SNAPC3

gene
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Also known as SNAP50PTFbetaMGC33124MGC132011

Summary

SNAPC3 (small nuclear RNA activating complex polypeptide 3, HGNC:11136) is a protein-coding gene on chromosome 9p22.3, encoding snRNA-activating protein complex subunit 3 (Q92966). Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. It is a common-essential gene (DepMap: required in 97.9% of cancer cell lines).

Predicted to enable RNA polymerase III type 3 promoter sequence-specific DNA binding activity and bent DNA binding activity. Predicted to contribute to RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and core promoter sequence-specific DNA binding activity. Predicted to be involved in snRNA transcription by RNA polymerase II and snRNA transcription by RNA polymerase III. Located in nuclear body and nucleolus.

Source: NCBI Gene 6619 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 82 total — 2 pathogenic
  • Cancer dependency (DepMap): dependent in 97.9% of screened cell lines (common-essential)
  • MANE Select transcript: NM_001039697

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:11136
Approved symbolSNAPC3
Namesmall nuclear RNA activating complex polypeptide 3
Location9p22.3
Locus typegene with protein product
StatusApproved
AliasesSNAP50, PTFbeta, MGC33124, MGC132011
Ensembl geneENSG00000164975
Ensembl biotypeprotein_coding
OMIM602348
Entrez6619

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000380799, ENST00000380821, ENST00000421710, ENST00000461041, ENST00000467062, ENST00000490969, ENST00000610884, ENST00000892142, ENST00000892143, ENST00000965147, ENST00000965148

RefSeq mRNA: 6 — MANE Select: NM_001039697 NM_001039697, NM_001369647, NM_001369648, NM_001369649, NM_001369650, NM_001369651

CCDS: CCDS6478

Canonical transcript exons

ENST00000380821 — 9 exons

ExonStartEnd
ENSE000010890831543355215433636
ENSE000010890861544460215444706
ENSE000010891021545132015451402
ENSE000010891041544709515447244
ENSE000014864271545971915461626
ENSE000017321771545796015458067
ENSE000018870401542287615423193
ENSE000027165941545304115453205
ENSE000035569531542390915423986

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 93.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.9694 / max 270.0191, expressed in 1807 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
9614528.95551807
961440.01394

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
ganglionic eminenceUBERON:000402393.88gold quality
ventricular zoneUBERON:000305393.75gold quality
adrenal tissueUBERON:001830393.19gold quality
cortical plateUBERON:000534392.58gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450292.40gold quality
left testisUBERON:000453392.20gold quality
right testisUBERON:000453492.18gold quality
heart right ventricleUBERON:000208092.14gold quality
testisUBERON:000047391.35gold quality
calcaneal tendonUBERON:000370190.91gold quality
embryoUBERON:000092290.27gold quality
biceps brachiiUBERON:000150790.07gold quality
sural nerveUBERON:001548889.81gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099189.80gold quality
ponsUBERON:000098889.78gold quality
tendonUBERON:000004388.90gold quality
medial globus pallidusUBERON:000247788.86gold quality
adult organismUBERON:000702388.71gold quality
right coronary arteryUBERON:000162588.30gold quality
rectumUBERON:000105288.11gold quality
endometriumUBERON:000129588.10gold quality
monocyteCL:000057687.88gold quality
popliteal arteryUBERON:000225087.88gold quality
tibial arteryUBERON:000761087.87gold quality
descending thoracic aortaUBERON:000234587.84gold quality
aortaUBERON:000094787.76gold quality
colonic epitheliumUBERON:000039787.68gold quality
thoracic aortaUBERON:000151587.66gold quality
Brodmann (1909) area 46UBERON:000648387.60gold quality
globus pallidusUBERON:000187587.58gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes5.31
E-GEOD-124858no114.53

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

86 targeting SNAPC3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-5692A100.0074.406850
HSA-MIR-3163100.0077.238605
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-186-5P99.9970.833707
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-1213699.9872.815713
HSA-MIR-477599.9875.006394
HSA-MIR-9-3P99.9670.882068
HSA-MIR-144-3P99.9473.982698
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-314399.9371.963104
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-129999.7771.242389
HSA-MIR-320A-3P99.7769.732107
HSA-MIR-320B99.7769.732107
HSA-MIR-320C99.7769.732107
HSA-MIR-320D99.7769.732107
HSA-MIR-442999.7769.622111
HSA-MIR-6885-3P99.7570.363187
HSA-MIR-430699.7270.503630
HSA-MIR-30B-3P99.7065.762325
HSA-MIR-3689A-3P99.7065.732306
HSA-MIR-3689B-3P99.7065.712311
HSA-MIR-3689C99.7065.712311
HSA-MIR-6779-5P99.7065.762363
HSA-MIR-58799.6470.862611
HSA-MIR-548AV-5P99.6070.842107

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

  • SNAP50 zinc finger domain contributes to cooperative promoter recognition by human SNAPC (PMID:16901896)

Cross-species orthologs

8 orthologs

OrganismSymbolGene ID
danio_reriosnapc3ENSDARG00000101474
mus_musculusSnapc3ENSMUSG00000028483
rattus_norvegicusSnapc3ENSRNOG00000010825
drosophila_melanogasterPbp49FBGN0260398
caenorhabditis_elegansWBGENE00011367
caenorhabditis_elegansWBGENE00015098
caenorhabditis_eleganssnpc-3.2WBGENE00021667
caenorhabditis_elegansY48G1BL.8WBGENE00255594

Protein

Protein identifiers

snRNA-activating protein complex subunit 3Q92966 (reviewed: Q92966)

Alternative names: Proximal sequence element-binding transcription factor subunit beta, Small nuclear RNA-activating complex polypeptide 3, snRNA-activating protein complex 50 kDa subunit

All UniProt accessions (3): Q92966, Q5T282, Q5T284

UniProt curated annotations — full annotation on UniProt →

Function. Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box.

Subunit / interactions. Part of the SNAPc complex composed of 5 subunits: SNAPC1, SNAPC2, SNAPC3, SNAPC4 and SNAPC5. SNAPC3 interacts with SNAPC1.

Subcellular location. Nucleus.

Similarity. Belongs to the SNAPC3/SRD2 family.

RefSeq proteins (6): NP_001034786, NP_001356576, NP_001356577, NP_001356578, NP_001356579, NP_001356580 (=MANE)

Domains & families (InterPro)

IDNameType
IPR022042snRNA-activating_su3Family

Pfam: PF12251

UniProt features (42 total): strand 21, helix 11, turn 6, region of interest 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

18 structures.

PDBMethodResolution (Å)
7ZWDELECTRON MICROSCOPY3
7ZX8ELECTRON MICROSCOPY3
9K3UELECTRON MICROSCOPY3
7ZWCELECTRON MICROSCOPY3.2
9FSOELECTRON MICROSCOPY3.28
9LXNELECTRON MICROSCOPY3.3
9FSPELECTRON MICROSCOPY3.39
7ZX7ELECTRON MICROSCOPY3.4
8IUHELECTRON MICROSCOPY3.4
7XURELECTRON MICROSCOPY3.49
7ZXEELECTRON MICROSCOPY3.5
9K3VELECTRON MICROSCOPY3.5
9FSQELECTRON MICROSCOPY3.51
9FSRELECTRON MICROSCOPY3.76
8ITYELECTRON MICROSCOPY3.9
8IUEELECTRON MICROSCOPY4.1
9FSSELECTRON MICROSCOPY4.14
9K3BELECTRON MICROSCOPY4.8

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q92966-F185.100.53

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-6807505RNA polymerase II transcribes snRNA genes
R-HSA-749476RNA Polymerase III Abortive And Retractive Initiation
R-HSA-76071RNA Polymerase III Transcription Initiation From Type 3 Promoter
R-HSA-73857RNA Polymerase II Transcription
R-HSA-74158RNA Polymerase III Transcription
R-HSA-74160Gene expression (Transcription)
R-HSA-76046RNA Polymerase III Transcription Initiation

MSigDB gene sets: 144 (showing top): REACTOME_RNA_POLYMERASE_III_TRANSCRIPTION_INITIATION_FROM_TYPE_3_PROMOTER, GOZGIT_ESR1_TARGETS_DN, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, AACWWCAANK_UNKNOWN, GCM_NF2, BANDRES_RESPONSE_TO_CARMUSTIN_MGMT_24HR_UP, CUI_TCF21_TARGETS_2_DN, ACEVEDO_LIVER_CANCER_UP, DANG_BOUND_BY_MYC, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, PARENT_MTOR_SIGNALING_UP, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, MARSON_BOUND_BY_FOXP3_STIMULATED, BANDRES_RESPONSE_TO_CARMUSTIN_WITHOUT_MGMT_48HR_UP, BENPORATH_MYC_MAX_TARGETS

GO Biological Process (5): transcription by RNA polymerase II (GO:0006366), transcription by RNA polymerase III (GO:0006383), snRNA transcription (GO:0009301), snRNA transcription by RNA polymerase II (GO:0042795), snRNA transcription by RNA polymerase III (GO:0042796)

GO Molecular Function (7): RNA polymerase III general transcription initiation factor activity (GO:0000995), RNA polymerase III type 3 promoter sequence-specific DNA binding (GO:0001006), DNA binding (GO:0003677), bent DNA binding (GO:0003681), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), core promoter sequence-specific DNA binding (GO:0001046), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), nuclear body (GO:0016604), snRNA-activating protein complex (GO:0019185)

Reactome top-level categories

Rollup of top-4 pathways:

CategoryPathways
RNA Polymerase III Transcription2
Gene expression (Transcription)2
RNA Polymerase II Transcription1
RNA Polymerase III Transcription Initiation1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
DNA-templated transcription3
snRNA transcription2
transcription by RNA polymerase III2
nuclear lumen2
intracellular membraneless organelle2
snRNA metabolic process1
transcription by RNA polymerase II1
general transcription initiation factor activity1
RNA polymerase III cis-regulatory region sequence-specific DNA binding1
nucleic acid binding1
DNA binding1
RNA polymerase II transcription regulatory region sequence-specific DNA binding1
cis-regulatory region sequence-specific DNA binding1
transcription cis-regulatory region binding1
binding1
intracellular membrane-bounded organelle1
cellular anatomical structure1
nucleoplasm1
transcription regulator complex1

Protein interactions and networks

STRING

1244 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SNAPC3SNAPC1Q16533999
SNAPC3SNAPC2Q13487999
SNAPC3SNAPC4Q5SXM2997
SNAPC3SNAPC5O75971983
SNAPC3TBPP20226806
SNAPC3TAF1AQ15573681
SNAPC3POLIQ9UNA4597
SNAPC3ZNF488Q96MN9548
SNAPC3LSM8O95777537
SNAPC3CCDC171Q6TFL3475
SNAPC3ASXL1Q8IXJ9473
SNAPC3TAF1DQ9H5J8465
SNAPC3MNMIP1A4FU49451
SNAPC3TNPO3Q9Y5L0449
SNAPC3SHISA4Q96DD7448

IntAct

80 interactions, top by confidence:

ABTypeScore
SNAPC1SNAPC3psi-mi:“MI:0915”(physical association)0.850
SNAPC1SNAPC3psi-mi:“MI:0914”(association)0.850
SNAPC4SNAPC1psi-mi:“MI:0914”(association)0.790
SNAPC1SNAPC5psi-mi:“MI:0914”(association)0.740
SNAPC1SNAPC5psi-mi:“MI:0915”(physical association)0.740
HSD17B14SNAPC3psi-mi:“MI:0915”(physical association)0.670
SNAPC3HSD17B14psi-mi:“MI:0915”(physical association)0.670
CEP57L1SNAPC3psi-mi:“MI:0915”(physical association)0.560
SNAPC3CEP57L1psi-mi:“MI:0915”(physical association)0.560
TTC4SNAPC3psi-mi:“MI:0915”(physical association)0.560
NFKBIDSNAPC3psi-mi:“MI:0915”(physical association)0.560
UBE3ASNAPC3psi-mi:“MI:0915”(physical association)0.560
ZNF620SNAPC3psi-mi:“MI:0915”(physical association)0.560
SNAPC3KATNBL1psi-mi:“MI:0915”(physical association)0.560
SNRNP35SNAPC3psi-mi:“MI:0915”(physical association)0.560
SNAPC3psi-mi:“MI:0915”(physical association)0.560
SNAPC3HSPB1psi-mi:“MI:0915”(physical association)0.560
NEFLSNAPC3psi-mi:“MI:0915”(physical association)0.560
SNAPC3WFS1psi-mi:“MI:0915”(physical association)0.560
SNAPC3KIF1Bpsi-mi:“MI:0915”(physical association)0.560

BioGRID (64): HSD17B14 (Two-hybrid), CEP57L1 (Two-hybrid), SNAPC3 (Affinity Capture-MS), SNAPC3 (Affinity Capture-MS), SNAPC3 (Affinity Capture-MS), SNAPC3 (Affinity Capture-MS), SNAPC3 (Affinity Capture-MS), SNAPC3 (Two-hybrid), SNAPC3 (Two-hybrid), SNAPC3 (Two-hybrid), NFKBID (Two-hybrid), ZNF620 (Two-hybrid), SNRNP35 (Two-hybrid), TTC4 (Two-hybrid), SNAPC3 (Two-hybrid)

ESM2 similar proteins: A0A087WRI3, A2AIP0, A4IFQ0, A8MTA8, H3BNL1, O70373, O95983, P21580, P55199, Q0VB26, Q1JQA1, Q1RMS8, Q2TA11, Q2TBR5, Q3B7L5, Q3ZK22, Q4R6Y6, Q4R8W3, Q4VA36, Q5RFL7, Q5XI52, Q60769, Q62522, Q68FX7, Q69Z89, Q6ZQR2, Q702N8, Q76JQ2, Q7Z6J9, Q86UT8, Q8CEG5, Q8CHQ0, Q8IW40, Q8N1D5, Q8N6G2, Q8N801, Q8NFG4, Q8QZS3, Q91Z62, Q91ZP9

Diamond homologs: Q4R6Y6, Q5BK68, Q5E9M5, Q8L627, Q92966, Q9D2C9

SIGNOR signaling

1 interactions.

AEffectBMechanism
SNAPC3“form complex”SNAPCbinding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic2
Likely pathogenic0
Uncertain significance67
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (2)

Variant IDHGVSClassification
562130GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1Pathogenic
59101GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1Pathogenic

SpliceAI

1797 predictions. Top by Δscore:

VariantEffectΔscore
9:15423907:A:AGacceptor_gain1.0000
9:15423908:G:GGacceptor_gain1.0000
9:15423908:GCCTT:Gacceptor_gain1.0000
9:15423987:G:GAdonor_loss1.0000
9:15433540:C:Gacceptor_gain1.0000
9:15433547:AACAG:Aacceptor_gain1.0000
9:15433550:AG:Aacceptor_gain1.0000
9:15433551:GG:Gacceptor_gain1.0000
9:15433633:GATG:Gdonor_gain1.0000
9:15444597:TTCAG:Tacceptor_loss1.0000
9:15444598:TCAG:Tacceptor_loss1.0000
9:15444598:TCAGG:Tacceptor_gain1.0000
9:15444599:CAGG:Cacceptor_gain1.0000
9:15444600:A:AGacceptor_gain1.0000
9:15444600:A:Cacceptor_loss1.0000
9:15444600:AG:Aacceptor_gain1.0000
9:15444600:AGGA:Aacceptor_gain1.0000
9:15444601:G:Aacceptor_gain1.0000
9:15444601:G:GAacceptor_gain1.0000
9:15444601:G:Tacceptor_loss1.0000
9:15444601:GGA:Gacceptor_gain1.0000
9:15444601:GGAG:Gacceptor_gain1.0000
9:15444601:GGAGT:Gacceptor_gain1.0000
9:15444702:ATAAG:Adonor_gain1.0000
9:15444703:TAAG:Tdonor_gain1.0000
9:15444704:AAG:Adonor_gain1.0000
9:15444705:AG:Adonor_gain1.0000
9:15444705:AGG:Adonor_loss1.0000
9:15444706:GG:Gdonor_gain1.0000
9:15444707:G:GGdonor_gain1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000037035 (9:15443854 A>G), RS1000141949 (9:15439421 C>G,T), RS1000184641 (9:15432547 T>C), RS1000221548 (9:15435155 C>A,T), RS1000257620 (9:15430899 A>G), RS1000302981 (9:15464403 A>G,T), RS1000362100 (9:15426068 G>C,T), RS1000382412 (9:15448963 T>C), RS1000394004 (9:15422327 C>G,T), RS1000416291 (9:15426237 C>G,T), RS1000502696 (9:15445506 A>G,T), RS1000539947 (9:15441390 T>TTTC), RS1000664276 (9:15440571 G>A,T), RS1000673489 (9:15436662 T>C), RS1000721926 (9:15435444 C>T)

Disease associations

OMIM: gene MIM:602348 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

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

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008607Intellectual DisabilityC10.597.606.360; 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

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression, increases expression5
sodium arseniteaffects cotreatment, increases abundance, increases expression, affects expression2
entinostatdecreases expression, affects cotreatment2
Aflatoxin B1decreases methylation, increases expression, increases methylation2
aristolochic acid Idecreases expression1
bisphenol Faffects cotreatment, decreases expression1
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
titanium dioxidedecreases expression1
manganese chlorideincreases expression, affects cotreatment, increases abundance1
K 7174increases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
Temozolomideincreases expression1
Sunitinibincreases expression1
Air Pollutants, Occupationaldecreases expression1
Arsenicaffects cotreatment, increases abundance, increases expression1
Atrazinedecreases expression1
Benzo(a)pyrenedecreases methylation1
Carmustineincreases expression1
Cisplatinincreases response to substance1
Coumestroldecreases expression1
Dexamethasoneaffects cotreatment, decreases expression1
Dimethyl Sulfoxideincreases expression1
Doxorubicindecreases expression1
Hydrogen Peroxideincreases expression1
Indomethacinaffects cotreatment, decreases expression1
Manganeseaffects cotreatment, increases abundance, increases expression1
Nickeldecreases expression1
Nicotineincreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT05657860PHASE4COMPLETEDGuanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479PHASE4RECRUITINGMetformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829PHASE4WITHDRAWNValbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198PHASE4NOT_YET_RECRUITINGDeutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736PHASE3COMPLETEDClinical 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
NCT02304302PHASE2COMPLETEDDown Syndrome Memantine Follow-up Study
NCT03862950PHASE2COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226PHASE2UNKNOWNStudy to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856PHASE2COMPLETEDEvaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320PHASE1COMPLETEDClinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361PHASE1ENROLLING_BY_INVITATIONSensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764PHASE1COMPLETEDUse of MRI and cTBS for Catatonia in Autism
NCT06586827PHASE1COMPLETEDImpact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940PHASE1NOT_YET_RECRUITINGEscalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476PHASE2/PHASE3COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796PHASE1/PHASE2COMPLETEDEffects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672EARLY_PHASE1RECRUITINGClinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948Not specifiedCOMPLETEDHealthy Lifestyles for People With Intellectual Disabilities
NCT01087320Not specifiedRECRUITINGGenome Medical Sequencing for Gene Discovery
NCT01652963Not specifiedUNKNOWNPicture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395Not specifiedCOMPLETEDMental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554Not specifiedCOMPLETEDResearch and Characterization of New Genes Involved in Intellectual Disability
NCT01915381Not specifiedCOMPLETEDImproving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623Not specifiedCOMPLETEDPivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773Not specifiedCOMPLETEDSupport Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849Not specifiedCOMPLETEDInter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041Not specifiedCOMPLETEDSedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438Not specifiedCOMPLETEDEstablishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761Not specifiedCOMPLETEDApparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420Not specifiedACTIVE_NOT_RECRUITINGMapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459Not specifiedACTIVE_NOT_RECRUITINGAutism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081Not specifiedCOMPLETEDDevelopment and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502Not specifiedCOMPLETEDEnhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277Not specifiedCOMPLETEDDiabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754Not specifiedCOMPLETEDWeight Management for Adolescents With IDD
NCT02591446Not specifiedCOMPLETEDTranscranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868Not specifiedCOMPLETEDEvaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394Not specifiedUNKNOWNFCT With Young Children With ID in the UK: A Feasibility Project V.1
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