YY1

Summary

YY1 (YY1 transcription factor, HGNC:12856) is a protein-coding gene on chromosome 14q32.2, encoding Transcriptional repressor protein YY1 (P25490). Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site. It is a selective cancer dependency (DepMap: 83.0% of cell lines).

YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1.

Source: NCBI Gene 7528 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 148 total — 19 pathogenic, 23 likely-pathogenic
• Phenotypes (HPO): 121
• Cancer dependency (DepMap): dependent in 83.0% of screened cell lines
• Transcription factor: yes — 298 downstream targets (CollecTRI)
• MANE Select transcript: NM_003403

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12856
Approved symbol	YY1
Name	YY1 transcription factor
Location	14q32.2
Locus type	gene with protein product
Status	Approved
Aliases	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S
Ensembl gene	ENSG00000100811
Ensembl biotype	protein_coding
OMIM	600013
Entrez	7528

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000262238, ENST00000553625, ENST00000554371, ENST00000554579, ENST00000554804, ENST00000623799, ENST00000651219, ENST00000704024, ENST00000704485

RefSeq mRNA: 1 — MANE Select: NM_003403 NM_003403

CCDS: CCDS9957

Canonical transcript exons

ENST00000262238 — 5 exons

Exon	Start	End
ENSE00000660347	100262304	100262466
ENSE00000941427	100274698	100274758
ENSE00000941428	100276490	100276648
ENSE00001188710	100277418	100282788
ENSE00001300652	100239144	100239923

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 97.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.2652 / max 533.4766, expressed in 1819 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141452	28.8226	1813
141449	13.8805	1782
141450	7.5445	1701
141451	4.8711	1686
141453	1.1465	748

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	97.19	gold quality
ganglionic eminence	UBERON:0004023	96.62	gold quality
cortical plate	UBERON:0005343	96.30	gold quality
endothelial cell	CL:0000115	95.99	gold quality
middle temporal gyrus	UBERON:0002771	95.90	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.48	gold quality
rectum	UBERON:0001052	95.14	gold quality
adrenal tissue	UBERON:0018303	95.04	gold quality
monocyte	CL:0000576	95.01	gold quality
leukocyte	CL:0000738	94.81	gold quality
mononuclear cell	CL:0000842	94.80	gold quality
tonsil	UBERON:0002372	94.69	gold quality
sural nerve	UBERON:0015488	94.51	gold quality
upper leg skin	UBERON:0004262	94.35	gold quality
islet of Langerhans	UBERON:0000006	94.14	gold quality
skin of hip	UBERON:0001554	94.09	gold quality
stromal cell of endometrium	CL:0002255	93.78	gold quality
postcentral gyrus	UBERON:0002581	93.66	gold quality
parietal pleura	UBERON:0002400	93.63	gold quality
entorhinal cortex	UBERON:0002728	93.63	gold quality
amniotic fluid	UBERON:0000173	93.50	gold quality
visceral pleura	UBERON:0002401	93.45	gold quality
parotid gland	UBERON:0001831	93.40	gold quality
lymph node	UBERON:0000029	93.39	gold quality
lateral globus pallidus	UBERON:0002476	93.35	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.34	gold quality
parietal lobe	UBERON:0001872	93.33	gold quality
colonic epithelium	UBERON:0000397	93.25	gold quality
gall bladder	UBERON:0002110	93.20	gold quality
left lobe of thyroid gland	UBERON:0001120	93.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7249	no	4275.41
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

298 targets.

Target	Regulation
ACP5
ACR	Unknown
ACTA1
ACTA2	Unknown
ACTC1	Repression
ACTR5	Unknown
ADA	Unknown
ADAM2
ADORA2A	Unknown
ALG12
AMELX	Repression
AMELY	Repression
APBB1	Unknown
APC	Repression
APH1A	Activation
AR	Unknown
ASNS	Activation
ATP13A1	Repression
ATP2C1	Activation
ATP5F1A	Unknown
ATP6V1A	Activation
ATXN10	Unknown
BACE1	Unknown
BCL2L11	Activation
BDKRB1	Unknown
BGLAP	Repression
BIRC5	Unknown
BRCA1	Unknown
CACNA1C	Activation
CALR	Activation

JASPAR motifs

Motif	Name	Family
MA0095.1	YY1	More than 3 adjacent zinc fingers
MA0095.2	YY1	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:7816599, PMID:18950698

Upstream regulators (CollecTRI, top): AHR, AP1, AR, DHX36, E2F1, EP300, ESRRG, FOXC1, GATA4, HDAC5, KAT2B, NFKB1, NFKB, PRDM1, RELA, SP1, SP3, SP4, TBX21, TP53, YY1

miRNA regulators (miRDB)

182 targeting YY1, 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-340-5P	100.00	72.50	4437
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 83.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• Counterregulation of chromatin deacetylation and histone deacetylase occupancy at the integrated promoter of human immunodeficiency virus type 1 (HIV-1) by the HIV-1 repressor YY1 and HIV-1 activator Tat. (PMID:11940654)
• Some AML patients showed significantly elevated YY1 transcript levels in bone marrow cells, which together with data presented on mice suggests involvement of abnormal YY1 expression in pathogenesis of human AML (PMID:12393438)
• interaction with E2F provides mechanism for specificity of E2F function (PMID:12411495)
• discovery as regulatory determinant of DEK expression and consistency with the well-documented roles of this factor in cellular proliferation and transformation (PMID:12483538)
• This transcription factor down-regulates expression of CCR5, a major coreceptor for HIV-1. (PMID:12571248)
• YY1-regulated transcription is very likely connected to the pathway of glucose metabolism that culminates in the O-GlcNAcylation on YY1, changing its function in transcription (PMID:12588874)
• YY1 is a negative regulator of alpha-myosin heavy chain gene expression in human heart failure. (PMID:12754214)
• The interaction domains between YY1 and SAP30 were mapped to the C-terminal segment of YY1 (295-414) and the C-terminal 91 amino acid region of SAP30. (PMID:12788099)
• individuals bearing haplotypic variants of the MCP-4 core promoter that avidly bind the transcription factor YY-1 had higher plasma levels of MCP-4 than did individuals with variants with lower binding avidity (PMID:12805085)
• YY1 represses Smad transcriptional activities in a gene-specific manner and thus regulates cell differentiation induced by TGF-beta superfamily pathways (PMID:12808092)
• The ankyrin domain of Notch1 receptor (N1IC) and zinc finger domains of YY1 were essential for the association of N1IC and YY1, which were both present in a large complex of the nucleus to suppress activity transactivated by Notch signaling (PMID:12913000)
• the YY1 factor is translocted to the cytoplasm of vaccinia virus infected macrophages (PMID:15084399)
• transcription factors GATA4 and YY1 are involved in the regulation of FcgammaRIIb expression, and that the expression variants of FcgammaRIIb lead to altered cell signaling, which may contribute to autoimmune pathogenesis in humans. (PMID:15153544)
• YY1 is a negative regulator of p53. (PMID:15210108)
• results designate YY1 as the factor responsible for the intron 1-mediated boost of the HSD3B2 gene basal promoter activity (PMID:15291746)
• YY1 regulates the transcriptional activity, acetylation, ubiquitination, and stability of p53 by inhibiting its interaction with the coactivator p300 and by enhancing its interaction with the negative regulator Mdm2. (PMID:15295102)
• YY1 plays an important role in epidermal differentiation by negatively regulating the human involucrin gene promoter. (PMID:15586248)
• Overexpression of YY1 in lung carcinoma cell line cells can increase HLJ1 expression and reduce cell invasive capability (PMID:15782117)
• CHK down-regulates CXCR4 through the YY1 transcription factor, leading to decreased CXCR4-mediated breast cancer cell motility and migration. (PMID:15805285)
• YY1 is involved in a positive feedback loop during apoptosis. (PMID:15831475)
• YY1 cooperates with AP-2 to stimulate ERBB2 promoter activity through the AP-2 binding sites (PMID:15870067)
• YY1 may play a role in prostate cancer development; however, decreased YY1 may give metastatic cells a survival advantage (PMID:15942652)
• Sp1 and YY1 transactivate human ATP2C1 promoter via cis-enhancing elements and that incomplete upregulation of ATP2C1 transcription contributes to keratinocyte-specific pathogenesis of Hailey-Hailey disease. (PMID:15955096)
• Altogether, these findings reveal that NO inhibits YY1 DNA-binding activity through S-nitrosation and consequently results in upregulation of Fas expression and tumor cell sensitization to Fas-induced apoptosis. (PMID:16143308)
• HCV core can recruit B23 and p300 to relieve the repression effect of YY1 on B23 promoter activity (PMID:16170350)
• the novel factor YY2 antagonizes the negative actions exerted by YY1 (PMID:16260628)
• Actin polymerization controls subcellular YY1 localization, which contributes to vascular smooth muscle proliferation and differentiation in normal pulmonary artery development. (PMID:16314465)
• YY1 accelerates the binding of SNAP(c) to the proximal sequence element, its target within snRNA promoters. (PMID:16769183)
• Depletion of E2F1 prevented prohibitin from repressing the YY1 promoter. (PMID:16918502)
• We discuss here the capacity of YY1 to either repress (through histone deacetylase recruitment) or activate (through CBP recruitment) IFN-beta gene expression according to the occupancy of either only its -90 site or both its -122 and -90 sites. (PMID:16954376)
• YY1 represses homeo box A11-dependent transcription via interactions with the homeo box proteins and Histone Deacetylase recruitment (PMID:16963455)
• Schizophrenia-associated SNP in the Syt11 5’UTR region, where the potent transcription factor YY1 can bind, affects the transcriptional activity of Syt11. (PMID:17192956)
• Results report that Yin Yang 1 protein can be sumoylated both in vivo and in vitro by PIASy, a SUMO E3 ligase. (PMID:17353273)
• Transcription factor Ying Yang 1 (YY1) indirectly regulates the C promoter-binding factor 1 (CBF1)-dependent Notch1 signaling via direct interaction with the Notch1 receptor. (PMID:17434929)
• Our findings provide for the first time evidence for the implication of YY1 in uterine cervix carcinogenesis. (PMID:17549406)
• a new role for YY1 as both an inducer of p53 instability in smooth muscle cells, and an indirect repressor of p21WAF1/Cip1 transcription, p21WAF1/Cip1-cdk4-cyclin D1 assembly and intimal thickening. (PMID:17556661)
• Binding of YY1 to its DNA sites in target genes requires INO80, suggesting that YY1 uses the INO80 complex not only to activate transcription but also to gain access to target promoters (PMID:17721549)
• the transcription factor YY1 binds to and recruits HDAC3 to the lanosterol synthase promoter. (PMID:17925399)
• These results suggest that YY1 might be a negative regulator of PPARdelta gene expression through its direct interaction with the PPARdelta promoter. (PMID:17973082)
• study identified the major CD30 gene promoter microsatellite binding activity as the transcription factor Yin Yang 1 (PMID:17973241)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	yy1a	ENSDARG00000042796
mus_musculus	Yy1	ENSMUSG00000021264
rattus_norvegicus	Yy1	ENSRNOG00000004339
drosophila_melanogaster	pho	FBGN0002521

Paralogs (2): ZFP42 (ENSG00000179059), YY2 (ENSG00000230797)

Protein

Protein identifiers

Transcriptional repressor protein YY1 — P25490 (reviewed: P25490)

Alternative names: Delta transcription factor, INO80 complex subunit S, NF-E1, Yin and yang 1

All UniProt accessions (6): P25490, A0A494C032, A0A994J726, G3V3M8, H0YJU4, H0YJV7

UniProt curated annotations — full annotation on UniProt →

Function. Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site. Binds to the consensus sequence 5’-CCGCCATNTT-3’; some genes have been shown to contain a longer binding motif allowing enhanced binding; the initial CG dinucleotide can be methylated greatly reducing the binding affinity. The effect on transcription regulation is depending upon the context in which it binds and diverse mechanisms of action include direct activation or repression, indirect activation or repression via cofactor recruitment, or activation or repression by disruption of binding sites or conformational DNA changes. Its activity is regulated by transcription factors and cytoplasmic proteins that have been shown to abrogate or completely inhibit YY1-mediated activation or repression. For example, it acts as a repressor in absence of adenovirus E1A protein but as an activator in its presence. Acts synergistically with the SMAD1 and SMAD4 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5’-GTCT/AGAC-3’) within BMP response element (BMPRE) of cardiac activating regions. May play an important role in development and differentiation. Proposed to recruit the PRC2/EED-EZH2 complex to target genes that are transcriptional repressed. Involved in DNA repair. In vitro, binds to DNA recombination intermediate structures (Holliday junctions). Plays a role in regulating enhancer activation. Recruits the PR-DUB complex to specific gene-regulatory regions. Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair; proposed to target the INO80 complex to YY1-responsive elements.

Subunit / interactions. Interacts with YAF2 through the region encompassing the first and second zinc fingers. Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the DBINO domain of INO80. Interacts with EED and EZH2; the interactions are indicative for an association with the PRC2/EED-EZH2 complex. Interacts with SFMBT2. Found in a complex with SMAD1 and SMAD4. Found in a complex with YY1, SIN3A and HDAC1. Accessory component of the polycomb repressive deubiquitinase (PR-DUB) complex, at least composed of BAP1, one of ASXL1, ASXL2 or (probably) ASXL3 and one of MBD5 or MBD6; the PR-DUB core associates with a number of accessory proteins, including FOXK1, FOXK2, KDM1B, HCFC1, YY1 and OGT. Interacts (via Gly-rich region) with HCFC1; the interaction is direct. Interacts (via C-terminal zinc-finger domains) with BAP1 (via ULD domain); the interaction is direct and requires HCFC1.

Subcellular location. Nucleus matrix.

Post-translational modifications. Phosphorylation at Ser-118 by CK2 prevents proteolytic cleavage by caspase-7 (CASP7) during apoptosis. Proteolytically cleaved by caspase-7 (CASP7) in response to apoptosis. Phosphorylation at Ser-118 protects against proteolytic cleavage. Transiently poly-ADP-ribosylated by PARP1 upon DNA damage, with the effect of decreasing affinity of YY1 to its cognate DNA binding sites. Ubiquitinated.

Disease relevance. Gabriele-de Vries syndrome (GADEVS) [MIM:617557] An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. Most patients have behavioral and feeding problems, movement abnormalities, mild distal skeletal anomalies, and dysmorphic facial features. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the YY transcription factor family.

RefSeq proteins (1): NP_003394* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR017114	YY1-like	Family
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096

UniProt features (74 total): binding site 16, sequence variant 9, region of interest 8, cross-link 8, compositionally biased region 6, helix 6, strand 5, zinc finger region 4, modified residue 4, turn 3, sequence conflict 2, chain 1, site 1, mutagenesis site 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
1UBD	X-RAY DIFFRACTION	2.5
4C5I	X-RAY DIFFRACTION	2.59
1ZNM	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P25490-F1	51.52	0.13

Functional residue map

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

Catalytic / active sites (1): 119–120 (cleavage; by caspase-7)

Ligand- & substrate-binding residues (16): 298; 303; 316; 320; 327; 330; 343; 347; 355; 360; 373; 377 …

Post-translational modifications (12): 118, 187, 247, 378, 182, 183, 208, 230, 286, 288, 409, 411

Mutagenesis-validated functional residues (1):

Position	Phenotype
118	abolished phosphorylation by ck2, leading to increased cleavage by caspase-7 (casp7).

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-5689603	UCH proteinases
R-HSA-5696394	DNA Damage Recognition in GG-NER
R-HSA-8866910	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
R-HSA-9018519	Estrogen-dependent gene expression
R-HSA-9976102	Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)

MSigDB gene sets: 660 (showing top): PID_HDAC_CLASSI_PATHWAY, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_CHROMOSOME_ORGANIZATION, GOBP_RESPONSE_TO_UV_C, GOBP_MUSCLE_TISSUE_DEVELOPMENT, FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, MORF_MBD4, GOBP_NEGATIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_CELLULAR_RESPONSE_TO_UV, GGGNRMNNYCAT_UNKNOWN, GOBP_RESPONSE_TO_PEPTIDE, GOBP_B_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS

GO Biological Process (38): negative regulation of transcription by RNA polymerase II (GO:0000122), telomere maintenance (GO:0000723), double-strand break repair via homologous recombination (GO:0000724), regulation of DNA replication (GO:0006275), regulation of DNA repair (GO:0006282), chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), RNA localization (GO:0006403), DNA damage response (GO:0006974), spermatogenesis (GO:0007283), anterior/posterior pattern specification (GO:0009952), response to UV-C (GO:0010225), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), B cell differentiation (GO:0030183), negative regulation of interferon-beta production (GO:0032688), regulation of chromosome organization (GO:0033044), cellular response to UV (GO:0034644), response to prostaglandin F (GO:0034696), positive regulation of DNA repair (GO:0045739), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of embryonic development (GO:0045995), camera-type eye morphogenesis (GO:0048593), regulation of cell cycle (GO:0051726), regulation of DNA strand elongation (GO:0060382), negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052), cellular response to interleukin-1 (GO:0071347), immunoglobulin heavy chain V-D-J recombination (GO:0071707), negative regulation of miRNA transcription (GO:1902894), positive regulation of telomere maintenance in response to DNA damage (GO:1904507), DNA repair (GO:0006281), DNA recombination (GO:0006310), regulation of DNA-templated transcription (GO:0006355), gene expression (GO:0010467), hemopoiesis (GO:0030097), cell differentiation (GO:0030154), chromosome organization (GO:0051276)

GO Molecular Function (19): four-way junction DNA binding (GO:0000400), transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), cis-regulatory region sequence-specific DNA binding (GO:0000987), DNA-binding transcription repressor activity (GO:0001217), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), chromatin binding (GO:0003682), RNA binding (GO:0003723), zinc ion binding (GO:0008270), SMAD binding (GO:0046332), DNA-binding transcription factor binding (GO:0140297), sequence-specific double-stranded DNA binding (GO:1990837), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (8): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), chromatin silencing complex (GO:0005677), nuclear matrix (GO:0016363), Ino80 complex (GO:0031011), PcG protein complex (GO:0031519)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Activation of HOX genes during differentiation	1
Deubiquitination	1
Global Genome Nucleotide Excision Repair (GG-NER)	1
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors	1
ESR-mediated signaling	1
Differentiation of T cells	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
transcription cis-regulatory region binding	3
cellular anatomical structure	3
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
negative regulation of DNA-templated transcription	2
regulation of DNA metabolic process	2
DNA repair	2
regulation of DNA-templated transcription	2
response to UV	2
gene expression	2
regulation of gene expression	2
DNA-binding transcription factor activity	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
nucleic acid binding	2
binding	2
nuclear lumen	2
nuclear protein-containing complex	2
DNA metabolic process	1
telomere organization	1
recombinational repair	1
double-strand break repair	1
DNA replication	1
regulation of cellular response to stress	1
chromatin organization	1
macromolecule localization	1
cellular response to stress	1
developmental process involved in reproduction	1
male gamete generation	1
regionalization	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule biosynthetic process	1
lymphocyte differentiation	1
B cell activation	1
negative regulation of type I interferon production	1
interferon-beta production	1
regulation of interferon-beta production	1
regulation of organelle organization	1
chromosome organization	1
cellular response to light stimulus	1

Protein interactions and networks

STRING

3914 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
YY1	RYBP	Q8N488	997
YY1	PPARGC1A	Q9UBK2	995
YY1	EZH2	Q15910	994
YY1	HDAC1	Q13547	993
YY1	HDAC2	Q92769	990
YY1	CTCF	P49711	985
YY1	SUZ12	Q15022	983
YY1	EP300	Q09472	973
YY1	YAF2	Q8IY57	971
YY1	NUCLEOLIN	P19338	968
YY1	RING1	Q06587	962
YY1	MYC	P01106	943
YY1	POU5F1	P31359	908
YY1	SIRT1	Q96EB6	897
YY1	BMI1	P35226	885

IntAct

317 interactions, top by confidence:

A	B	Type	Score
INO80E	YY1	psi-mi:“MI:0914”(association)	0.900
YY1	TFPT	psi-mi:“MI:0914”(association)	0.740
YY1	GRN	psi-mi:“MI:0915”(physical association)	0.670
YY1	LHX4	psi-mi:“MI:0915”(physical association)	0.660
RUVBL2	POLR3A	psi-mi:“MI:0914”(association)	0.640
RUVBL1	POLR3A	psi-mi:“MI:0914”(association)	0.640
YY1AP1	YY1	psi-mi:“MI:0403”(colocalization)	0.630
YY1AP1	YY1	psi-mi:“MI:0914”(association)	0.630
YY1	YY1AP1	psi-mi:“MI:0915”(physical association)	0.630
YY1	YY1AP1	psi-mi:“MI:0403”(colocalization)	0.630
ARRB1	YY1	psi-mi:“MI:0915”(physical association)	0.600
YY1	ARRB1	psi-mi:“MI:0403”(colocalization)	0.600
YAF2	YY1	psi-mi:“MI:0915”(physical association)	0.590
YY1	YAF2	psi-mi:“MI:0407”(direct interaction)	0.590
YY1	YAF2	psi-mi:“MI:0915”(physical association)	0.590
YY1	YY1AP1	psi-mi:“MI:0915”(physical association)	0.580
YY1	YY2	psi-mi:“MI:0914”(association)	0.570
YY1	ZNF85	psi-mi:“MI:0915”(physical association)	0.560
YY1	ALOXE3	psi-mi:“MI:0915”(physical association)	0.560
YY1	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.560
YY1	KRTAP12-3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (755): YY1 (Affinity Capture-MS), YY1 (Affinity Capture-MS), YY1 (Affinity Capture-MS), YY1 (Reconstituted Complex), YY1 (Reconstituted Complex), YY1 (Affinity Capture-MS), YY1 (Affinity Capture-MS), YY1 (Affinity Capture-MS), YY1 (Affinity Capture-MS), YY1 (Proximity Label-MS), YY1 (Affinity Capture-MS), YY1 (Affinity Capture-MS), YY1 (Affinity Capture-MS), YY1 (Affinity Capture-MS), YY1 (Affinity Capture-MS)

ESM2 similar proteins: A6QQW0, B4F7E9, O15391, O43167, O62836, O70230, O70494, P08048, P15337, P17010, P17012, P18846, P20385, P25490, P27699, P36508, P52747, P79145, P81069, P81269, Q00420, Q00899, Q01147, Q01611, Q02447, Q03060, Q03061, Q06547, Q08DA8, Q0V8G2, Q1LYE3, Q1LZH5, Q1RMI3, Q4V8R6, Q52KB5, Q52V16, Q58DZ6, Q5XIU2, Q66K89, Q6B4Z5

Diamond homologs: A0A5K4F1D0, A0JC51, A4FV57, O57311, O60315, O60481, O73689, O95409, P08151, P10070, P10071, P19538, P25490, P34708, P36197, P39768, P46684, P47806, P55878, P55879, Q00899, Q0VGT2, Q15915, Q17308, Q5IS56, Q60542, Q61467, Q61602, Q62520, Q62521, Q62947, Q64318, Q6DJQ6, Q6GR30, Q6XP49, Q6ZN18, Q7JNM3, Q7K0S9, Q7SXV2, Q7TQ40

SIGNOR signaling

35 interactions.

A	Effect	B	Mechanism
AURKB	up-regulates	YY1	phosphorylation
CSNK2A1	up-regulates	YY1	phosphorylation
PLK1	up-regulates	YY1	phosphorylation
YY1	“down-regulates activity”	NOTCH1	binding
YY1	“down-regulates quantity by repression”	HOXB13	“transcriptional regulation”
YY1	“up-regulates quantity by expression”	FCER1A	“transcriptional regulation”
YY1	“down-regulates activity”	NOTCH	binding
YY1	“up-regulates quantity by expression”	SURF1	“transcriptional regulation”
YY1	“up-regulates quantity by expression”	ATP2C1	“transcriptional regulation”
YY1	“up-regulates quantity by expression”	COX7C	“transcriptional regulation”
YY1	“up-regulates quantity by expression”	GDAP1	“transcriptional regulation”
YY1	“up-regulates quantity by expression”	HSD3B2	“transcriptional regulation”
YY1	“up-regulates quantity by expression”	HSPA5	“transcriptional regulation”
YY1	“down-regulates quantity by repression”	POSTN	“transcriptional regulation”
YY1	“up-regulates quantity by expression”	ATP6V1A	“transcriptional regulation”
FKBP5	“up-regulates activity”	YY1
YY1	“down-regulates quantity by repression”	TNFRSF10B	“transcriptional regulation”
YY1	“form complex”	“INO80 complex”	binding
LYN	“down-regulates activity”	YY1	phosphorylation
SRC	“down-regulates activity”	YY1	phosphorylation
YES1	“down-regulates activity”	YY1	phosphorylation
SMURF2	“down-regulates quantity by destabilization”	YY1	ubiquitination
SUZ12/EZH2	“up-regulates activity”	YY1	binding
YY1	“form complex”	SUZ12/EZH2/YY1	binding
YY1	“down-regulates quantity by repression”	ACTC1	“transcriptional regulation”
YY1	“down-regulates quantity by repression”	MYC	“transcriptional regulation”
MYC	“down-regulates activity”	YY1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 119 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
DNA Damage Recognition in GG-NER	5	17.0×	3e-04
RNA Polymerase III Abortive And Retractive Initiation	5	16.6×	3e-04
Nonhomologous End-Joining (NHEJ)	7	14.0×	4e-05
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	8	13.9×	2e-05
Packaging Of Telomere Ends	5	13.1×	7e-04
SUMO E3 ligases SUMOylate target proteins	6	12.8×	2e-04
Recognition and association of DNA glycosylase with site containing an affected purine	5	12.1×	8e-04
Cleavage of the damaged purine	5	12.1×	8e-04

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of telomere maintenance in response to DNA damage	6	71.0×	1e-07
regulation of DNA strand elongation	6	66.5×	1e-07
regulation of chromosome organization	6	59.1×	2e-07
regulation of DNA replication	7	27.0×	1e-06
positive regulation of DNA repair	7	26.4×	1e-06
DNA recombination	7	24.8×	2e-06
regulation of embryonic development	6	20.9×	4e-05
telomere maintenance	7	19.7×	7e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	19
Likely pathogenic	23
Uncertain significance	71
Likely benign	21
Benign	2

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1162319	NM_003403.5(YY1):c.690del (p.Asp231fs)	Pathogenic
1186721	NM_003403.5(YY1):c.1111C>T (p.Arg371Cys)	Pathogenic
1679536	NM_003403.5(YY1):c.1062+1G>A	Pathogenic
1703497	NM_003403.5(YY1):c.1114A>C (p.Thr372Pro)	Pathogenic
2444518	NM_003403.5(YY1):c.458_476del (p.Val153fs)	Pathogenic
3236170	NM_003403.5(YY1):c.1147_1151dup (p.Cys385fs)	Pathogenic
3254940	NM_003403.5(YY1):c.980G>A (p.Cys327Tyr)	Pathogenic
3340625	NM_003403.5(YY1):c.1123C>T (p.Arg375Ter)	Pathogenic
3342304	NM_003403.5(YY1):c.943A>G (p.Lys315Glu)	Pathogenic
3911771	NM_003403.5(YY1):c.1124G>T (p.Arg375Leu)	Pathogenic
4072038	NM_003403.5(YY1):c.1024C>T (p.Arg342Ter)	Pathogenic
4082061	NM_003403.5(YY1):c.910_917dup (p.Met306fs)	Pathogenic
430617	NM_003403.5(YY1):c.1138G>T (p.Asp380Tyr)	Pathogenic
430618	NM_003403.5(YY1):c.1097T>C (p.Leu366Pro)	Pathogenic
430619	NM_003403.5(YY1):c.1096C>G (p.Leu366Val)	Pathogenic
430620	NM_003403.5(YY1):c.1030C>T (p.Gln344Ter)	Pathogenic
432981	NM_003403.5(YY1):c.860_864del (p.Ile287fs)	Pathogenic
817604	NM_003403.5(YY1):c.385del (p.Asp129fs)	Pathogenic
985223	NM_003403.5(YY1):c.468_483del (p.Gly157fs)	Pathogenic
1184871	NM_003403.5(YY1):c.1220A>G (p.His407Arg)	Likely pathogenic
1329515	NM_003403.5(YY1):c.985G>C (p.Glu329Gln)	Likely pathogenic
1679404	NM_003403.5(YY1):c.1121T>G (p.Val374Gly)	Likely pathogenic
1701903	NM_003403.5(YY1):c.1150G>A (p.Val384Met)	Likely pathogenic
1708247	NM_003403.5(YY1):c.1036G>T (p.Val346Phe)	Likely pathogenic
1710183	NM_003403.5(YY1):c.1062G>A (p.Gln354=)	Likely pathogenic
1809912	NM_003403.5(YY1):c.1165G>A (p.Gly389Ser)	Likely pathogenic
2413123	NM_003403.5(YY1):c.1057T>C (p.Phe353Leu)	Likely pathogenic
2441948	NM_003403.5(YY1):c.1112G>A (p.Arg371His)	Likely pathogenic
2582783	NM_003403.5(YY1):c.1102T>C (p.Phe368Leu)	Likely pathogenic
2627588	NM_003403.5(YY1):c.1192A>G (p.Thr398Ala)	Likely pathogenic

SpliceAI

921 predictions. Top by Δscore:

Variant	Effect	Δscore
14:100262296:T:TA	acceptor_gain	1.0000
14:100262299:TTCA:T	acceptor_loss	1.0000
14:100262301:CAGAT:C	acceptor_loss	1.0000
14:100262302:A:AG	acceptor_gain	1.0000
14:100262302:A:G	acceptor_loss	1.0000
14:100262302:AGAT:A	acceptor_gain	1.0000
14:100262303:G:GG	acceptor_gain	1.0000
14:100262303:GA:G	acceptor_gain	1.0000
14:100262303:GAT:G	acceptor_gain	1.0000
14:100262303:GATG:G	acceptor_gain	1.0000
14:100262303:GATGA:G	acceptor_gain	1.0000
14:100262462:GCTAG:G	donor_gain	1.0000
14:100262463:CTAG:C	donor_gain	1.0000
14:100262464:TAG:T	donor_gain	1.0000
14:100262465:AG:A	donor_gain	1.0000
14:100262465:AGG:A	donor_loss	1.0000
14:100262466:GG:G	donor_gain	1.0000
14:100262467:G:GG	donor_gain	1.0000
14:100262467:GTAA:G	donor_loss	1.0000
14:100274691:T:A	acceptor_gain	1.0000
14:100274695:A:AG	acceptor_gain	1.0000
14:100274696:A:G	acceptor_gain	1.0000
14:100274759:G:GG	donor_gain	1.0000
14:100276487:AAG:A	acceptor_gain	1.0000
14:100276488:A:G	acceptor_gain	1.0000
14:100276489:G:A	acceptor_gain	1.0000
14:100276644:TTCAG:T	donor_loss	1.0000
14:100276645:TCAG:T	donor_loss	1.0000
14:100276646:CAG:C	donor_loss	1.0000
14:100276647:AG:A	donor_loss	1.0000

AlphaMissense

2735 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:100239906:T:A	V221D	1.000
14:100262460:T:C	F279S	1.000
14:100274747:T:A	C298S	1.000
14:100274747:T:C	C298R	1.000
14:100274748:G:A	C298Y	1.000
14:100274748:G:C	C298S	1.000
14:100274749:C:G	C298W	1.000
14:100276493:T:A	C303S	1.000
14:100276493:T:C	C303R	1.000
14:100276494:G:A	C303Y	1.000
14:100276494:G:C	C303S	1.000
14:100276495:C:G	C303W	1.000
14:100276505:T:C	F307L	1.000
14:100276506:T:C	F307S	1.000
14:100276507:C:A	F307L	1.000
14:100276507:C:G	F307L	1.000
14:100276534:T:A	H316Q	1.000
14:100276534:T:G	H316Q	1.000
14:100276565:T:A	C327S	1.000
14:100276565:T:C	C327R	1.000
14:100276566:G:A	C327Y	1.000
14:100276566:G:C	C327S	1.000
14:100276567:T:G	C327W	1.000
14:100276574:T:A	C330S	1.000
14:100276574:T:C	C330R	1.000
14:100276575:G:A	C330Y	1.000
14:100276575:G:C	C330S	1.000
14:100276576:T:G	C330W	1.000
14:100276586:T:C	F334L	1.000
14:100276587:T:C	F334S	1.000

dbSNP variants (sampled 300 via entrez): RS1000080754 (14:100261728 G>A,C), RS1000083661 (14:100258062 G>A,T), RS1000160459 (14:100282162 C>T), RS1000310572 (14:100267347 T>G), RS1000326664 (14:100275478 T>A), RS1000368507 (14:100269577 C>T), RS1000374501 (14:100263969 C>G), RS1000374958 (14:100251061 T>G), RS1000430327 (14:100250735 G>A), RS1000481555 (14:100269290 T>G), RS1000499374 (14:100240513 G>C), RS1000500234 (14:100281218 T>C), RS1000595418 (14:100256827 A>T), RS1000610568 (14:100274261 G>A), RS1000616145 (14:100272026 TG>T)

Disease associations

OMIM: gene MIM:600013 | disease phenotypes: MIM:617557, MIM:618557

GenCC curated gene-disease

Disease	Classification	Inheritance
Gabriele de Vries syndrome	Definitive	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 (4): Gabriele de Vries syndrome (MONDO:0044738), intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092), developmental and epileptic encephalopathy, 78 (MONDO:0032812)

Orphanet (2): Gabriele-de Vries syndrome (Orphanet:506358), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

121 total (30 of 121 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000028	Cryptorchidism
HP:0000074	Ureteropelvic junction obstruction
HP:0000126	Hydronephrosis
HP:0000164	Abnormality of the dentition
HP:0000179	Thick lower lip vermilion
HP:0000201	Pierre-Robin sequence
HP:0000218	High palate
HP:0000268	Dolichocephaly
HP:0000272	Malar flattening
HP:0000297	Facial hypotonia
HP:0000307	Pointed chin
HP:0000324	Facial asymmetry
HP:0000337	Broad forehead
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000364	Hearing abnormality
HP:0000369	Low-set ears
HP:0000414	Bulbous nose
HP:0000455	Broad nasal tip
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000506	Telecanthus
HP:0000508	Ptosis
HP:0000540	Hypermetropia
HP:0000629	Periorbital fullness
HP:0000708	Atypical behavior
HP:0000717	Autism

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006629_103	Pulse pressure	1.000000e-13
GCST008745_5	Estimated glomerular filtration rate in non-diabetics	2.000000e-10
GCST008747_161	Estimated glomerular filtration rate	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement

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)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects binding, decreases expression, increases methylation, affects expression	4
Aflatoxin B1	affects binding, decreases expression, decreases methylation	4
bisphenol A	decreases reaction, increases expression, affects binding, affects cotreatment, increases methylation	3
sodium arsenite	increases expression, affects expression, affects cotreatment, decreases expression	3
cobaltous chloride	affects expression, increases expression, affects cotreatment	2
manganese chloride	increases phosphorylation, decreases reaction, increases abundance, increases expression, affects binding (+2 more)	2
Sunitinib	affects binding, increases expression	2
Arsenic Trioxide	affects methylation, decreases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Glucose	increases reaction, affects binding, affects localization, affects cotreatment, decreases reaction (+2 more)	2
Manganese	increases reaction, affects localization, increases phosphorylation, decreases reaction, increases abundance (+2 more)	2
Tobacco Smoke Pollution	increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, affects expression	2
IkK-16 compound	increases expression, decreases reaction, increases abundance	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
lead chloride	affects cotreatment, affects expression	1
cadmium sulfate	affects cotreatment, affects expression	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
beta-methylcholine	affects expression	1
bisindolylmaleimide I	decreases reaction, increases expression, decreases expression	1
jujuboside A	affects cotreatment, decreases reaction, increases expression, decreases expression, increases reaction	1
eprenetapopt	increases expression, affects reaction	1
silmitasertib	increases phosphorylation, affects binding, decreases reaction, increases abundance, increases reaction (+1 more)	1
diosbulbin B	increases response to substance, affects binding, affects localization, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Troglitazone	affects binding	1
Artesunate	decreases expression	1
Acetaminophen	affects binding, increases expression, affects response to substance	1
Acetylcysteine	decreases reaction, increases abundance, increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1

Cellosaurus cell lines

10 cell lines: 4 cancer cell line, 3 embryonic stem cell, 2 induced pluripotent stem cell, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A7Z3	SEES3-1V human YY1, clone1	Embryonic stem cell	Male
CVCL_A7Z4	SEES3-1V human YY1, clone2	Embryonic stem cell	Male
CVCL_A7Z5	SEES3-1V human YY1, clone3	Embryonic stem cell	Male
CVCL_A8PF	UMILi009-A	Induced pluripotent stem cell	Female
CVCL_B8AK	Abcam Raji YY1 KO	Cancer cell line	Male
CVCL_C0BF	Abcam THP-1 YY1 KO	Cancer cell line	Male
CVCL_C7D2	Abcam PC-3 YY1 KO	Cancer cell line	Male
CVCL_E1KY	HyCyte HeLa KO-hYY1	Cancer cell line	Female
CVCL_XV83	HEK293 eGFP-YY1	Transformed cell line	Female
CVCL_YC73	UMILi010-A	Induced pluripotent stem cell	Female

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