
| 6 | P12814 | 99.90 | 1774 | Ortholog |
| 7 | Q7TPR4 | 99.30 | 1763 | Rod domain |
| 8 | Q2PFV7 | 99.90 | 1774 | Conserved sequence |
| 9 | Q3ZC55 | 98.90 | 1740 | High similarity |
| 10 | P57780 | 98.90 | 1781 | Muscle isoform |
| 11 | Q01082 | 98.30 | 4398 | Strong alignment |
| 12 | O43707 | 99.80 | 1804 | Full-length homolog |
| 13 | P05094 | 98.30 | 1740 | Cysteine-rich region |
| 14 | Q62261 | 98.30 | 4403 | Conserved domain |
| 15 | Q9QXS1 | 96.60 | 5404 | Moderate conservation |
| 16 | P21333 | 97.10 | 5162 | Structural homolog |
| 17 | P30427 | 96.60 | 5401 | Actin-binding domain |
| 18 | P11530 | 96.20 | 6642 | Related dystrophin |
| 19 | P11531 | 96.20 | 6636 | Dystrophin isoform |
| 20 | O75369 | 97.60 | 5066 | Strong homology |
Transcription factor regulatory data
DMD is not a transcription factor. The DMD gene encodes dystrophin, a structural cytoplasmic protein involved in the dystrophin-associated protein complex that anchors the cytoskeleton to the cell membrane. It has no known DNA-binding or transcriptional regulatory functions.
Upstream Regulators
Transcription factors regulating DMD expression:
| TF | Regulation | Evidence/Confidence |
|---|---|---|
| MYOD1 | Activation | High |
| SP1 | Activation | High |
| SP3 | Activation | High |
| SRF | Unknown | High |
| TFAP2A | Unknown | High |
| YY1 | Unknown | High |
| HR | Unknown | Low |
Note: Data source: CollecTRI database. Evidence confidence indicates experimental validation level; specific evidence types (ChIP-seq/experimentally validated/predicted) are not differentiated in the current dataset. MYOD1, SP1, and SP3 are the best-characterized regulators with activation-level evidence.
Drug & pharmacology data
DMD is a known drug target. The dystrophin (DMD) gene underlying Duchenne muscular dystrophy has 96 molecules in active development and clinical use across ChEMBL and clinical trial data.
Targeting Molecules (Total: 96 in trials)
Top 30 by development phase:
Phase 4 (Approved, 36 molecules):
- ETEPLIRSEN (Oligonucleotide) – exon-skipping; restore dystrophin reading frame
- VILTOLARSEN (Oligonucleotide) – exon 53-skipping morpholino
- GOLODIRSEN (Oligonucleotide) – exon 53-skipping
- CASIMERSEN (Oligonucleotide) – exon 45-skipping
- DELANDISTROGENE MOXEPARVOVEC (Gene therapy) – AAV-mediated microdystrophin
- DEFLAZACORT (Small molecule) – corticosteroid; anti-inflammatory
- VAMOROLONE (Small molecule) – nonsteroidal anti-inflammatory; utrophin stabilizer
- ATALUREN (Small molecule) – nonsense mutation readthrough; restore full-length dystrophin
- GIVINOSTAT (Small molecule) – histone deacetylase (HDAC) inhibitor; reduce fibrosis
- PREDNISONE (Small molecule) – corticosteroid; standard of care
- PREDNISOLONE (Small molecule) – corticosteroid
- CARVEDILOL (Small molecule) – beta-blocker; cardioprotection
- RAMIPRIL (Small molecule) – ACE inhibitor; cardioprotection
- LISINOPRIL (Small molecule) – ACE inhibitor
- SILDENAFIL (Small molecule) – phosphodiesterase-5 inhibitor; vasodilation
- TADALAFIL (Small molecule) – phosphodiesterase-5 inhibitor
- IDEBENONE (Small molecule) – antioxidant; cardiac protection
- BISOPROLOL (Small molecule) – beta-blocker; cardioprotection
- METOPROLOL SUCCINATE (Small molecule) – beta-blocker
- SPIRONOLACTONE (Small molecule) – aldosterone antagonist; cardioprotection
- GLUTAMINE (Small molecule) – amino acid; muscle metabolism
- SATRALIZUMAB (Antibody) – IL-6 pathway inhibitor
- GENTAMICIN (Small molecule) – nonsense suppressor aminoglycoside
- PENTOXIFYLLINE (Small molecule) – rheological agent; anti-inflammatory
- IBUPROFEN (Small molecule) – NSAID
- ISOSORBIDE DINITRATE (Small molecule) – nitrate; vasodilation
- LOSARTAN (Small molecule) – angiotensin II receptor antagonist
- NEBIVOLOL (Small molecule) – beta-blocker; cardioprotection
- EPLERENONE (Small molecule) – aldosterone antagonist
- TAMOXIFEN (Small molecule) – estrogen receptor modulator; utrophin induction
Phase 3 (10 molecules):
- TALDEFGROBEP ALFA (Protein) – activin A inhibitor; reduce fibrosis
- FORDADISTROGENE MOVAPARVOVEC (Gene therapy) – AAV-mediated microdystrophin
- EDASALONEXENT (Small molecule) – NF-κB inhibitor
- RAMATERCEPT (Protein) – TNF-α receptor antagonist
- DOMAGROZUMAB (Antibody) – myostatin/GDF8 inhibitor
- EPIGALOCATECHIN GALLATE (Small molecule) – antioxidant
- UBIDECARENONE (Small molecule) – CoQ10; antioxidant
- ARGININE (Small molecule) – amino acid; vasodilation
- GLUCAGON-LIKE PEPTIDE II (Protein) – gut hormone; metabolic support
- ARTENIMOL (Small molecule) – antimalarial derivative
Phase 2 (15 molecules):
- SUVODIRSEN (Oligonucleotide) – exon 51-skipping
- DRISAPERSEN (Oligonucleotide) – exon 51-skipping morpholino
- VESLETEPLIRSEN (Oligonucleotide) – exon 53-skipping
- BROGIDIRSEN (Oligonucleotide) – exon 53-skipping
- DERAMIOCEL (Cell therapy) – allogeneic cardiosphere-derived cells
- HALOFUGINONE (Small molecule) – TGF-β inhibitor; anti-fibrotic
- EZUTROMID (Small molecule) – dystrophin translocation enhancer
- BOCIDELPAR (Small molecule) – NF-κB inhibitor
- RIMEPORIDE (Small molecule) – cardiac sodium-calcium exchanger inhibitor
- OMPENACLID (Small molecule) – phosphatidylserine-targeted therapy
- OXATOMIDE (Small molecule) – mast cell stabilizer
- FLAVOCOXID (Unknown) – flavonoid antioxidant
- DEXMEDETOMIDINE (Small molecule) – alpha-2 agonist
- MEDETOMIDINE (Small molecule) – alpha-2 agonist
- DOCONEXENT (Small molecule) – fatty acid derivative
Clinical Trials (Top 20 by status/phase):
- NCT05096221 – Gene therapy (Delandistrogene moxeparvovec/SRP-9001) | COMPLETED | Phase 3 | Ambulatory & non-ambulatory
- NCT04060199 – Viltolarsen (RACER53) | COMPLETED | Phase 3 | Ambulatory boys
- NCT02851797 – Givinostat | COMPLETED | Phase 3 | Ambulatory patients
- NCT03703882 – Edasalonexent | COMPLETED | Phase 3 | Ambulatory boys
- NCT02500381 – Casimersen & Golodirsen | COMPLETED | Phase 3 | DMD patients
- NCT01826487 – Ataluren (nonsense mutation) | COMPLETED | Phase 3 | nmDMD
- NCT02255552 – Eteplirsen | COMPLETED | Phase 3 | DMD patients
- NCT01557400 – Ataluren (Europe/Israel/Australia/Canada) | COMPLETED | Phase 3 | nmDBMD
- NCT04587908 – TAS-205 (REACH-DMD) | ACTIVE_NOT_RECRUITING | Phase 3 | DMD patients
- NCT05881408 – Delandistrogene moxeparvovec (SRP-9001) | ACTIVE_NOT_RECRUITING | Phase 3 | Non-ambulatory & ambulatory
- NCT07160634 – SGT-003 gene therapy (IMPACT DUCHENNE) | RECRUITING | Phase 3 | Ambulant males
- NCT05933057 – Givinostat | RECRUITING | Phase 3 | Non-ambulant patients
- NCT04281485 – PF-06939926 (gene therapy candidate) | ACTIVE_NOT_RECRUITING | Phase 3 | DMD
- NCT03992430 – High-dose Eteplirsen (MIS51ON) | ACTIVE_NOT_RECRUITING | Phase 3 | DMD
- NCT05126758 – Deramiocel (CAP-1002) | ACTIVE_NOT_RECRUITING | Phase 3 | Ambulatory & non-ambulatory
- NCT03373968 – Givinostat long-term safety | RECRUITING | Phase 2/3 | DMD
- NCT05195775 – Tadalafil as adjuvant therapy | ACTIVE_NOT_RECRUITING | Phase 2/3 | DMD
- NCT05693142 – RGX-202 gene therapy (AFFINITY DUCHENNE) | RECRUITING | Phase 2/3 | DMD
- NCT04768062 – Viltolarsen (RACER53-X) | ACTIVE_NOT_RECRUITING | Phase 3 | Ambulant boys
- NCT05066633 – Metoprolol (add-on to standard care) | RECRUITING | Phase 3 | Cardioprotection
Pharmacogenomics & Dosing Guidelines
No specific DMD pharmacogenomics interaction database entries found in available datasets. However, key clinical considerations:
- Exon-skipping drugs (eteplirsen, viltolarsen, golodirsen, casimersen, drisapersen): Efficacy depends on DMD mutation type; benefit restricted to patients with mutations amenable to specific exon-skipping strategies. Genetic sequencing of DMD mutations is required for patient selection.
- Gene therapies (delandistrogene moxeparvovec): Require absence of pre-existing AAV neutralizing antibodies (AAV serotype-dependent).
- Corticosteroids (prednisone, deflazacort, vamorolone): Standard dosing established; vamorolone designed to reduce steroid side effects.
- Ataluren (nonsense readthrough): Efficacy limited to nonsense (stop-codon) mutations (~13% of DMD cases).
Pharmacogenomics at gene level: HGNC:2928 (DMD) has 1 xref to PharmGKB, indicating documented but limited pharmacogenomics annotations in standard databases. Dosing is primarily phenotype-driven (ambulatory status, cardiac function) rather than genotype-driven beyond mutation-type stratification.
Based on the biobtree data I’ve retrieved, here’s the comprehensive expression profile for DMD:
Expression profiles
Tissue Expression (Bgee database)
DMD shows ubiquitous expression across human tissues (295 present calls, max expression score 98.90). Top 30 tissues/conditions by expression score:
| Tissue | Expression Score | Quality |
|---|---|---|
| Trigeminal ganglion | 98.90 | Gold |
| Skeletal muscle tissue of rectus abdominis | 98.70 | Gold |
| Dorsal root ganglion | 98.12 | Gold |
| Seminal vesicle | 97.61 | Gold |
| Sural nerve | 97.47 | Gold |
| Biceps brachii | 97.46 | Gold |
| Vastus lateralis | 97.34 | Gold |
| Skeletal muscle tissue of biceps brachii | 97.29 | Gold |
| Blood vessel layer | 97.19 | Gold |
| Quadriceps femoris | 96.94 | Gold |
| Endothelial cell | 96.73 | Gold |
| Saphenous vein | 96.67 | Gold |
| Body of tongue | 96.58 | Gold |
| Cardiac muscle of right atrium | 96.49 | Gold |
| Left ventricle myocardium | 96.48 | Gold |
| Skeletal muscle tissue | 96.45 | Gold |
| Cauda epididymis | 96.42 | Gold |
| Myocardium | 96.28 | Gold |
| Tibial nerve | 96.25 | Gold |
| Tibialis anterior | 96.21 | Gold |
| Heart right ventricle | 96.17 | Gold |
| Colonic epithelium | 95.89 | Gold |
| Vena cava | 95.86 | Gold |
| Muscle tissue | 95.68 | Gold |
| Hindlimb stylopod muscle | 95.51 | Gold |
| Skeletal muscle organ | 95.39 | Gold |
| Muscle organ | 95.38 | Gold |
| Secondary oocyte | 95.31 | Gold |
| Deltoid | 95.20 | Gold |
| Choroid plexus epithelium | 95.11 | Gold |
Expression pattern: Strong enrichment in skeletal muscle, cardiac muscle, and peripheral nervous system (nerves, ganglia). High expression in vascular tissues (endothelium, blood vessels).
Single-Cell Expression: Notable Datasets
GTEx snRNAseq atlas (E-ANND-2): 209,126 cells from multiple tissues
- Muscle-enriched cell types: myocyte—skeletal muscle, myocyte—cardiac (fast/slow-twitch), myoepithelial cells
- Nervous system: Schwann cells (I, II), neuronal cells, satellite cells
- Vascular: endothelial cells (cardiac microvascular, lymphatic, vascular subtypes), pericyte/smooth muscle cells
- Other tissues: fibroblasts, adipocytes, immune cells (macrophages, T/B cells)
- Tissues sampled: Skeletal muscle, heart, skin, breast, lung, esophagus, prostate
DMD ranked #30 among marker genes (score: 46.02, log fold change: 0.92), indicating consistent expression across the diverse cell populations.
Other notable single-cell datasets linking to DMD: COVID-19 peripheral immune response, pancreatic islet cells, hypertrophied heart atlas, fetal liver, retina, and neural tissues—consistent with DMD’s role in multiple cell types beyond skeletal muscle.
Key Patterns
- Ubiquitous but tissue-enriched: Present in virtually all tissues but highest in muscle (skeletal, cardiac) and nervous system tissues
- Cell-type specificity: Strong expression in myocytes and endothelial cells; present but variable in fibroblasts, immune cells, and epithelial cells
- Functional relevance: Pattern reflects dystrophin’s roles in muscle contraction, neuromuscular junction integrity, and vascular function
Disease associations
Mendelian / Monogenic Diseases
| Disease Name | OMIM/Orphanet/Mondo | Inheritance Pattern | Evidence Level | Gene Source |
|---|---|---|---|---|
| Duchenne muscular dystrophy | OMIM:310200 / Orphanet:98896 / MONDO:0010679 | X-linked | Definitive | GENCC, ClinVar |
| Becker muscular dystrophy | OMIM:300376 / Orphanet:98895 / MONDO:0010311 | X-linked | Definitive | GENCC, ClinVar |
| Dilated cardiomyopathy 3B | OMIM:302045 / MONDO:0010542 | X-linked | Definitive | GENCC, ClinVar |
| Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | Orphanet:206546 / MONDO:0016899 | X-linked | Supportive | GENCC, ClinVar |
| Familial isolated dilated cardiomyopathy | Orphanet:154 / MONDO:0016333 | Autosomal dominant | Supportive | GENCC, ClinVar |
| Non-syndromic X-linked intellectual disability | Orphanet:777 | X-linked | Supportive | GENCC, ClinVar |
| Duchenne and Becker muscular dystrophy | Orphanet:262 / MONDO:0016899 | X-linked | Definitive | GENCC, ClinVar |
Additional related Mondo conditions linked via ClinVar: cardiomyopathy (MONDO:0004994), neuromuscular disease caused by qualitative or quantitative defects of dystrophin (MONDO:0016147), progressive muscular dystrophy (MONDO:0106), dilated cardiomyopathy (MONDO:0005021), muscular dystrophy (MONDO:0020121), familial dilated cardiomyopathy (MONDO:0016333), familial restrictive cardiomyopathy (MONDO:0016340).
Phenotype Associations (HPO Terms - Top 30)
| HPO ID | Phenotype | HPO ID | Phenotype |
|---|---|---|---|
| HP:0001417 | X-linked inheritance | HP:0002938 | Lumbar hyperlordosis |
| HP:0001324 | Muscle weakness | HP:0002942 | Thoracic kyphosis |
| HP:0003560 | Muscular dystrophy | HP:0002943 | Thoracic scoliosis |
| HP:0003701 | Proximal muscle weakness | HP:0003391 | Gowers sign |
| HP:0003236 | Elevated circulating creatine kinase concentration | HP:0003323 | Progressive muscle weakness |
| HP:0001638 | Cardiomyopathy | HP:0003324 | Generalized muscle weakness |
| HP:0001644 | Dilated cardiomyopathy | HP:0001435 | Abnormality of the shoulder girdle musculature |
| HP:0002505 | Loss of ambulation | HP:0003202 | Skeletal muscle atrophy |
| HP:0003707 | Calf muscle pseudohypertrophy | HP:0002650 | Scoliosis |
| HP:0002515 | Waddling gait | HP:0006380 | Knee flexion contracture |
| HP:0001635 | Congestive heart failure | HP:0002380 | Fasciculations |
| HP:0002540 | Inability to walk | HP:0008981 | Calf muscle hypertrophy |
| HP:0001371 | Flexion contracture | HP:0001771 | Achilles tendon contracture |
| HP:0002540 | Inability to walk | HP:0002194 | Delayed gross motor development |
| HP:0002527 | Falls | HP:0030097 | Absent muscle dystrophin expression |
Additional top phenotypes: respiratory insufficiency due to muscle weakness (HP:0002747), cognitive impairment (HP:0100543), elevated hepatic transaminase (HP:0002910), global developmental delay (HP:0001263), intellectual disability (HP:0001256), motor delay (HP:0001270), gait disturbance (HP:0001288), myopathy (HP:0003198).
Complex Disease / GWAS Associations (Top 11)
| GWAS Trait | P-value | Chromosome | Study ID |
|---|---|---|---|
| Mild influenza (H1N1) infection | 5.0 × 10⁻¹⁴ | X | GCST003124_19 |
| Influenza A (H1N1) infection | 4.0 × 10⁻¹¹ | X | GCST003125_11 |
| Major depressive disorder | 1.0 × 10⁻⁹ | X | GCST012304_6 |
| Body mass index | 1.0 × 10⁻⁸ | X | GCST004034_1 |
| Ankle-brachial index | 7.0 × 10⁻⁸ | X | GCST009139_1 |
| Temporomandibular joint disorder | 4.0 × 10⁻⁸ | X | GCST004034_1 |
| Waist circumference | 4.0 × 10⁻⁶ | X | GCST008151_58 / GCST008160_82 |
| Anxiety in major depressive disorder | 4.0 × 10⁻⁶ | X | GCST002202_3 |
| Itch intensity from mosquito bite | 5.0 × 10⁻⁶ | X | GCST004862_35 |
| Response to anti-depressant treatment | 2.0 × 10⁻⁶ | X | GCST001308_20 |