YTHDC1

gene
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Also known as YT521KIAA1966YT521-B

Summary

YTHDC1 (YTH N6-methyladenosine RNA binding protein C1, HGNC:30626) is a protein-coding gene on chromosome 4q13.2, encoding YTH domain-containing protein 1 (Q96MU7). Regulator of alternative splicing that specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs. It is a selective cancer dependency (DepMap: 42.5% of cell lines).

Enables N6-methyladenosine-containing RNA reader activity and RNA binding activity. Involved in gene expression and regulation of gene expression. Located in nuclear speck and plasma membrane.

Source: NCBI Gene 91746 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): autism spectrum disorder (Limited, GenCC)
  • GWAS associations: 2
  • Clinical variants (ClinVar): 82 total
  • Druggable target: yes — 1 molecules with ChEMBL bioactivity
  • Cancer dependency (DepMap): dependent in 42.5% of screened cell lines
  • Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
  • MANE Select transcript: NM_001031732

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30626
Approved symbolYTHDC1
NameYTH N6-methyladenosine RNA binding protein C1
Location4q13.2
Locus typegene with protein product
StatusApproved
AliasesYT521, KIAA1966, YT521-B
Ensembl geneENSG00000083896
Ensembl biotypeprotein_coding
OMIM617283
Entrez91746

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 retained_intron

ENST00000344157, ENST00000355665, ENST00000505251, ENST00000506175, ENST00000507529, ENST00000510746, ENST00000579690, ENST00000910853, ENST00000910854, ENST00000936187, ENST00000936188

RefSeq mRNA: 3 — MANE Select: NM_001031732 NM_001031732, NM_001330698, NM_133370

CCDS: CCDS33992, CCDS3522, CCDS82929

Canonical transcript exons

ENST00000344157 — 17 exons

ExonStartEnd
ENSE000009698986833702768337450
ENSE000010125486831882668318862
ENSE000010125686831631468316448
ENSE000010125806832274968322915
ENSE000010724746831869068318729
ENSE000010724766833000268330119
ENSE000010724776833330868333397
ENSE000010724796833020268330310
ENSE000010724806831851968318581
ENSE000010724826832012368320205
ENSE000010724836833210368332197
ENSE000012208256833279468332847
ENSE000013319706833757268337900
ENSE000015240986831038768314323
ENSE000035786316833828368338384
ENSE000036829906832413968324223
ENSE000038996206834972668350090

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 98.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.9570 / max 1004.7530, expressed in 1809 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
5233648.42191809
523341.4670717
523350.8686475
523320.6806325
523370.5189300

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370198.52gold quality
corpus callosumUBERON:000233698.31gold quality
sural nerveUBERON:001548897.99gold quality
left ovaryUBERON:000211997.83gold quality
ovaryUBERON:000099297.69gold quality
bone marrowUBERON:000237197.52gold quality
endometriumUBERON:000129597.50gold quality
ventricular zoneUBERON:000305397.36gold quality
right ovaryUBERON:000211897.26gold quality
right lungUBERON:000216797.10gold quality
vaginaUBERON:000099697.01gold quality
ectocervixUBERON:001224997.00gold quality
uterine cervixUBERON:000000296.98gold quality
lymph nodeUBERON:000002996.92gold quality
body of uterusUBERON:000985396.86gold quality
endocervixUBERON:000045896.85gold quality
body of pancreasUBERON:000115096.77gold quality
mucosa of stomachUBERON:000119996.71gold quality
zone of skinUBERON:000001496.66gold quality
skin of legUBERON:000151196.66gold quality
ganglionic eminenceUBERON:000402396.65gold quality
skin of abdomenUBERON:000141696.64gold quality
tibial nerveUBERON:000132396.63gold quality
minor salivary glandUBERON:000183096.47gold quality
saliva-secreting glandUBERON:000104496.44gold quality
thoracic mammary glandUBERON:000520096.37gold quality
subcutaneous adipose tissueUBERON:000219096.30gold quality
lower esophagus mucosaUBERON:003583496.21gold quality
esophagus mucosaUBERON:000246996.20gold quality
pancreasUBERON:000126496.18gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes6.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

189 targeting YTHDC1, 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-8485100.0077.574731
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-4262100.0073.263931
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-453199.9969.703181
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-569699.9872.364487
HSA-MIR-1213699.9872.815713
HSA-MIR-524-5P99.9873.434882
HSA-MIR-548N99.9871.944170
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-499A-5P99.9870.791323
HSA-MIR-4650-5P99.9864.69999
HSA-MIR-314899.9775.066478
HSA-MIR-568899.9673.234504
HSA-MIR-495-3P99.9672.814197
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-211099.9666.681930
HSA-MIR-365899.9673.874379
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 42.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

  • YT521-B has a role in a gene expression in the pathogenesis of Emery-Dreifuss muscular dystrophy (PMID:12755701)
  • phosphorylation causes sequestration of YT521-B in an insoluble nuclear form, which is unable to change splice sites (PMID:15175272)
  • Lack of YT521 protein is associated with endometrial cancer. (PMID:20686370)
  • Hypoxia induces a specific switch in YT521 expression pattern towards the two non-protein coding mRNA variants, the already characterized isoform 3 and the newly discovered exon 8-skipping isoform. (PMID:23765422)
  • Studied mRNA levels of FOXO1, KLF9 and YT521 in human normal and cancerous endometrial tissue. A remarkable (not significant, p = 0.069) increase was found in the YT521 mRNA level of patients’ endometrial tissue in comparison with the control subjects. (PMID:23865345)
  • The YTHDC1-binding sites and biochemical experiments, not only reveal the specific mode of m(6)A-YTH binding but also explain the preferential recognition of the GG(m(6)A)C sequences by YTHDC1. (PMID:25242552)
  • Results show that YTHDC1 promotes exon inclusion in targeted mRNAs through recruiting pre-mRNA splicing factor SRSF3 while blocking SRSF10 mRNA binding. (PMID:26876937)
  • Without proper localization of these processing factors it is difficult to establish a direct link between mRNA m6A methylation and mRNA splicing, although it is likely that YTHDC1 is mechanistically involved (PMID:27050931)
  • Here, the authors show that the N(6)-methyladenosine-binding protein YTHDC1 mediates export of methylated mRNA from the nucleus to the cytoplasm in HeLa cells. (PMID:28984244)
  • YTHDC1 is involved in MAT2A mRNA stability control. (PMID:29262316)
  • reader of N6-methyladenosine modification in germ cell tumors (PMID:30903744)
  • Modulation of circRNA Metabolism by m(6)A Modification. (PMID:32402287)
  • METTL3 and N6-Methyladenosine Promote Homologous Recombination-Mediated Repair of DSBs by Modulating DNA-RNA Hybrid Accumulation. (PMID:32615088)
  • Biochemical and structural basis for YTH domain of human YTHDC1 binding to methylated adenine in DNA. (PMID:32663306)
  • YTHDC1 gene polymorphisms and hepatoblastoma susceptibility in Chinese children: A seven-center case-control study. (PMID:32729171)
  • Downregulation of m(6) A reader YTHDC2 promotes tumor progression and predicts poor prognosis in non-small cell lung cancer. (PMID:32956555)
  • Atomistic and Thermodynamic Analysis of N6-Methyladenosine (m(6)A) Recognition by the Reader Domain of YTHDC1. (PMID:33472367)
  • YTHDC1 gene polymorphisms and Wilms tumor susceptibility in Chinese children: A five-center case-control study. (PMID:33737126)
  • The RNA Binding Proteins YTHDC1 and FMRP Regulate the Nuclear Export of N(6)-Methyladenosine-Modified Hepatitis B Virus Transcripts and Affect the Viral Life Cycle. (PMID:33883220)
  • N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. (PMID:34048709)
  • A critical role of nuclear m6A reader YTHDC1 in leukemogenesis by regulating MCM complex-mediated DNA replication. (PMID:34255814)
  • Enhancer RNA m6A methylation facilitates transcriptional condensate formation and gene activation. (PMID:34375583)
  • VIRMA contributes to non-small cell lung cancer progression via N(6)-methyladenosine-dependent DAPK3 post-transcriptional modification. (PMID:34520821)
  • YTHDC1 gene polymorphisms and neuroblastoma susceptibility in Chinese children. (PMID:34897032)
  • Overexpression of m6A-factors METTL3, ALKBH5, and YTHDC1 alters HPV16 mRNA splicing. (PMID:35190939)
  • Multiple Phosphorylations of SR Protein SRSF3 and Its Binding to m(6)A Reader YTHDC1 in Human Cells. (PMID:35563766)
  • YTHDC1 is downregulated by the YY1/HDAC2 complex and controls the sensitivity of ccRCC to sunitinib by targeting the ANXA1-MAPK pathway. (PMID:35974388)
  • Downregulation of the m[6]A reader protein YTHDC1 leads to islet beta-cell failure and diabetes. (PMID:36302453)
  • Chromatin-associated YTHDC1 coordinates heat-induced reprogramming of gene expression. (PMID:36516773)
  • YTHDC1 maintains trophoblasts function by promoting degradation of m6A-modified circMPP1. (PMID:36780989)
  • The Effect of N6-Methyladenosine Regulators and m6A Reader YTHDC1-Mediated N6-Methyladenosine Modification Is Involved in Oxidative Stress in Human Aortic Dissection. (PMID:36819785)
  • Reduction of mRNA m[6]A associates with glucose metabolism via YTHDC1 in human and mice. (PMID:36878322)
  • Alternative splicing of HOXB-AS3 underlie the promoting effect of nuclear m6A reader YTHDC1 on the self-renewal of leukemic stem cells in acute myeloid leukemia. (PMID:36906205)
  • N6-methyladenosine reader protein YTHDC1 regulates influenza A virus NS segment splicing and replication. (PMID:37053288)
  • YTHDC1 positively regulates PTEN expression and plays a critical role in cisplatin resistance of bladder cancer. (PMID:37070134)
  • The YTHDC1/GLUT3/RNF183 axis forms a positive feedback loop that modulates glucose metabolism and bladder cancer progression. (PMID:37258572)
  • WTAP activates MAPK signaling through m6A methylation in VEGFA mRNA-mediated by YTHDC1 to promote colorectal cancer development. (PMID:37428639)
  • Low expression of m6A reader YTHDC1 promotes progression of ovarian cancer via PIK3R1/STAT3/GANAB axis. (PMID:37781028)
  • YTHDC1-Modified m6A Methylation of Hsa_circ_0102678 Promotes Keratinocyte Inflammation Induced by Cutibacterium acnes Biofilm through Regulating miR-146a/TRAF6 and IRAK1 Axis. (PMID:37903473)
  • YTHDC1 as a tumor progression suppressor through modulating FSP1-dependent ferroptosis suppression in lung cancer. (PMID:37903990)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioythdc1ENSDARG00000051953
mus_musculusYthdc1ENSMUSG00000035851
rattus_norvegicusYthdc1ENSRNOG00000001996
drosophila_melanogasterYthdc1FBGN0027616

Paralogs (3): YTHDF1 (ENSG00000149658), YTHDF3 (ENSG00000185728), YTHDF2 (ENSG00000198492)

Protein

Protein identifiers

YTH domain-containing protein 1Q96MU7 (reviewed: Q96MU7)

Alternative names: Splicing factor YT521

All UniProt accessions (5): Q96MU7, J3KRG5, J3KRW0, J3KS01, J3QR07

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of alternative splicing that specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs. M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability. Acts as a key regulator of exon-inclusion or exon-skipping during alternative splicing via interaction with mRNA splicing factors SRSF3 and SRSF10. Specifically binds m6A-containing mRNAs and promotes recruitment of SRSF3 to its mRNA-binding elements adjacent to m6A sites, leading to exon-inclusion during alternative splicing. In contrast, interaction with SRSF3 prevents interaction with SRSF10, a splicing factor that promotes exon skipping: this prevents SRSF10 from binding to its mRNA-binding sites close to m6A-containing regions, leading to inhibit exon skipping during alternative splicing. May also regulate alternative splice site selection. Also involved in nuclear export of m6A-containing mRNAs via interaction with SRSF3: interaction with SRSF3 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export. Involved in S-adenosyl-L-methionine homeostasis by regulating expression of MAT2A transcripts, probably by binding m6A-containing MAT2A mRNAs. Also recognizes and binds m6A on other RNA molecules. Involved in random X inactivation mediated by Xist RNA: recognizes and binds m6A-containing Xist and promotes transcription repression activity of Xist. Also recognizes and binds m6A-containing single-stranded DNA. Involved in germline development: required for spermatogonial development in males and oocyte growth and maturation in females, probably via its role in alternative splicing. Independently of its N6-methyladenosine-containing RNA reader activity, it regulates PPARG stability by preventing its interaction with the E3 ubiquitin ligase ARIH2, thereby protecting it from ubiquitin-mediated proteasomal degradation and contributing to brown adipose tissue (BAT) development and energy homeostasis.

Subunit / interactions. Interacts with SRSF1. Interacts with SRSF2. Interacts with SRSF3. Interacts with SRSF7. Interacts with SRSF10. Interacts with CPSF6. Interacts with KHDRBS1/SAM68. Interacts with TRA2B. Interacts with KHDRBS3. Interacts with EMD. Interacts with RBMX. Interacts with ZCCHC8. Interacts (via its intrinsically disordered region) with PPARG; the interaction prevents PPARG from its ubiquitin-mediated proteasomal degradation.

Subcellular location. Nucleus. Nucleus speckle.

Post-translational modifications. Tyrosine phosphorylated.

Domain organisation. The YTH domain mediates RNA-binding.

Isoforms (2)

UniProt IDNamesCanonical?
Q96MU7-11yes
Q96MU7-22

RefSeq proteins (3): NP_001026902, NP_001317627, NP_588611 (=MANE)

Domains & families (InterPro)

IDNameType
IPR007275YTH_domainDomain
IPR045168YTH_protFamily

Pfam: PF04146

UniProt features (81 total): mutagenesis site 21, compositionally biased region 14, modified residue 13, strand 11, helix 8, region of interest 4, binding site 4, chain 1, domain 1, cross-link 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

108 structures, top 30 by resolution.

PDBMethodResolution (Å)
6T02X-RAY DIFFRACTION1.1
6YNPX-RAY DIFFRACTION1.1
6SZXX-RAY DIFFRACTION1.17
6WE8X-RAY DIFFRACTION1.18
6YKZX-RAY DIFFRACTION1.2
6YL0X-RAY DIFFRACTION1.2
6YNNX-RAY DIFFRACTION1.2
7P8BX-RAY DIFFRACTION1.2
7PJQX-RAY DIFFRACTION1.2
9H2UX-RAY DIFFRACTION1.21
6ZCMX-RAY DIFFRACTION1.24
9H2YX-RAY DIFFRACTION1.24
6SZ3X-RAY DIFFRACTION1.28
8Q37X-RAY DIFFRACTION1.28
9H2WX-RAY DIFFRACTION1.28
6YKIX-RAY DIFFRACTION1.3
6YNKX-RAY DIFFRACTION1.3
6YOQX-RAY DIFFRACTION1.3
7P87X-RAY DIFFRACTION1.3
8Q2QX-RAY DIFFRACTION1.3
8Q35X-RAY DIFFRACTION1.31
9H2TX-RAY DIFFRACTION1.31
8Q31X-RAY DIFFRACTION1.32
6T0XX-RAY DIFFRACTION1.36
6YNIX-RAY DIFFRACTION1.36
8Q2UX-RAY DIFFRACTION1.36
8Q4VX-RAY DIFFRACTION1.36
8Q4UX-RAY DIFFRACTION1.37
6YNOX-RAY DIFFRACTION1.4
7PJ8X-RAY DIFFRACTION1.4

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96MU7-F160.410.19

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): 361–363; 377–378; 428; 476

Post-translational modifications (14): 35, 118, 120, 146, 148, 308, 315, 317, 318, 320, 424, 435, 545, 96

Mutagenesis-validated functional residues (21):

PositionPhenotype
361does not affect ability to influence alternative splice site selection.
362does not affect ability to influence alternative splice site selection.
367abolished binding to n6-methyladenosine (m6a)-containing rnas.
377abolishes binding to n6-methyladenosine (m6a)-containing rnas. abolishes binding to m6a-containing mrnas; when associate
377abolishes rna-binding and ability to influence alternative splice site selection.
380reduced binding to n6-methyladenosine (m6a)-containing rnas.
387does not affect ability to influence alternative splice site selection.
399does not affect ability to influence alternative splice site selection.
401does not affect ability to influence alternative splice site selection.
402does not affect ability to influence alternative splice site selection.
409abolishes rna-binding and ability to influence alternative splice site selection.
411abolishes rna-binding and ability to influence alternative splice site selection.
428abolishes binding to n6-methyladenosine (m6a)-containing rnas. abolishes binding to m6a-containing mrnas; when associate
428does not affect ability to influence alternative splice site selection.
438reduced binding to n6-methyladenosine (m6a)-containing rnas.
447does not affect ability to influence alternative splice site selection.
466does not affect ability to influence alternative splice site selection.
475reduced binding affinity for n6-methyladenosine (m6a)-containing rnas by 100-fold.
475does not affect ability to influence alternative splice site selection.
475reduced binding affinity for n6-methyladenosine (m6a)-containing rnas by 9-fold.
476does not affect ability to influence alternative splice site selection.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-9930044Nuclear RNA decay

MSigDB gene sets: 274 (showing top): E2F_Q4, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, E2F4DP1_01, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GOZGIT_ESR1_TARGETS_DN, GOBP_OOGENESIS, ATGCAGT_MIR217, TAL1ALPHAE47_01, GOBP_MALE_GAMETE_GENERATION, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, chr4q13, GOBP_NUCLEAR_TRANSPORT, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION

GO Biological Process (14): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA splicing, via spliceosome (GO:0000398), in utero embryonic development (GO:0001701), mRNA splice site recognition (GO:0006376), mRNA export from nucleus (GO:0006406), spermatogenesis (GO:0007283), dosage compensation by inactivation of X chromosome (GO:0009048), post-transcriptional regulation of gene expression (GO:0010608), regulation of mRNA splicing, via spliceosome (GO:0048024), primary follicle stage (GO:0048160), brown fat cell differentiation (GO:0050873), mRNA alternative polyadenylation (GO:0110104), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (5): RNA binding (GO:0003723), mRNA binding (GO:0003729), molecular sequestering activity (GO:0140313), N6-methyladenosine-containing RNA reader activity (GO:1990247), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), plasma membrane (GO:0005886), nuclear speck (GO:0016607)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Metabolism of RNA1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
RNA processing2
RNA binding2
alternative mRNA splicing, via spliceosome1
regulation of mRNA splicing, via spliceosome1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile1
mRNA processing1
chordate embryonic development1
spliceosomal complex assembly1
protein-RNA complex assembly1
RNA export from nucleus1
gene expression1
mRNA transport1
developmental process involved in reproduction1
male gamete generation1
sex-chromosome dosage compensation1
heterochromatin formation1
regulation of gene expression1
mRNA splicing, via spliceosome1
regulation of RNA splicing1
regulation of mRNA processing1
mammalian oogenesis stage1
fat cell differentiation1
mRNA 3’-end processing1
mRNA metabolic process1
nucleic acid binding1
molecular_function1
protein-RNA adaptor activity1
binding1
intracellular membrane-bounded organelle1
nuclear lumen1
cellular anatomical structure1
membrane1
cell periphery1
nuclear ribonucleoprotein granule1

Protein interactions and networks

STRING

1846 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
YTHDC1SRSF3P23152994
YTHDC1SRSF10O75494979
YTHDC1KDM3BQ7LBC6956
YTHDC1METTL3Q86U44951
YTHDC1METTL14Q9HCE5949
YTHDC1ZC3H13Q5T200934
YTHDC1CPSF6Q16630925
YTHDC1HNRNPA2B1P22626924
YTHDC1WTAPQ15007921
YTHDC1HNRNPCP07910921
YTHDC1ALKBH5Q6P6C2918
YTHDC1NXF1Q9UBU9917
YTHDC1YTHDF1Q9BYJ9912
YTHDC1VIRMAQ69YN4909
YTHDC1IGF2BP1Q9NZI8907

IntAct

229 interactions, top by confidence:

ABTypeScore
CLK2YTHDC1psi-mi:“MI:0915”(physical association)0.780
SDCBP2YTHDC1psi-mi:“MI:0915”(physical association)0.780
YTHDC1SDCBP2psi-mi:“MI:0915”(physical association)0.780
KHDRBS3YTHDC1psi-mi:“MI:0915”(physical association)0.720
YTHDC1RBMY1Fpsi-mi:“MI:0915”(physical association)0.720
YTHDC1KHDRBS2psi-mi:“MI:0915”(physical association)0.720
YTHDC1DVL3psi-mi:“MI:0915”(physical association)0.720
RBMY1FYTHDC1psi-mi:“MI:0915”(physical association)0.720
KHDRBS2YTHDC1psi-mi:“MI:0915”(physical association)0.720
DVL3YTHDC1psi-mi:“MI:0915”(physical association)0.720
HNRNPKYTHDC1psi-mi:“MI:0915”(physical association)0.670
YTHDC1HNRNPKpsi-mi:“MI:0915”(physical association)0.670
TRA2BYTHDC1psi-mi:“MI:0915”(physical association)0.670

BioGRID (502): YTHDC1 (Two-hybrid), YTHDC1 (Two-hybrid), YTHDC1 (Two-hybrid), YTHDC1 (Two-hybrid), YTHDC1 (Two-hybrid), RBMY1F (Two-hybrid), KHDRBS2 (Two-hybrid), YTHDC1 (Affinity Capture-MS), YTHDC1 (Affinity Capture-MS), YTHDC1 (Affinity Capture-MS), YTHDC1 (Affinity Capture-MS), YTHDC1 (Affinity Capture-MS), YTHDC1 (Affinity Capture-MS), YTHDC1 (Affinity Capture-MS), SRC (Affinity Capture-Western)

ESM2 similar proteins: A2AR02, A6QLS2, B0BN49, B5DE93, D2H526, E1BB50, E9Q5K9, E9Q784, O35986, O55035, O74418, P30414, P30415, Q13427, Q14AX6, Q19QU3, Q27450, Q3KPW4, Q3MJK5, Q3UC65, Q4R626, Q4V8I5, Q4V9W2, Q505I5, Q5BKY9, Q5R580, Q5R8J6, Q5RJP9, Q5T200, Q5U2S0, Q5VTL8, Q5XHJ5, Q5ZLM8, Q6AXY7, Q6P7Y3, Q7L4I2, Q80SY5, Q8N9E0, Q8N9Q2, Q8R0F5

Diamond homologs: A0A1P8AS03, E7F1H9, E9Q5K9, F4K1Z0, G4MRQ6, P59326, Q06390, Q0VCZ3, Q3MK94, Q4R5D9, Q5RFL8, Q7Z739, Q8BYK6, Q91YT7, Q96MU7, Q9BYJ9, Q9LJE5, Q9QY02, Q9VBZ5, Q9VZQ1, Q9Y5A9, A0A9P4XWM4, A6NMK7, A9LNK9, B2RR83, P0CS64, P0CS65, Q06102, Q0DA50, Q2URI6, Q4IPA4, Q4P384, Q4WKD9, Q59T36, Q5BGN2, Q5R746, Q6BTT1, Q6C922, Q6CKU1, Q6FTL0

SIGNOR signaling

1 interactions.

AEffectBMechanism
ABL1down-regulatesYTHDC1phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 170 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:

PathwayPartnersFoldFDR
Transport of Mature Transcript to Cytoplasm931.1×2e-10
mRNA 3’-end processing1425.1×1e-14
RNA Polymerase II Transcription Termination1224.0×2e-12
Transport of Mature mRNA derived from an Intron-Containing Transcript1520.8×2e-14
Processing of Capped Intron-Containing Pre-mRNA2518.7×4e-23
mRNA Splicing1818.0×4e-16
mRNA Polyadenylation2217.6×1e-19
mRNA Splicing - Major Pathway2914.4×2e-23

GO biological processes:

GO termPartnersFoldFDR
negative regulation of mRNA splicing, via spliceosome840.6×1e-09
regulation of alternative mRNA splicing, via spliceosome1829.1×2e-19
alternative mRNA splicing, via spliceosome522.3×2e-04
positive regulation of mRNA splicing, via spliceosome621.6×3e-05
mRNA splicing, via spliceosome2515.2×9e-20
regulation of RNA splicing1014.5×2e-07
mRNA transport712.2×1e-04
mRNA export from nucleus611.8×7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance60
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2246 predictions. Top by Δscore:

VariantEffectΔscore
4:68314319:TCATG:Tacceptor_gain1.0000
4:68314320:CA:Cacceptor_gain1.0000
4:68314320:CATG:Cacceptor_gain1.0000
4:68314320:CATGC:Cacceptor_loss1.0000
4:68314321:A:Cacceptor_gain1.0000
4:68314321:ATG:Aacceptor_gain1.0000
4:68314322:TG:Tacceptor_gain1.0000
4:68314322:TGCT:Tacceptor_loss1.0000
4:68314323:GCT:Gacceptor_loss1.0000
4:68314324:C:CCacceptor_gain1.0000
4:68314324:CT:Cacceptor_loss1.0000
4:68316310:TTA:Tdonor_loss1.0000
4:68316312:A:ACdonor_gain1.0000
4:68316312:ACTAC:Adonor_loss1.0000
4:68316313:C:CAdonor_loss1.0000
4:68316313:C:CCdonor_gain1.0000
4:68316313:CT:Cdonor_gain1.0000
4:68316313:CTA:Cdonor_gain1.0000
4:68316313:CTACT:Cdonor_gain1.0000
4:68316324:T:Cdonor_gain1.0000
4:68316332:T:Cdonor_gain1.0000
4:68316444:GGGGG:Gacceptor_gain1.0000
4:68316445:GGGG:Gacceptor_gain1.0000
4:68316446:GGG:Gacceptor_gain1.0000
4:68316447:GG:Gacceptor_gain1.0000
4:68316449:C:CCacceptor_gain1.0000
4:68318522:T:Adonor_gain1.0000
4:68318582:C:CCacceptor_gain1.0000
4:68318725:ATCGT:Aacceptor_gain1.0000
4:68318726:TCGT:Tacceptor_gain1.0000

AlphaMissense

4772 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
4:68314283:G:AT667I1.000
4:68314292:A:GL664P1.000
4:68314292:A:TL664H1.000
4:68314294:G:CF663L1.000
4:68314294:G:TF663L1.000
4:68314295:A:CF663C1.000
4:68314295:A:GF663S1.000
4:68314296:A:GF663L1.000
4:68314301:T:AD661V1.000
4:68322875:A:GF492S1.000
4:68322883:A:CC489W1.000
4:68322884:C:TC489Y1.000
4:68322885:A:GC489R1.000
4:68322887:A:GL488P1.000
4:68322887:A:TL488H1.000
4:68322896:C:TG485E1.000
4:68322897:C:GG485R1.000
4:68322897:C:TG485R1.000
4:68324139:C:AQ478H1.000
4:68324139:C:GQ478H1.000
4:68324140:T:GQ478P1.000
4:68324143:C:AG477V1.000
4:68324143:C:TG477E1.000
4:68324144:C:GG477R1.000
4:68324144:C:TG477R1.000
4:68324145:A:CD476E1.000
4:68324145:A:TD476E1.000
4:68324146:T:AD476V1.000
4:68324146:T:CD476G1.000
4:68324146:T:GD476A1.000

dbSNP variants (sampled 300 via entrez): RS1000006100 (4:68320322 T>C), RS1000119963 (4:68319757 T>C), RS1000245662 (4:68313438 G>A), RS1000309499 (4:68349511 C>A), RS1000336601 (4:68327001 C>T), RS1000374832 (4:68350319 A>G), RS1000407561 (4:68350050 T>C,G), RS1000476282 (4:68322574 T>C,G), RS1000587356 (4:68315040 C>A,T), RS1000597198 (4:68311376 T>A,C), RS1000650848 (4:68310366 T>C), RS1000689306 (4:68345572 G>C), RS1000760299 (4:68351710 T>C), RS1000835298 (4:68339203 C>T), RS1000891604 (4:68344023 T>A,C)

Disease associations

OMIM: gene MIM:617283 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
autism spectrum disorderLimitedAutosomal dominant

Mondo (1): autism spectrum disorder (MONDO:0005258)

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

StudyTraitp-value
GCST001762_640Obesity-related traits3.000000e-06
GCST90002390_209Mean corpuscular hemoglobin7.000000e-10

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004527mean corpuscular hemoglobin

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5169187 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 13,237 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL51085EBSELEN313,237

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — N6-methyladenosine readers

Most potent curated ligand interactions (1 total), top 1:

LigandActionAffinityParameter
YTHDC1 inhibitor 40Binding7.31pKd

ChEMBL bioactivities

37 potent at pChembl≥5 of 52 total, top 37 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
8.13IC507.4nMCHEMBL5598203
7.53Kd29.6nMCHEMBL5598203
7.31Kd49nMCHEMBL5542345
6.84Kd146nMCHEMBL5532185
6.75IC50180nMCHEMBL5542401
6.46IC50350nMCHEMBL5542345
6.35IC50450nMCHEMBL5559384
6.34IC50460nMCHEMBL5560295
6.29IC50510nMCHEMBL5558687
6.23IC50590nMCHEMBL5557360
6.06IC50870nMCHEMBL5549847
6.02IC50960nMCHEMBL5557457
6.01IC50970nMCHEMBL5556692
6.00IC501000nMCHEMBL5527841
6.00IC501000nMCHEMBL5563936
6.00IC501000nMCHEMBL5527920
6.00IC501000nMCHEMBL5568150
5.80IC501600nMEBSELEN
5.78Kd1680nMCHEMBL5177286
5.77Kd1700nMCHEMBL5177286
5.70IC502000nMCHEMBL5532185
5.70IC502000nMCHEMBL5559318
5.70IC502000nMCHEMBL5550035
5.70IC502000nMCHEMBL5562754
5.70IC502000nMCHEMBL5560723
5.70IC502000nMCHEMBL5565834
5.70IC502000nMCHEMBL5567127
5.70IC502000nMCHEMBL5563401
5.70IC502000nMCHEMBL5558089
5.52IC503000nMCHEMBL5518138
5.52IC503000nMCHEMBL5563770
5.40IC504000nMCHEMBL5563294
5.26IC505500nMCHEMBL4436895
5.22IC506000nMCHEMBL5559146
5.10IC508000nMCHEMBL5558242
5.05IC509000nMCHEMBL5558909
5.05IC509000nMCHEMBL5558762

PubChem BioAssay actives

37 with measured affinity, of 82 total; 33 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
N-[6-(1,3-thiazol-5-yl)-3-pyridinyl]-4-[2-(trifluoromethyl)benzoyl]-1H-pyrrole-2-carboxamide2119517: Inhibition of YTHDC1 (unknown origin) by HTRF assayic500.0074uM
5-chloro-3-[(3-chlorophenyl)methyl]-N-methyl-2H-pyrazolo[4,3-d]pyrimidin-7-amine;hydrochloride2072548: Binding affinity to YTHDC1 (unknown origin) assessed as equilibrium dissociation constant by ITC analysiskd0.0490uM
5-chloro-N,3-dimethyl-2H-pyrazolo[4,3-d]pyrimidin-7-amine2072548: Binding affinity to YTHDC1 (unknown origin) assessed as equilibrium dissociation constant by ITC analysiskd0.1460uM
3-chloro-5-[[2-chloro-6-(methylamino)purin-9-yl]methyl]benzoic acid2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic500.1800uM
N-[4-chloro-2-[[2-chloro-6-(methylamino)purin-9-yl]methyl]phenyl]methanesulfonamide2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic500.4500uM
N-[2-[[2-chloro-6-(methylamino)purin-9-yl]methyl]phenyl]methanesulfonamide2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic500.4600uM
3-[[2-chloro-6-(methylamino)purin-9-yl]methyl]benzoic acid2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic500.5100uM
2-chloro-9-[(3-chloro-4-methoxyphenyl)methyl]-N-methylpurin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic500.5900uM
4-[[2-chloro-6-(methylamino)purin-9-yl]methyl]benzoic acid2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic500.8700uM
2-chloro-9-[(3-chlorophenyl)methyl]-N-methylpurin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic500.9600uM
methyl 4-[[2-chloro-6-(methylamino)purin-9-yl]methyl]benzoate2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic500.9700uM
2-chloro-N-methyl-9-[[3-(2H-tetrazol-5-yl)phenyl]methyl]purin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic501.0000uM
methyl 3-[[2-chloro-6-(methylamino)purin-9-yl]methyl]benzoate2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic501.0000uM
3-[[2-chloro-6-(methylamino)purin-9-yl]methyl]-N-methylbenzamide2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic501.0000uM
methyl 3-chloro-5-[[2-chloro-6-(methylamino)purin-9-yl]methyl]benzoate2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic501.0000uM
2-phenyl-1,2-benzoselenazol-3-one2119516: Inhibition of YTHDC1 (unknown origin)ic501.6000uM
N,3-dimethyl-2H-pyrazolo[4,3-d]pyrimidin-7-amine2072547: Binding affinity to YTHDC1 (unknown origin) assessed as dissociation constantkd1.6800uM
9-[(3-chlorophenyl)methyl]-2-fluoro-N-methylpurin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic502.0000uM
2-chloro-9-[[2-(difluoromethyl)phenyl]methyl]-N-methylpurin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic502.0000uM
3-[[2-chloro-6-(methylamino)purin-9-yl]methyl]benzamide2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic502.0000uM
[4-[[2-chloro-6-(methylamino)purin-9-yl]methyl]phenyl]methanol2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic502.0000uM
3-[[2-chloro-6-(methylamino)purin-9-yl]methyl]benzonitrile2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic502.0000uM
N-[2-[[2-chloro-6-(methylamino)purin-9-yl]methyl]phenyl]-4-methylbenzenesulfonamide2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic502.0000uM
9-[(3-bromophenyl)methyl]-2-chloro-N-methylpurin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic502.0000uM
2-chloro-9-[(3,5-dichloro-4-methoxyphenyl)methyl]-N-methylpurin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic502.0000uM
2-chloro-N-methyl-9-[[2-(trifluoromethyl)phenyl]methyl]purin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic503.0000uM
9-benzyl-2-chloro-N-methylpurin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic503.0000uM
2-chloro-9-[(3-methoxyphenyl)methyl]-N-methylpurin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic504.0000uM
4-(2-bromo-6-fluorobenzoyl)-N-pyridin-3-yl-1H-pyrrole-2-carboxamide2119516: Inhibition of YTHDC1 (unknown origin)ic505.5000uM
2-chloro-N-methyl-9-(pyridin-4-ylmethyl)purin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic506.0000uM
2-chloro-9-(cyclohexylmethyl)-N-methylpurin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic508.0000uM
2-[2-chloro-6-(methylamino)purin-9-yl]-N-phenylacetamide2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic509.0000uM
9-[(2-aminophenyl)methyl]-2-chloro-N-methylpurin-6-amine2072549: Inhibition of GST-tagged YTHDC1 (unknown origin) by HTRF assayic509.0000uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
bisphenol Adecreases expression, decreases methylation3
sodium arsenitedecreases expression, increases abundance, increases expression3
methacrylaldehydeaffects cotreatment, increases expression, increases abundance2
perfluorooctane sulfonic aciddecreases expression2
Acroleinincreases abundance, affects cotreatment, increases expression2
Arsenicincreases expression, increases abundance2
Ozoneaffects cotreatment, increases expression, increases abundance2
Tobacco Smoke Pollutionincreases expression2
Valproic Aciddecreases expression2
GSK-J4increases expression1
FR900359affects phosphorylation1
TAK-243decreases sumoylation1
2,4,6-tribromophenolincreases expression1
alpha-pineneincreases abundance, affects cotreatment, increases expression1
2-methyl-4-isothiazolin-3-oneincreases expression1
arseniteaffects binding, decreases reaction1
perfluorooctanoic aciddecreases expression1
potassium chromate(VI)affects cotreatment, increases expression1
coumarinincreases phosphorylation1
cadmium sulfateincreases expression1
epigallocatechin gallateaffects cotreatment, increases expression1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridinedecreases expression1
di-n-butylphosphoric acidaffects expression1
perfluoro-n-nonanoic aciddecreases expression1
K 7174increases expression1
perfluorohexanesulfonic aciddecreases expression1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)increases expression1
jinfukangaffects cotreatment, decreases expression1
Arsenic Trioxideincreases expression1
Vorinostatdecreases expression1

ChEMBL screening assays

13 unique, capped per target: 13 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5149945BindingBinding affinity to GST-tagged YTHDC1 m6A-reader domain (unknown origin) assessed as residual signal level using RRACH-containing methylated oligoRNA at 1 mM incubated for 3 hrs by HTRF assayFragment Ligands of the m6A-RNA Reader YTHDF2. — ACS Med Chem Lett

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