DMD | OmnibusX

Name	Number of supported studies	Average coverage
smooth muscle cell	25 studies	42% ± 21%	Explore
fibroblast	17 studies	36% ± 20%	Explore
pericyte	17 studies	39% ± 22%	Explore
astrocyte	16 studies	48% ± 21%	Explore
oligodendrocyte	15 studies	59% ± 16%	Explore
oligodendrocyte precursor cell	14 studies	71% ± 22%	Explore
glutamatergic neuron	13 studies	74% ± 22%	Explore
ciliated cell	12 studies	39% ± 21%	Explore
GABAergic neuron	10 studies	67% ± 21%	Explore
endothelial cell	10 studies	46% ± 21%	Explore
neuron	9 studies	41% ± 20%	Explore
retinal rod cell	9 studies	67% ± 30%	Explore
microglial cell	9 studies	38% ± 22%	Explore
adipocyte	9 studies	82% ± 12%	Explore
retinal cone cell	7 studies	76% ± 24%	Explore
macrophage	6 studies	28% ± 12%	Explore
interneuron	6 studies	60% ± 26%	Explore
type I pneumocyte	6 studies	48% ± 8%	Explore
cardiac muscle cell	6 studies	87% ± 13%	Explore
mesothelial cell	5 studies	32% ± 17%	Explore
glial cell	5 studies	40% ± 12%	Explore
epithelial cell	5 studies	29% ± 16%	Explore
type II pneumocyte	5 studies	25% ± 8%	Explore
myofibroblast cell	5 studies	34% ± 27%	Explore
Mueller cell	4 studies	34% ± 19%	Explore
respiratory goblet cell	4 studies	30% ± 16%	Explore
muscle cell	4 studies	57% ± 32%	Explore
club cell	4 studies	22% ± 7%	Explore
mast cell	4 studies	36% ± 25%	Explore
hepatic stellate cell	3 studies	59% ± 11%	Explore
T cell	3 studies	25% ± 9%	Explore
GABAergic interneuron	3 studies	67% ± 12%	Explore
Purkinje cell	3 studies	81% ± 10%	Explore
progenitor cell	3 studies	30% ± 10%	Explore
retinal pigment epithelial cell	3 studies	18% ± 1%	Explore
GABAergic amacrine cell	3 studies	36% ± 11%	Explore
OFF-bipolar cell	3 studies	69% ± 21%	Explore
basal cell	3 studies	27% ± 3%	Explore
hepatocyte	3 studies	57% ± 19%	Explore
abnormal cell	3 studies	31% ± 14%	Explore
ependymal cell	3 studies	66% ± 8%	Explore
Schwann cell	3 studies	45% ± 18%	Explore
melanocyte	3 studies	48% ± 21%	Explore
myoepithelial cell	3 studies	65% ± 35%	Explore

Name	Number of supported studies	Average coverage
brain	17 studies	61% ± 20%	Explore
eye	9 studies	44% ± 21%	Explore
heart	6 studies	48% ± 19%	Explore
lung	3 studies	29% ± 4%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
brain	85%	1984.56	2236 / 2642	96%	8.14	676 / 705
pancreas	100%	3374.38	327 / 328	66%	2.92	117 / 178
prostate	85%	3196.31	209 / 245	79%	5.40	398 / 502
thymus	83%	1822.34	545 / 653	80%	11.94	481 / 605
adrenal gland	95%	2672.01	246 / 258	67%	3.50	154 / 230
liver	87%	2556.81	196 / 226	74%	4.53	299 / 406
breast	97%	3687.13	447 / 459	45%	2.74	500 / 1118
stomach	87%	3580.77	313 / 359	53%	3.36	152 / 286
uterus	98%	5651.34	166 / 170	34%	3.18	154 / 459
skin	69%	1697.05	1242 / 1809	61%	4.19	287 / 472
lung	72%	1479.00	416 / 578	51%	3.16	584 / 1155
ovary	97%	3164.66	175 / 180	24%	1.04	103 / 430
esophagus	68%	5117.93	983 / 1445	52%	3.61	95 / 183
intestine	80%	7225.20	777 / 966	39%	1.71	208 / 527
bladder	86%	6126.86	18 / 21	31%	1.71	157 / 504
muscle	100%	14904.76	803 / 803	0%	0	0 / 0
blood vessel	100%	10661.48	1334 / 1335	0%	0	0 / 0
adipose	98%	3805.28	1174 / 1204	0%	0	0 / 0
heart	93%	7297.29	797 / 861	0%	0	0 / 0
kidney	19%	334.66	17 / 89	63%	3.57	569 / 901
lymph node	0%	0	0 / 0	69%	7.43	20 / 29
tonsil	0%	0	0 / 0	56%	4.43	25 / 45
eye	0%	0	0 / 0	38%	1.81	30 / 80
peripheral blood	16%	457.95	144 / 929	0%	0	0 / 0
spleen	0%	5.71	1 / 241	0%	0	0 / 0
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0
ureter	0%	0	0 / 0	0%	0	0 / 1

III. Associated gene sets

GO_0035994	Biological process	response to muscle stretch
GO_0007519	Biological process	skeletal muscle tissue development
GO_0046716	Biological process	muscle cell cellular homeostasis
GO_0055001	Biological process	muscle cell development
GO_0002027	Biological process	regulation of heart rate
GO_0043043	Biological process	peptide biosynthetic process
GO_0007010	Biological process	cytoskeleton organization
GO_0086001	Biological process	cardiac muscle cell action potential
GO_0060048	Biological process	cardiac muscle contraction
GO_1901385	Biological process	regulation of voltage-gated calcium channel activity
GO_0065003	Biological process	protein-containing complex assembly
GO_0010881	Biological process	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO_0090257	Biological process	regulation of muscle system process
GO_1902083	Biological process	negative regulation of peptidyl-cysteine S-nitrosylation
GO_0048666	Biological process	neuron development
GO_0007517	Biological process	muscle organ development
GO_2000651	Biological process	positive regulation of sodium ion transmembrane transporter activity
GO_0035633	Biological process	maintenance of blood-brain barrier
GO_0099536	Biological process	synaptic signaling
GO_0014819	Biological process	regulation of skeletal muscle contraction
GO_0008104	Biological process	protein localization
GO_0010880	Biological process	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO_0033137	Biological process	negative regulation of peptidyl-serine phosphorylation
GO_0014809	Biological process	regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
GO_0060314	Biological process	regulation of ryanodine-sensitive calcium-release channel activity
GO_0005856	Cellular component	cytoskeleton
GO_0030055	Cellular component	cell-substrate junction
GO_0016013	Cellular component	syntrophin complex
GO_0045121	Cellular component	membrane raft
GO_0030018	Cellular component	Z disc
GO_0043034	Cellular component	costamere
GO_0032991	Cellular component	protein-containing complex
GO_0042383	Cellular component	sarcolemma
GO_0016010	Cellular component	dystrophin-associated glycoprotein complex
GO_0031527	Cellular component	filopodium membrane
GO_0009986	Cellular component	cell surface
GO_0030175	Cellular component	filopodium
GO_0005829	Cellular component	cytosol
GO_0045202	Cellular component	synapse
GO_0016328	Cellular component	lateral plasma membrane
GO_0045211	Cellular component	postsynaptic membrane
GO_0044306	Cellular component	neuron projection terminus
GO_0008307	Molecular function	structural constituent of muscle
GO_0017022	Molecular function	myosin binding
GO_0005200	Molecular function	structural constituent of cytoskeleton
GO_0050998	Molecular function	nitric-oxide synthase binding
GO_0002162	Molecular function	dystroglycan binding
GO_0017166	Molecular function	vinculin binding
GO_0008270	Molecular function	zinc ion binding
GO_0005515	Molecular function	protein binding
GO_0003779	Molecular function	actin binding

IV. Literature review

[source]

Gene name	DMD
Protein name	Dystrophin isoform 2 DMD protein Duchenne muscular dystrophy gene (Dystrophin) Truncated dystrophin protein Duchenne muscular dystrophy protein (Dystrophin) Alternative protein DMD DMD protein (Dystrophin) Dystrophin Dystrophin isoform 6 Dystrophin isoform 4 (cDNA FLJ60143, highly similar to Homo sapiens dystrophin, transcript variant Dp140bc, mRNA) Dystrophin isoform 1
Synonyms	dystrophin
Description	FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. . FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. .
Accessions	Q8WYF4 A0A5H1ZRQ1 ENST00000680768.2 ENST00000681334.1 Q8WYC0 A0A0S2Z3B5 Q8WYD2 ENST00000343523.7 A0A7P0Z4P7 Q8WYD3 L8E939 A0A7P0TBK1 ENST00000681839.1 P11532 A0A804HKZ5 ENST00000680961.1 A0A7P0Z4M9 ENST00000420596.5 A0A087WTU7 A0A804HL39 ENST00000378707.7 Q6PK12 A0A7P0TA90 A0A7P0Z447 Q8WYD0 A0A6B9W032 B4DSV7 A0A7P0Z4Q6 H0Y304 A0A7P0TAD9 ENST00000681870.1 ENST00000471779.1 Q9UPB5 ENST00000682322.1 ENST00000447523.1 ENST00000682924.1 Q8WYB8 Q8WYF2 ENST00000619831.5 Q8WYF5 ENST00000684237.1 ENST00000682600.1 [P11532-8] Q8WYE1 Q8WYE6 Q9UMK6 ENST00000684130.1 ENST00000680557.1 Q8WYC9 ENST00000359836.5 Q8WYB7 H0Y864 ENST00000679437.1 ENST00000681153.1 Q8WYC3 A7E212 F2WSI7 ENST00000378680.6 [P11532-9] Q8WYC1 A0A7P0TAX0 ENST00000357033.9 Q9UME2 A0A0S2Z3M6 A0A5H1ZRQ8 Q15945 ENST00000358062.7 A0A5H1ZRP8 A0A087WV90 ENST00000448370.5 Q9UMG1 ENST00000680216.1 Q8WYF1 A0A804HKY9 A0A804HJY0 A0A0S2Z3B2 A0A075B6G3 Q8WYE5 Q14172 Q548X2 F1CFE6 Q8WYE0 A0A0C4DH61 ENST00000378677.6 Q8WYC8 Q8WYD9 A0A6B9VZT5 Q8WYE7 Q9UMK8 A0A5H1ZRP9 Q8WYD4 ENST00000288447.9 ENST00000541735.5 Q9UMK7 A0A6B9W2D0 L8ECA9 Q9UEH4 ENST00000680162.2 A0A0B4J1W6 A0A804HIY5 A0A5H1ZRR9 A0A0S2Z3J7 Q8WYE4 ENST00000682238.1 A0A7P0TAW7 Q8WYD5 Q9UPB4 A0A7P0T8I2 Q14174 A0A7P0TAM6 A0A7D5DCA8 ENST00000681026.1 Q8WYD1 Q8WYE9 H0Y3E8 A0A5H1ZRP7 ENST00000680355.1 Q4G0X0 Q8WYE2 Q8WYC4 Q8WYE3 Q8WYC6 A0A7L5NSL0 Q8WYE8 ENST00000620040.5 Q7KZ40 Q8WYD7 Q16484 Q8WYD6 Q8WYD8 A0A7P0TB71 Q8WYF0 ENST00000361471.8 [P11532-5] A0A804HKR4 ENST00000679706.1 Q8WYF3 Q8TCV2 Q8WTQ2 ENST00000474231.5 ENST00000378705.3 ENST00000679641.1 A0A6B9W0D6 Q8WYB9 Q8WYC7 Q8WYC5 Q8WTT4 Q8WYF6 Q8WYC2 ENST00000493412.1 ENST00000378723.7 [P11532-6] ENST00000378702.8 [P11532-7] ENST00000682071.1

DMD report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review