DMAP1

Summary

DMAP1 (DNA methyltransferase 1 associated protein 1, HGNC:18291) is a protein-coding gene on chromosome 1p34.1, encoding DNA methyltransferase 1-associated protein 1 (Q9NPF5). Involved in transcription repression and activation.

This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described.

Source: NCBI Gene 55929 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 111 total — 2 likely-pathogenic
• GTEx eGene: eQTL in 30 tissues, sQTL in 1 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.69 (unconstrained)
• MANE Select transcript: NM_019100

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18291
Approved symbol	DMAP1
Name	DNA methyltransferase 1 associated protein 1
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Aliases	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4
Ensembl gene	ENSG00000178028
Ensembl biotype	protein_coding
OMIM	605077
Entrez	55929

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 16 protein_coding, 7 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

MANE Select: ENST00000372289

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 4, TSL 2: 2, TSL 3: 8, TSL 5: 1

ENST00000372289, ENST00000315913, ENST00000361745, ENST00000372290, ENST00000436069, ENST00000437511, ENST00000440641, ENST00000446292, ENST00000463950, ENST00000471829, ENST00000475794, ENST00000483741, ENST00000487922, ENST00000488433, ENST00000494092, ENST00000891874, ENST00000891875, ENST00000891876, ENST00000924540, ENST00000942392, ENST00000942393, ENST00001049198, ENST00001049199, ENST00001049200, ENST00001124050, ENST00001141806

RefSeq mRNA: 3 — MANE Select: NM_019100 NM_001034023, NM_001034024, NM_019100

CCDS: CCDS509

Canonical transcript exons

ENST00000372289 — 10 exons

Exon	Start	End
ENSE00001235437	44218311	44218469
ENSE00001457447	44213471	44213858
ENSE00003539633	44220017	44220309
ENSE00003583235	44214350	44214441
ENSE00003604123	44219806	44219878
ENSE00003680157	44218588	44218755
ENSE00003683913	44214703	44214898
ENSE00003692513	44219406	44219477
ENSE00003790675	44219056	44219241
ENSE00003849289	44220559	44220673

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 95.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.1410 / max 54.2742, expressed in 1780 samples.

Highest expression (Bgee): adrenal gland cortex, adrenal gland, uterine tube, granulocyte, hemisphere of cerebellum.

Genetic regulation across tissues (GTEx eQTL / sQTL)

DMAP1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 30 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 31 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Muscle Skeletal	eqtl	3.7e-63	+0.46	1:44220650:T:C
Thyroid	eqtl	2.6e-11	+0.20	1:44215047:G:C
Cells Cultured fibroblasts	eqtl	2.6e-11	+0.22	1:44256067:G:A
Pancreas	eqtl	6.5e-11	+0.25	1:44251980:C:T
Heart Atrial Appendage	eqtl	2.9e-09	+0.21	1:44354576:G:A
Esophagus Mucosa	eqtl	2.0e-05	+0.14	1:44241623:G:C
Artery Tibial	eqtl	3.0e-05	-0.15	1:44220650:T:C
Testis	eqtl	8.2e-05	+0.16	1:44076324:C:T
Colon Sigmoid	eqtl	2.2e-04	-0.15	1:44143000:C:T
Artery Aorta	eqtl	2.7e-04	-0.23	1:44299974:C:T
Nerve Tibial	eqtl	3.6e-04	+0.12	1:44130707:CCAA:C
Skin Sun Exposed Lower leg	eqtl	4.6e-04	+0.12	1:44234176:T:G
Pituitary	eqtl	4.6e-04	+0.21	1:44215047:G:C
Brain Hippocampus	eqtl	5.8e-04	-0.43	1:44192008:C:T
Brain Anterior cingulate cortex BA24	eqtl	6.2e-04	+0.30	1:44220650:T:C
Colon Transverse	eqtl	7.8e-04	+0.10	1:44199828:A:G
Brain Frontal Cortex BA9	eqtl	9.2e-04	+0.22	1:44131541:G:A
Lung	eqtl	2.0e-03	+0.10	1:44200673:C:T
Brain Cortex	eqtl	2.1e-03	+0.26	1:44215047:G:C
Adipose Subcutaneous	eqtl	3.2e-03	-0.41	1:44693537:C:T

FANTOM5 promoters

3 alternative TSS:

Promoter ID	TPM avg	Samples expressed
2596	7.1959	1752
2597	2.0402	1284
2598	0.9048	479

Top tissues by expression

showing 100 of 253 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	95.71	gold quality
right adrenal gland	UBERON:0001233	95.64	gold quality
left adrenal gland cortex	UBERON:0035825	95.13	gold quality
left adrenal gland	UBERON:0001234	95.08	gold quality
right uterine tube	UBERON:0001302	94.27	gold quality
adrenal gland	UBERON:0002369	94.18	gold quality
granulocyte	CL:0000094	94.09	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.98	gold quality
cerebellar hemisphere	UBERON:0002245	93.79	gold quality
adrenal cortex	UBERON:0001235	93.68	gold quality
cerebellar cortex	UBERON:0002129	93.64	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.40	gold quality
right frontal lobe	UBERON:0002810	93.38	gold quality
adenohypophysis	UBERON:0002196	93.35	gold quality
right lobe of thyroid gland	UBERON:0001119	93.28	gold quality
mucosa of transverse colon	UBERON:0004991	93.26	gold quality
body of pancreas	UBERON:0001150	93.19	gold quality
adrenal tissue	UBERON:0018303	93.12	gold quality
left ovary	UBERON:0002119	92.97	gold quality
right ovary	UBERON:0002118	92.96	gold quality
anterior cingulate cortex	UBERON:0009835	92.78	gold quality
embryo	UBERON:0000922	92.63	gold quality
ganglionic eminence	UBERON:0004023	92.63	gold quality
left lobe of thyroid gland	UBERON:0001120	92.59	gold quality
endocervix	UBERON:0000458	92.55	gold quality
prefrontal cortex	UBERON:0000451	92.37	gold quality
cerebellum	UBERON:0002037	92.29	gold quality
sural nerve	UBERON:0015488	92.24	gold quality
apex of heart	UBERON:0002098	92.21	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.04	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.00	gold quality
pituitary gland	UBERON:0000007	91.98	gold quality
metanephros cortex	UBERON:0010533	91.88	gold quality
ventricular zone	UBERON:0003053	91.83	gold quality
body of uterus	UBERON:0009853	91.83	gold quality
ectocervix	UBERON:0012249	91.74	gold quality
cortical plate	UBERON:0005343	91.73	gold quality
spleen	UBERON:0002106	91.70	gold quality
body of stomach	UBERON:0001161	91.66	gold quality
caudate nucleus	UBERON:0001873	91.63	gold quality
thyroid gland	UBERON:0002046	91.47	gold quality
tibial nerve	UBERON:0001323	91.45	gold quality
minor salivary gland	UBERON:0001830	91.39	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.38	gold quality
transverse colon	UBERON:0001157	91.36	gold quality
right lobe of liver	UBERON:0001114	91.35	gold quality
left testis	UBERON:0004533	91.35	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.31	gold quality
right testis	UBERON:0004534	91.28	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.96	gold quality
descending thoracic aorta	UBERON:0002345	90.90	gold quality
skin of abdomen	UBERON:0001416	90.88	gold quality
amygdala	UBERON:0001876	90.75	gold quality
left uterine tube	UBERON:0001303	90.73	gold quality
hypothalamus	UBERON:0001898	90.73	gold quality
popliteal artery	UBERON:0002250	90.73	gold quality
tibial artery	UBERON:0007610	90.73	gold quality
skin of leg	UBERON:0001511	90.65	gold quality
gastrocnemius	UBERON:0001388	90.64	gold quality
ascending aorta	UBERON:0001496	90.63	gold quality
thoracic aorta	UBERON:0001515	90.62	gold quality
muscle of leg	UBERON:0001383	90.60	gold quality
putamen	UBERON:0001874	90.59	gold quality
aorta	UBERON:0000947	90.54	gold quality
mucosa of stomach	UBERON:0001199	90.51	gold quality
pancreas	UBERON:0001264	90.50	gold quality
nucleus accumbens	UBERON:0001882	90.49	gold quality
small intestine	UBERON:0002108	90.44	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	90.39	gold quality
left coronary artery	UBERON:0001626	90.38	gold quality
muscle layer of sigmoid colon	UBERON:0035805	90.38	gold quality
monocyte	CL:0000576	90.34	gold quality
lower esophagus mucosa	UBERON:0035834	90.22	gold quality
leukocyte	CL:0000738	90.21	gold quality
neocortex	UBERON:0001950	90.21	gold quality
right atrium auricular region	UBERON:0006631	90.11	gold quality
stromal cell of endometrium	CL:0002255	90.09	gold quality
metanephros	UBERON:0000081	89.97	gold quality
lower esophagus	UBERON:0013473	89.91	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.91	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.81	gold quality
right lung	UBERON:0002167	89.79	gold quality
saliva-secreting gland	UBERON:0001044	89.78	gold quality
upper lobe of left lung	UBERON:0008952	89.76	gold quality
vermiform appendix	UBERON:0001154	89.75	gold quality
frontal cortex	UBERON:0001870	89.73	gold quality
rectum	UBERON:0001052	89.58	gold quality
stomach	UBERON:0000945	89.54	gold quality
right coronary artery	UBERON:0001625	89.48	gold quality
gall bladder	UBERON:0002110	89.45	gold quality
testis	UBERON:0000473	89.34	gold quality
heart left ventricle	UBERON:0002084	89.14	gold quality
coronary artery	UBERON:0001621	89.02	gold quality
ovary	UBERON:0000992	88.99	gold quality
esophagus	UBERON:0001043	88.95	gold quality
spinal cord	UBERON:0002240	88.92	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.90	gold quality
cardiac atrium	UBERON:0002081	88.85	gold quality
islet of Langerhans	UBERON:0000006	88.83	gold quality
forebrain	UBERON:0001890	88.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.52

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 155 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Bone marrow	tissue	67.8	medium
Lymph node	tissue	50.0	medium
Tonsil	tissue	40.6	high
Skeletal muscle	tissue	32.6	medium
Adrenal gland	tissue	29.1	high
Kidney	tissue	28.1	low
Pituitary gland	tissue	24.8
Parathyroid gland	tissue	23.9	medium
Tongue	tissue	23.5
Nucleus accumbens	tissue	23.2
Hippocampus	tissue	23.1	high
Postcentral gyrus	tissue	22.8
Choroid plexus	tissue	20.9
Ovary	tissue	20.6	medium
Salivary gland	tissue	20.1	high
Heart muscle	tissue	20.0	low
Caudate putamen	tissue	20.0
Prostate	tissue	19.7	not detected
Frontal cortex	tissue	19.6
Thymus	tissue	19.5
Thalamus	tissue	19.1
Vagina	tissue	18.7	high
Appendix	tissue	18.4	high
Midbrain	tissue	18.4
Superior colliculi	tissue	18.3
Fallopian tube	tissue	18.2	medium
Retina	tissue	18.1
Cerebellum	tissue	18.1	high
Pons	tissue	17.9
Pancreas	tissue	17.6	high
Skin 1	tissue	17.5	medium
Cerebral cortex	tissue	17.3	high
Somatosensory cortex	tissue	17.3
Locus coeruleus	tissue	17.0
Thyroid gland	tissue	16.8	high
Substantia nigra	tissue	16.7
Spinal cord	tissue	16.7
Medulla oblongata	tissue	16.3
Corpus callosum	tissue	16.2
Hippocampal formation	tissue	16.2
Motor cortex	tissue	16.1
Spleen	tissue	16.0	medium
Lymph node	tissue	15.9	low
Putamen	tissue	15.9
Occipital cortex	tissue	15.5
Basal ganglia	tissue	15.0	high
Ventral forebrain	tissue	15.0
Liver	tissue	14.9	not detected
Spleen	tissue	14.7	low
Entorhinal cortex	tissue	14.6
Olfactory bulb	tissue	14.6
Temporal cortex	tissue	14.6
Prefrontal cortex	tissue	14.5
Hypothalamus	tissue	14.5
Retrosplenial and cingulate cortex	tissue	14.2
Septum	tissue	13.9
Bone marrow	tissue	13.8	medium
Placenta	tissue	13.7	medium
Periaqueductal gray	tissue	13.5
Tonsil	tissue	13.4	medium

Brain sub-regions (HPA Brain Atlas): detected in 380; highest nTPM — Temporo-occipital transitional zone (26.9), Olfactory area (26.8), Fusiform gyrus (25.6), Cerebellar nuclei (25.5), Occipital cortex (white matter) (25.5).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

5 targets:

Target	Regulation
ATM	Unknown
BAX	Unknown
CDH1
CDKN1A	Unknown
DNMT1	Unknown

Upstream regulators (CollecTRI, top): BRD4, JMJD6

Functional genomics

gnomAD constraint: pLI 0.00145, LOEUF 0.691, missense Z 2.61 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000372289 splits into 3 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
1:44,213,754–44,218,355	118 / 189.8	0.62	no
1:44,218,356–44,219,096	142 / 149.5	0.95	no
1:44,219,097–44,220,615	179 / 285.9	0.63	no

Literature-anchored findings (GeneRIF, showing 8)

• RGS6 inhibited the transcriptional repressor activity of DMAP1. (PMID:14734556)
• Knocking down DMAP1 caused hypomethylation of the DNA repair products. (PMID:20864525)
• MMTR is an intrinsic negative cell cycle regulator that modulates the CAK kinase activity via interaction with MAT1. (PMID:20920467)
• positive staining for DNMT1 in clinical cancer specimens was significantly linked to lower rates of response to treatments and shorter survival of patients with pharyngeal cancer. (PMID:21284050)
• These results suggest that DMAP1 is a critical regulator of ATM activity and function (PMID:23318425)
• Targeted knockdown of human DNA methyltransferase 1 expression restores the expression levels of tumor suppressor genes, thus inhibiting the proliferation of cholangiocarcinoma cell line cells. (PMID:24361215)
• A novel tumour suppressor gene, MDGA2, which is frequently inactivated by promoter methylation in Gastric cancer, exerts a tumour suppressive function by cooperating with DMAP1 to activate the p53/p21 signalling cascade. (PMID:26206665)
• Findings reveal a regulatory role of Bub3 in DMAP1-mediated DNA methylation upon mitotic stress. (PMID:30553276)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dmap1	ENSDARG00000042087
mus_musculus	Dmap1	ENSMUSG00000009640
rattus_norvegicus	Dmap1	ENSRNOG00000019407
drosophila_melanogaster	DMAP1	FBGN0034537
caenorhabditis_elegans	ekl-4	WBGENE00013676

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1913483) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 4 distinct phenotype terms.

Mouse phenotype (MP)	Records
embryonic lethality before implantation, complete penetrance	1
preweaning lethality, complete penetrance	1
embryonic lethality prior to organogenesis	1
embryonic lethality prior to tooth bud stage	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Cryptococcus deneoformans JEC21	P0CO96	100.0%	Diamond
Cryptococcus deneoformans B-3501A	P0CO97	100.0%	Diamond
Aspergillus fumigatus Af293	Q4WNY4	68.0%	Diamond
Aspergillus nidulans FGSC A4	Q5B4T5	68.0%	Diamond
Neurospora crassa OR74A	Q870Q1	59.7%	Diamond
Kluyveromyces lactis NRRL Y-1140	Q6CSS3	58.7%	Diamond
Eremothecium gossypii ATCC 10895	Q752S6	56.9%	Diamond
Fusarium graminearum PH-1	Q4HY90	54.2%	Diamond
Candida albicans SC5314	Q5AAJ7	39.6%	Diamond
Mycosarcoma maydis	Q4PG15	37.9%	Diamond
Arabidopsis thaliana	Q8VZL6	37.0%	Diamond
Schizosaccharomyces pombe 972h-	O14308	36.9%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ERI3-IT1	ncRNA	100874278
ERI3	protein-coding	79033
SNORA110	snoRNA	106635545
MIR5584	ncRNA	100847089
RNF220	protein-coding	55182

Protein

Protein identifiers

DNA methyltransferase 1-associated protein 1 — Q9NPF5 (reviewed: Q9NPF5)

All UniProt accessions (6): Q9NPF5, Q5TG36, Q5TG37, Q5TG38, Q5TG39, Q5TG40

UniProt curated annotations — full annotation on UniProt →

Function. Involved in transcription repression and activation. Its interaction with HDAC2 may provide a mechanism for histone deacetylation in heterochromatin following replication of DNA at late firing origins. Can also repress transcription independently of histone deacetylase activity. May specifically potentiate DAXX-mediated repression of glucocorticoid receptor-dependent transcription. Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Participates in the nuclear localization of URI1 and increases its transcriptional corepressor activity.

Subunit / interactions. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. DMAP1 also forms a complex with DNMT1 and HDAC2. Throughout S phase it interacts directly with the N-terminus of DNMT1, which serves to recruit DMAP1 to replication foci. DMAP1 interacts with ING1, a component of the mSin3A transcription repressor complex, although this interaction is not required for recruitment of ING1 to heterochromatin. Interacts directly with the transcriptional corepressor TSG101. Interacts with the pro-apoptotic protein DAXX. Interacts with URI1.

Subcellular location. Nucleus. Cytoplasm.

RefSeq proteins (3): NP_001029195, NP_001029196, NP_061973* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008468	DMAP1	Domain
IPR027109	Swc4/Dmap1	Family
IPR032563	DAMP1_SANT-like	Domain

Pfam: PF05499, PF16282

UniProt features (49 total): helix 19, strand 8, sequence conflict 4, turn 4, compositionally biased region 4, region of interest 3, modified residue 2, cross-link 2, chain 1, domain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

18 structures by resolution:

PDB	Title	Method	Resolution (Å)
4IEJ	Crystal structure of a DNA methyltransferase 1 associated protein 1 (DMAP1) from Homo …	X-RAY DIFFRACTION	1.45
3HM5	SANT domain of human DNA methyltransferase 1 associated protein 1	X-RAY DIFFRACTION	1.8
8QR1	Cryo-EM structure of the human Tip60 complex	ELECTRON MICROSCOPY	2.4
9C57	Reconstituted P400 Subcomplex of the human TIP60 complex	ELECTRON MICROSCOPY	2.75
9CAE	Cryo-EM structure of the reconstituted RuvBL lobe of the human TIP60 complex (composite …	ELECTRON MICROSCOPY	3.07
8X15	Structure of nucleosome-bound SRCAP-C in the apo state	ELECTRON MICROSCOPY	3.2
8X19	Structure of nucleosome-bound SRCAP-C in the ADP-BeFx-bound state	ELECTRON MICROSCOPY	3.2
8X1C	Structure of nucleosome-bound SRCAP-C in the ADP-bound state	ELECTRON MICROSCOPY	3.2
8XVT	The core subcomplex of human NuA4/TIP60 complex	ELECTRON MICROSCOPY	3.2
9C6N	ARP module of the human TIP60 complex	ELECTRON MICROSCOPY	3.29
9CAC	Cryo-EM structure of the RuvBL lobe of the native human TIP60 complex (composite …	ELECTRON MICROSCOPY	3.43
9Y3G	Extended cryo-EM structure of human SRCAP-CFDP1-nucleosome complex in the activated state	ELECTRON MICROSCOPY	4.1
9Y3F	Extended cryo-EM structure of human SRCAP-CFDP1-nucleosome complex in the poised state	ELECTRON MICROSCOPY	4.5
9Y3H	Human SRCAP-CFDP1-nucleosome complex in the unwrapping state of the H2A.Z histone …	ELECTRON MICROSCOPY	4.5
9Y3E	Extended cryo-EM structure of human SRCAP-nucleosome complex in the pre-engaged state	ELECTRON MICROSCOPY	5
9C62	P400 subcomplex of the native human TIP60 complex	ELECTRON MICROSCOPY	5.28
9Y3D	Extended cryo-EM structure of the human SRCAP-nucleosome complex in the fully-engaged …	ELECTRON MICROSCOPY	7.1
8XVG	Structure of human NuA4/TIP60 complex	ELECTRON MICROSCOPY	9.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NPF5-F1	75.46	0.40

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH enhanced

Functional residue map

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

Post-translational modifications (4)

Type	Positions
Phosphothreonine	445
Phosphoserine	448
Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo2)	27, 214

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 3; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

3 pathways:

ID	Pathway	Evidence
R-HSA-3247509	Chromatin modifying enzymes	—
R-HSA-4839726	Chromatin organization	—
R-HSA-3214847	HATs acetylate histones	electronic

MSigDB gene sets: 391 (showing top): GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_RESPONSE_TO_ETHANOL, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, FISCHER_G1_S_CELL_CYCLE, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_GROWTH, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, MODULE_511, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE

GO Biological Process (14): negative regulation of transcription by RNA polymerase II (GO:0000122), DNA repair (GO:0006281), chromatin remodeling (GO:0006338), DNA-templated transcription (GO:0006351), regulation of DNA-templated transcription (GO:0006355), positive regulation of protein import into nucleus (GO:0042307), regulation of apoptotic process (GO:0042981), response to ethanol (GO:0045471), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), regulation of cell cycle (GO:0051726), positive regulation of double-strand break repair via homologous recombination (GO:1905168), regulation of double-strand break repair (GO:2000779), chromatin organization (GO:0006325)

GO Molecular Function (3): transcription corepressor activity (GO:0003714), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), protein binding (GO:0005515)

GO Cellular Component (8): Swr1 complex (GO:0000812), nucleus (GO:0005634), nucleoplasm (GO:0005654), replication fork (GO:0005657), cytoplasm (GO:0005737), cytosol (GO:0005829), NuA4 histone acetyltransferase complex (GO:0035267), chromosome (GO:0005694)

Reactome top-level categories

2 top-level categories:

Category	Pathways
Chromatin modifying enzymes	1
Chromatin organization	1

GO top-level categories

45 GO namespaces:

Category	Terms
cellular anatomical structure	4
DNA-templated transcription	3
negative regulation of DNA-templated transcription	2
regulation of DNA-templated transcription	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
DNA metabolic process	1
DNA damage response	1
chromatin organization	1
gene expression	1
RNA biosynthetic process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
protein import into nucleus	1
regulation of protein import into nucleus	1
positive regulation of nucleocytoplasmic transport	1
positive regulation of intracellular protein transport	1
positive regulation of protein localization to nucleus	1
apoptotic process	1
regulation of programmed cell death	1
response to alcohol	1
negative regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
cell cycle	1
regulation of cellular process	1
double-strand break repair via homologous recombination	1
regulation of double-strand break repair via homologous recombination	1
positive regulation of DNA recombination	1
positive regulation of double-strand break repair	1
regulation of DNA repair	1
double-strand break repair	1
cellular component organization	1
transcription coregulator activity	1
DNA-binding transcription factor binding	1
binding	1
histone deacetylase complex	1
nuclear chromosome	1
INO80-type complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
chromosome	1
intracellular anatomical structure	1
cytoplasm	1
H4/H2A histone acetyltransferase complex	1
intracellular membraneless organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 10 of 25 annotations. The rest are phylogenetic / computational / electronic (IEA).

10 experimentally-supported GO terms:

GO term	NS	Evidence
negative regulation of transcription by RNA polymerase II	BP	direct assay
positive regulation of double-strand break repair via homologous recombination	BP	direct assay
positive regulation of protein import into nucleus	BP	direct assay
regulation of cell cycle	BP	mutant phenotype
NuA4 histone acetyltransferase complex	CC	direct assay
cytoplasm	CC	direct assay
cytosol	CC	direct assay
nucleoplasm	CC	direct assay
nucleus	CC	direct assay
RNA polymerase II-specific DNA-binding transcription factor binding	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 1,658 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DMAP1	DIP2B	Q9P265	925
DMAP1	YEATS4	O95619	863
DMAP1	MEAF6	Q9HAF1	815
DMAP1	EP400	Q96L91	810
DMAP1	BRD8	Q9H0E9	800
DMAP1	RUVBL1	P82276	795
DMAP1	DNMT1	P26358	782
DMAP1	TRRAP	Q9Y4A5	754
DMAP1	SRCAP	Q6ZRS2	740
DMAP1	MORF4L1	Q9UBU8	740
DMAP1	MRGBP	Q9NV56	737
DMAP1	KAT5	Q92993	735
DMAP1	VPS72	Q15906	727
DMAP1	RUVBL2	Q9Y230	713
DMAP1	CFDP1	Q9UEE9	712

IntAct

Human interaction partners of DMAP1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 40 partners by confidence:

Partner	Interaction type	MIscore	Records
MORF4L1	physical association	0.670	3
BFSP2	physical association	0.560	5
C1orf216	physical association	0.560	5
TCHP	physical association	0.560	5
ARFIP2	physical association	0.560	3
CCHCR1	physical association	0.560	3
CDCA7L	physical association	0.560	3
DAXX	physical association	0.560	3
EXOC8	physical association	0.560	3
GAS8	physical association	0.560	3
GINS4	physical association	0.560	3
HSF2BP	physical association	0.560	3
KRT75	physical association	0.560	3
LMNB1	physical association	0.560	3
LRSAM1	physical association	0.560	3
MIS18A	physical association	0.560	3
NAP1L2	physical association	0.560	3
PFDN1	physical association	0.560	3
PIBF1	physical association	0.560	3
SBK3	physical association	0.560	3
SUOX	physical association	0.560	3
TCEANC	physical association	0.560	3
TLK2	physical association	0.560	3
TRIM21	physical association	0.560	3
TSGA10IP	physical association	0.560	3
TXLNA	physical association	0.560	3
TXLNB	physical association	0.560	3
DR1	association	0.530	1
JAZF1	association	0.530	1
AR	physical association	0.470	1

BioGRID (363 interactions; top human partners by supporting records): KAT5 (Affinity Capture-MS; 12 records), RUVBL1 (Co-fractionation; 10 records), RUVBL2 (Co-fractionation; 10 records), MORF4L1 (Affinity Capture-MS; 9 records), BRD8 (Affinity Capture-MS; 8 records), MRGBP (Co-fractionation; 8 records), ING3 (Affinity Capture-MS; 7 records), YEATS4 (Affinity Capture-MS; 7 records), ACTL6A (Affinity Capture-MS; 6 records), EPC1 (Affinity Capture-MS; 6 records), MORF4L2 (Affinity Capture-MS; 6 records), SRCAP (Affinity Capture-MS; 6 records), TRRAP (Affinity Capture-MS; 6 records), VPS72 (Co-fractionation; 6 records), DAXX (Two-hybrid; 5 records)

SIGNOR signaling

3 signaling interactions:

A	Effect	B	Mechanism
MDGA2	“up-regulates quantity by stabilization”	DMAP1	binding
DMAP1	“form complex”	“NuA4 complex”	binding
SRC	“down-regulates activity”	DMAP1	phosphorylation

Protein complexes (CORUM) (12)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

12 complexes by size:

Complex	Subunits	Members
H2A.Z histone-exchange complex p400/TIP60	27	ZNHIT1, ACTL6A, DMAP1, MORF4L1, MRGBP, RUVBL1, VPS72, YEATS4, BRD8, H4C1, ING3, IPO9, PRKDC, SRCAP, ANP32E, EP400, EPC1, EPC2, H2AZ1, H2BC4, H3C1, KAT5, MORF4L2, RUVBL2, TRRAP, XRCC5, XRCC6
★ TIP60-C complex	23	TRRAP, DMAP1, H2AZ2, H2BC18, MORF4L2, RUVBL2, EP400, EPC1, H2AC20, KAT5, TUBB, YEATS4, ACTL6A, BRD8, MEAF6, MORF4L1, MRGBP, RUVBL1, VPS72, ACTBL2, CREB3L2, ING3, MBTD1
NuA4/Tip60-HAT complex	16	MEAF6, VPS72, EPC1, MORF4L2, RUVBL1, ACTL6A, DMAP1, EP400, KAT5, RUVBL2, ING3, MORF4L1, MRGBP, TRRAP, YEATS4, BRD8
NuA4/Tip60-HAT complex	15	EP400, MEAF6, RUVBL2, BRD8, KAT5, MRGBP, YEATS4, DMAP1, EPC1, MORF4L1, ING3, MORF4L2, RUVBL1, TRRAP, ACTL6A
NuA4/Tip60-HAT complex A	15	DMAP1, ING3, MEAF6, RUVBL2, TRRAP, YEATS4, BRD8, EPC1, EPC2, RUVBL1, ACTL6A, MORF4L1, MRGBP, EP400, KAT5
NuA4/Tip60 HAT complex	14	EP400, EPC1, KAT5, YEATS4, ACTL6A, EPC2, ING3, MEAF6, MORF4L1, RUVBL1, RUVBL2, TRRAP, BRD8, DMAP1
NuA4/Tip60 HAT complex	10	BRD8, DMAP1, EP400, EPC1, ING3, KAT5, MORF4L1, RUVBL1, ACTL6A, TRRAP
DMAP1-associated complex	10	DMAP1, EP400, EPC1, RUVBL1, RUVBL2, SRCAP, TRRAP, VPS72, ACTL6A, BRD8
NuA4/Tip60-HAT complex B	8	EPC1, KAT5, MORF4L1, RUVBL1, RUVBL2, TRRAP, ACTL6A, DMAP1
SRCAP-containing complex	7	SRCAP, YEATS4, ACTL6A, ACTR6, DMAP1, RUVBL1, RUVBL2
★ DAXX-DMAP1-DNMT1 complex	3	DAXX, DMAP1, DNMT1
★ DMAP1-DNMT1-RGS6 complex	3	DMAP1, DNMT1, RGS6

Disease & clinical

Genetic variants

Variant evidence for DMAP1: 111 ClinVar records (2 pathogenic / likely pathogenic); 2 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	88
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (2)

Showing all 2 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1679375	NM_019100.5(DMAP1):c.1024del (p.Glu342fs)	Likely pathogenic	criteria provided, single submitter	1
4886923	NM_019100.5(DMAP1):c.676C>T (p.Arg226Trp)	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore DMAP1’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 25 predictions of 1,379):

Position(s)	Effect	Δscore	Sites
1:44213859–44213860	donor_loss	1.0000	3
1:44214701–44214702	acceptor_loss	1.0000	5
1:44214899–44214900	donor_loss	1.0000	3
1:44218573	acceptor_gain	1.0000
1:44218578	acceptor_gain	1.0000
1:44218586–44218587	acceptor_loss	1.0000	6
1:44219047	acceptor_gain	1.0000
1:44219054–44219055	acceptor_loss	1.0000	3
1:44219189	donor_gain	1.0000
1:44219212	donor_gain	1.0000

AlphaMissense

1,650 missense substitutions predicted likely pathogenic (of 3,024 scored), across 372 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M53	9	0.973	1.000
H113	8	0.998	1.000
D6	8	0.993	0.998
F100	8	0.993	1.000
D176	8	0.992	0.998
D107	8	0.991	0.999
F126	8	0.988	1.000
F312	8	0.977	1.000
D438	8	0.966	0.984
D219	8	0.964	0.992
H54	8	0.962	0.995
F129	8	0.956	0.999
D9	8	0.951	0.992
F171	8	0.947	0.999
D267	8	0.947	0.990
N365	8	0.939	0.999
D64	8	0.933	0.989
H222	8	0.929	0.994
D168	8	0.921	0.988
D370	8	0.921	0.990

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

6 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	1.91e-06
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	3.4e-05
Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma (TCGA)	favorable	0.000102
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000343
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	0.000343
Colon Adenocarcinoma (TCGA)	favorable	0.000975

Disease associations

OMIM: gene MIM:605077 | disease phenotypes:

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
neurodevelopmental disorder	Strong	Autosomal recessive

Mondo (2): intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

GWAS associations

2 associations:

Study	Trait	p-value
GCST009391_1489	Metabolite levels	3e-6
GCST009391_1265	Metabolite levels	7e-6

EFO canonical traits (from GWAS)

2 canonical traits:

EFO ID	Trait name
EFO:0010451	aconitate measurement
EFO:0010458	alpha-hydroxybutyric acid measurement

MeSH disease descriptors

2 disease descriptors:

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724908 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
methylmercuric chloride	decreases expression	1
sodium arsenite	increases expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	increases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
corosolic acid	increases expression	1
jinfukang	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	affects expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697415	Binding	Inhibition of DMAP1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — *Nature*

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 404 trials:

NCT	Phase	Status	Title
NCT04586348	Phase 4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	Phase 4	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,
NCT05657860	Phase 4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	Phase 4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	Phase 4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	Phase 4	RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02559102	Phase 3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	Phase 3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	Phase 3	RECRUITING	Reducing Missed Appointments
NCT07377032	Phase 3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02270736	Phase 3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02909959	Phase 2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	Phase 2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	Phase 2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT02304302	Phase 2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	Phase 2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	Phase 2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	Phase 2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT00503191	Phase 1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	Phase 1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	Phase 1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT05273320	Phase 1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	Phase 1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	Phase 1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	Phase 1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	Phase 1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT01783041	Phase 2/3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	Phase 2/3	COMPLETED	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	Early Phase 1	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	COMPLETED	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
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice
NCT03381027	Not specified	COMPLETED	BABY SMART (Study of Massage Therapy, Sleep And neurodevelopMenT)
NCT03388294	Not specified	COMPLETED	Evaluation of a Novel Intervention for Infants At Risk for Neurodevelopmental Disorders
NCT03410810	Not specified	UNKNOWN	Childhood Outcomes of Preterm Brain Abnormalities
NCT03492060	Not specified	RECRUITING	Longitudinal Study of Neurogenetic Disorders
NCT03577756	Not specified	COMPLETED	Neurodevelopmental Assessment of Infants With Cystic Fibrosis
NCT03654248	Not specified	COMPLETED	Let’s Get Organized in Adult Psychiatric/habilitation Care