CHD3

Summary

CHD3 (chromodomain helicase DNA binding protein 3, HGNC:1918) is a protein-coding gene on chromosome 17p13.1, encoding ATP-dependent chromatin remodeler CHD3 (Q12873). ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA.

This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described.

Source: NCBI Gene 1107 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Snijders Blok-Campeau syndrome (Definitive, ClinGen)
• GWAS associations: 5
• Clinical variants (ClinVar): 832 total — 38 pathogenic, 73 likely-pathogenic
• Phenotypes (HPO): 46
• Druggable target: yes
• MANE Select transcript: NM_001005273

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1918
Approved symbol	CHD3
Name	chromodomain helicase DNA binding protein 3
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	Mi-2a, ZFH, Mi2-ALPHA
Ensembl gene	ENSG00000170004
Ensembl biotype	protein_coding
OMIM	602120
Entrez	1107

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 11 protein_coding, 8 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000330494, ENST00000358181, ENST00000380358, ENST00000439235, ENST00000449744, ENST00000452447, ENST00000466233, ENST00000470531, ENST00000473376, ENST00000479080, ENST00000481999, ENST00000570758, ENST00000571249, ENST00000572579, ENST00000572750, ENST00000573936, ENST00000574022, ENST00000671866, ENST00000672274, ENST00000672838, ENST00000682063, ENST00000682344, ENST00000700753

RefSeq mRNA: 3 — MANE Select: NM_001005273 NM_001005271, NM_001005273, NM_005852

CCDS: CCDS32553, CCDS32554, CCDS32555

Canonical transcript exons

ENST00000330494 — 40 exons

Exon	Start	End
ENSE00001143913	7903825	7903991
ENSE00001143988	7904442	7904619
ENSE00001145050	7907894	7908019
ENSE00001646888	7897971	7898102
ENSE00001691766	7897083	7897294
ENSE00001695683	7902937	7903061
ENSE00001702031	7902610	7902727
ENSE00001705394	7899011	7899202
ENSE00001710576	7899343	7899543
ENSE00001710860	7900852	7900993
ENSE00001712256	7903272	7903503
ENSE00001712652	7895339	7895542
ENSE00001727312	7898496	7898595
ENSE00001737716	7899896	7900033
ENSE00001780580	7900558	7900731
ENSE00001785832	7900290	7900411
ENSE00002278191	7888789	7889100
ENSE00002405948	7901244	7901375
ENSE00003464264	7905100	7905165
ENSE00003468569	7908402	7908510
ENSE00003483568	7906553	7906697
ENSE00003498266	7907126	7907247
ENSE00003520632	7907353	7907488
ENSE00003535708	7905621	7905706
ENSE00003539355	7894917	7895150
ENSE00003618678	7907601	7907702
ENSE00003623727	7906869	7907031
ENSE00003638459	7905856	7905989
ENSE00003660244	7908697	7908829
ENSE00003980739	7894115	7894265
ENSE00003980740	7910847	7910973
ENSE00003980741	7894415	7894608
ENSE00003980742	7890571	7890741
ENSE00003980743	7893805	7893935
ENSE00003980744	7911464	7912755
ENSE00003980745	7910428	7910591
ENSE00003980746	7889664	7889776
ENSE00003980747	7909143	7909338
ENSE00003980748	7893286	7893569
ENSE00003980749	7890940	7891064

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 99.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.0772 / max 722.2207, expressed in 1793 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159429	17.9454	1750
159433	2.8553	804
159432	2.1727	833
159438	0.9711	484
159430	0.9191	496
159441	0.4258	210
159434	0.2719	148
159435	0.2054	64
208051	0.1683	75
159437	0.0710	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	99.46	gold quality
ganglionic eminence	UBERON:0004023	99.05	gold quality
right uterine tube	UBERON:0001302	98.69	gold quality
granulocyte	CL:0000094	98.25	gold quality
endocervix	UBERON:0000458	98.20	gold quality
body of uterus	UBERON:0009853	98.08	gold quality
sural nerve	UBERON:0015488	97.95	gold quality
mucosa of stomach	UBERON:0001199	97.67	gold quality
left uterine tube	UBERON:0001303	97.61	gold quality
adenohypophysis	UBERON:0002196	97.58	gold quality
right ovary	UBERON:0002118	97.54	gold quality
left ovary	UBERON:0002119	97.47	gold quality
ectocervix	UBERON:0012249	97.47	gold quality
right lobe of thyroid gland	UBERON:0001119	97.35	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.19	gold quality
left lobe of thyroid gland	UBERON:0001120	97.15	gold quality
stromal cell of endometrium	CL:0002255	96.98	gold quality
metanephros cortex	UBERON:0010533	96.86	gold quality
right frontal lobe	UBERON:0002810	96.74	gold quality
lower esophagus mucosa	UBERON:0035834	96.55	gold quality
ventricular zone	UBERON:0003053	96.48	gold quality
pituitary gland	UBERON:0000007	96.20	gold quality
tibial nerve	UBERON:0001323	96.20	gold quality
minor salivary gland	UBERON:0001830	96.13	gold quality
thyroid gland	UBERON:0002046	96.09	gold quality
lower esophagus	UBERON:0013473	96.03	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.03	gold quality
body of stomach	UBERON:0001161	95.94	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.83	gold quality
right adrenal gland	UBERON:0001233	95.80	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.20
E-GEOD-150728	no	993.39
E-MTAB-7381	no	465.66
E-CURD-114	no	124.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

106 targeting CHD3, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809

Literature-anchored findings (GeneRIF, showing 16)

• effect of progressive C-terminal deletions of CHD3, which indicated that sequences required for repression of PS1 lie between amino acids 1955 and 1877 (PMID:17489097)
• Pericentrin forms complexes with CHD3 and CHD4, but a distinct CHD3-pericentrin complex is required for centrosomal anchoring of pericentrin/gamma-tubulin and for centrosome integrity. (PMID:17626165)
• UV radiation regulates Mi-2 through protein translation and stability (PMID:18922793)
• In this study, the chromatin remodeler chromodomain helicase DNA binding (CHD3) protein is identified as an important component of the initial repression of the herpesvirus genome. (PMID:24425734)
• CHD3 was confirmed to interact with NES1 in NS2, and a disruption to this interaction by mutation in NES1 significantly delayed viral vRNPs export and viral propagation. (PMID:25213355)
• CHD3.1 and ACF1-SNF2H display counteractive activities but similar histone affinities. (PMID:25533843)
• Mutations in CHD3 gene is associated with cutaneous T cell lymphoma and Sezary syndrome. (PMID:26551667)
• CHD3 and CHD4 exhibit distinct nuclear localization patterns in unperturbed cells, revealing a subset of specific target genes. (PMID:28977666)
• The tandem PHD fingers of CHD3 bind histone H3 tails. (PMID:29020631)
• It has been proposed that the functional link between chromatin remodeling by CHD3 and deSUMOylation by SENP1 provides another level of control of gene expression. (PMID:30082317)
• A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function. (PMID:30971721)
• A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. (PMID:32483341)
• Sequence and functional differences in the ATPase domains of CHD3 and SNF2H promise potential for selective regulability and drugability. (PMID:33403747)
• Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome. (PMID:35346573)
• Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review. (PMID:37761804)
• A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings. (PMID:38116750)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	chd3	ENSDARG00000021405
mus_musculus	Chd3	ENSMUSG00000018474
rattus_norvegicus	Chd3	ENSRNOG00000009722

Paralogs (30): HLTF (ENSG00000071794), SMARCA2 (ENSG00000080503), SRCAP (ENSG00000080603), ATRX (ENSG00000085224), RAD54L (ENSG00000085999), BTAF1 (ENSG00000095564), CHD8 (ENSG00000100888), SMARCA1 (ENSG00000102038), CHD4 (ENSG00000111642), CHD5 (ENSG00000116254), TTF2 (ENSG00000116830), HELLS (ENSG00000119969), ZRANB3 (ENSG00000121988), CHD6 (ENSG00000124177), SMARCA4 (ENSG00000127616), INO80 (ENSG00000128908), CHD1L (ENSG00000131778), SMARCAL1 (ENSG00000138375), SHPRH (ENSG00000146414), SMARCA5 (ENSG00000153147), CHD1 (ENSG00000153922), SMARCAD1 (ENSG00000163104), RAD54L2 (ENSG00000164080), CHD7 (ENSG00000171316), CHD2 (ENSG00000173575), CHD9 (ENSG00000177200), EP400 (ENSG00000183495), ERCC6L (ENSG00000186871), RAD54B (ENSG00000197275), ERCC6 (ENSG00000225830)

Protein

Protein identifiers

ATP-dependent chromatin remodeler CHD3 — Q12873 (reviewed: Q12873)

Alternative names: Chromo domain-containing protein 3, Mi-2 autoantigen 240 kDa protein, Mi2-alpha, Zinc finger helicase-like

All UniProt accessions (10): Q12873, A0A5F9ZHM2, A0A5F9ZHX5, A0A8V8TR54, H7C0J3, H7C2H0, H7C3H7, I3L1I4, I3L229, K7EPV1

UniProt curated annotations — full annotation on UniProt →

Function. ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA. Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin. Involved in transcriptional repression as part of the NuRD complex. Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity.

Subunit / interactions. Component of the nucleosome remodeling and deacetylase (NuRD) repressor complex, composed of core proteins MTA1, MTA2, MTA3, RBBP4, RBBP7, HDAC1, HDAC2, MBD2, MBD3, and peripherally associated proteins CDK2AP1, CDK2AP2, GATAD2A, GATAD2B, CHD3, CHD4 and CHD5. The exact stoichiometry of the NuRD complex is unknown, and some subunits such as MBD2 and MBD3, GATAD2A and GATAD2B, and CHD3, CHD4 and CHD5 define mutually exclusive NuRD complexes. Interacts with CBX1. Interacts with CBX3. Interacts with CBX5. Interacts (via its C-terminal) with HABP4. Interacts with HDAC1. Interacts with MTA1. Interacts with PCNT; the interaction regulates centrosome integrity. Interacts with RBBP7. Interacts with SERBP1. Interacts with TRIM28. Interacts with ZBED1/hDREF. (Microbial infection) Interacts with Hantaan hantavirus nucleoprotein. (Microbial infection) Interacts with Seoul hantavirus nucleoprotein.

Subcellular location. Nucleus. PML body. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Tissue specificity. Widely expressed.

Post-translational modifications. Sumoylation at Lys-1971 results in dissociation from chromatin and suppression of transcriptional repression.

Disease relevance. Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. One of the main antigens reacting with anti-MI-2 positive sera of dermatomyositis.

Similarity. Belongs to the SNF2/RAD54 helicase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q12873-1	1	yes
Q12873-2	2
Q12873-3	3

RefSeq proteins (3): NP_001005271, NP_001005273, NP_005843 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000330	SNF2_N	Domain
IPR000953	Chromo/chromo_shadow_dom	Domain
IPR001650	Helicase_C-like	Domain
IPR001965	Znf_PHD	Domain
IPR002464	DNA/RNA_helicase_DEAH_CS	Conserved_site
IPR009462	CHD_II_SANT-like	Domain
IPR009463	DUF1087	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR012957	CHD_C2	Domain
IPR012958	CHD_N	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR014001	Helicase_ATP-bd	Domain
IPR016197	Chromo-like_dom_sf	Homologous_superfamily
IPR019786	Zinc_finger_PHD-type_CS	Conserved_site
IPR019787	Znf_PHD-finger	Domain
IPR023779	Chromodomain_CS	Conserved_site
IPR023780	Chromo_domain	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036910	HMG_box_dom_sf	Homologous_superfamily
IPR038718	SNF2-like_sf	Homologous_superfamily
IPR049730	SNF2/RAD54-like_C	Domain

Pfam: PF00176, PF00271, PF00385, PF00628, PF06461, PF06465, PF08073, PF08074

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (90 total): sequence variant 22, cross-link 16, compositionally biased region 14, modified residue 13, region of interest 9, domain 4, sequence conflict 4, zinc finger region 2, splice variant 2, chain 1, short sequence motif 1, binding site 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q12873-F1	63.21	0.15

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 (1): 761–768

Post-translational modifications (29): 79, 308, 324, 376, 597, 713, 1219, 1367, 1532, 1538, 1601, 1605, 1646, 120, 163, 295, 302, 627, 721, 721 …

Mutagenesis-validated functional residues (1):

Position	Phenotype
1971	abolishes sumoylation by zbed1/hdref and increases binding to chromatin.

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-3214815	HDACs deacetylate histones
R-HSA-427389	ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-4551638	SUMOylation of chromatin organization proteins
R-HSA-6804758	Regulation of TP53 Activity through Acetylation
R-HSA-73762	RNA Polymerase I Transcription Initiation
R-HSA-8943724	Regulation of PTEN gene transcription
R-HSA-9679191	Potential therapeutics for SARS
R-HSA-9843940	Regulation of endogenous retroelements by KRAB-ZFP proteins
R-HSA-9844594	Transcriptional regulation of brown and beige adipocyte differentiation by EBF2
R-HSA-9845323	Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
R-HSA-9937850	NuRD complex assembly
R-HSA-9940951	Interaction of NuRD complexes with transcription factors
R-HSA-9976102	Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)

MSigDB gene sets: 389 (showing top): PID_HDAC_CLASSI_PATHWAY, REACTOME_RNA_POLYMERASE_I_TRANSCRIPTION_INITIATION, MORF_ATRX, MODULE_493, GOCC_MICROTUBULE_ORGANIZING_CENTER, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, ONKEN_UVEAL_MELANOMA_UP, MORF_PPP5C, MORF_FANCG, GOCC_CENTROSOME, TCCCCAC_MIR491, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_DN, MORF_RAP1A, HOEBEKE_LYMPHOID_STEM_CELL_UP, DOUGLAS_BMI1_TARGETS_UP

GO Biological Process (10): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), spindle organization (GO:0007051), centrosome cycle (GO:0007098), regulation of cell fate specification (GO:0042659), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), regulation of stem cell differentiation (GO:2000736), chromatin organization (GO:0006325)

GO Molecular Function (14): transcription cis-regulatory region binding (GO:0000976), DNA binding (GO:0003677), chromatin binding (GO:0003682), RNA binding (GO:0003723), helicase activity (GO:0004386), ATP binding (GO:0005524), zinc ion binding (GO:0008270), ATP hydrolysis activity (GO:0016887), histone binding (GO:0042393), ATP-dependent chromatin remodeler activity (GO:0140658), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (10): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), centrosome (GO:0005813), NuRD complex (GO:0016581), PML body (GO:0016605), centriolar satellite (GO:0034451), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Regulation of endogenous retroelements	2
Chromatin modifying enzymes	1
Positive epigenetic regulation of rRNA expression	1
SUMO E3 ligases SUMOylate target proteins	1
Regulation of TP53 Activity	1
RNA Polymerase I Promoter Clearance	1
PTEN Regulation	1
SARS-CoV Infections	1
Transcriptional regulation of brown and beige adipocyte differentiation	1
CHD3, CHD4, CHD5 subfamily	1
NuRD complex assembly	1
Differentiation of T cells	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
DNA-templated transcription	3
cell cycle process	2
regulation of DNA-templated transcription	2
nucleic acid binding	2
binding	2
ATP-dependent activity	2
nuclear lumen	2
intracellular membraneless organelle	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
chromatin organization	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
microtubule cytoskeleton organization	1
microtubule organizing center organization	1
cell fate specification	1
regulation of cell fate commitment	1
negative regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
regulation of cell differentiation	1
stem cell differentiation	1
cellular component organization	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
transition metal ion binding	1
ribonucleoside triphosphate phosphatase activity	1
protein binding	1
DNA binding	1
chromatin remodeling	1
ATP-dependent activity, acting on DNA	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
cation binding	1

Protein interactions and networks

STRING

3914 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHD3	RBBP4	P31149	995
CHD3	RBBP7	Q16576	995
CHD3	GATAD2A	Q86YP4	995
CHD3	HDAC1	Q13547	994
CHD3	MTA1	Q13330	993
CHD3	HDAC2	Q92769	993
CHD3	CHD4	Q14839	983
CHD3	MTA2	O94776	979
CHD3	MTA3	Q9BTC8	970
CHD3	GATAD2B	Q8WXI9	937
CHD3	TRIM28	Q13263	934
CHD3	CDK2AP1	O14519	827
CHD3	KDM1A	O60341	758
CHD3	SETDB1	Q15047	742
CHD3	NAB2	Q15742	732

IntAct

259 interactions, top by confidence:

A	B	Type	Score
HDAC2	KDM1A	psi-mi:“MI:0914”(association)	0.890
CHD3	HDAC1	psi-mi:“MI:0403”(colocalization)	0.850
RBBP7	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
CHD3	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
HDAC1	TNRC18	psi-mi:“MI:0914”(association)	0.790
GATAD2B	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
CHD3	RBBP7	psi-mi:“MI:0403”(colocalization)	0.750
GATAD2A	CDK2AP1	psi-mi:“MI:0914”(association)	0.730
CDK2AP1	MTA2	psi-mi:“MI:0914”(association)	0.730
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
RBBP7	HAT1	psi-mi:“MI:0914”(association)	0.730
CHD3	SUMO2	psi-mi:“MI:0915”(physical association)	0.670
ZGPAT	DHX15	psi-mi:“MI:0914”(association)	0.670
ZNF219	CDK2AP1	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
GATAD2B	MTA2	psi-mi:“MI:0914”(association)	0.640
ZEB2	MTA2	psi-mi:“MI:0914”(association)	0.580
CHD3	MTA2	psi-mi:“MI:0914”(association)	0.580
CHD3	MTA2	psi-mi:“MI:0403”(colocalization)	0.580
SERBP1	CHD3	psi-mi:“MI:0915”(physical association)	0.580
CHD3	SERBP1	psi-mi:“MI:0915”(physical association)	0.580

BioGRID (1029): CHD3 (Affinity Capture-RNA), CHD3 (Affinity Capture-RNA), CHD3 (Affinity Capture-RNA), CHD3 (Affinity Capture-RNA), CHD3 (Affinity Capture-MS), CHD3 (Affinity Capture-MS), CHD3 (Affinity Capture-MS), CHD3 (Affinity Capture-MS), CHD3 (Affinity Capture-MS), CHD3 (Affinity Capture-MS), CHD3 (Affinity Capture-MS), CHD3 (Affinity Capture-MS), CHD3 (Affinity Capture-MS), CD2BP2 (Co-fractionation), CHD3 (Co-fractionation)

ESM2 similar proteins: A2A8L1, A2BGR3, A3KFM7, A7E320, B2RRD7, D3ZA12, D3ZD32, E1B7X9, E7EZF3, F4J9M5, F4JTF6, F4K128, F8VPZ5, G5EBZ4, G5EDG2, O14139, O75164, O97159, P32657, P34305, P38144, P55201, Q03468, Q12873, Q14839, Q22516, Q27746, Q4P3S3, Q5RD88, Q640I9, Q6P1G2, Q6P5D3, Q6PDQ2, Q6ZRS2, Q7G8Y3, Q7TMI3, Q7TPK1, Q7Z478, Q8BRB7, Q8TD26

Diamond homologs: A0A0P0WGX7, A2A8L1, A2BGR3, A3KFM7, A6QQR4, A7Z019, A9X4T1, B0R0I6, B0XPE7, B3NAN8, B4GS98, B5BT18, B5DE69, B6ZLK2, D3Z9Z9, D3ZA12, D3ZD32, E1B7X9, F1Q8K0, F4I2H2, F4IV45, F4J9M5, F4JY24, F4K128, F4KBP5, F8VPZ5, G5EBZ4, G5EF53, O12944, O13682, O14139, O14646, O14981, O43065, O76460, P0CO16, P0CO17, P28370, P31380, P32333

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CHD3	“form complex”	“MBD2/NuRD complex”	binding
CHD3	“form complex”	“MBD3/NuRD complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 173 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Regulation of TP53 Activity through Acetylation	9	32.6×	3e-10
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	10	30.2×	8e-11
Regulation of PTEN gene transcription	15	21.2×	1e-13
RNA Polymerase I Transcription Initiation	10	17.8×	1e-08
Regulation of endogenous retroelements	6	17.5×	3e-05
NuRD complex assembly	15	16.8×	3e-12
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	14	16.3×	2e-11
Regulation of MECP2 expression and activity	5	14.6×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
regulation of stem cell differentiation	10	47.9×	8e-13
NLS-bearing protein import into nucleus	6	30.1×	4e-06
DNA methylation-dependent constitutive heterochromatin formation	8	27.2×	6e-08
positive regulation of DNA repair	5	11.2×	4e-03
heterochromatin formation	7	11.2×	3e-04
positive regulation of stem cell population maintenance	5	10.8×	4e-03
cytoplasmic translation	8	9.3×	3e-04
chromatin remodeling	20	9.1×	2e-11

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	38
Likely pathogenic	73
Uncertain significance	504
Likely benign	121
Benign	17

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1319380	NM_001005273.3(CHD3):c.5169G>A (p.Trp1723Ter)	Pathogenic
1457659	NM_001005273.3(CHD3):c.766C>T (p.Arg256Ter)	Pathogenic
1685624	NM_001005273.3(CHD3):c.5541dup (p.Lys1848fs)	Pathogenic
1802176	NM_001005273.3(CHD3):c.20_21del (p.Val7fs)	Pathogenic
1803610	NM_001005273.3(CHD3):c.1618dup (p.Arg540fs)	Pathogenic
1804082	NM_001005273.3(CHD3):c.1652_1653del (p.Phe551fs)	Pathogenic
1805076	NM_001005273.3(CHD3):c.4507C>T (p.Gln1503Ter)	Pathogenic
2500710	NM_001005273.3(CHD3):c.2785C>T (p.Leu929Phe)	Pathogenic
2501762	NM_001005273.3(CHD3):c.4073-3_4078del	Pathogenic
2506996	NM_001005273.3(CHD3):c.4100_4101insT (p.Glu1368fs)	Pathogenic
2507028	NM_001005273.3(CHD3):c.1708-1G>T	Pathogenic
2574667	NM_001005273.3(CHD3):c.3431A>T (p.Asn1144Ile)	Pathogenic
3254729	NM_001005273.3(CHD3):c.2749A>G (p.Asn917Asp)	Pathogenic
3376968	NM_001005273.3(CHD3):c.1612_1613delinsA (p.Pro538fs)	Pathogenic
3383503	NM_001005273.3(CHD3):c.720del (p.Ala241fs)	Pathogenic
3390629	NM_001005273.3(CHD3):c.322C>T (p.Arg108Ter)	Pathogenic
3491953	NM_001005273.3(CHD3):c.5662C>T (p.Arg1888Ter)	Pathogenic
3491955	NM_001005273.3(CHD3):c.4494del (p.Lys1500fs)	Pathogenic
3780969	NM_001005273.3(CHD3):c.2653G>A (p.Ala885Thr)	Pathogenic
3832781	NM_001005273.3(CHD3):c.3577C>T (p.Arg1193Ter)	Pathogenic
3832789	NM_001005273.3(CHD3):c.1618del (p.Arg540fs)	Pathogenic
3832794	NM_001005273.3(CHD3):c.4081_4084del (p.Glu1362fs)	Pathogenic
3901359	NM_001005273.3(CHD3):c.3506G>A (p.Arg1169Gln)	Pathogenic
3907777	NM_001005273.3(CHD3):c.154C>T (p.Arg52Ter)	Pathogenic
4002108	NM_001005273.3(CHD3):c.751C>T (p.Gln251Ter)	Pathogenic
4056449	NM_001005273.3(CHD3):c.4073-3delinsAA	Pathogenic
4075815	NM_001005273.3(CHD3):c.3452T>A (p.Val1151Asp)	Pathogenic
422607	NM_001005273.3(CHD3):c.2896C>T (p.Arg966Trp)	Pathogenic
4614504	NM_001005273.3(CHD3):c.307C>T (p.Arg103Ter)	Pathogenic
4614506	NM_001005273.3(CHD3):c.266_269del (p.Glu89fs)	Pathogenic

SpliceAI

5373 predictions. Top by Δscore:

Variant	Effect	Δscore
17:7884954:G:GT	donor_gain	1.0000
17:7889654:T:TA	acceptor_gain	1.0000
17:7889660:A:AG	acceptor_gain	1.0000
17:7889662:A:AG	acceptor_gain	1.0000
17:7889663:G:GG	acceptor_gain	1.0000
17:7889663:GATAA:G	acceptor_gain	1.0000
17:7889772:AGCGT:A	donor_gain	1.0000
17:7889773:GCGT:G	donor_gain	1.0000
17:7889773:GCGTG:G	donor_gain	1.0000
17:7889775:GT:G	donor_gain	1.0000
17:7889776:TGTAA:T	donor_loss	1.0000
17:7889777:G:GA	donor_loss	1.0000
17:7889777:G:GG	donor_gain	1.0000
17:7889778:T:G	donor_loss	1.0000
17:7890568:TA:T	acceptor_loss	1.0000
17:7890569:A:AT	acceptor_loss	1.0000
17:7890570:GGACA:G	acceptor_gain	1.0000
17:7890672:G:GT	donor_gain	1.0000
17:7890935:CGCA:C	acceptor_loss	1.0000
17:7890936:GCA:G	acceptor_loss	1.0000
17:7890937:CAG:C	acceptor_loss	1.0000
17:7890938:A:AG	acceptor_gain	1.0000
17:7890938:AGCA:A	acceptor_loss	1.0000
17:7890939:G:GC	acceptor_loss	1.0000
17:7890939:G:GG	acceptor_gain	1.0000
17:7890939:GCAA:G	acceptor_gain	1.0000
17:7891065:GTGCG:G	donor_gain	1.0000
17:7893786:ACCCC:A	acceptor_gain	1.0000
17:7894248:G:GT	donor_gain	1.0000
17:7894252:G:GT	donor_gain	1.0000

AlphaMissense

13138 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:7890979:T:A	W142R	1.000
17:7890979:T:C	W142R	1.000
17:7890986:T:C	L144P	1.000
17:7891007:T:C	F151S	1.000
17:7891031:T:C	L159P	1.000
17:7891038:C:A	N161K	1.000
17:7891038:C:G	N161K	1.000
17:7891039:T:C	Y162H	1.000
17:7891039:T:G	Y162D	1.000
17:7891040:A:G	Y162C	1.000
17:7891042:A:G	K163E	1.000
17:7891043:A:T	K163I	1.000
17:7891044:A:C	K163N	1.000
17:7891044:A:T	K163N	1.000
17:7891048:T:C	F165L	1.000
17:7891049:T:C	F165S	1.000
17:7891050:C:A	F165L	1.000
17:7891050:C:G	F165L	1.000
17:7891051:A:C	S166R	1.000
17:7891053:C:A	S166R	1.000
17:7891053:C:G	S166R	1.000
17:7891064:G:C	R170T	1.000
17:7891064:G:T	R170M	1.000
17:7893286:G:C	R170S	1.000
17:7893286:G:T	R170S	1.000
17:7893294:T:A	I173N	1.000
17:7893297:C:A	A174D	1.000
17:7893307:T:A	N177K	1.000
17:7893307:T:G	N177K	1.000
17:7893328:G:C	K184N	1.000

dbSNP variants (sampled 300 via entrez): RS1000028601 (17:7889171 G>A,C), RS1000078283 (17:7909959 C>T), RS1000221615 (17:7895476 G>A), RS1000296627 (17:7902282 C>T), RS1000668595 (17:7901090 C>T), RS1000833299 (17:7901517 T>G), RS1001044401 (17:7887716 C>T), RS1001139219 (17:7888002 G>A), RS1001177178 (17:7896761 C>T), RS1001311940 (17:7890153 G>A), RS1001395482 (17:7904329 G>T), RS1001435359 (17:7893991 G>A,T), RS1001619311 (17:7911103 G>C), RS1001628355 (17:7896947 C>T), RS1001903950 (17:7909595 C>A,T)

Disease associations

OMIM: gene MIM:602120 | disease phenotypes: MIM:618205

GenCC curated gene-disease

Disease	Classification	Inheritance
Snijders Blok-Campeau syndrome	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Snijders Blok-Campeau syndrome	Definitive	AD

Mondo (6): Snijders Blok-Campeau syndrome (MONDO:0032600), neurodevelopmental disorder (MONDO:0700092), breast ductal adenocarcinoma (MONDO:0005590), coloboma (MONDO:0001476), autism spectrum disorder (MONDO:0005258), intellectual disability (MONDO:0001071)

Orphanet (4): CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome (Orphanet:599082), OBSOLETE: Ocular coloboma (Orphanet:194), NON RARE IN EUROPE: Autism (Orphanet:106), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

46 total (30 of 46 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000218	High palate
HP:0000256	Macrocephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000369	Low-set ears
HP:0000431	Wide nasal bridge
HP:0000448	Prominent nose
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000540	Hypermetropia
HP:0000679	Taurodontia
HP:0000687	Widely spaced teeth
HP:0000729	Autistic behavior
HP:0000733	Motor stereotypy
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001382	Joint hypermobility
HP:0001537	Umbilical hernia
HP:0001631	Atrial septal defect
HP:0001642	Pulmonic stenosis
HP:0001760	Abnormal foot morphology
HP:0002007	Frontal bossing
HP:0002119	Ventriculomegaly
HP:0002136	Broad-based gait
HP:0002317	Unsteady gait

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002987_12	Stroke	1.000000e-08
GCST002988_1	Ischemic stroke	5.000000e-09
GCST006085_91	Prostate cancer	1.000000e-16
GCST006976_83	Macular thickness	3.000000e-09
GCST010002_119	Refractive error	3.000000e-22

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282
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): CHEMBL6067283 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.87	Kd	1347	nM	CHEMBL5653589
5.65	ED50	2235	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 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-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148067: Binding affinity to human CHD3 incubated for 45 mins by Kinobead based pull down assay	kd	1.3471	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	4
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	3
(+)-JQ1 compound	decreases expression	3
propionaldehyde	decreases expression, increases methylation	2
bisphenol A	increases expression, decreases expression	2
butyraldehyde	increases methylation, decreases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases oxidation	2
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Cisplatin	affects expression, decreases expression	2
Cadmium Chloride	increases expression	2
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
nonanal	increases methylation	1
n-hexanal	increases methylation	1
decabromobiphenyl ether	decreases expression	1
arsenite	decreases reaction, affects binding	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
cupric chloride	decreases expression	1
coumarin	decreases phosphorylation	1
caprylic aldehyde	increases methylation	1
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
pentanal	increases methylation	1
heptanal	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651109	Binding	Binding affinity to human CHD3 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SI93	HAP1 CHD3 (-) 1	Cancer cell line	Male
CVCL_SI94	HAP1 CHD3 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

300 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,
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
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
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD