AUTS2

Summary

AUTS2 (activator of transcription and developmental regulator AUTS2, HGNC:14262) is a protein-coding gene on chromosome 7q11.22, encoding Autism susceptibility gene 2 protein (Q8WXX7). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. It is haploinsufficient (ClinGen: sufficient evidence).

This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 26053 — RefSeq curated summary.

At a glance

• Gene–disease (curated): syndromic intellectual disability (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 57
• Clinical variants (ClinVar): 1,416 total — 114 pathogenic, 48 likely-pathogenic
• Phenotypes (HPO): 70
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_015570

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14262
Approved symbol	AUTS2
Name	activator of transcription and developmental regulator AUTS2
Location	7q11.22
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0442, FBRSL2
Ensembl gene	ENSG00000158321
Ensembl biotype	protein_coding
OMIM	607270
Entrez	26053

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 16 protein_coding, 10 retained_intron, 4 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay

ENST00000342771, ENST00000403018, ENST00000406775, ENST00000416482, ENST00000418686, ENST00000439256, ENST00000443672, ENST00000449547, ENST00000464768, ENST00000465899, ENST00000475660, ENST00000476695, ENST00000481994, ENST00000483297, ENST00000489774, ENST00000498384, ENST00000611706, ENST00000615871, ENST00000643060, ENST00000643587, ENST00000643936, ENST00000644359, ENST00000644506, ENST00000644939, ENST00000644949, ENST00000646136, ENST00000646193, ENST00000647121, ENST00000647140, ENST00000656200, ENST00000656998, ENST00000659051, ENST00000664521, ENST00000700075

RefSeq mRNA: 3 — MANE Select: NM_015570 NM_001127231, NM_001127232, NM_015570

CCDS: CCDS47601, CCDS47602, CCDS5539

Canonical transcript exons

ENST00000342771 — 19 exons

Exon	Start	End
ENSE00001038369	70787209	70787431
ENSE00001090863	70762870	70763341
ENSE00001311771	70764752	70765005
ENSE00001316169	70698569	70698620
ENSE00001326469	70435752	70435781
ENSE00001662974	69598475	69599962
ENSE00003467264	70785955	70786038
ENSE00003478060	70774028	70774099
ENSE00003495311	70781615	70781756
ENSE00003501395	70118132	70118233
ENSE00003537068	70784942	70785019
ENSE00003549352	70134536	70134571
ENSE00003555910	70771549	70771644
ENSE00003580330	70775357	70775386
ENSE00003605416	69899286	69899498
ENSE00003615995	70766114	70766334
ENSE00003619473	70777103	70777174
ENSE00003621527	70768024	70768068
ENSE00003830314	70789748	70793506

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.4732 / max 635.2414, expressed in 1508 samples.

FANTOM5 promoters (33 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78963	13.2388	1325
78923	2.2649	761
78965	2.1616	847
78924	2.1571	757
78926	1.8071	620
78959	1.0327	243
78970	1.0295	435
78922	0.8813	412
78976	0.6932	297
78925	0.5763	308

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	99.22	gold quality
tibia	UBERON:0000979	98.88	gold quality
ganglionic eminence	UBERON:0004023	98.44	gold quality
bronchial epithelial cell	CL:0002328	98.20	gold quality
sural nerve	UBERON:0015488	98.10	gold quality
epithelium of bronchus	UBERON:0002031	98.01	gold quality
bronchus	UBERON:0002185	97.91	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.73	gold quality
parotid gland	UBERON:0001831	97.64	gold quality
embryo	UBERON:0000922	97.24	gold quality
mammary duct	UBERON:0001765	96.90	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	96.89	gold quality
epithelium of mammary gland	UBERON:0003244	96.67	gold quality
upper leg skin	UBERON:0004262	96.41	gold quality
lateral globus pallidus	UBERON:0002476	95.71	gold quality
cartilage tissue	UBERON:0002418	95.67	gold quality
trigeminal ganglion	UBERON:0001675	95.40	gold quality
skin of hip	UBERON:0001554	95.27	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.07	gold quality
renal medulla	UBERON:0000362	94.92	gold quality
trachea	UBERON:0003126	94.83	gold quality
calcaneal tendon	UBERON:0003701	94.81	gold quality
colonic epithelium	UBERON:0000397	94.79	gold quality
thoracic mammary gland	UBERON:0005200	94.78	gold quality
mammary gland	UBERON:0001911	94.76	gold quality
saliva-secreting gland	UBERON:0001044	94.71	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	94.62	gold quality
lower lobe of lung	UBERON:0008949	94.53	gold quality
synovial joint	UBERON:0002217	94.45	gold quality
adrenal tissue	UBERON:0018303	94.36	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	58.62
E-MTAB-6678	yes	24.72
E-CURD-119	yes	24.15
E-ANND-3	yes	15.34
E-ANND-2	no	2101.54
E-MTAB-6379	no	88.10

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXP2, TBR1

miRNA regulators (miRDB)

186 targeting AUTS2, 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-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
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-6867-5P	100.00	82.21	3464
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4666A-3P	99.96	71.71	3434

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 38)

• A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 gene is associated with autism. (PMID:20635338)
• SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 x 10(-8) to P = 4 x 10(-9)). (PMID:21471458)
• PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia. (PMID:22578776)
• the role of AUTS2 in normal neurological development and its altered expression may result in a variety of neurobehavioral phenotypes (PMID:22872102)
• This study indicates that there might be a genetic association of AUTS2 with susceptibility to heroin dependence. Reduced gene expression of AUTS2 in lymphoblastoid cell lines may increase the risk for heroin dependence. (PMID:22995765)
• These observations demonstrate a causal role of AUTS2 in neurocognitive disorders. (PMID:23332918)
• our results show that AUTS2 is important for neurodevelopment and expose candidate enhancer sequences in which nucleotide variation could lead to neurological disease and human-specific traits. (PMID:23349641)
• AUTS2 rs6943555 A allele is associated with suicide committed after drinking ethanol shortly before death. (PMID:23437340)
• AUTS2, its discovery, expression, association with autism and other neurological and non-neurological traits, implication in human evolution, function, regulation, and genetic pathways, are reviewed. (PMID:24008202)
• This is one of the smallest de novo intragenic deletions of AUTS2. (PMID:24459036)
• AUTS2 mutations are associated with autism spectrum disorder. (PMID:24859339)
• similarities between the phenotypes of 2 male patients with AUTS2 variants support that AUTS2 syndrome is a single gene disorder. (PMID:25205402)
• polymorphism rs6943555 might elucidate the pathogenesis of schizophrenia and play an important role in its etiology (PMID:25347278)
• AA homozygotes of rs6943555 were significantly over-represented in the patients with heroin dependence. (PMID:25398668)
• the CK2 component of PRC1-AUTS2 neutralizes PRC1 repressive activity, whereas AUTS2-mediated recruitment of P300 leads to gene activation. (PMID:25519132)
• In summary, our results indicate that AUTS2 is a candidate biomarker for defining liver metastasis of pancreatic cancer and directing personalized therapies. (PMID:25962312)
• The AUTS2 gene has been repeatedly implicated in neurodevelopmental disorders including autism, intellectual disability and developmental delay. (PMID:26348319)
• Exonic deletions of AUTS2 is associated with developmental delay and intellectual disability. (PMID:26545289)
• Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory (PMID:26717414)
• Results showed the frequencies of the AUTS2 haplotypes significantly different between them, and the rs6943555 and rs9886351 A-A haplotype was associated with alcohol dependence in a Japanese population. (PMID:26763194)
• AUTS2 syndrome emerges as a specific ID syndrome with microcephaly. (PMID:27075013)
• chromatin complexes PRC1/AUTS2 and PRC2 in a gene network in T-ALL regulating early lymphoid differentiation. (PMID:27322685)
• This clinical report provides the natural history in the eldest patient yet to be reported, and complements the existing evidence suggesting that disruption of the AUTS2 leads to a recently delineated neurodevelopmental phenotype with a wide spectrum, namely “AUTS2 Syndrome.” (PMID:27531620)
• This study demonstrated that Cocaine-Induced Chromatin Modifications Associate With Increased Expression and Three-Dimensional Looping of Auts2. (PMID:28577753)
• BCL7A, BRWD3, and AUTS2 demonstrate significantly higher mutation frequencies among AA cases. These genes are all involved in translocations in B-cell malignancies. Moreover, we detected a significant difference in mutation frequency of TP53 and IRF4 with frequencies higher among CA cases. Our study provides rationale for interrogating diverse tumor cohorts to best understand tumor genomics across populations. (PMID:29166413)
• significant intergenic synergistic effect between rs16879552 (NRG1) and rs7785360 (AUTS2) was identified through cross-validation. (PMID:29377512)
• These co-occurring hits involved known disease-associated genes such as SETD5, AUTS2, and NRXN1, and were enriched for cellular and developmental processes. Accurate genetic diagnosis of complex disorders will require complete evaluation of the genetic background even after a candidate disease-associated variant is identified (PMID:30190612)
• The intragenic exon rearrangements (IERs) involved in SOBP (6q21) exon 2 and 3 and AUTS2 (7q11.22) exon 2-4 were the molecular lesions specific to tumors and were frequently detected in non-Hodgkin B cell lymphoma (B-NHL) samples. These IERs constitute novel genetic alterations of B-NHL, which might be associated with tumorigenesis and be useful as genetic biological markers. (PMID:31686349)
• Effect of AUTS2 gene rs6943555 variant in male patients with schizophrenia in a Turkish population. (PMID:32574757)
• Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies. (PMID:33562463)
• Germ cell mosaicism for AUTS2 exon 6 deletion. (PMID:33577136)
• Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation. (PMID:34573342)
• NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. (PMID:34637754)
• Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene. (PMID:35525889)
• Cerebral organoids containing an AUTS2 missense variant model microcephaly. (PMID:35802027)
• Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulator AUTS2 gene. (PMID:36864756)
• Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies. (PMID:37816306)
• AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/beta-catenin pathway. (PMID:39174599)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	auts2a	ENSDARG00000056427
mus_musculus	Auts2	ENSMUSG00000029673
rattus_norvegicus	Auts2	ENSRNOG00000000885

Paralogs (2): FBRSL1 (ENSG00000112787), FBRS (ENSG00000156860)

Protein

Protein identifiers

Autism susceptibility gene 2 protein — Q8WXX7 (reviewed: Q8WXX7)

All UniProt accessions (18): A0A024RDL5, A0A087WVB5, A0A2R8Y516, A0A2R8Y522, A0A2R8Y568, A0A2R8Y6Q9, A0A2R8Y8C6, A0A2R8YEX6, A0A590UJA2, A0A590UJP3, A0A590UK55, A0A590UKA2, A0A8V8TPM5, Q8WXX7, H7C090, H7C1G5, H7C2P0, Q75MD7

UniProt curated annotations — full annotation on UniProt →

Function. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A ‘Lys-119’, rendering chromatin heritably changed in its expressibility. The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B. As a consequence, the complex mediates transcriptional activation. In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1.

Subunit / interactions. Component of a PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2. Within this complex, interacts directly with PCGF5 and CSNK2B. Interacts with the histone acetyltransferase EP300/p300. Interacts (via Pro-rich region) with PREX1, DOCK1 and ELMO2.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Cell projection. Growth cone.

Tissue specificity. Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and leukocytes.

Disease relevance. Intellectual developmental disorder, autosomal dominant 26 (MRD26) [MIM:615834] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The Pro-rich region is important for the interaction with RAC guanine nucleotide exchange factors and the subsequent activation of RAC1, which then promotes lamellipodia formation.

Similarity. Belongs to the AUTS2 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8WXX7-1	1	yes
Q8WXX7-2	2
Q8WXX7-3	3
Q8WXX7-5	5

RefSeq proteins (3): NP_001120703, NP_001120704, NP_056385* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR023246	AUTS2	Family

Pfam: PF15336

UniProt features (33 total): compositionally biased region 17, region of interest 7, splice variant 4, modified residue 2, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WXX7-F1	41.89	0.00

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 (2): 1198, 1233

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-8939243	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-212436	Generic Transcription Pathway
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8878171	Transcriptional regulation by RUNX1

MSigDB gene sets: 483 (showing top): BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, GOBP_NEURON_PROJECTION_EXTENSION, PEREZ_TP63_TARGETS, GCANCTGNY_MYOD_Q6, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_GROWTH, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEUROGENESIS, CTATGCA_MIR153, BROWNE_HCMV_INFECTION_12HR_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, GOBP_REGULATION_OF_LAMELLIPODIUM_ASSEMBLY, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, AGCGCTT_MIR518F_MIR518E_MIR518A

GO Biological Process (7): neuron migration (GO:0001764), positive regulation of lamellipodium assembly (GO:0010592), actin cytoskeleton organization (GO:0030036), positive regulation of Rac protein signal transduction (GO:0035022), positive regulation of transcription by RNA polymerase II (GO:0045944), axon extension (GO:0048675), dendrite extension (GO:0097484)

GO Molecular Function (2): chromatin binding (GO:0003682), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), cytoskeleton (GO:0005856), growth cone (GO:0030426), cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Transcriptional regulation by RUNX1	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1
Generic Transcription Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
neuron projection extension	2
binding	2
cellular anatomical structure	2
cell migration	1
generation of neurons	1
regulation of lamellipodium assembly	1
lamellipodium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
positive regulation of lamellipodium organization	1
cytoskeleton organization	1
actin filament-based process	1
Rac protein signal transduction	1
regulation of Rac protein signal transduction	1
positive regulation of small GTPase mediated signal transduction	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
axonogenesis	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
site of polarized growth	1
distal axon	1
intracellular anatomical structure	1
cytoskeleton	1

Protein interactions and networks

STRING

1542 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AUTS2	CADPS2	Q86UW7	871
AUTS2	CNTNAP2	Q9UHC6	828
AUTS2	NRG3	P56975	825
AUTS2	PCGF5	Q86SE9	812
AUTS2	DYRK1A	Q13627	788
AUTS2	NRXN1	Q9ULB1	740
AUTS2	PCGF3	Q3KNV8	736
AUTS2	SHANK3	Q9BYB0	728
AUTS2	SHANK2	Q9UPX8	678
AUTS2	CALN1	Q9BXU9	647
AUTS2	NLGN3	Q9NZ94	645
AUTS2	NLGN4X	Q8N0W4	629
AUTS2	YAF2	Q8IY57	626
AUTS2	CHD8	Q9HCK8	619
AUTS2	PCGF1	Q9BSM1	612

IntAct

59 interactions, top by confidence:

A	B	Type	Score
CSNK2A1	CSNK2A2	psi-mi:“MI:0914”(association)	0.920
RNF2	PCGF5	psi-mi:“MI:0914”(association)	0.890
PCGF5	CSNK2A2	psi-mi:“MI:0914”(association)	0.880
RYBP	BMI1	psi-mi:“MI:0914”(association)	0.850
CSNK2A1	EIF3J	psi-mi:“MI:0914”(association)	0.810
AUTS2	PCGF5	psi-mi:“MI:0915”(physical association)	0.790
AUTS2	PCGF5	psi-mi:“MI:0914”(association)	0.790
PCGF5	AUTS2	psi-mi:“MI:0914”(association)	0.790
CSNK2A2	EIF3J	psi-mi:“MI:0914”(association)	0.790
AUTS2	CSNK2B	psi-mi:“MI:0914”(association)	0.760
AUTS2	RNF2	psi-mi:“MI:0915”(physical association)	0.740
RYBP	E2F6	psi-mi:“MI:0914”(association)	0.740
DCAF7	DIAPH1	psi-mi:“MI:0914”(association)	0.730
RING1	CBX4	psi-mi:“MI:0914”(association)	0.730
AUTS2	EP300	psi-mi:“MI:0915”(physical association)	0.680
AUTS2	EP300	psi-mi:“MI:0914”(association)	0.680
CSNK2B	NMT2	psi-mi:“MI:0914”(association)	0.660
RNF2	CBX4	psi-mi:“MI:0914”(association)	0.660
PCGF6	CBX4	psi-mi:“MI:0914”(association)	0.640
YAF2	E2F6	psi-mi:“MI:0914”(association)	0.640

BioGRID (99): AUTS2 (Affinity Capture-MS), AUTS2 (Affinity Capture-MS), AUTS2 (Affinity Capture-MS), PCGF5 (Affinity Capture-MS), RING1 (Affinity Capture-MS), RNF2 (Affinity Capture-MS), RYBP (Affinity Capture-MS), YAF2 (Affinity Capture-MS), CSNK2A1 (Affinity Capture-MS), CSNK2A2 (Affinity Capture-MS), CSNK2B (Affinity Capture-MS), DCAF7 (Affinity Capture-MS), FBRS (Affinity Capture-MS), PCGF3 (Affinity Capture-MS), EP300 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WPF7, A0A0R4IBL7, O09000, O54972, O70305, O75081, O75376, P15806, P15881, P15884, P15923, P21677, P30985, P51514, P98180, Q05AQ8, Q14157, Q14687, Q1LY51, Q2VPM4, Q3U3C9, Q4KKX4, Q4VCS5, Q566L4, Q5F3B1, Q5SFM8, Q5T6F2, Q60722, Q60974, Q61286, Q62655, Q6DIH5, Q7ZWN6, Q7ZXS3, Q80X50, Q86YP4, Q8BZ47, Q8CHY6, Q8IXK0, Q8VHG2

Diamond homologs: A0A087WPF7, Q8R089, Q8WXX7, Q9HAH7, Q9HCM7

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
AUTS2	“down-regulates activity”	“Polycomb repressive complex 1”	binding
AUTS2	up-regulates	Neuron_migration
AUTS2	up-regulates	Neurite_outgrowth
FOXP2	“up-regulates quantity by expression”	AUTS2	“transcriptional regulation”
AUTS2	“up-regulates activity”	PREX1	binding
AUTS2	“up-regulates activity”	ELMO2	binding
AUTS2	“up-regulates activity”	DOCK1	binding
TBR1	“up-regulates quantity by expression”	AUTS2	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 42 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
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	11	94.5×	8e-18
Transcriptional Regulation by E2F6	7	58.6×	2e-09
SUMOylation of transcription cofactors	5	34.7×	1e-05
SUMOylation of RNA binding proteins	5	34.0×	1e-05
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	5	20.9×	9e-05

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	5	50.1×	1e-05
chromatin remodeling	6	10.9×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1416 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	114
Likely pathogenic	48
Uncertain significance	604
Likely benign	359
Benign	146

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1033782	NM_015570.4(AUTS2):c.2T>C (p.Met1Thr)	Pathogenic
1072549	NC_000007.13:g.(?70227856)(70242160_?)del	Pathogenic
1174542	NM_015570.4(AUTS2):c.1A>T (p.Met1Leu)	Pathogenic
1194595	NM_015570.4(AUTS2):c.2392C>T (p.Arg798Ter)	Pathogenic
1307520	NM_015570.4(AUTS2):c.1610A>C (p.His537Pro)	Pathogenic
1310114	NM_015570.4(AUTS2):c.1588_1611del (p.Gln530_His537del)	Pathogenic
1324010	NM_015570.4(AUTS2):c.479_487delinsC (p.Gln160fs)	Pathogenic
1325825	NM_015570.4:c.(690+1_691-1)_(742+1_743-1)del	Pathogenic
133343	NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del	Pathogenic
133344	NC_000007.14:g.(70435782_70698569)_(70766334_70768023)del	Pathogenic
1334416	NM_015570.4(AUTS2):c.1995_1996del (p.Lys666fs)	Pathogenic
1335669	NM_015570.4(AUTS2):c.1904_1907dup (p.Pro638fs)	Pathogenic
144722	GRCh38/hg38 7q11.22(chr7:69865751-70055580)x1	Pathogenic
144764	GRCh38/hg38 7q11.22(chr7:69000832-70244446)x1	Pathogenic
144927	GRCh38/hg38 7q11.22(chr7:69828711-70038445)x1	Pathogenic
144933	GRCh38/hg38 7q11.22(chr7:69588764-69765039)x1	Pathogenic
145611	GRCh38/hg38 7q11.22(chr7:70792749-72444391)x1	Pathogenic
1456517	NC_000007.13:g.(?69092299)(70193818_?)del	Pathogenic
1457603	NM_015570.4(AUTS2):c.2008C>T (p.Gln670Ter)	Pathogenic
148274	GRCh38/hg38 7q11.22(chr7:69665251-70271848)x1	Pathogenic
149086	GRCh38/hg38 7q11.22(chr7:70206515-70493590)x1	Pathogenic
149942	GRCh38/hg38 7q11.22(chr7:70724914-70755760)x1	Pathogenic
1527360	GRCh37/hg19 7q11.22(chr7:69145364-70023881)	Pathogenic
1527361	GRCh37/hg19 7q11.22(chr7:69250058-71604236)	Pathogenic
1527362	GRCh37/hg19 7q11.22(chr7:69325515-69644230)	Pathogenic
1527363	GRCh37/hg19 7q11.22(chr7:69459746-70176827)	Pathogenic
1527364	GRCh37/hg19 7q11.22(chr7:69527664-69647986)	Pathogenic
1527875	NM_015570.4(AUTS2):c.1913del (p.Pro638fs)	Pathogenic
155372	GRCh38/hg38 7q11.22(chr7:70300438-70447453)x1	Pathogenic
1708260	NM_015570.4(AUTS2):c.2218del (p.His740fs)	Pathogenic

SpliceAI

12404 predictions. Top by Δscore:

Variant	Effect	Δscore
7:69599961:AGGTA:A	donor_loss	1.0000
7:69599962:GGT:G	donor_loss	1.0000
7:69599963:GT:G	donor_loss	1.0000
7:69599964:T:G	donor_loss	1.0000
7:69797076:A:AG	acceptor_gain	1.0000
7:69899282:A:AG	acceptor_gain	1.0000
7:69899283:C:G	acceptor_gain	1.0000
7:69899283:CA:C	acceptor_loss	1.0000
7:69899284:A:AG	acceptor_gain	1.0000
7:69899285:G:GA	acceptor_gain	1.0000
7:69899285:GA:G	acceptor_gain	1.0000
7:69899285:GAA:G	acceptor_gain	1.0000
7:69899285:GAAA:G	acceptor_gain	1.0000
7:69899494:GACAG:G	donor_gain	1.0000
7:69899495:ACAGG:A	donor_loss	1.0000
7:69899496:CAGG:C	donor_loss	1.0000
7:69899497:AGGT:A	donor_loss	1.0000
7:69899498:GGTGA:G	donor_loss	1.0000
7:69899499:G:GA	donor_loss	1.0000
7:69899500:T:G	donor_loss	1.0000
7:69899504:G:GT	donor_gain	1.0000
7:70118127:TTTA:T	acceptor_loss	1.0000
7:70118130:A:AG	acceptor_gain	1.0000
7:70118130:A:C	acceptor_loss	1.0000
7:70118131:G:GC	acceptor_gain	1.0000
7:70118131:GCTC:G	acceptor_gain	1.0000
7:70118131:GCTCA:G	acceptor_gain	1.0000
7:70118220:A:T	donor_gain	1.0000
7:70118229:GTGAT:G	donor_gain	1.0000
7:70118231:GAT:G	donor_gain	1.0000

AlphaMissense

8244 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:69599925:T:C	F91S	1.000
7:70766138:T:A	L498Q	1.000
7:70766138:T:C	L498P	1.000
7:70766149:T:C	F502L	1.000
7:70766150:T:C	F502S	1.000
7:70766150:T:G	F502C	1.000
7:70766151:T:A	F502L	1.000
7:70766151:T:G	F502L	1.000
7:70766218:C:G	H525D	1.000
7:70766224:C:G	H527D	1.000
7:70766230:C:G	H529D	1.000
7:70766236:C:G	H531D	1.000
7:70766248:C:G	H535D	1.000
7:70766260:C:G	H539D	1.000
7:70771627:G:A	G605R	1.000
7:70771627:G:C	G605R	1.000
7:70771633:T:C	F607L	1.000
7:70771634:T:C	F607S	1.000
7:70771634:T:G	F607C	1.000
7:70771635:T:A	F607L	1.000
7:70771635:T:G	F607L	1.000
7:70777109:G:A	G647R	1.000
7:70777109:G:C	G647R	1.000
7:70777109:G:T	G647W	1.000
7:70777110:G:A	G647E	1.000
7:70777115:T:A	W649R	1.000
7:70777115:T:C	W649R	1.000
7:70777116:G:C	W649S	1.000
7:70777117:G:C	W649C	1.000
7:70777117:G:T	W649C	1.000

dbSNP variants (sampled 300 via entrez): RS1000005152 (7:70391221 T>C), RS1000005882 (7:70021596 A>G), RS1000006364 (7:70422229 A>G,T), RS1000010270 (7:69886219 A>G), RS1000011510 (7:70065347 A>G), RS1000011913 (7:70384481 C>T), RS1000013335 (7:69614220 A>G), RS1000019026 (7:70727910 T>C), RS1000021958 (7:69689934 C>G,T), RS1000025245 (7:70208774 A>T), RS1000025887 (7:70505149 T>C), RS1000028332 (7:69742028 T>C), RS1000028409 (7:70108520 A>G), RS1000035434 (7:70297669 C>T), RS1000036076 (7:70765645 C>T)

Disease associations

OMIM: gene MIM:607270 | disease phenotypes: MIM:615834, MIM:209850, MIM:608636, MIM:618050, MIM:213000, MIM:217990

GenCC curated gene-disease

Disease	Classification	Inheritance
syndromic intellectual disability	Definitive	Autosomal dominant
autism spectrum disorder due to AUTS2 deficiency	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
syndromic intellectual disability	Definitive	AD

Mondo (12): autism spectrum disorder due to AUTS2 deficiency (MONDO:0014361), intellectual disability (MONDO:0001071), multiple congenital anomalies/dysmorphic syndrome-intellectual disability (MONDO:0015159), breast ductal adenocarcinoma (MONDO:0005590), autism spectrum disorder (MONDO:0005258), syndromic intellectual disability (MONDO:0000508), autism (MONDO:0005260), 15q11q13 microduplication syndrome (MONDO:0012081), intellectual disability, autosomal dominant 57 (MONDO:0054837), isolated cerebellar hypoplasia/agenesis (MONDO:0008939), corpus callosum, agenesis of (MONDO:0009022), microcephaly (MONDO:0001149)

Orphanet (9): Autism spectrum disorder due to AUTS2 deficiency (Orphanet:352490), Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (Orphanet:102283), Rare genetic syndromic intellectual disability (Orphanet:183763), 15q11q13 microduplication syndrome (Orphanet:238446), Isolated cerebellar agenesis (Orphanet:1398), Isolated corpus callosum agenesis (Orphanet:200), Cerebellar hypoplasia-tapetoretinal degeneration syndrome (Orphanet:2246), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

70 total (30 of 70 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000154	Wide mouth
HP:0000160	Narrow mouth
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0000520	Proptosis
HP:0000574	Thick eyebrow
HP:0000582	Upslanted palpebral fissure
HP:0000722	Compulsive behaviors
HP:0000729	Autistic behavior
HP:0000733	Motor stereotypy
HP:0000750	Delayed speech and language development
HP:0000752	Hyperactivity
HP:0000964	Eczematoid dermatitis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001257	Spasticity

GWAS associations

57 associations (top):

Study	Trait	p-value
GCST001029_1	Alcohol consumption	4.000000e-08
GCST001535_3	Immune reponse to smallpox (secreted IL-2)	2.000000e-08
GCST001548_4	Male-pattern baldness	2.000000e-09
GCST001647_5	Bipolar disorder	5.000000e-06
GCST001762_718	Obesity-related traits	4.000000e-07
GCST002337_41	Amyotrophic lateral sclerosis (sporadic)	6.000000e-07
GCST002759_25	Motion sickness	2.000000e-09
GCST002759_4	Motion sickness	5.000000e-22
GCST002783_111	Body mass index	6.000000e-06
GCST003118_1	Response to serotonin reuptake inhibitors in non-psychotic unipolar depression	2.000000e-08
GCST003901_13	Cognitive decline (age-related)	3.000000e-06
GCST003983_6	Male-pattern baldness	2.000000e-26
GCST003991_10	Childhood ear infection	4.000000e-09
GCST003992_20	Photic sneeze reflex	1.000000e-08
GCST003996_22	Monobrow	2.000000e-09
GCST004863_96	Mosquito bite size	3.000000e-06
GCST004904_36	Body mass index	4.000000e-12
GCST004904_57	Body mass index	5.000000e-12
GCST005013_20	Childhood ear infection	4.000000e-09
GCST005116_7	Male-pattern baldness	2.000000e-41
GCST005116_8	Male-pattern baldness	8.000000e-27
GCST005171_49	QT interval	1.000000e-07
GCST005830_129	Hand grip strength	9.000000e-10
GCST005830_77	Hand grip strength	7.000000e-09
GCST006269_716	General cognitive ability	2.000000e-09
GCST006269_810	General cognitive ability	8.000000e-09
GCST006630_10	Diastolic blood pressure	9.000000e-09
GCST006661_171	Male-pattern baldness	5.000000e-11
GCST006661_318	Male-pattern baldness	5.000000e-08
GCST006661_319	Male-pattern baldness	5.000000e-08

EFO canonical traits (27, from GWAS)

EFO ID	Trait name
EFO:0004329	alcohol drinking
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0005108	arm span
EFO:0006928	motion sickness
EFO:0004340	body mass index
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0007904	susceptibility to childhood ear infection measurement
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0007906	synophrys measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0004682	QT interval
EFO:0006941	grip strength measurement
EFO:0004337	intelligence
EFO:0006336	diastolic blood pressure
EFO:0009594	irritability measurement
EFO:0004763	p-tau measurement
EFO:0008579	risk-taking behaviour
EFO:0008328	chronotype measurement
EFO:0006781	coffee consumption measurement
EFO:0007778	urinary albumin to creatinine ratio
EFO:0005670	smoking initiation
EFO:0600027	hemoglobin change measurement
EFO:0004980	appendicular lean mass
EFO:0004587	lymphocyte count
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D061085	Agenesis of Corpus Callosum	C10.500.034; C16.131.666.034; C23.300.008
D001321	Autistic Disorder	F03.625.164.113.500
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
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
C562568	Cerebellar Hypoplasia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression, increases methylation	5
Tobacco Smoke Pollution	decreases expression, increases methylation	3
methylmercuric chloride	increases expression	2
bisphenol A	affects methylation, affects cotreatment, increases methylation, decreases expression	2
sodium arsenite	affects methylation, decreases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	increases expression, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
trichostatin A	decreases expression	1
butyraldehyde	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
tobacco tar	decreases expression	1
benzo(e)pyrene	affects methylation	1
nickel sulfate	increases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
candoxin	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_C9JK	SDQLCHi060-A	Induced pluripotent stem cell	Male
CVCL_D4ZV	SDQLCHi072-A	Induced pluripotent stem cell	Male
CVCL_XI75	SDQLCHi008-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

198 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)
NCT01238250	Not specified	RECRUITING	Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
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