DPAGT1

Summary

DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1, HGNC:2995) is a protein-coding gene on chromosome 11q23.3, encoding UDP-N-acetylglucosamine–dolichyl-phosphate N-acetylglucosaminephosphotransferase (Q9H3H5). UDP-N-acetylglucosamine–dolichyl-phosphate N-acetylglucosaminephosphotransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. It is a common-essential gene (DepMap: required in 98.3% of cancer cell lines).

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme.

Source: NCBI Gene 1798 — RefSeq curated summary.

At a glance

• Gene–disease (curated): DPAGT1-congenital disorder of glycosylation (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 344 total — 13 pathogenic, 20 likely-pathogenic
• Phenotypes (HPO): 123
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 98.3% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001382

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2995
Approved symbol	DPAGT1
Name	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	GPT, D11S366, DGPT, ALG7, CDG-Ij
Ensembl gene	ENSG00000172269
Ensembl biotype	protein_coding
OMIM	191350
Entrez	1798

Gene structure

Transcript identifiers

Ensembl transcripts: 52 — 23 retained_intron, 16 nonsense_mediated_decay, 13 protein_coding

ENST00000354202, ENST00000392834, ENST00000409993, ENST00000414373, ENST00000442480, ENST00000445653, ENST00000460183, ENST00000461999, ENST00000472016, ENST00000481084, ENST00000524658, ENST00000525456, ENST00000530052, ENST00000533687, ENST00000636404, ENST00000638850, ENST00000639704, ENST00000640102, ENST00000640747, ENST00000682191, ENST00000682192, ENST00000682232, ENST00000682326, ENST00000682404, ENST00000682517, ENST00000682652, ENST00000682665, ENST00000682691, ENST00000682791, ENST00000682811, ENST00000682883, ENST00000682946, ENST00000683143, ENST00000683373, ENST00000683558, ENST00000683567, ENST00000683955, ENST00000684142, ENST00000684252, ENST00000684255, ENST00000684315, ENST00000684345, ENST00000684499, ENST00000684682, ENST00000867497, ENST00000867498, ENST00000938549, ENST00000938550, ENST00000938551, ENST00000945326, ENST00000945327, ENST00000945328

RefSeq mRNA: 1 — MANE Select: NM_001382 NM_001382

CCDS: CCDS8411

Canonical transcript exons

ENST00000354202 — 9 exons

Exon	Start	End
ENSE00001260143	119101018	119101138
ENSE00001581587	119096510	119097063
ENSE00002155852	119101495	119101853
ENSE00003529452	119097855	119098043
ENSE00003552320	119100262	119100408
ENSE00003596267	119097142	119097297
ENSE00003620217	119100630	119100843
ENSE00003639998	119098403	119098487
ENSE00003682245	119097464	119097551

Expression profiles

Bgee: expression breadth ubiquitous, 271 present calls, max score 95.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.9320 / max 222.3272, expressed in 1808 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122693	24.4902	1798
122694	9.0413	1760
122691	0.7388	436
122692	0.2993	119
122690	0.2002	70
122689	0.1622	58

Top tissues by expression

294 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	95.53	gold quality
body of pancreas	UBERON:0001150	95.50	gold quality
right adrenal gland	UBERON:0001233	93.97	gold quality
right adrenal gland cortex	UBERON:0035827	93.80	gold quality
stromal cell of endometrium	CL:0002255	93.73	gold quality
left adrenal gland	UBERON:0001234	93.30	gold quality
left adrenal gland cortex	UBERON:0035825	93.22	gold quality
right lobe of liver	UBERON:0001114	92.71	gold quality
pancreas	UBERON:0001264	92.69	gold quality
right uterine tube	UBERON:0001302	92.68	gold quality
adrenal cortex	UBERON:0001235	92.52	gold quality
lower esophagus mucosa	UBERON:0035834	92.17	gold quality
rectum	UBERON:0001052	92.15	gold quality
body of stomach	UBERON:0001161	92.02	gold quality
adrenal gland	UBERON:0002369	91.64	gold quality
transverse colon	UBERON:0001157	91.52	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.49	gold quality
endocervix	UBERON:0000458	91.44	gold quality
right lobe of thyroid gland	UBERON:0001119	91.40	gold quality
islet of Langerhans	UBERON:0000006	91.33	gold quality
esophagus mucosa	UBERON:0002469	91.31	gold quality
metanephros cortex	UBERON:0010533	91.27	gold quality
minor salivary gland	UBERON:0001830	91.26	gold quality
saliva-secreting gland	UBERON:0001044	91.16	gold quality
granulocyte	CL:0000094	90.96	gold quality
body of uterus	UBERON:0009853	90.85	gold quality
esophagus	UBERON:0001043	90.79	gold quality
adenohypophysis	UBERON:0002196	90.72	gold quality
omental fat pad	UBERON:0010414	90.53	gold quality
peritoneum	UBERON:0002358	90.52	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.59
E-MTAB-4850	no	462.62
E-MTAB-6379	no	461.11

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR3C1, STAT5A, STAT5B

miRNA regulators (miRDB)

33 targeting DPAGT1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929
HSA-MIR-3129-5P	99.75	70.46	914
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-5584-3P	99.23	68.79	1351
HSA-MIR-8077	99.17	66.67	862
HSA-MIR-146A-3P	99.13	68.99	1881
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-1294	98.91	69.26	1030
HSA-MIR-9986	98.91	69.28	1024
HSA-MIR-6818-3P	98.56	68.23	1307
HSA-MIR-376B-5P	98.46	66.40	606
HSA-MIR-376C-5P	98.46	66.64	589
HSA-MIR-4733-5P	97.75	67.44	866
HSA-MIR-4714-5P	97.04	67.76	955
HSA-MIR-34A-3P	96.80	67.70	805

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 98.3% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 20)

• REVIEW: Structure, expression, and regulation (PMID:19519349)
• Studies show for the first time that DPAGT1 is an upstream regulator of E-cadherin N-glycosylation status and adherens junction composition and suggest that dysregulation of DPAGT1 causes disturbances in intercellular adhesion in oral cancer. (PMID:19549906)
• up-regulation of DPAGT1 transcripts by Wnt3a led to altered N-glycosylation of E-cadherin. (PMID:20693288)
• Mutations in DPAGT1 gene is associated with Congenital disorder of glycosylation type Ij. (PMID:22304930)
• Overexpression of DPAGT1 in human oral squamous cell carcinoma specimens is linked to aberrant activation of canonical Wnt signaling. (PMID:22341307)
• We identify DPAGT1 as a gene in which mutations cause a congenital myasthenic syndrome. (PMID:22742743)
• Studies show that cells coordinate DPAGT1 expression and protein N-glycosylation with canonical Wnt signaling and E-cadherin adhesion via positive and negative feedback mechanisms. (PMID:23178939)
• Results indicate that the clinical spectrum of dolichyl-phosphate alpha-N-acetylglucosaminyltransferase (DPAGT1)-congenital disorders of glycosylation (CDG) is much broader than appreciated so far. (PMID:23249953)
• suggest that the primary pathogenic mechanism of DPAGT1-associated CMS is reduced levels of AChRs at the endplate region. This finding demonstrates that impairment of the N-linked glycosylation pathway can lead to the development of CMS (PMID:23278575)
• Patients with DPAGT1 CMS share similar clinical features with patients who have CMS caused by mutations in GFPT1, another recently identified CMS subtype. (PMID:23447650)
• prominent limb-girdle weakness and minimal craniobulbar symptoms who harbour a novel mutation in DPAGT1 (PMID:23591138)
• Data suggest that in oral squamous cell carcinoma (OSCC), dysregulation of canonical Wnt signaling and DPAGT1-dependent N-glycosylation induces CTHRC1, thereby driving OSCC cell migration and tumor spread. (PMID:23703614)
• Data suggest that N-acetylglucosaminyl 1-phosphate transferase is a breast cancer therapeutic target. (PMID:25408354)
• present work improves our knowledge of DPAGT1-CDG and provides bases for developing tailored splicing and folding therapies (PMID:28662078)
• we studied serum asialotransferrin (2009), which revealed a type 1 pattern compatible with type 1 glycosylation. Diagnosis of DPAGT1-CDG was confirmed by massive sequencing, which identified 2 mutations: c.329T>C (p.Phe110Ser, which had not previously been described), and c.902G>A (p.Arg301His) in the DPAGT1 gene. (PMID:28712839)
• Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management. (PMID:31153949)
• LncRNA LINC00467 acted as an oncogene in esophageal squamous cell carcinoma by accelerating cell proliferation and preventing cell apoptosis via the miR-485-5p/DPAGT1 axis. (PMID:32720371)
• NFAT5 promotes oral squamous cell carcinoma progression in a hyperosmotic environment. (PMID:32901097)
• Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature. (PMID:37005892)
• DPAGT1-CDG: Recurrent fetal death. (PMID:37421173)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dpagt1	ENSDARG00000061061
mus_musculus	Dpagt1	ENSMUSG00000032123
rattus_norvegicus	Dpagt1	ENSRNOG00000009799
drosophila_melanogaster	Alg7	FBGN0032477
caenorhabditis_elegans		WBGENE00013362

Protein

Protein identifiers

UDP-N-acetylglucosamine–dolichyl-phosphate N-acetylglucosaminephosphotransferase — Q9H3H5 (reviewed: Q9H3H5)

Alternative names: GlcNAc-1-P transferase, N-acetylglucosamine-1-phosphate transferase

All UniProt accessions (16): A0A1B0GV58, A0A1W2PPC6, A0A1W2PQD1, A0A1W2PQH0, A0A1W2PRR6, A0A804HHX1, A0A804HI18, A0A804HIP7, A0A804HJ11, A0A804HJ22, Q9H3H5, A0A804HKZ3, A0A804HL46, F8W681, F8WE55, H7C2L6

UniProt curated annotations — full annotation on UniProt →

Function. UDP-N-acetylglucosamine–dolichyl-phosphate N-acetylglucosaminephosphotransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. Catalyzes the initial step of dolichol-linked oligosaccharide biosynthesis, transferring GlcNAc-1-P from cytosolic UDP-GlcNAc onto the carrier lipid dolichyl phosphate (P-dolichol), yielding GlcNAc-P-P-dolichol embedded in the cytoplasmic leaflet of the endoplasmic reticulum membrane.

Subunit / interactions. Homodimer.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093] A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The disease is caused by variants affecting the gene represented in this entry. Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS13 is characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by natural nucleoside antibiotic tunicamycin, which acts as a structural analog and competitor of UDP-GlcNAc. Activated by mannosylphosphoryldolichol and phospholipids such as phosphatidylglycerol and phosphatidylcholine.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 4 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H3H5-1	1	yes
Q9H3H5-2	2
Q9H3H5-3	3

RefSeq proteins (1): NP_001373* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000715	Glycosyl_transferase_4	Family
IPR033895	GPT	Family
IPR048439	DPAGT1_ins	Domain

Pfam: PF00953, PF21383

Enzyme classification (BRENDA):

• EC 2.7.8.15 — UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase (BRENDA: 15 organisms, 17 substrates, 34 inhibitors, 14 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
DOLICHYL PHOSPHATE	0.0007–0.18	7
UDP-GLCNAC	0.0001–0.015	6

Catalyzed reactions (Rhea), 1 shown:

• a di-trans,poly-cis-dolichyl phosphate + UDP-N-acetyl-alpha-D-glucosamine = an N-acetyl-alpha-D-glucosaminyl-diphospho-di-trans,poly-cis-dolichol + UMP (RHEA:13289)

UniProt features (95 total): mutagenesis site 18, helix 16, binding site 13, topological domain 11, transmembrane region 10, sequence variant 9, strand 9, turn 3, splice variant 2, sequence conflict 2, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
6JQ3	X-RAY DIFFRACTION	2.5
9ZNN	ELECTRON MICROSCOPY	2.9
6BW6	X-RAY DIFFRACTION	2.95
6BW5	X-RAY DIFFRACTION	3.1
6FWZ	X-RAY DIFFRACTION	3.1
5LEV	X-RAY DIFFRACTION	3.2
5O5E	X-RAY DIFFRACTION	3.4
6FM9	X-RAY DIFFRACTION	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H3H5-F1	94.50	0.88

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (13): 44–46; 46; 56; 119; 125; 178–186; 185; 185; 191; 252; 252; 301–303 …

Glycosylation sites (1): 146

Mutagenesis-validated functional residues (18):

Position	Phenotype
30	mildly reduced udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
69	no significant effect on udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
103	impairs protein stability.
114	no significant effect on udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
115	strongly reduced udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
115	mildly reduced udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
116	strongly reduced udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
122	strongly reduced udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
125	loss of udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
168	strongly reduced udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
182	loss of udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
185	loss of udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
252	reduces binding to inhibitor. nearly abolishes udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotran
264	no significant effect on udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
301	loss of udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
302	loss of udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
303	reduced udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.
385	no significant effect on udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-446193	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4549356	Defective DPAGT1 causes CDG-1j, CMSTA2

MSigDB gene sets: 581 (showing top): GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, KEGG_N_GLYCAN_BIOSYNTHESIS, MODULE_503, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, HSIAO_LIVER_SPECIFIC_GENES, MOOTHA_GLUCONEOGENESIS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS

GO Biological Process (3): protein N-linked glycosylation (GO:0006487), dolichol-linked oligosaccharide biosynthetic process (GO:0006488), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (8): UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975), UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976), glycosyltransferase activity (GO:0016757), identical protein binding (GO:0042802), metal ion binding (GO:0046872), protein binding (GO:0005515), transferase activity (GO:0016740), phosphotransferase activity, for other substituted phosphate groups (GO:0016780)

GO Cellular Component (6): endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), membrane (GO:0016020), intracellular membrane-bounded organelle (GO:0043231), endoplasmic reticulum (GO:0005783), endomembrane system (GO:0012505)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Asparagine N-linked glycosylation	1
Diseases associated with N-glycosylation of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphotransferase activity, for other substituted phosphate groups	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
glycoprotein biosynthetic process	1
protein N-linked glycosylation	1
carbohydrate derivative biosynthetic process	1
transferase activity	1
protein binding	1
cation binding	1
binding	1
catalytic activity	1
transferase activity, transferring phosphorus-containing groups	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intracellular anatomical structure	1
membrane-bounded organelle	1
intracellular organelle	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1892 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DPAGT1	ALG13	Q9NP73	995
DPAGT1	ALG14	Q96F25	994
DPAGT1	PMM2	O15305	891
DPAGT1	ALG1	Q9BT22	799
DPAGT1	ALG6	Q9Y672	793
DPAGT1	GFPT1	Q06210	773
DPAGT1	ALG11	Q2TAA5	760
DPAGT1	ALG8	Q9BVK2	759
DPAGT1	ALG12	Q9BV10	744
DPAGT1	ALG3	Q92685	743
DPAGT1	DPM1	O60762	729
DPAGT1	ALG5	Q9Y673	719
DPAGT1	GMPPB	Q9Y5P6	714
DPAGT1	REPS1	Q96D71	692
DPAGT1	DOLK	Q9UPQ8	689

IntAct

13 interactions, top by confidence:

A	B	Type	Score
HTT	DPAGT1	psi-mi:“MI:0915”(physical association)	0.560
DPAGT1	DPAGT1	psi-mi:“MI:0407”(direct interaction)	0.440
MFSD3	DPAGT1	psi-mi:“MI:0915”(physical association)	0.370
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
NS3	C15orf61	psi-mi:“MI:0914”(association)	0.350
	NBAS	psi-mi:“MI:0914”(association)	0.350
CD1E	ADAM10	psi-mi:“MI:0914”(association)	0.350
DPAGT1	ALOX12B	psi-mi:“MI:0914”(association)	0.350
ARMCX4	PRKACB	psi-mi:“MI:0914”(association)	0.350
SMPD2	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): DPAGT1 (Affinity Capture-MS), DPAGT1 (Affinity Capture-MS), ST3GAL2 (Affinity Capture-MS), STX4 (Affinity Capture-MS), RAB21 (Affinity Capture-MS), SCCPDH (Affinity Capture-MS), ALOX12B (Affinity Capture-MS), DPAGT1 (Synthetic Lethality), DPAGT1 (Affinity Capture-RNA), ST3GAL2 (Affinity Capture-MS), DPAGT1 (Affinity Capture-MS), ADPGK (Affinity Capture-MS), OLFML3 (Affinity Capture-MS), ALOX12B (Affinity Capture-MS), DPAGT1 (Affinity Capture-MS)

ESM2 similar proteins: A0JNC1, B0BMY1, B7FA90, D2HKB0, D3ZG27, E7FB98, O35052, P23338, P24140, P42867, P49281, P49282, P98191, Q12887, Q17QZ3, Q1LZA0, Q1LZE6, Q28H54, Q28HR4, Q38833, Q5EA65, Q5F3N0, Q5R460, Q5RA57, Q5W6H5, Q5ZHQ5, Q5ZKD1, Q5ZKS8, Q6AXM5, Q6ZP29, Q7ZYQ3, Q8BGS7, Q8C4N4, Q8CFY5, Q8NA29, Q8R070, Q92521, Q92903, Q99P55, Q9BX95

Diamond homologs: P07286, P0CD61, P23338, P24140, P42864, P42867, P42881, Q5EA65, Q5L520, Q821S0, Q9H3H5, A1AVY0, A4XI01, A6LTS6, B5YFT8, B8FT59, B8IZT8, Q24TE3, Q2RK82, Q6AJ51, Q8ER51, A5VJ31, B2G6K3, Q8R9G3, B1I4C7, O34753, A5D148

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

344 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	13
Likely pathogenic	20
Uncertain significance	149
Likely benign	112
Benign	10

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1451203	NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs)	Pathogenic
2927002	NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)	Pathogenic
3233256	NM_001382.4(DPAGT1):c.1133A>T (p.Asn378Ile)	Pathogenic
36920	NM_001382.4(DPAGT1):c.699dup (p.Thr234fs)	Pathogenic
36921	NM_001382.4(DPAGT1):c.358C>A (p.Leu120Met)	Pathogenic
36922	NM_001382.4(DPAGT1):c.791T>G (p.Val264Gly)	Pathogenic
3752613	NM_001382.4(DPAGT1):c.980_981del (p.Ser327fs)	Pathogenic
39774	NM_001382.4(DPAGT1):c.161+5G>A	Pathogenic
4785074	NM_001382.4(DPAGT1):c.172C>T (p.Gln58Ter)	Pathogenic
4786678	NM_001382.4(DPAGT1):c.737C>A (p.Ser246Ter)	Pathogenic
565496	NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)	Pathogenic
640003	NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)	Pathogenic
65471	NM_001382.4(DPAGT1):c.503T>C (p.Leu168Pro)	Pathogenic
1299537	NM_001382.4(DPAGT1):c.1097T>C (p.Leu366Ser)	Likely pathogenic
1333389	NM_001382.4(DPAGT1):c.457A>T (p.Lys153Ter)	Likely pathogenic
1480366	NM_001382.4(DPAGT1):c.644-1G>T	Likely pathogenic
1685304	NM_001382.4(DPAGT1):c.643+1G>A	Likely pathogenic
2445686	NC_000011.9:g.(118971849_118972204)(118972786?)del	Likely pathogenic
2499560	NM_001382.4(DPAGT1):c.742G>A (p.Val248Met)	Likely pathogenic
2954181	NM_001382.4(DPAGT1):c.1005+1G>A	Likely pathogenic
3382969	NM_001382.4(DPAGT1):c.728+1del	Likely pathogenic
36918	NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)	Likely pathogenic
429774	NM_001382.4(DPAGT1):c.1123C>T (p.His375Tyr)	Likely pathogenic
4786262	NM_001382.4(DPAGT1):c.282+1G>A	Likely pathogenic
4845787	NM_001382.4(DPAGT1):c.698dup (p.Thr234fs)	Likely pathogenic
65469	NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly)	Likely pathogenic
802807	NM_001382.4(DPAGT1):c.574G>C (p.Gly192Arg)	Likely pathogenic
807593	NM_001382.4(DPAGT1):c.698T>C (p.Phe233Ser)	Likely pathogenic
996651	NM_001382.4(DPAGT1):c.1197T>A (p.Tyr399Ter)	Likely pathogenic
996692	NM_001382.4(DPAGT1):c.419A>G (p.Tyr140Cys)	Likely pathogenic

SpliceAI

3383 predictions. Top by Δscore:

Variant	Effect	Δscore
11:119097294:CCAC:C	acceptor_gain	1.0000
11:119097295:CACC:C	acceptor_gain	1.0000
11:119097297:CCTGG:C	acceptor_loss	1.0000
11:119097298:C:CC	acceptor_gain	1.0000
11:119097299:T:A	acceptor_loss	1.0000
11:119097309:A:T	acceptor_gain	1.0000
11:119098399:TTA:T	donor_loss	1.0000
11:119098400:TA:T	donor_loss	1.0000
11:119098401:A:AC	donor_gain	1.0000
11:119098401:A:C	donor_loss	1.0000
11:119098402:C:CC	donor_gain	1.0000
11:119098486:ACCTT:A	acceptor_loss	1.0000
11:119098487:CCTT:C	acceptor_gain	1.0000
11:119098489:T:A	acceptor_loss	1.0000
11:119098490:T:C	acceptor_gain	1.0000
11:119098490:T:TC	acceptor_gain	1.0000
11:119098497:C:CT	acceptor_gain	1.0000
11:119098498:A:T	acceptor_gain	1.0000
11:119100257:CCTA:C	donor_loss	1.0000
11:119100259:TACCT:T	donor_loss	1.0000
11:119100260:ACCT:A	donor_loss	1.0000
11:119108091:ACGGG:A	donor_gain	1.0000
11:119108092:CGGG:C	donor_gain	1.0000
11:119108093:GGG:G	donor_gain	1.0000
11:119108093:GGGG:G	donor_gain	1.0000
11:119108094:GG:G	donor_gain	1.0000
11:119108094:GGG:G	donor_gain	1.0000
11:119108095:GG:G	donor_gain	1.0000
11:119108096:G:GA	donor_loss	1.0000
11:119108096:G:GG	donor_gain	1.0000

AlphaMissense

2669 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:119100350:A:C	N185K	1.000
11:119100350:A:T	N185K	1.000
11:119097917:G:C	N285K	0.999
11:119097917:G:T	N285K	0.999
11:119098020:C:A	G251V	0.999
11:119100731:G:T	A132D	0.999
11:119100751:C:A	K125N	0.999
11:119100751:C:G	K125N	0.999
11:119100760:C:A	W122C	0.999
11:119100760:C:G	W122C	0.999
11:119100762:A:G	W122R	0.999
11:119100762:A:T	W122R	0.999
11:119100779:T:A	D116V	0.999
11:119100779:T:C	D116G	0.999
11:119100779:T:G	D116A	0.999
11:119100780:C:G	D116H	0.999
11:119100781:A:C	D115E	0.999
11:119100781:A:T	D115E	0.999
11:119100782:T:A	D115V	0.999
11:119100782:T:G	D115A	0.999
11:119100783:C:G	D115H	0.999
11:119100791:C:T	G112D	0.999
11:119100792:C:G	G112R	0.999
11:119097976:C:G	G266R	0.998
11:119097984:G:T	A263D	0.998
11:119097996:C:T	G259D	0.998
11:119097997:C:G	G259R	0.998
11:119098007:A:C	C255W	0.998
11:119098017:T:A	D252V	0.998
11:119098017:T:C	D252G	0.998

dbSNP variants (sampled 300 via entrez): RS1000213032 (11:119102476 T>C,G), RS1000265564 (11:119102674 T>C), RS1000700484 (11:119095205 G>A,T), RS1000809642 (11:119095563 T>C), RS1001422022 (11:119100150 C>T), RS1001541110 (11:119095607 C>T), RS1001596868 (11:119095883 C>T), RS1001996468 (11:119094079 CG>C), RS1002225361 (11:119103052 C>T), RS1002443737 (11:119098882 T>C), RS1003061278 (11:119101911 A>G), RS1003269168 (11:119097530 T>G), RS1004257036 (11:119102697 G>A), RS1004776855 (11:119102113 A>C), RS1004877876 (11:119095460 A>C,G)

Disease associations

OMIM: gene MIM:191350 | disease phenotypes: MIM:608093, MIM:614750, MIM:160565, MIM:232220, MIM:232240

GenCC curated gene-disease

Disease	Classification	Inheritance
DPAGT1-congenital disorder of glycosylation	Definitive	Autosomal recessive
congenital myasthenic syndrome 13	Definitive	Autosomal recessive
congenital myasthenic syndromes with glycosylation defect	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
DPAGT1-congenital disorder of glycosylation	Definitive	AR

Mondo (7): DPAGT1-congenital disorder of glycosylation (MONDO:0011964), congenital myasthenic syndrome 13 (MONDO:0013883), congenital disorder of glycosylation (MONDO:0015286), tubular aggregate myopathy (MONDO:0008051), neurodevelopmental disorder (MONDO:0700092), glycogen storage disease Ib (MONDO:0009288), (MONDO:0018144)

Orphanet (7): Congenital myasthenic syndrome with glycosylation defect (Orphanet:353327), Congenital myasthenic syndrome (Orphanet:590), DPAGT1-CDG (Orphanet:86309), Congenital disorder of glycosylation (Orphanet:137), Tubular aggregate myopathy (Orphanet:2593), Glycogen storage disease due to glucose-6-phosphatase deficiency (Orphanet:364), Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (Orphanet:79259)

HPO phenotypes

123 total (30 of 123 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000510	Rod-cone dystrophy
HP:0000518	Cataract
HP:0000519	Developmental cataract
HP:0000577	Exotropia
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000717	Autism
HP:0000718	Aggressive behavior
HP:0000750	Delayed speech and language development
HP:0000939	Osteoporosis
HP:0000952	Jaundice
HP:0000954	Single transverse palmar crease
HP:0000998	Hypertrichosis
HP:0001072	Thickened skin
HP:0001166	Arachnodactyly
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001263	Global developmental delay

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST008059_151	Estimated glomerular filtration rate	1.000000e-11
GCST90002389_371	Lymphocyte percentage of white cells	1.000000e-14
GCST90002396_509	Mean reticulocyte volume	2.000000e-80
GCST90002397_405	Mean spheric corpuscular volume	2.000000e-15

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0010701	mean reticulocyte volume

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D018981	Congenital Disorders of Glycosylation	C16.320.565.202.125; C18.452.648.202.125
D065886	Neurodevelopmental Disorders	F03.625
C535748	Congenital disorder of glycosylation type 1J (supp.)
C562594	Glycogen Storage Disease IB (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4739704 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

4 potent at pChembl≥5 of 6 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.00	IC50	10	nM	CHEMBL4776441
6.70	IC50	200	nM	CHEMBL4753142
6.22	IC50	600	nM	CHEMBL4752744
5.35	IC50	4500	nM	CHEMBL4797442

PubChem BioAssay actives

4 with measured affinity, of 17 total; 4 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-[[(2S,3S)-1-amino-3-[(2S,3R,4S,5R)-5-(aminomethyl)-3,4-dihydroxyoxolan-2-yl]oxy-3-[(2S,3S,4R,5R)-5-(2,4-dioxopyrimidin-1-yl)-3,4-dihydroxyoxolan-2-yl]-1-oxopropan-2-yl]amino]-N-[[4-[4-[4-(trifluoromethoxy)phenoxy]piperidin-1-yl]phenyl]methyl]butanamide	1696848: Inhibition of human DPAGT1 expressed in HEK293 (Expi293) cells incubated for 2 hrs using UDP-GlcN-Cg-FITC and alpha-dihydroundecap-renyl phosphate by reversed-phase HPLC analysis	ic50	0.0100	uM
(2S,3S,4S)-2-[(1R)-2-amino-1-[(2S,3S,4R,5R)-5-(2,4-dioxopyrimidin-1-yl)-4-hydroxy-3-methoxyoxolan-2-yl]-2-oxoethoxy]-3,4-dihydroxy-N-[[4-[4-[4-(trifluoromethoxy)phenoxy]piperidin-1-yl]phenyl]methyl]-3,4-dihydro-2H-pyran-6-carboxamide	1696848: Inhibition of human DPAGT1 expressed in HEK293 (Expi293) cells incubated for 2 hrs using UDP-GlcN-Cg-FITC and alpha-dihydroundecap-renyl phosphate by reversed-phase HPLC analysis	ic50	0.2000	uM
(2S,3S,4S)-2-[(1R)-2-amino-1-[(2S,3R,4R,5R)-5-(2,4-dioxopyrimidin-1-yl)-3-hydroxy-4-methoxyoxolan-2-yl]-2-oxoethoxy]-3,4-dihydroxy-N-[[4-[4-[4-(trifluoromethoxy)phenoxy]piperidin-1-yl]phenyl]methyl]-3,4-dihydro-2H-pyran-6-carboxamide	1696848: Inhibition of human DPAGT1 expressed in HEK293 (Expi293) cells incubated for 2 hrs using UDP-GlcN-Cg-FITC and alpha-dihydroundecap-renyl phosphate by reversed-phase HPLC analysis	ic50	0.6000	uM
(2S,3S,4S)-2-[(1R)-2-amino-1-[(2S,3R,4R,5R)-5-(2,4-dioxopyrimidin-1-yl)-3,4-dimethoxyoxolan-2-yl]-2-oxoethoxy]-3,4-dihydroxy-N-[(3S)-2-oxoazepan-3-yl]-3,4-dihydro-2H-pyran-6-carboxamide	1696848: Inhibition of human DPAGT1 expressed in HEK293 (Expi293) cells incubated for 2 hrs using UDP-GlcN-Cg-FITC and alpha-dihydroundecap-renyl phosphate by reversed-phase HPLC analysis	ic50	4.5000	uM

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, affects cotreatment, increases abundance, increases expression	4
Valproic Acid	affects expression, decreases methylation, increases expression	4
bisphenol A	decreases expression, affects cotreatment	2
cobaltous chloride	decreases expression	2
Cisplatin	affects expression, increases expression	2
Tunicamycin	increases expression	2
dicrotophos	increases expression	1
beta-lapachone	decreases expression	1
ochratoxin A	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	affects methylation	1
ICG 001	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Decitabine	affects expression	1
Arsenic Trioxide	increases expression	1
Ethanol	decreases expression, increases abundance, affects cotreatment	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Coumestrol	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Fluorouracil	affects response to substance	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4701670	Binding	Inhibition of human DPAGT1 expressed in HEK293 (Expi293) cells incubated for 2 hrs using UDP-GlcN-Cg-FITC and alpha-dihydroundecap-renyl phosphate by reversed-phase HPLC analysis	DPAGT1 Inhibitors of Capuramycin Analogues and Their Antimigratory Activities of Solid Tumors. — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_DB02	GM20941	Transformed cell line	Female

Clinical trials (associated diseases)

217 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT05960617	PHASE2	UNKNOWN	Efficacy and Safety of Empagliflozin in GSD-Ib Patients
NCT07572825	PHASE1	NOT_YET_RECRUITING	Assessing the Safety and Tolerability of NMN in DHDDS-CDG
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT02089789	Not specified	RECRUITING	Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
NCT02503267	Not specified	UNKNOWN	Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects
NCT02955264	Not specified	COMPLETED	Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
NCT03250728	Not specified	COMPLETED	Role of the Endothelium in Stroke-like Episode Among CDG Patients
NCT03560570	Not specified	COMPLETED	Study of Hemostasis in Patients With Congenital Disorder of Glycosylation
NCT04198987	Not specified	COMPLETED	Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation
NCT04199000	Not specified	RECRUITING	Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
NCT04201067	Not specified	COMPLETED	Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit