EXT1 | OmnibusX

I. Expression across cell types

Name	Number of supported studies	Average coverage
endothelial cell	26 studies	41% ± 16%	Explore
fibroblast	19 studies	49% ± 23%	Explore
astrocyte	19 studies	43% ± 18%	Explore
glutamatergic neuron	13 studies	55% ± 23%	Explore
microglial cell	13 studies	34% ± 14%	Explore
macrophage	12 studies	31% ± 14%	Explore
smooth muscle cell	11 studies	39% ± 17%	Explore
GABAergic neuron	11 studies	57% ± 23%	Explore
pericyte	11 studies	45% ± 24%	Explore
oligodendrocyte precursor cell	11 studies	41% ± 10%	Explore
adipocyte	11 studies	44% ± 15%	Explore
oligodendrocyte	11 studies	29% ± 10%	Explore
epithelial cell	10 studies	36% ± 18%	Explore
mast cell	10 studies	39% ± 19%	Explore
mesothelial cell	9 studies	46% ± 16%	Explore
endothelial cell of lymphatic vessel	7 studies	35% ± 14%	Explore
neuron	6 studies	52% ± 21%	Explore
interneuron	6 studies	66% ± 14%	Explore
endothelial cell of artery	6 studies	36% ± 22%	Explore
ciliated cell	6 studies	37% ± 17%	Explore
monocyte	6 studies	38% ± 12%	Explore
capillary endothelial cell	5 studies	22% ± 6%	Explore
cardiac muscle cell	5 studies	34% ± 7%	Explore
basal cell	5 studies	55% ± 20%	Explore
club cell	5 studies	46% ± 17%	Explore
type I pneumocyte	5 studies	75% ± 9%	Explore
type II pneumocyte	5 studies	54% ± 9%	Explore
cholangiocyte	4 studies	74% ± 16%	Explore
hepatocyte	4 studies	79% ± 18%	Explore
granule cell	4 studies	46% ± 7%	Explore
dendritic cell	4 studies	27% ± 5%	Explore
Mueller cell	4 studies	39% ± 11%	Explore
amacrine cell	4 studies	37% ± 10%	Explore
retina horizontal cell	4 studies	34% ± 10%	Explore
retinal cone cell	4 studies	43% ± 10%	Explore
retinal rod cell	4 studies	60% ± 9%	Explore
respiratory goblet cell	4 studies	51% ± 21%	Explore
hepatic stellate cell	3 studies	73% ± 16%	Explore
GABAergic interneuron	3 studies	64% ± 0%	Explore
progenitor cell	3 studies	47% ± 3%	Explore
endocardial cell	3 studies	42% ± 19%	Explore
vein endothelial cell	3 studies	39% ± 12%	Explore
GABAergic amacrine cell	3 studies	39% ± 15%	Explore
glycinergic amacrine cell	3 studies	31% ± 9%	Explore
myeloid cell	3 studies	31% ± 5%	Explore
endothelial cell of vascular tree	3 studies	41% ± 4%	Explore
retinal pigment epithelial cell	3 studies	40% ± 13%	Explore
connective tissue cell	3 studies	48% ± 25%	Explore
ependymal cell	3 studies	53% ± 6%	Explore
T cell	3 studies	34% ± 16%	Explore
alveolar macrophage	3 studies	23% ± 4%	Explore
myofibroblast cell	3 studies	49% ± 23%	Explore
mucus secreting cell	3 studies	41% ± 3%	Explore

II. Expression across tissues

Name	Number of supported studies	Average coverage
brain	16 studies	49% ± 19%	Explore
heart	5 studies	35% ± 11%	Explore
eye	5 studies	52% ± 8%	Explore
lung	5 studies	41% ± 12%	Explore
liver	3 studies	57% ± 15%	Explore
intestine	3 studies	17% ± 0%	Explore
adipose	3 studies	53% ± 19%	Explore
kidney	3 studies	39% ± 6%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
breast	100%	2727.66	459 / 459	100%	26.33	1118 / 1118
intestine	100%	2760.61	966 / 966	100%	25.49	527 / 527
lung	100%	4774.33	578 / 578	100%	37.40	1153 / 1155
esophagus	100%	2370.42	1442 / 1445	100%	47.41	183 / 183
uterus	100%	2211.25	170 / 170	100%	38.74	458 / 459
stomach	100%	2060.33	358 / 359	100%	28.69	286 / 286
liver	100%	4117.74	225 / 226	100%	41.35	406 / 406
ovary	100%	2118.23	180 / 180	100%	32.69	428 / 430
skin	100%	4782.25	1805 / 1809	100%	21.68	470 / 472
bladder	100%	2754.62	21 / 21	98%	28.61	495 / 504
thymus	100%	2923.53	651 / 653	98%	18.68	595 / 605
prostate	100%	2323.71	244 / 245	98%	13.73	491 / 502
pancreas	97%	1341.52	318 / 328	100%	30.50	178 / 178
kidney	99%	1862.98	88 / 89	97%	18.95	875 / 901
adrenal gland	100%	2364.89	258 / 258	84%	10.38	194 / 230
brain	56%	517.02	1481 / 2642	98%	11.63	694 / 705
adipose	100%	3106.21	1204 / 1204	0%	0	0 / 0
spleen	100%	2007.27	241 / 241	0%	0	0 / 0
tonsil	0%	0	0 / 0	100%	39.73	45 / 45
ureter	0%	0	0 / 0	100%	22.27	1 / 1
blood vessel	100%	8824.88	1334 / 1335	0%	0	0 / 0
eye	0%	0	0 / 0	99%	19.01	79 / 80
heart	94%	1726.15	806 / 861	0%	0	0 / 0
lymph node	0%	0	0 / 0	90%	10.57	26 / 29
peripheral blood	72%	1043.33	666 / 929	0%	0	0 / 0
muscle	20%	158.87	159 / 803	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

III. Associated gene sets

GO_0015014	Biological process	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO_0033627	Biological process	cell adhesion mediated by integrin
GO_0001974	Biological process	blood vessel remodeling
GO_0002524	Biological process	hypersensitivity
GO_0060506	Biological process	smoothened signaling pathway involved in lung development
GO_0060441	Biological process	epithelial tube branching involved in lung morphogenesis
GO_0035264	Biological process	multicellular organism growth
GO_0000271	Biological process	polysaccharide biosynthetic process
GO_0036336	Biological process	dendritic cell migration
GO_0030509	Biological process	BMP signaling pathway
GO_0042596	Biological process	fear response
GO_0060218	Biological process	hematopoietic stem cell differentiation
GO_0030163	Biological process	protein catabolic process
GO_0019882	Biological process	antigen processing and presentation
GO_0014033	Biological process	neural crest cell differentiation
GO_0048733	Biological process	sebaceous gland development
GO_0071503	Biological process	response to heparin
GO_0035176	Biological process	social behavior
GO_0043931	Biological process	ossification involved in bone maturation
GO_0003416	Biological process	endochondral bone growth
GO_0006486	Biological process	protein glycosylation
GO_0042044	Biological process	fluid transport
GO_1901706	Biological process	mesenchymal cell differentiation involved in bone development
GO_1904888	Biological process	cranial skeletal system development
GO_1990823	Biological process	response to leukemia inhibitory factor
GO_0003415	Biological process	chondrocyte hypertrophy
GO_0061744	Biological process	motor behavior
GO_0008217	Biological process	regulation of blood pressure
GO_0055078	Biological process	sodium ion homeostasis
GO_0035988	Biological process	chondrocyte proliferation
GO_0051923	Biological process	sulfation
GO_0030204	Biological process	chondroitin sulfate metabolic process
GO_0001958	Biological process	endochondral ossification
GO_0007369	Biological process	gastrulation
GO_0021772	Biological process	olfactory bulb development
GO_0042060	Biological process	wound healing
GO_0071711	Biological process	basement membrane organization
GO_0045165	Biological process	cell fate commitment
GO_0006024	Biological process	glycosaminoglycan biosynthetic process
GO_0045453	Biological process	bone resorption
GO_0050901	Biological process	leukocyte tethering or rolling
GO_0010467	Biological process	gene expression
GO_0070593	Biological process	dendrite self-avoidance
GO_0008543	Biological process	fibroblast growth factor receptor signaling pathway
GO_0061974	Biological process	perichondral bone morphogenesis
GO_0031069	Biological process	hair follicle morphogenesis
GO_0015012	Biological process	heparan sulfate proteoglycan biosynthetic process
GO_0050891	Biological process	multicellular organismal-level water homeostasis
GO_0010803	Biological process	regulation of tumor necrosis factor-mediated signaling pathway
GO_0003128	Biological process	heart field specification
GO_0007033	Biological process	vacuole organization
GO_0021554	Biological process	optic nerve development
GO_0097021	Biological process	lymphocyte migration into lymphoid organs
GO_0007492	Biological process	endoderm development
GO_0009642	Biological process	response to light intensity
GO_0062094	Biological process	stomach development
GO_0030199	Biological process	collagen fibril organization
GO_0042311	Biological process	vasodilation
GO_0060792	Biological process	sweat gland development
GO_0007498	Biological process	mesoderm development
GO_0072112	Biological process	podocyte differentiation
GO_0060560	Biological process	developmental growth involved in morphogenesis
GO_0036022	Biological process	limb joint morphogenesis
GO_0030210	Biological process	heparin biosynthetic process
GO_0017145	Biological process	stem cell division
GO_0072498	Biological process	embryonic skeletal joint development
GO_0036339	Biological process	lymphocyte adhesion to endothelial cell of high endothelial venule
GO_0032836	Biological process	glomerular basement membrane development
GO_0061484	Biological process	hematopoietic stem cell homeostasis
GO_0060070	Biological process	canonical Wnt signaling pathway
GO_0065003	Biological process	protein-containing complex assembly
GO_0071625	Biological process	vocalization behavior
GO_0098586	Biological process	cellular response to virus
GO_0060047	Biological process	heart contraction
GO_0002067	Biological process	glandular epithelial cell differentiation
GO_0097241	Biological process	hematopoietic stem cell migration to bone marrow
GO_0120193	Biological process	tight junction organization
GO_0001503	Biological process	ossification
GO_0060351	Biological process	cartilage development involved in endochondral bone morphogenesis
GO_0007411	Biological process	axon guidance
GO_0035249	Biological process	synaptic transmission, glutamatergic
GO_0005789	Cellular component	endoplasmic reticulum membrane
GO_1902494	Cellular component	catalytic complex
GO_0005794	Cellular component	Golgi apparatus
GO_0000139	Cellular component	Golgi membrane
GO_0005783	Cellular component	endoplasmic reticulum
GO_0045202	Cellular component	synapse
GO_0050508	Molecular function	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
GO_0046982	Molecular function	protein heterodimerization activity
GO_0050509	Molecular function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
GO_0046872	Molecular function	metal ion binding
GO_0015020	Molecular function	glucuronosyltransferase activity
GO_0005515	Molecular function	protein binding
GO_0042803	Molecular function	protein homodimerization activity
GO_0042328	Molecular function	heparan sulfate N-acetylglucosaminyltransferase activity
GO_0008375	Molecular function	acetylglucosaminyltransferase activity

IV. Literature review

[source]

Gene name	EXT1
Protein name	Exostosin-1 (EC 2.4.1.225) (Exostosin glycosyltransferase 1) (Heparan sulfate co-polymerase subunit EXT1) (Multiple exostoses protein 1) (N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase) Exostosin glycosyltransferase 1 (EC 2.4.1.224) Multiple exostoses 1 Exostosin glycosyltransferase 1 Exostosin (EC 2.4.1.224)
Synonyms
Description	FUNCTION: Glycosyltransferase forming with EXT2 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone . Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity within the complex while EXT2 carries the glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity . Heparan sulfate proteoglycans are ubiquitous components of the extracellular matrix and play an important role in tissue homeostasis and signaling . .
Accessions	ENST00000437196.1 F8WF54 S5Y321 T2FFJ4 ENST00000436216.2 Q16394 H7C1H6 V5QSK8 ENST00000378204.7 D7RTA7

EXT1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review