AGO1

Summary

AGO1 (argonaute RISC component 1, HGNC:3262) is a protein-coding gene on chromosome 1p34.3, encoding Protein argonaute-1 (Q9UL18). Required for RNA-mediated gene silencing (RNAi).

This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon.

Source: NCBI Gene 26523 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 191 total — 1 pathogenic, 13 likely-pathogenic
• Phenotypes (HPO): 37
• MANE Select transcript: NM_012199

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3262
Approved symbol	AGO1
Name	argonaute RISC component 1
Location	1p34.3
Locus type	gene with protein product
Status	Approved
Aliases	hAGO1
Ensembl gene	ENSG00000092847
Ensembl biotype	protein_coding
OMIM	606228
Entrez	26523

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 5 nonsense_mediated_decay

ENST00000373204, ENST00000373206, ENST00000635259, ENST00000674426, ENST00000699841, ENST00000699842, ENST00000699843, ENST00000699844, ENST00000910381, ENST00000910382, ENST00000910383, ENST00000931710, ENST00000931711

RefSeq mRNA: 3 — MANE Select: NM_012199 NM_001317122, NM_001317123, NM_012199

CCDS: CCDS398, CCDS81300, CCDS90915

Canonical transcript exons

ENST00000373204 — 19 exons

Exon	Start	End
ENSE00000594948	35901474	35901593
ENSE00000766012	35893097	35893278
ENSE00000766016	35894037	35894171
ENSE00000766075	35901948	35902070
ENSE00000766077	35902204	35902337
ENSE00000766079	35906935	35907119
ENSE00000766081	35913842	35914001
ENSE00000766083	35914184	35914274
ENSE00000766085	35915348	35915542
ENSE00000766086	35917593	35917727
ENSE00000766088	35918322	35918423
ENSE00001459760	35919499	35930532
ENSE00001459761	35883209	35883446
ENSE00001631240	35919055	35919254
ENSE00001644212	35894315	35894402
ENSE00001684483	35893674	35893810
ENSE00001795442	35895122	35895269
ENSE00003669834	35892557	35892677
ENSE00003691414	35888427	35888610

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 89.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.1619 / max 225.1369, expressed in 1815 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2132	12.8922	1789
2133	9.2925	1771
2131	1.2002	105
2135	0.7770	305

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	89.91	gold quality
cervix squamous epithelium	UBERON:0006922	89.37	silver quality
visceral pleura	UBERON:0002401	89.06	gold quality
tendon of biceps brachii	UBERON:0008188	88.63	gold quality
pleura	UBERON:0000977	88.54	gold quality
parietal pleura	UBERON:0002400	88.44	gold quality
ventricular zone	UBERON:0003053	87.04	gold quality
adrenal tissue	UBERON:0018303	85.66	gold quality
hair follicle	UBERON:0002073	85.61	silver quality
monocyte	CL:0000576	85.43	gold quality
leukocyte	CL:0000738	85.40	gold quality
mononuclear cell	CL:0000842	85.39	gold quality
medial globus pallidus	UBERON:0002477	84.75	gold quality
tibia	UBERON:0000979	84.65	gold quality
stromal cell of endometrium	CL:0002255	84.44	gold quality
esophagus squamous epithelium	UBERON:0006920	84.22	gold quality
ileal mucosa	UBERON:0000331	84.15	gold quality
middle temporal gyrus	UBERON:0002771	83.45	gold quality
parotid gland	UBERON:0001831	83.42	gold quality
squamous epithelium	UBERON:0006914	83.32	gold quality
embryo	UBERON:0000922	83.07	gold quality
colonic epithelium	UBERON:0000397	82.79	gold quality
epithelial cell of pancreas	CL:0000083	82.56	silver quality
metanephric glomerulus	UBERON:0004736	82.48	gold quality
nephron tubule	UBERON:0001231	82.43	gold quality
renal glomerulus	UBERON:0000074	82.38	gold quality
germinal epithelium of ovary	UBERON:0001304	82.30	gold quality
tibialis anterior	UBERON:0001385	82.29	silver quality
blood	UBERON:0000178	82.24	gold quality
myocardium	UBERON:0002349	82.18	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.79

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
CCNB1	Activation
IL2	Activation
RELA	Activation

Upstream regulators (CollecTRI, top): DNMT1, ESR1, MYC, SOX4

miRNA regulators (miRDB)

315 targeting AGO1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-371A-3P	99.99	66.77	91
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595

Literature-anchored findings (GeneRIF, showing 40)

• describes cloning rat sequence and used RNA interference to show that the GERp95 orthologue in C. elegans is important for maturation of germ-line stem cells in the gonad. (PMID:10512872)
• 2.6 A crystal structure of the PAZ domain from human Argonaute eIF2c1 bound to both ends of a 9-mer siRNA-like duplex (PMID:15152257)
• These results establish a connection between RNA interference components AGO1 and TRBP2, RNAPII transcription and Polycomb-regulated control of gene expression. (PMID:16936726)
• AGO1 and AGO2 associate with promoter DNA in cells treated with antigene RNAs (agRNAs), and inhibiting expression of AGO1 or AGO2 reverses transcriptional and post-transcriptional silencing. (PMID:16936728)
• a unique amino acid sequence in human DICER protein is essential for binding to Argonaute family proteins (PMID:17482383)
• Results describe a repetitive motif within Tas3, termed the ‘Argonaute hook’, that is conserved from yeast to humans and binds Ago1 and 2 through their PIWI domains in vitro and in vivo. (PMID:17891150)
• Data show that Argonaute1 and 2 reside in three complexes with distinct Dicer and RNA-induced silencing complex activities, and that the putative RNA-binding protein RBM4 is required for microRNA-guided gene regulation. (PMID:17932509)
• findings show that miRNA function is effected by AGO1-GW182 complexes and the role of GW182 in silencing goes beyond promoting deadenylation (PMID:18345015)
• The specificity of RNA interference depends on the concentration of Ago1, Ago3, and Ago4 relative to Ago2. (PMID:18771919)
• EIF2C1 protein expressed during the differentiation of N-type and S-type cells decreased from one of I-type cells to the central period of differentiation. (PMID:19393748)
• Data show that Ago1 and Ago2 (which encode argonautes, the key proteins forming the RNA-induced silencing complex (RISC)) had significantly higher expression levels in ER- than in ER+ breast cancer. (PMID:19723326)
• Study analyzed the association of Argonaute/EIF2C-miRNA complexes with target mRNAs and the degradation of these messages. (PMID:19767416)
• The authors demonstrate that AGO1 uses only miRNA duplexes when assembling translational repression-competent complexes, whereas AGO2 can use both miRNA and siRNA duplexes. (PMID:19946268)
• These data suggest that Axl acts as a tumor lymphatic metastasis-associated gene, and may function partly through the regulation of Cyr61. (PMID:20721975)
• Data show that Ago1, but not Ago2, overexpression in neuroblastoma cells causes slowing of the cell cycle, decreased cellular motility, and a stronger apoptotic response to UV. (PMID:21846468)
• DGCR8, AGO1, AGO2, PACT, and TARBP1 expression levels were significantly higher in the epithelial skin cancer groups than the healthy controls (P > 0.05). (PMID:22025453)
• Mammalian PUM2-Ago-eEF1A inhibited translation of nonadenylated and polyadenylated reporter mRNAs in vitro. (PMID:22231398)
• Ago3 is able to load microRNAs efficiently in the absence of Ago1 and Ago2, despite a significant loss of global microRNA expression (PMID:22474261)
• Drosha, Dicer, Argonaute 1, and Argonaute 2 are differentially expressed at different metastatic sites in ovarian carcinoma compared with primary carcinomas. (PMID:22647351)
• Study observed a dramatic difference in AGO1 and AGO2 associated miRNA profiles in blood plasma. The lack of correlation between AGO1 and AGO2 miRNA content in the plasma can be explained by the fact that many tissues contribute to the extracellular miRNA content. (PMID:22858679)
• AGO1 and AGO2 proteins couple RNA polymerase II elongation to chromatin modification (PMID:22961379)
• Ago2 and Ago1 can slice, and thus functionally bind, preannealed siRNA-mRNA duplexes. (PMID:23019594)
• Tumor xenografts and human cancer specimens indicate that AGO1-mediated translational desuppression of VEGF may be associated with tumor angiogenesis and poor prognosis. (PMID:23426184)
• PIWI-domain mutations in Ago1 may misarrange the catalytic center. Replacing Ago1 cluster 2 by the sequence found in Ago2 fully activated the Ago1 PIWI domain only when the Ago1 PIWI domain was placed into the Ago2 backbone. (PMID:23665583)
• Aberrant expression of argonaute-1/-2 in human renal cell carcinoma is possibly involved with tumorigenesis and prognosis. (PMID:23696926)
• Completion of the tetrad, combined with a mutation on a loop adjacent to the active site of hAgo1, results in slicer activity that is substantially enhanced by swapping in the N domain of hAgo2. (PMID:23746446)
• The Ago1 N domain performed best when juxtaposed with cognate PAZ and MID. This exemplifies the importance of proper intermolecular-domain interactions. (PMID:23748378)
• Evolutionary amino acid changes to hAGO1 were readily reversible, suggesting that loading of guide RNA and pairing of seed-based miRNA and target RNA constrain its sequence drift. (PMID:23809764)
• nuclear Ago1 directly interacts with RNA Polymerase II and is widely associated with chromosomal loci throughout the genome with preferential enrichment in promoters of transcriptionally active genes (PMID:24086155)
• Argonaute-1 binds transcriptional enhancers and controls constitutive and alternative splicing (PMID:25313066)
• EIF2C2, Dicer, and Drosha are more highly expressed in bladder carcinoma, promote the development of bladder cancer, and suggested a poor prognosis (PMID:25656609)
• Blocking AGO1, AGO2, or TRBP expression changes expression levels and nuclear distribution of RNAi factors Dicer, TNRC6A (GW182), and TRBP. (PMID:26242502)
• Low AGO1 expression is associated with melanoma. (PMID:27518285)
• We selected five single nucleotide polymorphisms (SNPs) (rs7813, rs2740349, rs2291778, rs910924, rs595961) in two key microRNA biosynthesis genes (GEMIN4 and AGO1) and systematically evaluated the association between these SNPs, the gene-environment interaction and lung cancer risk. This is the first study showing that rs7813 and rs595961 could be meaningful as genetic markers for lung cancer risk. (PMID:27669275)
• E-cadherin silencing relies on the formation of a complex between the paRNA and microRNA-guided Argonaute 1 that, together, recruit SUV39H1 and induce repressive chromatin modifications in the gene promoter (PMID:28555645)
• In miRNA-mediated gene silencing, the physical interaction between human Argonaute (hAgo) and GW182 (hGW182) is essential for facilitating the downstream silencing of the targeted mRNA. hGW182 can recruit up to three copies of hAgo via its three GW motifs. This may explain the observed cooperativity in miRNA-mediated gene silencing. (PMID:28781232)
• the polymorphisms of the AGO1 and AGO2 genes, the expression levels of which correlated with the proportion of Th17 cells, were associated with the development and prognosis of Graves’ disease. (PMID:29256262)
• AGO1 may promote hepatocellular carcinoma metastasis through TGF-beta pathway. (PMID:29487329)
• AGO1 missense mutation was identified in a patient with syndromic form of intellectual disability/autism spectrum disorder. (PMID:30213762)
• Effects of the PIWI/MID domain of Argonaute protein on the association of miRNAi’s seed base with the target have been reported. (PMID:30770397)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	ago1	ENSDARG00000092644
mus_musculus	Ago1	ENSMUSG00000041530
rattus_norvegicus	Ago1	ENSRNOG00000055915
caenorhabditis_elegans	ppw-1	WBGENE00004093
caenorhabditis_elegans	ppw-2	WBGENE00004094
caenorhabditis_elegans		WBGENE00006449
caenorhabditis_elegans		WBGENE00007624
caenorhabditis_elegans		WBGENE00010263
caenorhabditis_elegans	wago-1	WBGENE00011061
caenorhabditis_elegans		WBGENE00011910
caenorhabditis_elegans	sago-2	WBGENE00018921
caenorhabditis_elegans		WBGENE00020707
caenorhabditis_elegans		WBGENE00022877

Paralogs (3): AGO2 (ENSG00000123908), AGO3 (ENSG00000126070), AGO4 (ENSG00000134698)

Protein

Protein identifiers

Protein argonaute-1 — Q9UL18 (reviewed: Q9UL18)

Alternative names: Argonaute RISC catalytic component 1, Eukaryotic translation initiation factor 2C 1, Putative RNA-binding protein Q99

All UniProt accessions (8): Q9UL18, A0A0U1RQZ8, A0A6I8PTZ8, A0A8V8TNY0, A0A8V8TPF2, A0A8V8TQA7, A0A8V8TQN5, Q5TA58

UniProt curated annotations — full annotation on UniProt →

Function. Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) or short interfering RNAs (siRNAs), and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for transcriptional gene silencing (TGS) of promoter regions which are complementary to bound short antigene RNAs (agRNAs).

Subunit / interactions. Interacts with DDB1, DDX5, DDX6, DHX30, DHX36, DDX47, DICER1, AGO2, ELAVL1, HNRNPF, IGF2BP1, ILF3, IMP8, MATR3, MOV10, PABPC1, PRMT5, RBM4, SART3, TNRC6B, UPF1 and YBX1. Associates with polysomes and messenger ribonucleoproteins (mNRPs). Interacts with LIMD1, WTIP and AJUBA. Interacts with APOBEC3F, APOBEC3G and APOBEC3H.

Subcellular location. Cytoplasm. P-body.

Post-translational modifications. Ubiquitinated on surface-exposed lysines by a SCF-like E3 ubiquitin-protein ligase complex containing ZSWIM8 during target-directed microRNA degradation (TDMD), a process that mediates degradation of microRNAs (miRNAs). Ubiquitination by the SCF-like E3 ubiquitin-protein ligase complex containing ZSWIM8 leads to its subsequent degradation, thereby exposing miRNAs for degradation. ZSWIM8 recognizes and binds AGO1 when it is engaged with a TDMD target.

Disease relevance. Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292] An autosomal dominant neurodevelopmental disorder characterized by global developmental delay with intellectual disability of varying severity, speech and motor delay, and behavioral abnormalities, including autistic features. About half of patients develop seizures. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Lacks RNA cleavage activity due to the absence of the conserved His at position 805, but also because it binds the RNA in a subtly different manner that precludes efficient cleavage.

Similarity. Belongs to the argonaute family. Ago subfamily.

RefSeq proteins (3): NP_001304051, NP_001304052, NP_036331* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003100	PAZ_dom	Domain
IPR003165	Piwi	Domain
IPR012337	RNaseH-like_sf	Homologous_superfamily
IPR014811	ArgoL1	Domain
IPR032472	ArgoL2	Domain
IPR032473	Argonaute_Mid_dom	Domain
IPR032474	Argonaute_N	Domain
IPR036085	PAZ_dom_sf	Homologous_superfamily
IPR036397	RNaseH_sf	Homologous_superfamily
IPR045246	Piwi_ago-like	Domain

Pfam: PF02170, PF02171, PF08699, PF16486, PF16487, PF16488

UniProt features (104 total): strand 36, helix 29, sequence variant 17, turn 8, region of interest 6, mutagenesis site 4, domain 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
4KRE	X-RAY DIFFRACTION	1.75
4KRF	X-RAY DIFFRACTION	2.1
4KXT	X-RAY DIFFRACTION	2.29
1SI2	X-RAY DIFFRACTION	2.6
1SI3	X-RAY DIFFRACTION	2.6
5W6V	X-RAY DIFFRACTION	2.83
9Q3F	ELECTRON MICROSCOPY	3.3
9Q3G	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UL18-F1	91.45	0.80

Functional residue map

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

Mutagenesis-validated functional residues (4):

Position	Phenotype
670	confers modest rna cleavage activity; when associated with q-675 and h-805.
674	confers modest rna cleavage activity; when associated with h-805.
675	does not confer enzyme activity by itself. confers low rna cleavage activity; when associated with h-805. confers modest
805	does not confer enzyme activity by itself. confers modest rna cleavage activity; when associated with f-674.

Function

Pathways and Gene Ontology

Reactome pathways

66 pathways

ID	Pathway
R-HSA-165159	MTOR signalling
R-HSA-1912408	Pre-NOTCH Transcription and Translation
R-HSA-203927	MicroRNA (miRNA) biogenesis
R-HSA-2559580	Oxidative Stress Induced Senescence
R-HSA-2559585	Oncogene Induced Senescence
R-HSA-4086398	Ca2+ pathway
R-HSA-426486	Small interfering RNA (siRNA) biogenesis
R-HSA-426496	Post-transcriptional silencing by small RNAs
R-HSA-5578749	Transcriptional regulation by small RNAs
R-HSA-5628897	TP53 Regulates Metabolic Genes
R-HSA-5687128	MAPK6/MAPK4 signaling
R-HSA-8853884	Transcriptional Regulation by VENTX
R-HSA-8934593	Regulation of RUNX1 Expression and Activity
R-HSA-8936459	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-8943723	Regulation of PTEN mRNA translation
R-HSA-8948700	Competing endogenous RNAs (ceRNAs) regulate PTEN translation
R-HSA-8986944	Transcriptional Regulation by MECP2
R-HSA-9018519	Estrogen-dependent gene expression
R-HSA-9022692	Regulation of MECP2 expression and activity
R-HSA-9029569	NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
R-HSA-9725371	Nuclear events stimulated by ALK signaling in cancer
R-HSA-9759811	Regulation of CDH11 mRNA translation by microRNAs
R-HSA-9764562	Regulation of CDH1 mRNA translation by microRNAs
R-HSA-9768778	Regulation of NPAS4 mRNA translation
R-HSA-9824594	Regulation of MITF-M-dependent genes involved in apoptosis
R-HSA-9839394	TGFBR3 expression
R-HSA-9909620	Regulation of PD-L1(CD274) translation
R-HSA-1257604	PIP3 activates AKT signaling
R-HSA-1266738	Developmental Biology
R-HSA-1500931	Cell-Cell communication

MSigDB gene sets: 505 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, AGGAAGC_MIR5163P, MYAATNNNNNNNGGC_UNKNOWN, REACTOME_SIGNALING_BY_NOTCH, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, MYOGENIN_Q6, TGCGCANK_UNKNOWN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, GOMF_NUCLEASE_ACTIVITY, AAGTCCA_MIR422B_MIR422A, TTTGTAG_MIR520D

GO Biological Process (14): nuclear-transcribed mRNA catabolic process (GO:0000956), miRNA metabolic process (GO:0010586), positive regulation of gene expression (GO:0010628), negative regulation of angiogenesis (GO:0016525), pre-miRNA processing (GO:0031054), regulatory ncRNA-mediated post-transcriptional gene silencing (GO:0035194), miRNA processing (GO:0035196), miRNA-mediated gene silencing by inhibition of translation (GO:0035278), regulation of mRNA stability (GO:0043488), positive regulation of transcription by RNA polymerase II (GO:0045944), RISC complex assembly (GO:0070922), positive regulation of non-canonical NF-kappaB signal transduction (GO:1901224), regulation of translation (GO:0006417), regulatory ncRNA-mediated gene silencing (GO:0031047)

GO Molecular Function (11): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), RNA polymerase II complex binding (GO:0000993), core promoter sequence-specific DNA binding (GO:0001046), RNA binding (GO:0003723), double-stranded RNA binding (GO:0003725), single-stranded RNA binding (GO:0003727), miRNA binding (GO:0035198), transcription cis-regulatory region binding (GO:0000976), nucleic acid binding (GO:0003676), protein binding (GO:0005515), regulatory RNA binding (GO:0061980)

GO Cellular Component (9): P-body (GO:0000932), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), RISC complex (GO:0016442), cytoplasmic ribonucleoprotein granule (GO:0036464), RISC-loading complex (GO:0070578), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Gene Silencing by RNA	4
Cellular Senescence	2
Generic Transcription Pathway	2
Transcriptional regulation by RUNX1	2
Signal Transduction	1
Pre-NOTCH Expression and Processing	1
Beta-catenin independent WNT signaling	1
Transcriptional Regulation by TP53	1
MAPK family signaling cascades	1
PTEN Regulation	1
Regulation of PTEN mRNA translation	1
ESR-mediated signaling	1
Transcriptional Regulation by MECP2	1
NR1H2 and NR1H3-mediated signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA binding	3
cellular anatomical structure	3
regulatory ncRNA-mediated gene silencing	2
binding	2
cytoplasm	2
mRNA catabolic process	1
RNA metabolic process	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
angiogenesis	1
regulation of angiogenesis	1
negative regulation of blood vessel morphogenesis	1
miRNA processing	1
post-transcriptional gene silencing	1
regulatory ncRNA processing	1
negative regulation of translation	1
miRNA-mediated post-transcriptional gene silencing	1
regulation of RNA stability	1
regulation of mRNA catabolic process	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
protein-RNA complex assembly	1
non-canonical NF-kappaB signal transduction	1
regulation of non-canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
translation	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
negative regulation of gene expression	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
RNA polymerase core enzyme binding	1
transcription cis-regulatory region binding	1
nucleic acid binding	1
regulatory RNA binding	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cytoplasmic ribonucleoprotein granule	1

Protein interactions and networks

STRING

2578 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AGO1	DICER1	Q9UPY3	999
AGO1	TNRC6A	Q8NDV7	998
AGO1	AGO2	Q9UKV8	982
AGO1	DDX6	P26196	978
AGO1	AGO4	Q9HCK5	975
AGO1	FMR1	Q06787	971
AGO1	MOV10	Q9HCE1	968
AGO1	TARBP2	Q15633	963
AGO1	TNRC6B	Q9UPQ9	948
AGO1	DROSHA	Q9NRR4	939
AGO1	DDX20	Q9UHI6	927
AGO1	HSP90AA1	P07900	916
AGO1	TRIM32	Q13049	881
AGO1	AGO3	Q9H9G7	858
AGO1	HDAC1	Q13547	853

IntAct

88 interactions, top by confidence:

A	B	Type	Score
TNRC6A	AGO2	psi-mi:“MI:0914”(association)	0.960
AGO1	TNRC6A	psi-mi:“MI:0914”(association)	0.900
TNRC6A	AGO1	psi-mi:“MI:0915”(physical association)	0.900
TNRC6A	AGO1	psi-mi:“MI:0403”(colocalization)	0.900
AGO1	DICER1	psi-mi:“MI:0915”(physical association)	0.830
AGO2	DDX6	psi-mi:“MI:0914”(association)	0.810
AGO1	HSP90AB1	psi-mi:“MI:0915”(physical association)	0.740
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
AGO2	AGO1	psi-mi:“MI:0407”(direct interaction)	0.720
AGO1	TNRC6B	psi-mi:“MI:0407”(direct interaction)	0.680
AGO1	TNRC6B	psi-mi:“MI:0915”(physical association)	0.680
AGO1	TNRC6B	psi-mi:“MI:0403”(colocalization)	0.680
DNAJC7	PLD2	psi-mi:“MI:0914”(association)	0.640
PABPC1	AGO2	psi-mi:“MI:0914”(association)	0.640
PPP5C	AGO1	psi-mi:“MI:0915”(physical association)	0.620
PRNP	AGO1	psi-mi:“MI:0915”(physical association)	0.610
AGO1	TNRC6C	psi-mi:“MI:0915”(physical association)	0.600
AGO1	TNRC6C	psi-mi:“MI:0403”(colocalization)	0.600
PPP5C	IRS4	psi-mi:“MI:0914”(association)	0.570
AGO1	LIMD1	psi-mi:“MI:0915”(physical association)	0.570
AGO1	LIMD1	psi-mi:“MI:0407”(direct interaction)	0.570
AGO1	LIMD1	psi-mi:“MI:0403”(colocalization)	0.570
AGO2	FKBP5	psi-mi:“MI:0914”(association)	0.530
AGO1	AIP	psi-mi:“MI:0914”(association)	0.530
TRMT13	STAG1	psi-mi:“MI:0914”(association)	0.530

BioGRID (256): AGO1 (Affinity Capture-RNA), AGO1 (Affinity Capture-RNA), AGO1 (Affinity Capture-MS), AGO1 (Co-fractionation), AGO1 (Reconstituted Complex), CYLD (Affinity Capture-RNA), TAX1BP1 (Affinity Capture-RNA), OTUD7B (Affinity Capture-RNA), AGO1 (Affinity Capture-MS), AGO1 (Affinity Capture-MS), AGO1 (Affinity Capture-MS), AGO1 (Affinity Capture-MS), AGO1 (Affinity Capture-Western), AGO1 (Affinity Capture-MS), AGO1 (Affinity Capture-MS)

ESM2 similar proteins: A2CEI6, A3KPK0, A6P7L8, A8D8P8, A8KBF3, A9ZSZ2, O04379, O48771, O76922, O77503, O89040, Q0JF58, Q4G033, Q4KLV6, Q5NBN9, Q5Z5B2, Q5ZLG4, Q5ZMW0, Q69VD5, Q6DCX2, Q6DJB9, Q6EU14, Q6K972, Q6QME8, Q6T5B7, Q6YSJ5, Q6Z4F1, Q7PLK0, Q7XSA2, Q7Y001, Q7Z3Z3, Q7Z3Z4, Q84VQ0, Q851R2, Q8CDG1, Q8CGT6, Q8CJF8, Q8CJF9, Q8CJG0, Q8CJG1

Diamond homologs: A3KPK0, O04379, O48771, O74957, O77503, P34681, Q0JF58, Q10F39, Q4KLV6, Q5NBN9, Q5Z5B2, Q5ZLG4, Q5ZMW0, Q69UP6, Q69VD5, Q6DCX2, Q6DJB9, Q6EU14, Q6H6C3, Q6K972, Q6QME8, Q6T5B7, Q6YSJ5, Q6Z4F1, Q75HC2, Q7XSA2, Q7XTS3, Q7XTS4, Q7Y001, Q84VQ0, Q851R2, Q852N2, Q8CJF8, Q8CJF9, Q8CJG0, Q8CJG1, Q9C793, Q9H9G7, Q9HCK5, Q9QZ81

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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 MITF-M-dependent genes involved in apoptosis	6	57.7×	6e-08
Regulation of RUNX1 Expression and Activity	5	50.9×	2e-06
TGFBR3 expression	5	34.6×	1e-05
Regulation of MECP2 expression and activity	5	27.9×	3e-05
Transcriptional Regulation by MECP2	5	24.0×	6e-05
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux	5	23.4×	7e-05
MTOR signalling	5	20.1×	1e-04
Transcriptional Regulation by VENTX	5	20.1×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
miRNA-mediated gene silencing by inhibition of translation	8	88.7×	1e-11
positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	6	84.3×	8e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	13
Uncertain significance	123
Likely benign	19
Benign	7

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
976687	NM_012199.5(AGO1):c.650-2A>G	Pathogenic
1299669	NM_012199.5(AGO1):c.583G>A (p.Glu195Lys)	Likely pathogenic
1300187	NM_012199.5(AGO1):c.2252A>T (p.His751Leu)	Likely pathogenic
1300188	NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe)	Likely pathogenic
148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	Likely pathogenic
1750732	NM_012199.5(AGO1):c.595G>T (p.Gly199Cys)	Likely pathogenic
2531391	NM_012199.5(AGO1):c.1354G>A (p.Ala452Thr)	Likely pathogenic
3254954	NM_012199.5(AGO1):c.1249C>A (p.Gln417Lys)	Likely pathogenic
3276168	NM_012199.5(AGO1):c.1066G>A (p.Asp356Asn)	Likely pathogenic
3366942	NM_012199.5(AGO1):c.1594C>T (p.Arg532Cys)	Likely pathogenic
4024530	NM_012199.5(AGO1):c.2466-1G>A	Likely pathogenic
4082190	NM_012199.5(AGO1):c.1067A>G (p.Asp356Gly)	Likely pathogenic
547981	NM_012199.5(AGO1):c.566C>T (p.Pro189Leu)	Likely pathogenic
984614	NM_012199.5(AGO1):c.569T>C (p.Leu190Pro)	Likely pathogenic

SpliceAI

3319 predictions. Top by Δscore:

Variant	Effect	Δscore
1:35888426:GCT:G	acceptor_gain	1.0000
1:35888607:ACCGG:A	donor_loss	1.0000
1:35888608:CCG:C	donor_gain	1.0000
1:35888608:CCGG:C	donor_loss	1.0000
1:35888609:CGGT:C	donor_loss	1.0000
1:35888610:GGT:G	donor_loss	1.0000
1:35888611:G:GA	donor_loss	1.0000
1:35888611:G:GG	donor_gain	1.0000
1:35888612:T:TC	donor_loss	1.0000
1:35892556:GGGAA:G	acceptor_gain	1.0000
1:35892676:GG:G	donor_gain	1.0000
1:35892677:GG:G	donor_gain	1.0000
1:35892677:GGTAA:G	donor_loss	1.0000
1:35892678:G:GA	donor_loss	1.0000
1:35892678:G:GG	donor_gain	1.0000
1:35892679:TAA:T	donor_loss	1.0000
1:35893085:A:AG	acceptor_gain	1.0000
1:35893086:C:G	acceptor_gain	1.0000
1:35893092:T:A	acceptor_gain	1.0000
1:35894034:CA:C	acceptor_loss	1.0000
1:35894035:A:AG	acceptor_gain	1.0000
1:35894036:G:GC	acceptor_gain	1.0000
1:35894036:GT:G	acceptor_gain	1.0000
1:35894036:GTC:G	acceptor_gain	1.0000
1:35894036:GTCT:G	acceptor_gain	1.0000
1:35894036:GTCTC:G	acceptor_gain	1.0000
1:35894168:AAGGG:A	donor_loss	1.0000
1:35894169:AGGGT:A	donor_loss	1.0000
1:35894170:GG:G	donor_gain	1.0000
1:35894171:GG:G	donor_gain	1.0000

AlphaMissense

5619 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:35888524:T:A	N41K	1.000
1:35888524:T:G	N41K	1.000
1:35888610:G:C	R70P	1.000
1:35892624:G:C	D93H	1.000
1:35892625:A:T	D93V	1.000
1:35892627:G:A	G94R	1.000
1:35892627:G:C	G94R	1.000
1:35892628:G:A	G94E	1.000
1:35892628:G:T	G94V	1.000
1:35892642:T:G	Y99D	1.000
1:35893142:T:C	F126L	1.000
1:35893143:T:C	F126S	1.000
1:35893144:T:A	F126L	1.000
1:35893144:T:G	F126L	1.000
1:35893149:T:A	V128D	1.000
1:35893699:T:C	F180L	1.000
1:35893701:C:A	F180L	1.000
1:35893701:C:G	F180L	1.000
1:35893756:G:C	G199R	1.000
1:35893757:G:A	G199D	1.000
1:35893757:G:T	G199V	1.000
1:35893799:T:C	L213P	1.000
1:35894049:C:A	A221D	1.000
1:35894051:T:C	F222L	1.000
1:35894053:T:A	F222L	1.000
1:35894053:T:G	F222L	1.000
1:35894145:G:C	R253P	1.000
1:35894154:T:C	F256S	1.000
1:35894318:T:C	L263P	1.000
1:35894324:T:A	V265E	1.000

dbSNP variants (sampled 300 via entrez): RS1000050388 (1:35928283 T>C), RS1000051127 (1:35897989 T>C), RS1000081545 (1:35879968 T>A), RS1000206497 (1:35924089 G>A), RS1000221753 (1:35893252 G>A), RS1000242529 (1:35870569 A>C), RS1000280959 (1:35930003 T>A,C,G), RS1000374151 (1:35930873 G>A,C), RS1000404100 (1:35925005 C>G), RS1000435153 (1:35924744 G>A), RS1000444839 (1:35890351 A>C,G,T), RS1000466575 (1:35900427 T>C), RS1000473891 (1:35930134 C>T), RS1000485133 (1:35880324 G>A), RS1000571739 (1:35873843 A>C)

Disease associations

OMIM: gene MIM:606228 | disease phenotypes: MIM:620292

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AD

Mondo (3): intellectual disability (MONDO:0001071), neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (MONDO:0859531), neurodevelopmental disorder (MONDO:0700092)

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

HPO phenotypes

37 total (30 of 37 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000219	Thin upper lip vermilion
HP:0000286	Epicanthus
HP:0000311	Round face
HP:0000348	High forehead
HP:0000400	Macrotia
HP:0000414	Bulbous nose
HP:0000431	Wide nasal bridge
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000506	Telecanthus
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0000733	Motor stereotypy
HP:0000739	Anxiety
HP:0000750	Delayed speech and language development
HP:0000752	Hyperactivity
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0002020	Gastroesophageal reflux
HP:0002069	Bilateral tonic-clonic seizure
HP:0002133	Status epilepticus
HP:0002342	Moderate intellectual disability
HP:0002360	Sleep disturbance
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
HP:0002384	Focal impaired awareness seizure
HP:0003196	Short nose

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST012047_1	Fasting glucose	9.000000e-07

MeSH disease descriptors (2)

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: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs595961	AGO1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects binding, increases reaction, decreases expression	2
Cisplatin	affects cotreatment, increases expression, decreases expression	2
Dronabinol	increases expression	2
Tretinoin	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
Vorinostat	decreases expression	1
Air Pollutants	affects response to substance	1
Vehicle Emissions	affects response to substance	1
Benzene	increases expression	1
Carbamazepine	affects expression	1
Catechin	affects cotreatment, increases expression	1
Estradiol	affects expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Ribonucleotides	affects binding	1
Thimerosal	decreases expression	1
Thiram	decreases expression	1
Urethane	increases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1J7	Abcam HeLa AGO1 KO	Cancer cell line	Female
CVCL_SB94	HAP1 AGO1 (-) 1	Cancer cell line	Male
CVCL_SB95	HAP1 AGO1 (-) 2	Cancer cell line	Male
CVCL_SB96	HAP1 AGO1 (-) 3	Cancer cell line	Male
CVCL_SB97	HAP1 AGO1 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

197 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
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
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
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders