ACTL6A

Summary

ACTL6A (actin like 6A, HGNC:24124) is a protein-coding gene on chromosome 3q26.33, encoding Actin-like protein 6A (O96019). Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). It is a common-essential gene (DepMap: required in 99.4% of cancer cell lines).

This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described.

Source: NCBI Gene 86 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +3 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 88 total — 2 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 1
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 99.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_004301

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24124
Approved symbol	ACTL6A
Name	actin like 6A
Location	3q26.33
Locus type	gene with protein product
Status	Approved
Aliases	Actl6, BAF53A, Arp4, Baf53a, INO80K, SMARCN1
Ensembl gene	ENSG00000136518
Ensembl biotype	protein_coding
OMIM	604958
Entrez	86

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 12 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000392662, ENST00000429709, ENST00000450518, ENST00000461125, ENST00000467383, ENST00000467615, ENST00000468767, ENST00000479056, ENST00000484312, ENST00000486471, ENST00000487978, ENST00000490364, ENST00000491202, ENST00000494843, ENST00000879835, ENST00000879836, ENST00000879837, ENST00000937853, ENST00000937854, ENST00000937855, ENST00000937856, ENST00000941894

RefSeq mRNA: 3 — MANE Select: NM_004301 NM_004301, NM_177989, NM_178042

CCDS: CCDS3231, CCDS43174

Canonical transcript exons

ENST00000429709 — 14 exons

Exon	Start	End
ENSE00000924279	179581140	179581220
ENSE00000924281	179586546	179586632
ENSE00001854933	179562926	179563117
ENSE00001937847	179587930	179588407
ENSE00002463999	179574370	179574467
ENSE00003462850	179576217	179576311
ENSE00003477314	179576620	179576726
ENSE00003512776	179580640	179580701
ENSE00003537620	179583353	179583448
ENSE00003572820	179580894	179581008
ENSE00003603142	179573369	179573469
ENSE00003618435	179569824	179569900
ENSE00003642645	179576824	179576913
ENSE00003691238	179570067	179570241

Expression profiles

Bgee: expression breadth ubiquitous, 272 present calls, max score 97.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 54.6337 / max 775.5929, expressed in 1821 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
39929	53.3788	1820
39930	1.0090	599
39931	0.2459	104

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	97.12	gold quality
calcaneal tendon	UBERON:0003701	96.14	gold quality
ganglionic eminence	UBERON:0004023	95.95	gold quality
ventricular zone	UBERON:0003053	95.90	gold quality
endometrium epithelium	UBERON:0004811	95.88	gold quality
oocyte	CL:0000023	95.84	gold quality
right testis	UBERON:0004534	95.66	gold quality
left testis	UBERON:0004533	95.50	gold quality
secondary oocyte	CL:0000655	95.47	gold quality
rectum	UBERON:0001052	95.37	gold quality
testis	UBERON:0000473	94.89	gold quality
islet of Langerhans	UBERON:0000006	94.17	gold quality
mucosa of transverse colon	UBERON:0004991	94.05	gold quality
sperm	CL:0000019	93.75	gold quality
embryo	UBERON:0000922	93.69	gold quality
body of pancreas	UBERON:0001150	93.30	gold quality
right ovary	UBERON:0002118	93.30	gold quality
left ovary	UBERON:0002119	93.16	gold quality
monocyte	CL:0000576	93.14	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.13	gold quality
skin of abdomen	UBERON:0001416	93.05	gold quality
body of uterus	UBERON:0009853	93.02	gold quality
esophagus mucosa	UBERON:0002469	92.80	gold quality
endometrium	UBERON:0001295	92.78	gold quality
mononuclear cell	CL:0000842	92.67	gold quality
ectocervix	UBERON:0012249	92.65	gold quality
endocervix	UBERON:0000458	92.60	gold quality
metanephros cortex	UBERON:0010533	92.57	gold quality
adrenal tissue	UBERON:0018303	92.53	gold quality
minor salivary gland	UBERON:0001830	92.52	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6142	no	492.61
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): KAT5, MYC, TP53

miRNA regulators (miRDB)

83 targeting ACTL6A, 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-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.4% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 32)

• data show that BAF53 shuttles between the cytoplasm and nucleus in an energy-dependent manner, and suggest that BAF53 can play a role distinct from its previously recognized function in transcriptional regulation (PMID:14503849)
• study finds Baf53 and Baf170 are highly regulated in HIV-1-infected cells;innate function of Baf53-containing complexes appears to be transcriptionally suppressive (PMID:21699904)
• These results suggest that activated expression of the E6 and E7 genes of integrated HPV is dependent on BAF53-dependent higher-order chromatin structure or nuclear motor activity. (PMID:21821000)
• The beta-actin-Arp4 complex formation might be a crucial feature in some chromatin-modifying enzyme complexes, such as the Brg1 complex. (PMID:22573825)
• Data show that ACTL6a prevents SWI/SNF complex binding to promoters of KLF4 and other differentiation genes and that SWI/SNF catalytic subunits are required for full induction of KLF4 targets. (PMID:23395444)
• These results indicate that failure to downregulate the BAF53a subunit may contribute to the pathogenesis of rhabdomyosarcoma, and suggest that BAF53a may represent a novel therapeutic target for this tumor. (PMID:23728344)
• BAF53 is prerequisite for maintaining the structural integrity of chromosomal subdomains. (PMID:26242195)
• ACTL6A protein expression predicts poor prognosis of hepatocellular carcinoma and metastasis. (PMID:26698646)
• ACTL6A and p63 collaborate as oncogenic drivers in head and neck squamous cell carcinoma (HNSCC). (PMID:28041841)
• Study shows high expression level of ACTL6A in osteosarcoma tissues and associates with poor survival providing evidence that ACTL6A promotes osteosarcoma cell metastasis through epithelial-mesenchymal transition. (PMID:28260090)
• ACTL6A gene mutation analysis should be considered in patients with intellectual disability, learning disabilities, or developmental language disorder. (PMID:28649782)
• hese results suggest that BAF53a may be a novel prognostic factor for glioma patients, and that BAF53 may facilitate glioma progression by promoting proliferation, invasion, and associate with EMT. Therefore, BAF53a could be a potential promising biomarker and a target for the treatment of glioma. (PMID:29039584)
• ACTL6A promotes glioma progression through stabilization of transcriptional regulators YAP and TAZ. (PMID:29725063)
• Results suggested that BAF53A plays an important role in the expression of androgen receptor target genes in prostate cancer (PMID:30278885)
• Our findings indicate that ACTL6A exhibits pro-tumor function and acts as an EMT activator in colon cancer. ACTL6A may serve as a potential therapeutic target for colon cancer. (PMID:30348114)
• ACTL6A interacted with and was co-localized with Sox2 and p53 in acute promyelocytic leukemia cell lines. (PMID:30448346)
• MRI characteristics, such as lesion border, lesion edema degree, enhancement degree of the lesion and deep white matter invasion, might be associated with BAF53a expression in gliomas (PMID:31303610)
• oncogenic roles in human cancers (PMID:31504061)
• ACTL6A regulates follicle-stimulating hormone-driven glycolysis in ovarian cancer cells via PGK1. (PMID:31649264)
• The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype. (PMID:31994175)
• Long non-coding RNA uc.291 controls epithelial differentiation by interfering with the ACTL6A/BAF complex. (PMID:32017402)
• MiR-216a-3p suppresses the proliferation and invasion of cervical cancer through downregulation of ACTL6A-mediated YAP signaling. (PMID:32401366)
• Actin-like 6A enhances the proliferative and invasive capacities of laryngeal squamous cell carcinoma by potentiating the activation of YAP signaling. (PMID:33067739)
• ACTL6A promotes repair of cisplatin-induced DNA damage, a new mechanism of platinum resistance in cancer. (PMID:33408251)
• ACTL6A promotes the growth in non-small cell lung cancer by regulating Hippo/Yap pathway. (PMID:33896314)
• Increased ACTL6A occupancy within mSWI/SNF chromatin remodelers drives human squamous cell carcinoma. (PMID:34687603)
• DNA Damage Triggers the Nuclear Accumulation of RASSF6 Tumor Suppressor Protein via CDK9 and BAF53 To Regulate p53 Target Gene Transcription. (PMID:34898277)
• ACTL6A deficiency induces apoptosis through impairing DNA replication and inhibiting the ATR-Chk1 signaling in glioblastoma cells. (PMID:35182941)
• BAF53A drives colorectal cancer development by regulating DUSP5-mediated ERK phosphorylation. (PMID:36526622)
• Targeting VPS72 inhibits ACTL6A/MYC axis activity in HCC progression. (PMID:36631007)
• Actin-like Protein 6A Expression Correlates with Cancer Stem Cell-like Features and Poor Prognosis in Ovarian Cancer. (PMID:36768349)
• High expression of ACTL6A leads to poor prognosis of oral squamous cell carcinoma patients through promoting malignant progression. (PMID:38523407)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	actl6a	ENSDARG00000070828
mus_musculus	Actl6a	ENSMUSG00000027671
rattus_norvegicus	Actl6a	ENSRNOG00000011553

Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), ACTR3B (ENSG00000133627), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), ACTA1 (ENSG00000143632), ACTL7B (ENSG00000148156), ACTC1 (ENSG00000159251), ACTG2 (ENSG00000163017), ACTBL2 (ENSG00000169067), ACTRT2 (ENSG00000169717), ACTL9 (ENSG00000181786), ACTG1 (ENSG00000184009), ACTRT3 (ENSG00000184378), ACTL7A (ENSG00000187003), ACTL10 (ENSG00000288649)

Protein

Protein identifiers

Actin-like protein 6A — O96019 (reviewed: O96019)

Alternative names: 53 kDa BRG1-associated factor A, Actin-related protein Baf53a, ArpNbeta, BRG1-associated factor 53A, INO80 complex subunit K

All UniProt accessions (3): C9JQT2, O96019, H7C5S0

UniProt curated annotations — full annotation on UniProt →

Function. Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. 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. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.

Subunit / interactions. Component of numerous complexes with chromatin remodeling and histone acetyltransferase activity. 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. The NuA4 complex interacts with MYC and the adenovirus E1A protein. 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. Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific. Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Component of the BAF53 complex, at least composed of ACTL6A/BAF53A, RUVBL1/TIP49, SMARCA2/BRM/BAF190B and TRRAP/PAF400, and which may also include a HAT activity related to, but distinct from, that of KAT5. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of SWI/SNF (GBAF) subcomplex, which includes at least BICRA or BICRAL (mutually exclusive), BRD9, SS18, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, SMARCC1/BAF155, and SMARCD1/BAF60A. May be a component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin. Interacts with SMARCA4/BRG1/BAF190A. Interacts with PHF10/BAF45A. Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the DBINO domain of INO80. Interacts with DPF2.

Subcellular location. Nucleus.

Disease relevance. ACTL6A mutations have been found in patients with intellectual disability of variable severity, developmental delay, dysmorphic features and digit abnormalities. Additional features may include genitourinary and cardiac defects. The disease phenotype resembles Coffin-Siris syndrome and brachymorphism-onychodysplasia-dysphalangism syndrome.

Similarity. Belongs to the actin family.

Isoforms (2)

UniProt ID	Names	Canonical?
O96019-1	1	yes
O96019-2	2, HArpNbeta-s

RefSeq proteins (3): NP_004292, NP_817126, NP_829888 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004000	Actin	Family
IPR004001	Actin_CS	Conserved_site
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF00022

UniProt features (59 total): strand 25, helix 16, turn 5, sequence conflict 4, modified residue 3, sequence variant 2, initiator methionine 1, chain 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

25 structures.

PDB	Method	Resolution (Å)
8QR1	ELECTRON MICROSCOPY	2.4
9UXC	ELECTRON MICROSCOPY	2.74
9C57	ELECTRON MICROSCOPY	2.75
9WBZ	ELECTRON MICROSCOPY	2.9
9UXB	ELECTRON MICROSCOPY	2.92
9CAE	ELECTRON MICROSCOPY	3.07
8X15	ELECTRON MICROSCOPY	3.2
8X19	ELECTRON MICROSCOPY	3.2
8X1C	ELECTRON MICROSCOPY	3.2
8XVT	ELECTRON MICROSCOPY	3.2
9UXA	ELECTRON MICROSCOPY	3.28
9C6N	ELECTRON MICROSCOPY	3.29
7VDV	ELECTRON MICROSCOPY	3.4
9C4B	ELECTRON MICROSCOPY	3.4
9WC1	ELECTRON MICROSCOPY	3.4
9CAC	ELECTRON MICROSCOPY	3.43
9RL4	ELECTRON MICROSCOPY	3.5
6LTJ	ELECTRON MICROSCOPY	3.7
9RN2	ELECTRON MICROSCOPY	4.1
9RMC	ELECTRON MICROSCOPY	4.2
7Y8R	ELECTRON MICROSCOPY	4.4
21VV	ELECTRON MICROSCOPY	4.7
9C62	ELECTRON MICROSCOPY	5.28
9RN1	ELECTRON MICROSCOPY	5.9
8XVG	ELECTRON MICROSCOPY	9.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O96019-F1	92.04	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.

Post-translational modifications (4): 2, 86, 233, 62

Function

Pathways and Gene Ontology

Reactome pathways

29 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-3214858	RMTs methylate histone arginines
R-HSA-5689603	UCH proteinases
R-HSA-5696394	DNA Damage Recognition in GG-NER
R-HSA-8939243	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-9824585	Regulation of MITF-M-dependent genes involved in pigmentation
R-HSA-9845323	Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
R-HSA-9933937	Formation of the canonical BAF (cBAF) complex
R-HSA-9933939	Formation of the polybromo-BAF (pBAF) complex
R-HSA-9933946	Formation of the embryonic stem cell BAF (esBAF) complex
R-HSA-9933947	Formation of the non-canonical BAF (ncBAF) complex
R-HSA-9934037	Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
R-HSA-1266738	Developmental Biology
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-212436	Generic Transcription Pathway
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-392499	Metabolism of proteins
R-HSA-4839726	Chromatin organization
R-HSA-5688426	Deubiquitination
R-HSA-5696398	Nucleotide Excision Repair
R-HSA-5696399	Global Genome Nucleotide Excision Repair (GG-NER)
R-HSA-597592	Post-translational protein modification
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-73894	DNA Repair
R-HSA-74160	Gene expression (Transcription)
R-HSA-8878171	Transcriptional regulation by RUNX1
R-HSA-9730414	MITF-M-regulated melanocyte development
R-HSA-9842860	Regulation of endogenous retroelements
R-HSA-9856651	MITF-M-dependent gene expression

MSigDB gene sets: 376 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GOBP_SPINAL_CORD_DEVELOPMENT, MORF_MTA1, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_DNA_RECOMBINATION, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, TGCACTT_MIR519C_MIR519B_MIR519A, TTTGTAG_MIR520D, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_TELOMERE_ORGANIZATION

GO Biological Process (37): telomere maintenance (GO:0000723), blastocyst formation (GO:0001825), neural retina development (GO:0003407), regulation of DNA replication (GO:0006275), DNA repair (GO:0006281), regulation of DNA repair (GO:0006282), DNA recombination (GO:0006310), chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), signal transduction (GO:0007165), nervous system development (GO:0007399), positive regulation of cell population proliferation (GO:0008284), spinal cord development (GO:0021510), regulation of mitotic metaphase/anaphase transition (GO:0030071), regulation of chromosome organization (GO:0033044), regulation of apoptotic process (GO:0042981), positive regulation of T cell differentiation (GO:0045582), negative regulation of cell differentiation (GO:0045596), positive regulation of cell differentiation (GO:0045597), positive regulation of myoblast differentiation (GO:0045663), positive regulation of DNA repair (GO:0045739), positive regulation of DNA-templated transcription (GO:0045893), regulation of embryonic development (GO:0045995), regulation of cell cycle (GO:0051726), regulation of DNA strand elongation (GO:0060382), regulation of G0 to G1 transition (GO:0070316), positive regulation of stem cell population maintenance (GO:1902459), positive regulation of telomere maintenance in response to DNA damage (GO:1904507), positive regulation of double-strand break repair via homologous recombination (GO:1905168), regulation of G1/S transition of mitotic cell cycle (GO:2000045), regulation of double-strand break repair (GO:2000779), positive regulation of double-strand break repair (GO:2000781), regulation of nucleotide-excision repair (GO:2000819), chromatin organization (GO:0006325), DNA damage response (GO:0006974), system development (GO:0048731)

GO Molecular Function (4): chromatin binding (GO:0003682), transcription coactivator activity (GO:0003713), protein binding (GO:0005515), nucleosomal DNA binding (GO:0031492)

GO Cellular Component (15): kinetochore (GO:0000776), chromatin (GO:0000785), nucleosome (GO:0000786), nucleus (GO:0005634), nucleoplasm (GO:0005654), plasma membrane (GO:0005886), nuclear matrix (GO:0016363), SWI/SNF complex (GO:0016514), RSC-type complex (GO:0016586), Ino80 complex (GO:0031011), protein-containing complex (GO:0032991), brahma complex (GO:0035060), NuA4 histone acetyltransferase complex (GO:0035267), npBAF complex (GO:0071564), GBAF complex (GO:0140288)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
SWI/SNF chromatin remodelers	5
Chromatin modifying enzymes	2
Deubiquitination	1
Global Genome Nucleotide Excision Repair (GG-NER)	1
Transcriptional regulation by RUNX1	1
MITF-M-dependent gene expression	1
Regulation of endogenous retroelements	1
Gene expression (Transcription)	1
RNA Polymerase II Transcription	1
Chromatin organization	1
Post-translational protein modification	1
DNA Repair	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
SWI/SNF superfamily-type complex	5
DNA metabolic process	3
cellular anatomical structure	3
anatomical structure development	2
regulation of DNA metabolic process	2
positive regulation of cellular process	2
cell differentiation	2
regulation of cell differentiation	2
binding	2
nuclear lumen	2
telomere organization	1
blastocyst development	1
anatomical structure formation involved in morphogenesis	1
retina development in camera-type eye	1
DNA replication	1
DNA damage response	1
DNA repair	1
regulation of cellular response to stress	1
chromatin organization	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
system development	1
cell population proliferation	1
regulation of cell population proliferation	1
central nervous system development	1
metaphase/anaphase transition of mitotic cell cycle	1
regulation of mitotic cell cycle phase transition	1
regulation of metaphase/anaphase transition of cell cycle	1
regulation of organelle organization	1
chromosome organization	1
apoptotic process	1
regulation of programmed cell death	1

Protein interactions and networks

STRING

4848 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACTL6A	PHF10	Q8WUB8	999
ACTL6A	SMARCC1	Q92922	997
ACTL6A	SMARCE1	Q969G3	996
ACTL6A	SMARCA4	P51532	996
ACTL6A	SMARCB1	Q12824	995
ACTL6A	SMARCC2	Q8TAQ2	995
ACTL6A	ARID1A	O14497	993
ACTL6A	SMARCD1	Q96GM5	991
ACTL6A	RUVBL1	P82276	990
ACTL6A	RUVBL2	Q9Y230	988
ACTL6A	SMARCA2	P51531	984
ACTL6A	ACTB	P02570	981
ACTL6A	TRRAP	Q9Y4A5	975
ACTL6A	DPF1	Q92782	960
ACTL6A	PBRM1	Q86U86	958

IntAct

202 interactions, top by confidence:

A	B	Type	Score
SMARCA4	ARID1A	psi-mi:“MI:0914”(association)	0.940
SMARCB1	ARID1A	psi-mi:“MI:0914”(association)	0.860
RUVBL1	ZNHIT1	psi-mi:“MI:0914”(association)	0.860
SMARCE1	ARID1A	psi-mi:“MI:0914”(association)	0.840
UCHL5	PSMD11	psi-mi:“MI:0914”(association)	0.840
MRGBP	YEATS4	psi-mi:“MI:0914”(association)	0.840
YY1	ACTL6A	psi-mi:“MI:0914”(association)	0.830
ACTL6A	YY1	psi-mi:“MI:0915”(physical association)	0.830
YY1	ACTL6A	psi-mi:“MI:0915”(physical association)	0.830
ACTL6A	YY1	psi-mi:“MI:0407”(direct interaction)	0.830
RUVBL2	ZNHIT1	psi-mi:“MI:0914”(association)	0.810
SMARCC1	ARID1A	psi-mi:“MI:0914”(association)	0.790
SMARCD1	ARID1A	psi-mi:“MI:0914”(association)	0.790
SMARCC2	ARID1A	psi-mi:“MI:0914”(association)	0.790

BioGRID (533): ACTL6A (Affinity Capture-RNA), ACTL6A (Affinity Capture-RNA), ACTL6A (Affinity Capture-RNA), ACTL6A (Affinity Capture-MS), ACTL6A (Affinity Capture-MS), ACTL6A (Affinity Capture-MS), ACTL6A (Affinity Capture-MS), CYB5R3 (Affinity Capture-MS), RAB1B (Affinity Capture-MS), PDCL (Affinity Capture-MS), SF1 (Affinity Capture-MS), ETF1 (Affinity Capture-MS), TSFM (Affinity Capture-MS), METAP2 (Affinity Capture-MS), SF3A1 (Affinity Capture-MS)

ESM2 similar proteins: A2WNB0, A2XMK6, A2YUL5, A3ANB5, A4FUX8, A4IFE3, F2Z5G5, O94241, O94630, O94805, O96019, O96621, P02583, P32381, P38673, P42025, P45888, P45889, P45890, P45891, P47117, P51775, P53489, P85515, P86173, Q09443, Q09849, Q0IEG8, Q2TA43, Q4R333, Q4R6J9, Q54I79, Q5BL41, Q5NBI2, Q61JZ2, Q6AY16, Q6C982, Q6Z256, Q74ZV8, Q7ZTP2

Diamond homologs: A2BDB0, A2XNS1, A2YR10, A4FUX8, O16808, O18840, O42161, O65315, O65316, O93400, O94805, O96019, P02576, P02578, P04829, P07830, P0DM41, P0DM42, P10981, P10984, P10986, P10987, P17304, P18600, P18603, P20904, P30162, P30163, P41340, P43239, P45885, P45886, P45887, P48975, P49871, P53463, P53464, P53470, P53478, P53485

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
ACTL6A	“form complex”	“SWI/SNF complex”	binding
ACTL6A	“form complex”	“NuA4 complex”	binding
ACTL6A	“form complex”	GBAF	binding
ACTL6A	“form complex”	“SWI/SNF ACTL6A-ARID1A-SMARCA2 variant”	binding
ACTL6A	“form complex”	“Neural progenitor-specific SWI/SNF”	binding
ACTL6A	“form complex”	“Muscle cell-specific SWI/SNF ARID1A variant”	binding
ACTL6A	“form complex”	“Muscle cell-specific SWI/SNF ARID1B variant”	binding
ACTL6A	“form complex”	“INO80 complex”	binding
CDK9	“up-regulates activity”	ACTL6A	phosphorylation
ACTL6A	“form complex”	“Embryonic stem cell-specific SWI/SNF”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 166 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
Formation of the canonical BAF (cBAF) complex	15	79.3×	2e-25
Formation of the embryonic stem cell BAF (esBAF) complex	15	75.1×	7e-25
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	19	72.3×	7e-31
Formation of the polybromo-BAF (pBAF) complex	12	63.4×	2e-18
Formation of the non-canonical BAF (ncBAF) complex	11	61.6×	1e-16
Regulation of endogenous retroelements	15	46.0×	3e-20
Regulation of MITF-M-dependent genes involved in pigmentation	18	39.8×	6e-23
Global Genome Nucleotide Excision Repair (GG-NER)	9	34.3×	8e-11

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of telomere maintenance in response to DNA damage	11	84.6×	2e-18
regulation of DNA strand elongation	11	79.3×	5e-18
regulation of G0 to G1 transition	17	78.5×	2e-27
regulation of chromosome organization	11	70.5×	3e-17
regulation of nucleotide-excision repair	17	70.1×	2e-26
nucleosome disassembly	12	66.0×	3e-18
regulation of mitotic metaphase/anaphase transition	17	57.7×	2e-24
regulation of double-strand break repair	13	51.7×	5e-18

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	50
Likely benign	9
Benign	2

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	Pathogenic
980553	GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1	Pathogenic
1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	Likely pathogenic

SpliceAI

2096 predictions. Top by Δscore:

Variant	Effect	Δscore
3:179569820:TCA:T	acceptor_loss	1.0000
3:179569821:CAG:C	acceptor_loss	1.0000
3:179569822:A:AG	acceptor_gain	1.0000
3:179569822:AGAT:A	acceptor_gain	1.0000
3:179569823:G:GA	acceptor_gain	1.0000
3:179569823:GA:G	acceptor_gain	1.0000
3:179569823:GAT:G	acceptor_gain	1.0000
3:179569823:GATG:G	acceptor_gain	1.0000
3:179569823:GATGA:G	acceptor_gain	1.0000
3:179569899:AG:A	donor_gain	1.0000
3:179569900:GG:G	donor_gain	1.0000
3:179569901:G:A	donor_loss	1.0000
3:179569901:G:GG	donor_gain	1.0000
3:179570201:G:GT	donor_gain	1.0000
3:179570211:G:GT	donor_gain	1.0000
3:179570236:GGA:G	donor_gain	1.0000
3:179570237:GATGG:G	donor_gain	1.0000
3:179570238:A:G	donor_gain	1.0000
3:179573367:A:AG	acceptor_gain	1.0000
3:179573368:G:GG	acceptor_gain	1.0000
3:179574368:A:G	acceptor_gain	1.0000
3:179574480:GA:G	donor_gain	1.0000
3:179574482:G:GG	donor_gain	1.0000
3:179574502:G:GG	donor_gain	1.0000
3:179574563:TTCCG:T	donor_gain	1.0000
3:179576215:A:AG	acceptor_gain	1.0000
3:179576216:G:GA	acceptor_gain	1.0000
3:179576618:A:AG	acceptor_gain	1.0000
3:179576619:G:GG	acceptor_gain	1.0000
3:179576723:AAAA:A	donor_gain	1.0000

AlphaMissense

2833 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:179569842:T:A	V15D	1.000
3:179569874:G:C	G26R	1.000
3:179569875:G:A	G26D	1.000
3:179569875:G:T	G26V	1.000
3:179569881:C:A	A28D	1.000
3:179569896:C:A	P33H	1.000
3:179573450:T:A	V120D	1.000
3:179573453:T:C	L121P	1.000
3:179574390:A:C	R133S	1.000
3:179574390:A:T	R133S	1.000
3:179574398:T:C	L136P	1.000
3:179574434:C:A	A148D	1.000
3:179576218:T:C	F160L	1.000
3:179576220:T:A	F160L	1.000
3:179576220:T:G	F160L	1.000
3:179576254:A:C	S172R	1.000
3:179576256:T:A	S172R	1.000
3:179576256:T:G	S172R	1.000
3:179576276:C:A	A179E	1.000
3:179576285:T:A	V182D	1.000
3:179576294:G:A	G185D	1.000
3:179581180:T:A	V329D	1.000
3:179581188:A:C	S332R	1.000
3:179581190:T:A	S332R	1.000
3:179581190:T:G	S332R	1.000
3:179583414:G:C	R363T	1.000
3:179583414:G:T	R363M	1.000
3:179583415:G:C	R363S	1.000
3:179583415:G:T	R363S	1.000
3:179586603:T:A	W394R	1.000

dbSNP variants (sampled 300 via entrez): RS1000159501 (3:179571226 AGCCTGG>A), RS1000216742 (3:179574221 A>G), RS1000333345 (3:179586234 A>G), RS1000380328 (3:179585926 G>A), RS1000385811 (3:179578313 G>T), RS1000708620 (3:179577831 T>C), RS1000840749 (3:179579847 G>A), RS1000902589 (3:179587815 A>G), RS1000938248 (3:179562578 C>A,G,T), RS1001045528 (3:179573068 C>T), RS1001101288 (3:179561019 CTTTT>C,CT,CTTT,CTTTTT,CTTTTTTTTTTTTTTTTTTT), RS1001138427 (3:179572682 G>A), RS1001168828 (3:179571902 C>T), RS1001170258 (3:179572561 T>C), RS1001222655 (3:179572930 C>T)

Disease associations

OMIM: gene MIM:604958 | disease phenotypes: MIM:607086, MIM:108800, MIM:189600

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal dominant
syndromic intellectual disability	Moderate	Autosomal dominant
intellectual disability	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
ACTL6A-related BAFopathy	Moderate	AD

Mondo (8): ACTL6A-related BAFopathy (MONDO:0700121), familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625), atrial septal defect (MONDO:0006664), inherited torticollis (MONDO:0008583), BAFopathy (MONDO:0700120), syndromic intellectual disability (MONDO:0000508), intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092)

Orphanet (2): Familial thoracic aortic aneurysm and aortic dissection (Orphanet:91387), Interatrial communication (Orphanet:1478)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000473	Torticollis

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009193_3	Pars opercularis volume	6.000000e-06

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D006344	Heart Septal Defects, Atrial	C14.240.400.560.375; C14.280.400.560.375; C16.131.240.400.560.375
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625
C535425	Congenital torticollis (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724740 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

3 potent at pChembl≥5 of 5 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.89	IC50	130	nM	MOLIBRESIB
5.49	Kd	3261	nM	CHEMBL3752910
5.49	ED50	3261	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 10 total; 2 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
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178527: Inhibition of ACTL6A (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.1300	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147794: Binding affinity to human ACTL6A incubated for 45 mins by Kinobead based pull down assay	kd	3.2606	uM

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
Benzo(a)pyrene	decreases expression, increases expression	2
Rotenone	decreases expression, increases expression	2
aristolochic acid I	decreases expression, increases expression	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
bisphenol A	decreases expression	1
geraniol	decreases expression	1
sodium arsenate	decreases expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
picoxystrobin	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	affects methylation	1
Cadmium	increases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Nickel	decreases expression	1
Smoke	decreases expression	1
Urethane	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1
Soot	decreases expression	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
CHEMBL5650836	Binding	Binding affinity to human ACTL6A 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

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
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,
NCT01536717	PHASE4	SUSPENDED	Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery
NCT05688670	PHASE4	COMPLETED	Regional Anesthesia Following Pediatric Cardiac Surgery
NCT06631534	PHASE4	RECRUITING	Effect of Dexmedetomidine Supplementation to General Anaesthesia in Paediatric Transcatheter Closure of Atrial Septal Defect
NCT07054541	PHASE4	NOT_YET_RECRUITING	A Novel Echocardiography-Guided Strategy for Percutateous Closure of Atrial Septal Defect Assisted by PannaWire
NCT07226739	PHASE4	NOT_YET_RECRUITING	Comprehensive Toileting Program
NCT01384214	PHASE4	COMPLETED	Effect of Botulinum Toxin Type A on Swallowing in Patients With Cervical Dystonia
NCT02651311	PHASE4	COMPLETED	Ultrasound Guided Intermediate Cervical Plexus Block for Congenital Muscular Torticollis
NCT02270736	PHASE3	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
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
NCT00480740	PHASE3	COMPLETED	The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease
NCT01773252	PHASE3	TERMINATED	Right to Left Cardiac Shunt Detection
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
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
NCT01183221	PHASE2	COMPLETED	The Effects of Oxytocin on Complex Social Cognition in Autism Spectrum Disorders
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