GTF3A

Summary

GTF3A (general transcription factor IIIA, HGNC:4662) is a protein-coding gene on chromosome 13q12.2, encoding Transcription factor IIIA (Q92664). Involved in ribosomal large subunit biogenesis. It is a common-essential gene (DepMap: required in 96.3% of cancer cell lines).

The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein.

Source: NCBI Gene 2971 — RefSeq curated summary.

At a glance

• Gene–disease (curated): herpes simplex encephalitis (Limited, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 66 total
• Cancer dependency (DepMap): dependent in 96.3% of screened cell lines (common-essential)
• Transcription factor: yes — 30 downstream targets (CollecTRI)
• MANE Select transcript: NM_002097

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4662
Approved symbol	GTF3A
Name	general transcription factor IIIA
Location	13q12.2
Locus type	gene with protein product
Status	Approved
Aliases	TFIIIA, AP2
Ensembl gene	ENSG00000122034
Ensembl biotype	protein_coding
OMIM	600860
Entrez	2971

Gene structure

Transcript identifiers

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

ENST00000381140, ENST00000419181, ENST00000435781, ENST00000438571, ENST00000466776, ENST00000470606, ENST00000482655, ENST00000493903

RefSeq mRNA: 1 — MANE Select: NM_002097 NM_002097

CCDS: CCDS45019

Canonical transcript exons

ENST00000381140 — 9 exons

Exon	Start	End
ENSE00001157750	27424619	27424938
ENSE00003472001	27435133	27435192
ENSE00003529161	27434139	27434219
ENSE00003530571	27430533	27430621
ENSE00003551875	27427092	27427192
ENSE00003557981	27432731	27432804
ENSE00003600163	27435433	27435823
ENSE00003613578	27434805	27435034
ENSE00003618649	27429870	27429966

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 106.4727 / max 667.7674, expressed in 1828 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134518	98.1663	1828
134519	6.1123	1621
134520	1.3969	784
134521	0.7972	473

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	99.39	gold quality
gluteal muscle	UBERON:0002000	99.26	gold quality
heart right ventricle	UBERON:0002080	98.96	gold quality
middle temporal gyrus	UBERON:0002771	98.84	gold quality
apex of heart	UBERON:0002098	98.83	gold quality
biceps brachii	UBERON:0001507	98.76	gold quality
diaphragm	UBERON:0001103	98.61	gold quality
palpebral conjunctiva	UBERON:0001812	98.59	gold quality
body of tongue	UBERON:0011876	98.55	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.53	gold quality
gastrocnemius	UBERON:0001388	98.45	gold quality
granulocyte	CL:0000094	98.44	gold quality
cardiac ventricle	UBERON:0002082	98.38	gold quality
heart left ventricle	UBERON:0002084	98.37	gold quality
tongue	UBERON:0001723	98.33	gold quality
triceps brachii	UBERON:0001509	98.27	gold quality
trabecular bone tissue	UBERON:0002483	98.24	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.24	gold quality
muscle of leg	UBERON:0001383	98.23	gold quality
right atrium auricular region	UBERON:0006631	98.23	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.22	gold quality
tibia	UBERON:0000979	98.18	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.16	gold quality
gingival epithelium	UBERON:0001949	98.15	gold quality
tongue squamous epithelium	UBERON:0006919	98.15	gold quality
bone marrow	UBERON:0002371	98.09	gold quality
parietal pleura	UBERON:0002400	98.06	gold quality
pigmented layer of retina	UBERON:0001782	98.05	gold quality
thymus	UBERON:0002370	98.04	gold quality
pleura	UBERON:0000977	98.02	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	27.87
E-MTAB-9067	yes	9.96
E-MTAB-6379	no	3059.96
E-MTAB-6524	no	277.26
E-ENAD-17	no	165.04
E-CURD-112	no	2.11
E-HCAD-31	no	2.03
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

30 targets.

Target	Regulation
ABCA1
ACTG2
ADM	Unknown
BAG3	Activation
BIRC5
BOK
BTK
CAT
CXCL8
EPO
ERVK-11
FUS	Unknown
GPS2
GTF3A
HSPA4
IGF2
KDR
LCT
LIPG
LPP
NME1
NPPB
PDGFA
PLAU
RAD51B	Unknown
RN5S1@
SCN5A
STAT1	Unknown
TNF
VEGFA

Upstream regulators (CollecTRI, top): GTF3A, JUN

miRNA regulators (miRDB)

9 targeting GTF3A, 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-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-4711-5P	98.89	68.00	965
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-5691	98.23	67.02	1335
HSA-MIR-6805-3P	98.23	67.02	1334

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 96.3% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• Comprehensive Analysis of Prognostic and Genetic Signatures for General Transcription Factor III (GTF3) in Clinical Colorectal Cancer Patients Using Bioinformatics Approaches. (PMID:33925358)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	gtf3aa	ENSDARG00000030267
danio_rerio	gtf3ab	ENSDARG00000071583
mus_musculus	Gtf3a	ENSMUSG00000016503
rattus_norvegicus	Gtf3a	ENSRNOG00000050016
drosophila_melanogaster	dwg	FBGN0000520
drosophila_melanogaster	CG6654	FBGN0038301
caenorhabditis_elegans		WBGENE00003933

Paralogs (6): ZNF324 (ENSG00000083812), ZBTB47 (ENSG00000114853), ZUP1 (ENSG00000153975), ZNF513 (ENSG00000163795), ZNF652 (ENSG00000198740), ZNF324B (ENSG00000249471)

Protein

Protein identifiers

Transcription factor IIIA — Q92664 (reviewed: Q92664)

All UniProt accessions (5): A0A1X7SBT5, Q92664, H7BZ51, H7BZH7, H7C326

UniProt curated annotations — full annotation on UniProt →

Function. Involved in ribosomal large subunit biogenesis. Binds the approximately 50 base pairs internal control region (ICR) of 5S ribosomal RNA genes. It is required for their RNA polymerase III-dependent transcription and may also maintain the transcription of other genes. Also binds the transcribed 5S RNA’s.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92664-1	1	yes
Q92664-2	2

RefSeq proteins (1): NP_002088* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR051061
IPR054599	TFIIIA_Zfn-C2H2	Domain

Pfam: PF00096, PF22110

UniProt features (15 total): zinc finger region 9, splice variant 2, sequence conflict 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92664-F1	70.42	0.06

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-749476	RNA Polymerase III Abortive And Retractive Initiation
R-HSA-76061	RNA Polymerase III Transcription Initiation From Type 1 Promoter
R-HSA-74158	RNA Polymerase III Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-76046	RNA Polymerase III Transcription Initiation

MSigDB gene sets: 164 (showing top): GOBP_RIBOSOME_BIOGENESIS, LIANG_HEMATOPOIESIS_STEM_CELL_NUMBER_SMALL_VS_HUGE_UP, FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, KAAB_FAILED_HEART_ATRIUM_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, GOBP_RRNA_TRANSCRIPTION, PUJANA_CHEK2_PCC_NETWORK, ONKEN_UVEAL_MELANOMA_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GNF2_FBL, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, DOUGLAS_BMI1_TARGETS_UP, KAAB_FAILED_HEART_VENTRICLE_DN

GO Biological Process (4): transcription by RNA polymerase III (GO:0006383), rRNA transcription (GO:0009303), ribosomal large subunit biogenesis (GO:0042273), ribosome biogenesis (GO:0042254)

GO Molecular Function (6): DNA binding (GO:0003677), 5S rRNA binding (GO:0008097), zinc ion binding (GO:0008270), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
RNA Polymerase III Transcription	2
RNA Polymerase III Transcription Initiation	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
ribonucleoprotein complex biogenesis	2
nucleic acid binding	2
rRNA metabolic process	1
ribosome biogenesis	1
rRNA binding	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1248 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GTF3A	GTF3C1	Q12789	995
GTF3A	OPTN	Q96CV9	962
GTF3A	BDP1	A6H8Y1	913
GTF3A	BRF1	Q92994	779
GTF3A	MTIF3	Q9H2K0	669
GTF3A	TBP	P20226	649
GTF3A	SLC46A2	Q9BY10	631
GTF3A	RPL5	P46777	582
GTF3A	ZNF395	Q9H8N7	541
GTF3A	POLI	Q9UNA4	518
GTF3A	MYOC	Q99972	508
GTF3A	H3BSS0	H3BSS0	503
GTF3A	RAB8A	P24407	498
GTF3A	TMEM160	Q9NX00	492
GTF3A	WDR83OS	Q9Y284	474

IntAct

13 interactions, top by confidence:

A	B	Type	Score
GTF3A	ABL1	psi-mi:“MI:0915”(physical association)	0.400
GTF3A	FYN	psi-mi:“MI:0915”(physical association)	0.400
GTF3A	CHMP5	psi-mi:“MI:0915”(physical association)	0.370
GTF3A	SSB	psi-mi:“MI:0914”(association)	0.350
SSB	RPS3A	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
APP	GTF3A	psi-mi:“MI:0915”(physical association)	0.000
GTF3A	hscC	psi-mi:“MI:0915”(physical association)	0.000
dinG	GTF3A	psi-mi:“MI:0915”(physical association)	0.000
yapG	GTF3A	psi-mi:“MI:0915”(physical association)	0.000
GTF3A		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): GTF3A (Affinity Capture-Western), GTF3A (Affinity Capture-Western), GTF3A (Synthetic Lethality), GTF3A (Affinity Capture-Western), GTF3A (Phenotypic Suppression), GTF3A (Affinity Capture-Western), GTF3A (Negative Genetic), GTF3A (Negative Genetic), GTF3C5 (Affinity Capture-MS), GTF3C3 (Affinity Capture-MS), SSB (Affinity Capture-MS), GTF3A (Affinity Capture-MS), GTF3A (Affinity Capture-MS), GTF3A (Negative Genetic), GTF3A (Two-hybrid)

ESM2 similar proteins: A2APF3, D3ZUU2, E9Q8T2, O08961, P03001, P07665, P17842, P19382, P25066, P25456, P34694, P34695, P38621, P39933, P49711, P57071, P79797, P80944, Q08705, Q13105, Q29419, Q2M1K9, Q4VBD9, Q59KL6, Q60821, Q61164, Q6KAS7, Q6NUD7, Q6NZQ6, Q7TS63, Q80TS5, Q811F1, Q84MZ4, Q8N1W2, Q8NDX6, Q8NI51, Q8SW43, Q8VHT7, Q8VHT8, Q92664

Diamond homologs: P03001, P08047, P17842, P22227, P25456, P31509, P34694, P34695, P79797, Q01798, Q01800, Q02026, Q02027, Q22678, Q59KL6, Q8VHT7, Q8VHT8, Q92664, Q9BXK1, A0A0U1RQI7, O14901, Q9Y5W3, P25066, A2ANX9, A7Y7X5, B0YDH7, J9VE33, P10925, P20662, P25490, Q00899, Q12145, Q8K1S5, Q8ST83, Q99PV8, Q9C0K0, Q9EPW2, Q9H165, Q9QYE3, Q9UIH9

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
GTF3A	“up-regulates activity”	TFIIIB	relocalization
GTF3A	“up-regulates activity”	“RNA Polymerase III”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1526 predictions. Top by Δscore:

Variant	Effect	Δscore
13:27424851:G:GT	donor_gain	1.0000
13:27424902:G:GT	donor_gain	1.0000
13:27427086:T:TA	acceptor_gain	1.0000
13:27427087:GCTAG:G	acceptor_loss	1.0000
13:27427088:CTA:C	acceptor_loss	1.0000
13:27427090:A:AG	acceptor_gain	1.0000
13:27427091:G:GA	acceptor_gain	1.0000
13:27427091:GA:G	acceptor_gain	1.0000
13:27427091:GAGA:G	acceptor_gain	1.0000
13:27427091:GAGAC:G	acceptor_gain	1.0000
13:27427188:TTTGT:T	donor_gain	1.0000
13:27427189:TTGT:T	donor_gain	1.0000
13:27427190:TGTGT:T	donor_loss	1.0000
13:27427191:GT:G	donor_gain	1.0000
13:27427191:GTGTA:G	donor_loss	1.0000
13:27427193:G:GC	donor_loss	1.0000
13:27427193:G:GG	donor_gain	1.0000
13:27427194:T:TC	donor_loss	1.0000
13:27427195:A:AG	donor_loss	1.0000
13:27427196:AG:A	donor_loss	1.0000
13:27429858:A:AG	acceptor_gain	1.0000
13:27429859:A:G	acceptor_gain	1.0000
13:27429866:ACAG:A	acceptor_loss	1.0000
13:27429867:C:G	acceptor_gain	1.0000
13:27429868:A:AG	acceptor_gain	1.0000
13:27429868:AGTT:A	acceptor_gain	1.0000
13:27429869:G:GA	acceptor_gain	1.0000
13:27429869:GT:G	acceptor_gain	1.0000
13:27429869:GTT:G	acceptor_gain	1.0000
13:27429869:GTTG:G	acceptor_gain	1.0000

AlphaMissense

2438 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:27424917:C:A	H60Q	0.998
13:27424917:C:G	H60Q	0.998
13:27427131:T:C	F81L	0.998
13:27427133:C:A	F81L	0.998
13:27427133:C:G	F81L	0.998
13:27430579:T:C	L149P	0.998
13:27427156:G:C	R89P	0.997
13:27429898:T:C	F111L	0.997
13:27429900:C:A	F111L	0.997
13:27429900:C:G	F111L	0.997
13:27430560:T:C	F143L	0.997
13:27430562:T:A	F143L	0.997
13:27430562:T:G	F143L	0.997
13:27424900:T:A	W55R	0.996
13:27424900:T:C	W55R	0.996
13:27424907:T:C	L57P	0.996
13:27424929:C:A	H64Q	0.996
13:27424929:C:G	H64Q	0.996
13:27427150:T:C	L87P	0.996
13:27427160:C:A	H90Q	0.996
13:27427160:C:G	H90Q	0.996
13:27424861:T:C	C42R	0.995
13:27424863:C:G	C42W	0.995
13:27424878:C:G	C47W	0.995
13:27424915:C:A	H60N	0.995
13:27424915:C:G	H60D	0.995
13:27424919:T:C	L61P	0.995
13:27427104:T:C	C72R	0.995
13:27427172:C:A	H94Q	0.995
13:27427172:C:G	H94Q	0.995

dbSNP variants (sampled 300 via entrez): RS1000323459 (13:27429755 T>C), RS1000760497 (13:27431732 T>C), RS1000846928 (13:27425255 C>A,T), RS1000866716 (13:27432344 T>C), RS1001194290 (13:27432143 G>A), RS1001697488 (13:27431275 G>A), RS1001702948 (13:27433168 A>C,G), RS1001807581 (13:27424688 T>G), RS1001881688 (13:27426519 C>A,T), RS1001959347 (13:27432438 G>A), RS1002032948 (13:27432744 G>A,C), RS1002387610 (13:27433396 C>T), RS1002549294 (13:27426018 A>G), RS1002835550 (13:27425434 A>T), RS1002887963 (13:27425297 G>A)

Disease associations

OMIM: gene MIM:600860 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
herpes simplex encephalitis	Limited	Autosomal recessive

Mondo (2): intellectual disability (MONDO:0001071), herpes simplex encephalitis (MONDO:0012521)

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

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000830_34	Body mass index	9.000000e-10
GCST003542_166	Night sleep phenotypes	5.000000e-06
GCST010989_53	Body size at age 10	1.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0009819	comparative body size at age 10, self-reported

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D020803	Encephalitis, Herpes Simplex	C01.207.245.340.350; C01.207.399.750.350; C01.925.182.525.350; C01.925.256.466.262; C10.228.140.430.520.750.350; C10.228.228.245.340.350; C10.228.228.399.750.350; C10.586.250.520.750.350
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	3
Air Pollutants	increases abundance, decreases expression, affects expression	2
FR900359	decreases phosphorylation	1
bisphenol A	increases expression	1
geraniol	decreases expression	1
beta-lapachone	increases expression	1
sodium arsenite	decreases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	affects expression	1
K 7174	decreases expression	1
Resveratrol	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Formaldehyde	decreases expression	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tretinoin	increases expression	1
Vanadates	increases expression	1
Vinblastine	affects response to substance	1
Cyclosporine	decreases expression	1
Antirheumatic Agents	increases expression	1
Copper Sulfate	decreases expression	1
tert-Butylhydroperoxide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

201 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
NCT03084783	PHASE3	UNKNOWN	Dexamethasone in Herpes Simplex Virus Encephalitis
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)
NCT04339127	Not specified	UNKNOWN	Autoimmune Encephalitis With Anti-NMDA Receptor Antibodies Following Herpetic Encephalitis
NCT05127395	Not specified	COMPLETED	Impact of Obesity on Clinical Outcomes in Patients Receiving Acyclovir for HSV Encephalitis
NCT06627010	Not specified	UNKNOWN	Herpes Simplex Meningo Encephalitis Recurrence
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