Detailed information for DHDDS
Basic information
| Official symbol | DMD |
|---|---|
| Official full name | dystrophin |
| Location | Xp21.2 |
| Gene type | protein-coding |
| Synonyms | BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272 |
| Quick links | Entrez ID:1756; HGNC:2928; MIM:300377; Ensembl:ENSG00000198947; HPRD:02303; Vega:OTTHUMG00000021336 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0050877 | neurological system process | 1237 | 106 | 15.39 | 6.89 | 1.82e-66 | 5.34e-64 |
| GO:0003008 | system process | 1695 | 108 | 21.09 | 5.12 | 1.12e-54 | 2.63e-52 |
| GO:0044707 | single-multicellular organism process | 5612 | 143 | 69.81 | 2.05 | 9.21e-29 | 7.72e-27 |
| GO:0032501 | multicellular organismal process | 5644 | 143 | 70.21 | 2.04 | 1.83e-28 | 1.43e-26 |
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0048646 | anatomical structure formation involved in morphogenesis | 1594 | 62 | 19.83 | 3.13 | 4.32e-17 | 1.64e-15 |
| GO:0009653 | anatomical structure morphogenesis | 2055 | 70 | 25.56 | 2.74 | 1.99e-16 | 7.08e-15 |
| GO:0030030 | cell projection organization | 934 | 46 | 11.62 | 3.96 | 2.85e-16 | 9.84e-15 |
| GO:0048856 | anatomical structure development | 4030 | 102 | 50.13 | 2.03 | 4.19e-16 | 1.33e-14 |
| GO:0000902 | cell morphogenesis | 945 | 42 | 11.76 | 3.57 | 2.49e-13 | 7.69e-12 |
| GO:0032502 | developmental process | 4572 | 104 | 56.88 | 1.83 | 3.53e-13 | 1.04e-11 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
| GO:0042995 | cell projection | 1230 | 67 | 13.42 | 4.99 | 5.15e-30 | 2.02e-28 |
| GO:0044463 | cell projection part | 639 | 42 | 6.97 | 6.03 | 2.11e-21 | 5.17e-20 |
| GO:0005856 | cytoskeleton | 1790 | 47 | 19.52 | 2.41 | 7.23e-09 | 6.16e-08 |
| GO:0044459 | plasma membrane part | 1918 | 41 | 20.92 | 1.96 | 1.68e-05 | 9.98e-05 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | KEGG | 74 | 3 | 0.33 | 9.01 | 0.0046 | 0.0158 |
| Hypertrophic cardiomyopathy (HCM) | KEGG | 83 | 3 | 0.37 | 8.04 | 0.0063 | 0.0168 |
| Dilated cardiomyopathy | KEGG | 90 | 3 | 0.40 | 7.41 | 0.0079 | 0.0190 |
| Arrhythmogenic right ventricular cardiomyopathy | WIKI | 108 | 3 | 0.49 | 6.18 | 0.0130 | 0.0357 |
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chrX | 31136344 | 32174586 | 300376 | Becker muscular dystrophy | 3 | 300377 | Xp21.2-p21.1 |
| chrX | 31136344 | 32174586 | 302045 | "Cardiomyopathy, dilated, 3B" | 3 | 300377 | Xp21.2-p21.1 |
| chrX | 31136344 | 32174586 | 310200 | Duchenne muscular dystrophy | 3 | 300377 | Xp21.2-p21.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0002873 | normal phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0003012 | no phenotypic analysis |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0003631 | nervous system phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005367 | renal/urinary system phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005369 | muscle phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005370 | liver/biliary system phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005371 | limbs/digits/tail phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005375 | adipose tissue phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005376 | homeostasis/metabolism phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005377 | hearing/vestibular/ear phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005378 | growth/size phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005379 | endocrine/exocrine gland phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005381 | digestive/alimentary phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005384 | cellular phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005385 | cardiovascular system phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005386 | behavior/neurological phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005387 | immune system phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005388 | respiratory system phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005389 | reproductive system phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005390 | skeleton phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005391 | vision/eye phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0005397 | hematopoietic system phenotype |
| chrX | 31136344 | 32174586 | 1756 | Dmd | MGI:94909 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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