ZGRF1

gene
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Also known as FLJ11331

Summary

ZGRF1 (zinc finger GRF-type containing 1, HGNC:25654) is a protein-coding gene on chromosome 4q25, encoding 5’-3’ DNA helicase ZGRF1 (Q86YA3). 5’-3’ DNA helicase which is recruited to sites of DNA damage and promotes repair of replication-blocking DNA lesions through stimulation of homologous recombination (HR).

The encoded protein contains GRF zinc finger (zf-GRF) and transmembrane domains. GRF zinc fingers are found in a number of DNA-binding proteins. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 55345 — RefSeq curated summary.

At a glance

  • GWAS associations: 5
  • Clinical variants (ClinVar): 305 total
  • MANE Select transcript: NM_018392

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:25654
Approved symbolZGRF1
Namezinc finger GRF-type containing 1
Location4q25
Locus typegene with protein product
StatusApproved
AliasesFLJ11331
Ensembl geneENSG00000138658
Ensembl biotypeprotein_coding
Entrez55345

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 9 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron

ENST00000264370, ENST00000309071, ENST00000445203, ENST00000473015, ENST00000502805, ENST00000503172, ENST00000505019, ENST00000506675, ENST00000512075, ENST00000514770, ENST00000612287, ENST00000925930, ENST00000925931, ENST00000925932, ENST00000925933, ENST00000925934

RefSeq mRNA: 2 — MANE Select: NM_018392 NM_001350397, NM_018392

CCDS: CCDS3700

Canonical transcript exons

ENST00000505019 — 28 exons

ExonStartEnd
ENSE00001081365112562371112562485
ENSE00001204701112606008112606091
ENSE00001325774112560733112560995
ENSE00001380072112603524112603697
ENSE00001724813112539339112539689
ENSE00002035425112589724112589874
ENSE00003517792112583978112584174
ENSE00003518149112587280112587929
ENSE00003520121112563131112563274
ENSE00003521632112547285112547408
ENSE00003522575112620002112620190
ENSE00003528262112633156112633242
ENSE00003552898112617440112619690
ENSE00003572627112554705112554782
ENSE00003574344112612524112612588
ENSE00003588602112623817112623876
ENSE00003589797112540821112540955
ENSE00003614880112553835112553982
ENSE00003619087112548253112548380
ENSE00003624003112558150112558309
ENSE00003631664112541092112541268
ENSE00003640570112539863112540124
ENSE00003647426112609379112609429
ENSE00003650375112631930112632010
ENSE00003670892112585541112585725
ENSE00003682378112581663112581802
ENSE00003683265112586445112586583
ENSE00003909986112636851112636909

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 87.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.7271 / max 165.9154, expressed in 1115 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
536543.1521996
536560.3868207
536550.188282

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047387.95gold quality
ventricular zoneUBERON:000305385.22gold quality
ganglionic eminenceUBERON:000402382.77gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.75gold quality
calcaneal tendonUBERON:000370179.41gold quality
bone marrow cellCL:000209279.11gold quality
oocyteCL:000002378.44gold quality
corpus callosumUBERON:000233677.97gold quality
adrenal tissueUBERON:001830377.72gold quality
vermiform appendixUBERON:000115477.59gold quality
spleenUBERON:000210676.19gold quality
granulocyteCL:000009476.18gold quality
bone marrowUBERON:000237176.18gold quality
cerebellar hemisphereUBERON:000224575.14gold quality
cerebellar cortexUBERON:000212975.05gold quality
lymph nodeUBERON:000002975.00gold quality
right hemisphere of cerebellumUBERON:001489074.91gold quality
testisUBERON:000047374.85gold quality
right testisUBERON:000453474.20gold quality
C1 segment of cervical spinal cordUBERON:000646974.12gold quality
trabecular bone tissueUBERON:000248374.03gold quality
rectumUBERON:000105273.98gold quality
left testisUBERON:000453373.94gold quality
cerebellumUBERON:000203773.93gold quality
small intestine Peyer’s patchUBERON:000345473.86gold quality
mucosa of stomachUBERON:000119973.83gold quality
tibial nerveUBERON:000132373.78gold quality
secondary oocyteCL:000065573.26gold quality
caecumUBERON:000115373.20gold quality
thymusUBERON:000237072.78gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no6.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting ZGRF1, 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-3163100.0077.238605
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-6516-3P99.6568.571238
HSA-MIR-129099.5969.902079
HSA-MIR-21-5P99.4670.541035
HSA-MIR-4666A-5P99.4169.721887
HSA-MIR-590-5P99.2570.76930
HSA-MIR-4680-3P98.6468.602093
HSA-MIR-1022698.2566.50811
HSA-MIR-2681-3P98.1865.28577
HSA-MIR-127997.8367.501898
HSA-MIR-96-3P97.4768.03839
HSA-MIR-627-5P95.5166.80509

Literature-anchored findings (GeneRIF, showing 2)

  • Two novel loci IDH1 and ZGRF1 are associated with adiposity. [meta-analysis] (PMID:26599207)
  • The ZGRF1 Helicase Promotes Recombinational Repair of Replication-Blocking DNA Damage in Human Cells. (PMID:32640219)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

5’-3’ DNA helicase ZGRF1Q86YA3 (reviewed: Q86YA3)

Alternative names: GRF-type zinc finger domain-containing protein 1

All UniProt accessions (5): D6RB47, D6REN9, D6REQ7, Q86YA3, G3XAL8

UniProt curated annotations — full annotation on UniProt →

Function. 5’-3’ DNA helicase which is recruited to sites of DNA damage and promotes repair of replication-blocking DNA lesions through stimulation of homologous recombination (HR). Promotes HR by directly stimulating RAD51-mediated strand exchange activity. Not required to load RAD51 at sites of DNA damage but promotes recombinational repair after RAD51 recruitment. Also promotes HR by positively regulating EXO1-mediated DNA end resection of double-strand breaks. Required for recruitment of replication protein RPA2 to DNA damage sites. Promotes the initiation of the G2/M checkpoint but not its maintenance. Catalyzes Holliday junction branch migration and dissociation of D-loops and DNA flaps.

Subunit / interactions. Interacts with DNA repair protein RAD51; the interaction promotes RAD51 strand exchange activity. Also interacts with DNA repair proteins EXO1 and BRCA1; the interactions are increased following DNA damage induction.

Subcellular location. Nucleus.

Isoforms (7)

UniProt IDNamesCanonical?
Q86YA3-11yes
Q86YA3-22
Q86YA3-33
Q86YA3-44
Q86YA3-55
Q86YA3-66
Q86YA3-77

RefSeq proteins (2): NP_001337326, NP_060862* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR010666Znf_GRFDomain
IPR018838ZGRF1-like_NDomain
IPR027417P-loop_NTPaseHomologous_superfamily
IPR041677DNA2/NAM7_AAA_11Domain
IPR041679DNA2/NAM7-like_CDomain
IPR047187SF1_C_Upf1Domain
IPR052800DNA_Repair_Helicase_ZGRF1Family

Pfam: PF06839, PF10382, PF13086, PF13087

Catalyzed reactions (Rhea), 1 shown:

  • ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (37 total): splice variant 13, sequence variant 6, sequence conflict 4, binding site 4, modified residue 3, region of interest 2, compositionally biased region 2, chain 1, zinc finger region 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q86YA3-F150.080.18

Functional residue map

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

Ligand- & substrate-binding residues (4): 1349; 1351; 1374; 1382

Post-translational modifications (3): 336, 793, 864

Mutagenesis-validated functional residues (1):

PositionPhenotype
1660loss of helicase activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 110 (showing top): chr4q25, TGCGCANK_UNKNOWN, MODULE_255, MODULE_317, GOBP_DNA_DAMAGE_RESPONSE, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, CREB_Q3, FISCHER_DREAM_TARGETS, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, GOBP_RECOMBINATIONAL_REPAIR, NUYTTEN_EZH2_TARGETS_DN, YGCGYRCGC_UNKNOWN, MODULE_69, GOCC_SITE_OF_DOUBLE_STRAND_BREAK

GO Biological Process (4): recombinational repair (GO:0000725), double-strand break repair (GO:0006302), DNA repair (GO:0006281), DNA damage response (GO:0006974)

GO Molecular Function (9): ATP binding (GO:0005524), zinc ion binding (GO:0008270), hydrolase activity (GO:0016787), 5’-3’ DNA helicase activity (GO:0043139), nucleotide binding (GO:0000166), helicase activity (GO:0004386), protein binding (GO:0005515), isomerase activity (GO:0016853), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), site of double-strand break (GO:0035861)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
DNA repair2
catalytic activity2
DNA recombination1
DNA metabolic process1
DNA damage response1
cellular response to stress1
adenyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
transition metal ion binding1
DNA helicase activity1
nucleoside phosphate binding1
heterocyclic compound binding1
nucleic acid conformation isomerase activity1
catalytic activity, acting on a nucleic acid1
ATP-dependent activity1
binding1
cation binding1
intracellular membrane-bounded organelle1
site of DNA damage1

Protein interactions and networks

STRING

1580 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZGRF1SLC71A3PQ5VZR4542
ZGRF1ZNF280DQ6N043447
ZGRF1CCDC184Q52MB2441
ZGRF1FAM228AQ86W67431
ZGRF1RPUSD3Q6P087427
ZGRF1CHCHD5Q9BSY4417
ZGRF1PURGQ9UJV8400
ZGRF1ZC3H6P61129384
ZGRF1CCDC15Q0P6D6374
ZGRF1SERP2Q8N6R1367
ZGRF1RIMKLAQ8IXN7366
ZGRF1DTWD1Q8N5C7365
ZGRF1FANCMQ8IYD8365
ZGRF1TRMT13Q9NUP7364
ZGRF1A6NDT3A6NDT3359

IntAct

26 interactions, top by confidence:

ABTypeScore
ZGRF1BRCA1psi-mi:“MI:0914”(association)0.580
ZGRF1BRCA1psi-mi:“MI:0915”(physical association)0.580
ZGRF1BRCA1psi-mi:“MI:0403”(colocalization)0.580
ZGRF1EXO1psi-mi:“MI:0915”(physical association)0.560
ZGRF1RAD51psi-mi:“MI:0915”(physical association)0.470
RAD51ZGRF1psi-mi:“MI:2364”(proximity)0.470
MMRN1ZGRF1psi-mi:“MI:0915”(physical association)0.400
ZGRF1PDIA3psi-mi:“MI:0915”(physical association)0.400
ZGRF1FLNApsi-mi:“MI:0915”(physical association)0.400
ZGRF1POLD3psi-mi:“MI:0915”(physical association)0.400
ZGRF1POL32psi-mi:“MI:0915”(physical association)0.400
ZGRF1FANCMpsi-mi:“MI:0915”(physical association)0.400
CDKN2AZGRF1psi-mi:“MI:0915”(physical association)0.370
CFTRZGRF1psi-mi:“MI:0915”(physical association)0.370
Ppp2r1aCCHCR1psi-mi:“MI:0914”(association)0.350
KIF11ILVBLpsi-mi:“MI:0914”(association)0.350
VPS18DNAJB5psi-mi:“MI:0914”(association)0.350
PB2ESYT2psi-mi:“MI:0914”(association)0.350
PB1ESYT2psi-mi:“MI:0914”(association)0.350
PB2IPO5psi-mi:“MI:0914”(association)0.350
NEK4E2F8psi-mi:“MI:0914”(association)0.350
HSPA4HSPA8psi-mi:“MI:0914”(association)0.350
PIPRBM47psi-mi:“MI:0914”(association)0.350
PTGES3SBNO1psi-mi:“MI:0914”(association)0.350

BioGRID (34): ZGRF1 (Affinity Capture-MS), ZGRF1 (Affinity Capture-MS), ZGRF1 (Affinity Capture-MS), ZGRF1 (Two-hybrid), ZGRF1 (Affinity Capture-RNA), ZGRF1 (Proximity Label-MS), ZGRF1 (Proximity Label-MS), ZGRF1 (Proximity Label-MS), ZGRF1 (Proximity Label-MS), ZGRF1 (Proximity Label-MS), ZGRF1 (Proximity Label-MS), ZGRF1 (Proximity Label-MS), ZGRF1 (Affinity Capture-MS), ZGRF1 (Affinity Capture-MS), ZGRF1 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LI88, A4D1E1, D3Z987, D3ZUC6, E5FYH0, E5FYH1, E9Q3S4, F6ULY3, F7DF15, G3S077, G7H7V7, G7NY55, O35923, O54952, O88491, O95405, P38398, P48754, P51587, P97929, Q0VBV7, Q0VGT4, Q2M3C7, Q3V089, Q56UN5, Q5DTT3, Q5F2C3, Q5VWN6, Q61493, Q68DQ2, Q6J6I8, Q6J6I9, Q6J6J0, Q6NSW3, Q6ZP01, Q7TSY8, Q7Z570, Q80U44, Q864S8, Q864U1

Diamond homologs: A0A1L8HU22, A0KEN2, A0L2N2, A1AV29, A1BAN2, A1JHR7, A1RE25, A2C0H4, A3CYP7, A3QJA8, A4J4X3, A4STD1, A4TSD4, A5D0T6, A5UDC3, A5UI87, A5UUN1, A5VG06, A6UFF8, A6WUE9, A7FCT7, A8HA27, A8LNK8, A9BDY5, A9KW47, A9R677, A9WDC2, B0TER7, B0TN04, B0UUX0, B1JQX0, B1WTF7, B1YKA0, B2JYN6, B3Q620, B7K1T1, B7N9V3, B8CVD1, B8EDQ9, B8G9X1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 29 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.

GO biological processes:

GO termPartnersFoldFDR
protein folding521.5×8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance254
Likely benign17
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4628 predictions. Top by Δscore:

VariantEffectΔscore
4:112540120:CAAAG:Cacceptor_gain1.0000
4:112540818:AAC:Adonor_loss1.0000
4:112540819:A:Tdonor_loss1.0000
4:112540820:C:Tdonor_loss1.0000
4:112540952:CTAT:Cacceptor_gain1.0000
4:112540955:TCTGG:Tacceptor_loss1.0000
4:112540956:C:CAacceptor_loss1.0000
4:112540956:C:CCacceptor_gain1.0000
4:112547260:T:TAdonor_gain1.0000
4:112553829:TCTTA:Tdonor_loss1.0000
4:112553830:CTTAC:Cdonor_loss1.0000
4:112553831:TTA:Tdonor_loss1.0000
4:112553832:TACCT:Tdonor_loss1.0000
4:112553833:A:ATdonor_loss1.0000
4:112553834:CCTG:Cdonor_gain1.0000
4:112562483:CCA:Cacceptor_gain1.0000
4:112562484:CA:Cacceptor_gain1.0000
4:112562484:CAC:Cacceptor_gain1.0000
4:112562486:C:CCacceptor_gain1.0000
4:112563122:AATAC:Adonor_loss1.0000
4:112563123:ATACT:Adonor_loss1.0000
4:112563124:TACTC:Tdonor_loss1.0000
4:112563125:ACTCA:Adonor_loss1.0000
4:112563126:CTCAC:Cdonor_loss1.0000
4:112563127:TC:Tdonor_loss1.0000
4:112563128:CACTG:Cdonor_loss1.0000
4:112563129:A:ACdonor_gain1.0000
4:112563129:A:Tdonor_loss1.0000
4:112563130:C:CTdonor_gain1.0000
4:112563130:CT:Cdonor_gain1.0000

AlphaMissense

13972 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
4:112539890:A:GW2049R0.998
4:112539890:A:TW2049R0.998
4:112554749:T:AR1718S0.998
4:112554749:T:GR1718S0.998
4:112547298:C:GR1862P0.997
4:112558165:T:AD1702V0.997
4:112558166:C:GD1702H0.997
4:112558171:G:TA1700D0.997
4:112558287:A:CS1661R0.997
4:112558287:A:TS1661R0.997
4:112558289:T:GS1661R0.997
4:112563266:A:GW1483R0.997
4:112563266:A:TW1483R0.997
4:112539987:G:CF2016L0.996
4:112539987:G:TF2016L0.996
4:112539989:A:GF2016L0.996
4:112540047:A:CF1996L0.996
4:112540047:A:TF1996L0.996
4:112540049:A:GF1996L0.996
4:112548291:A:CS1812R0.996
4:112548291:A:TS1812R0.996
4:112548293:T:GS1812R0.996
4:112548298:T:AE1810V0.996
4:112554750:C:GR1718T0.996
4:112558156:A:GL1705P0.996
4:112558165:T:GD1702A0.996
4:112558176:A:CN1698K0.996
4:112558176:A:TN1698K0.996
4:112540052:C:GA1995P0.995
4:112547364:A:GL1840P0.995

dbSNP variants (sampled 300 via entrez): RS1000044420 (4:112559344 G>T), RS1000055225 (4:112582649 G>A), RS1000055279 (4:112576626 T>A,C), RS1000060598 (4:112609635 G>A), RS1000110981 (4:112597226 A>G), RS1000180823 (4:112573839 T>C), RS1000214452 (4:112622316 C>T), RS1000216299 (4:112567087 G>T), RS1000242687 (4:112616314 G>A,C), RS1000245552 (4:112622731 CT>C), RS10002557 (4:112617124 A>G), RS1000269817 (4:112552420 T>C), RS1000290854 (4:112548735 G>C), RS1000370136 (4:112629829 G>A,C,T), RS1000377879 (4:112622411 T>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:602081

GenCC curated gene-disease

Mondo (2): autism spectrum disorder (MONDO:0005258), childhood apraxia of speech (MONDO:0011184)

Orphanet (2): Isolated childhood apraxia of speech (Orphanet:209908), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

5 associations (top):

StudyTraitp-value
GCST002418_1Free thyroxine concentration5.000000e-06
GCST005951_145Body mass index4.000000e-08
GCST010701_20Cortical surface area (MOSTest)1.000000e-242
GCST010702_74Subcortical volume (MOSTest)2.000000e-11
GCST010703_129Brain morphology (MOSTest)3.000000e-08

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004340body mass index
EFO:0004346neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, increases expression3
perfluorooctanoic aciddecreases expression2
Benzo(a)pyrenedecreases methylation, increases expression2
Phenylmercuric Acetateaffects cotreatment, decreases expression2
aristolochic acid Idecreases expression1
TAK-243increases sumoylation1
triphenyl phosphateaffects expression1
propionaldehydedecreases expression1
bisphenol Adecreases expression1
beta-lapachonedecreases expression1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
sodium arsenitedecreases expression1
butyraldehydedecreases expression1
maleic aciddecreases expression1
perfluorooctane sulfonic aciddecreases expression1
perfluoro-n-nonanoic aciddecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
perfluorohexanesulfonic aciddecreases expression1
dorsomorphinaffects cotreatment, decreases expression1
Resveratrolaffects cotreatment, increases expression1
Sunitinibincreases expression1
Acetaminophenincreases expression1
Caffeineaffects phosphorylation1
Calcitrioldecreases expression, affects cotreatment1
Dichlorodiphenyl Dichloroethyleneincreases expression1
Doxorubicindecreases expression1
Ethyl Methanesulfonateincreases expression1
Latexincreases expression1
Leadaffects expression1
Methyl Methanesulfonateincreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00391261PHASE4COMPLETEDAn Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820PHASE4COMPLETEDFMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865PHASE4COMPLETEDA Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700PHASE4COMPLETEDMilnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200PHASE4COMPLETEDOmega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952PHASE4COMPLETEDMethylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467PHASE4COMPLETEDMultisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574PHASE4COMPLETEDNeural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629PHASE4COMPLETEDPromoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646PHASE4COMPLETEDEvaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431PHASE4COMPLETEDImproving Driving in Young People With Autism Spectrum Disorders
NCT03757585PHASE4COMPLETEDNatural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353PHASE4COMPLETEDPragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656PHASE4COMPLETEDBiomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245PHASE4UNKNOWNSafety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339PHASE4RECRUITINGAWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052PHASE4TERMINATEDA Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665PHASE4RECRUITINGThe TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697PHASE4COMPLETEDPilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804PHASE4COMPLETEDPilot RCT Using Homeopathic Medicines in ASD
NCT07439042PHASE4NOT_YET_RECRUITINGBuspirone for Anxiety in Autistic Youth
NCT01302964PHASE3COMPLETEDMirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523PHASE3TERMINATEDOpen Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798PHASE3COMPLETEDTreatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074PHASE3COMPLETEDBehavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749PHASE3COMPLETEDA Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922PHASE3COMPLETEDTreatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917PHASE3TERMINATEDA Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875PHASE3TERMINATEDMemantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156PHASE3COMPLETEDModulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153PHASE3TERMINATEDEfficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166PHASE3TERMINATEDEfficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502PHASE3WITHDRAWNEfficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756PHASE3COMPLETEDOpen-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398PHASE3COMPLETEDEffect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383PHASE3TERMINATEDAmitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493PHASE3COMPLETEDThe Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707PHASE3UNKNOWNEvaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616PHASE3COMPLETEDStudy of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210PHASE3RECRUITINGSafety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): childhood apraxia of speech