DDX11

Summary

DDX11 (DEAD/H-box helicase 11, HGNC:2736) is a protein-coding gene on chromosome 12p11.21, encoding ATP-dependent DNA helicase DDX11 (Q96FC9). DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis.

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 1663 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Warsaw breakage syndrome (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 15
• Clinical variants (ClinVar): 851 total — 16 pathogenic, 33 likely-pathogenic
• Phenotypes (HPO): 26
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_030653

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2736
Approved symbol	DDX11
Name	DEAD/H-box helicase 11
Location	12p11.21
Locus type	gene with protein product
Status	Approved
Aliases	ChlR1, KRG-2, CHL1, WABS
Ensembl gene	ENSG00000013573
Ensembl biotype	protein_coding
OMIM	601150
Entrez	1663

Gene structure

Transcript identifiers

Ensembl transcripts: 54 — 33 protein_coding, 11 retained_intron, 8 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000228264, ENST00000350437, ENST00000415475, ENST00000435753, ENST00000438391, ENST00000535158, ENST00000535317, ENST00000536265, ENST00000536580, ENST00000537136, ENST00000538345, ENST00000538740, ENST00000539049, ENST00000539673, ENST00000539699, ENST00000539702, ENST00000540935, ENST00000542129, ENST00000542242, ENST00000542244, ENST00000542661, ENST00000542777, ENST00000542838, ENST00000543026, ENST00000543511, ENST00000543756, ENST00000544652, ENST00000545115, ENST00000545668, ENST00000545717, ENST00000879106, ENST00000879107, ENST00000879108, ENST00000919947, ENST00000919948, ENST00000919949, ENST00000919950, ENST00000919951, ENST00000919952, ENST00000919953, ENST00000919954, ENST00000919955, ENST00000919956, ENST00000919957, ENST00000919958, ENST00000919959, ENST00000919960, ENST00000919961, ENST00000919962, ENST00000919963, ENST00000919964, ENST00000950083, ENST00000950084, ENST00000950085

RefSeq mRNA: 19 — MANE Select: NM_030653 NM_001257144, NM_001257145, NM_001413692, NM_001413693, NM_001413694, NM_001413695, NM_001413696, NM_001413697, NM_001413698, NM_001413699, NM_001413700, NM_001413702, NM_001413703, NM_001413704, NM_001413705, NM_001413706, NM_004399, NM_030653, NM_152438

CCDS: CCDS41767, CCDS44856, CCDS58224, CCDS8721

Canonical transcript exons

ENST00000542838 — 27 exons

Exon	Start	End
ENSE00002283855	31073860	31074091
ENSE00002293320	31103807	31104799
ENSE00003458341	31089886	31090094
ENSE00003471402	31089403	31089490
ENSE00003476272	31078390	31078537
ENSE00003489880	31087938	31087983
ENSE00003495554	31097885	31097997
ENSE00003527874	31096859	31096990
ENSE00003533319	31091719	31091871
ENSE00003540248	31101027	31101130
ENSE00003560330	31102243	31102311
ENSE00003572512	31093245	31093324
ENSE00003574114	31103317	31103395
ENSE00003581331	31083813	31084061
ENSE00003584535	31094590	31094634
ENSE00003590875	31096637	31096745
ENSE00003603262	31096341	31096379
ENSE00003612190	31084583	31084669
ENSE00003627401	31102427	31102527
ENSE00003633928	31084969	31085126
ENSE00003641802	31100635	31100707
ENSE00003643536	31102936	31103020
ENSE00003661556	31089044	31089151
ENSE00003665208	31094755	31094822
ENSE00003678034	31103577	31103731
ENSE00003683606	31101833	31101982
ENSE00003691503	31092846	31092892

Expression profiles

Bgee: expression breadth ubiquitous, 201 present calls, max score 95.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.5755 / max 88.0971, expressed in 1415 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
124925	4.9900	1355
124926	0.5855	331

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	95.33	gold quality
mucosa of transverse colon	UBERON:0004991	95.24	gold quality
body of pancreas	UBERON:0001150	94.81	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.49	gold quality
left ovary	UBERON:0002119	94.40	gold quality
body of uterus	UBERON:0009853	93.80	gold quality
right ovary	UBERON:0002118	93.61	gold quality
apex of heart	UBERON:0002098	93.48	gold quality
lymph node	UBERON:0000029	93.27	gold quality
left testis	UBERON:0004533	93.26	gold quality
transverse colon	UBERON:0001157	93.06	gold quality
ventricular zone	UBERON:0003053	93.03	gold quality
spleen	UBERON:0002106	92.91	gold quality
skin of abdomen	UBERON:0001416	92.84	gold quality
right testis	UBERON:0004534	92.77	gold quality
small intestine	UBERON:0002108	92.75	gold quality
adenohypophysis	UBERON:0002196	92.54	gold quality
thymus	UBERON:0002370	92.52	silver quality
metanephros cortex	UBERON:0010533	92.47	gold quality
colonic epithelium	UBERON:0000397	92.46	gold quality
rectum	UBERON:0001052	92.38	gold quality
granulocyte	CL:0000094	92.35	gold quality
skin of leg	UBERON:0001511	92.33	gold quality
body of stomach	UBERON:0001161	92.25	gold quality
ectocervix	UBERON:0012249	92.14	gold quality
endocervix	UBERON:0000458	92.12	gold quality
nerve	UBERON:0001021	92.08	gold quality
tibial nerve	UBERON:0001323	92.08	gold quality
minor salivary gland	UBERON:0001830	92.00	gold quality
esophagus mucosa	UBERON:0002469	91.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.45

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4, E2F6, MYC, ZNF699

miRNA regulators (miRDB)

46 targeting DDX11, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-5000-3P	98.79	65.63	1251
HSA-MIR-330-5P	98.73	67.63	1788
HSA-MIR-4646-3P	98.65	66.98	693
HSA-MIR-6731-3P	98.61	67.86	749
HSA-MIR-216B-3P	98.55	67.19	1223
HSA-MIR-518C-5P	98.53	69.20	1640

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 36)

• We present preliminary analysis of a strong candidate gene in the region, the DNA helicase DDX11. In conclusion, we report mapping of the first locus that determines mean telomere length in humans. (PMID:15520935)
• human ChlR1 is required for sister chromatid cohesion and, hence, normal mitotic progression. (PMID:17105772)
• These studies provide compelling evidence that ChlR1 association is required for loading the papillomavirus E2 protein onto mitotic chromosomes and represents a kinetochore-independent mechanism for viral genome maintenance and segregation. (PMID:17189189)
• hChlR1 has a role in the establishment of sister chromatid cohesion, with Ctf18-RFC and Fen1 (PMID:18499658)
• Timeless associates with the cohesion-promoting DNA helicase ChlR1, which, when overexpressed, partially alleviates the cohesion defect of cells depleted of Timeless-Tipin. (PMID:20124417)
• These data provide evidence that the association of bovine papillomavirus E2 with human ChlR1 contributes to a loading mechanism during DNA replication rather than direct tethering during mitotic division. (PMID:21489590)
• The ChlR1 is involved in the proper formation of heterochromatin, which in turn contributes to global nuclear organization and pleiotropic effects. (PMID:21854770)
• Wild-type ChlR1 required a minimal 5’ single-stranded DNA tail of 15 nucleotides to efficiently unwind a simple duplex DNA substrate. (PMID:22102414)
• The results identify novel roles of Ddx11 during embryo morphogenesis and demonstrate that the activity of its motif V is essential for DDX11 function. (PMID:22678773)
• Data indicate a homozygous mutation (c.788G>A [p.R263Q]) in DDX11 in three affected siblings with severe intellectual disability and many of the congenital abnormalities reported in the Warsaw breakage syndrome (WABS) original case. (PMID:23033317)
• helicase DDX11 is expressed at high levels in primary and metastatic melanoma, and that interfering with its expression leads to severe chromosome segregation defects, telomere shortening, and massive melanoma cell apoptosis. (PMID:23116066)
• ChlR1 plays a critically important role in cellular replication and/or DNA repair. [review] (PMID:24487782)
• A distinct triplex DNA unwinding activity of ChlR1 helicase. (PMID:25561740)
• In this study, we found that cohesion establishment factors, like CHlR1, cooperatively stimulate endonuclease activity of hFen1 in in vivo mimic condition, including replication protein-A-coated DNA and high salt. (PMID:26032365)
• our results indicate that DDX11 functions as a positive regulator of rRNA transcription and provides a novel insight into the pathogenesis of WABS. (PMID:26089203)
• Q Motif Is Involved in DNA Binding but Not ATP Binding in ChlR1 Helicase (PMID:26474416)
• DDX11 and Tim proteins physically and functionally interact and act in concert to preserve replication fork progression in perturbed conditions. (PMID:26503245)
• A mutation has been identified in HPV16 E2 that abrogates interaction with ChlR1, and it was shown that ChlR1 regulates the chromatin association of HPV16 E2 and that this virus-host interaction is essential for viral episome maintenance. (PMID:27795438)
• We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11 (PMID:28960803)
• DDX11 orchestrates jointly with 9-1-1 and its loader, RAD17, DNA damage tolerance at sites of bulky lesions, and endogenous abasic sites. These functions may explain the essential roles of DDX11 and its similarity with 9-1-1 during development. (PMID:30061412)
• Results indicate a role for the DDX11-Timeless interaction in coordinating DNA replication with sister chromatid cohesion, and suggest implications for understanding the molecular basis of Warsaw breakage syndrome (WABS). (PMID:30303954)
• The DDX11-AS1 may be a novel oncogene in hepatocarcinogenesis by repressing LATS2, providing a potential therapeutic target for hepatocellular carcinoma treatment. (PMID:31097223)
• DDX11, ESCO1 and ESCO2 control different fractions of cohesin that are spatially and mechanistically separated. (PMID:31935221)
• Final rescue tests in vitro and in vivo further elucidated that DDX11 overexpression could reversed the DDX11-AS1 downregulation-mediated effect on osteosarcoma progression (PMID:32014424)
• The iron-sulfur helicase DDX11 promotes the generation of single-stranded DNA for CHK1 activation. (PMID:32071282)
• The long non-coding RNA DDX11-AS1 facilitates cell progression and oxaliplatin resistance via regulating miR-326/IRS1 axis in gastric cancer. (PMID:32271422)
• E2F1 mediated DDX11 transcriptional activation promotes hepatocellular carcinoma progression through PI3K/AKT/mTOR pathway. (PMID:32332880)
• DDX11-AS1exacerbates bladder cancer progression by enhancing CDK6 expression via suppressing miR-499b-5p. (PMID:32422563)
• Timeless couples G-quadruplex detection with processing by DDX11 helicase during DNA replication. (PMID:32705708)
• LncRNA DDX11-AS1: a novel oncogene in human cancer. (PMID:32772230)
• Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion. (PMID:32855419)
• Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations. (PMID:33591602)
• Expression of DDX11 and DNM1L at the 12p11 Locus Modulates Systemic Lupus Erythematosus Susceptibility. (PMID:34299244)
• Mutations in DEAD/H-box helicase 11 correlate with increased relapse risk in adults with acute myeloid leukaemia with normal cytogenetics. (PMID:37993668)
• Mapping of DDX11 genetic interactions defines sister chromatid cohesion as the major dependency. (PMID:38478595)
• DEAD/H-box helicase 11 is transcriptionally activated by Yin Yang-1 and accelerates oral squamous cell carcinoma progression. (PMID:39090819)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ddx11	ENSDARG00000011072
mus_musculus	Ddx11	ENSMUSG00000035842
rattus_norvegicus	Ddx11	ENSRNOG00000051528
drosophila_melanogaster	CG11403	FBGN0026876
caenorhabditis_elegans		WBGENE00010839

Paralogs (3): ERCC2 (ENSG00000104884), BRIP1 (ENSG00000136492), RTEL1 (ENSG00000258366)

Protein

Protein identifiers

ATP-dependent DNA helicase DDX11 — Q96FC9 (reviewed: Q96FC9)

Alternative names: CHL1-related protein 1, DEAD/H-box protein 11, DNA 5’-3’ helicase DDX11, Keratinocyte growth factor-regulated gene 2 protein

All UniProt accessions (13): Q96FC9, B4DMS8, C9K0E8, F5GXJ8, F5GXL6, F5GYY1, F5H235, F5H2V9, F6WZM0, H0YFY8, H0YGL4, H0YGX9, R4GNE1

UniProt curated annotations — full annotation on UniProt →

Function. DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis. Its double-stranded DNA helicase activity requires either a minimal 5’-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5’ to 3’ direction. The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities. Also shows ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules. Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage. Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity. Also cooperates with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation. Stimulates 5’-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis. Its ability to function at DNA replication fork is modulated by its binding to long non-coding RNA (lncRNA) cohesion regulator non-coding RNA DDX11-AS1/CONCR, which is able to increase both DDX11 ATPase activity and binding to DNA replicating regions. Also plays a role in heterochromatin organization. Involved in rRNA transcription activation through binding to active hypomethylated rDNA gene loci by recruiting UBTF and the RNA polymerase Pol I transcriptional machinery. Plays a role in embryonic development and prevention of aneuploidy. Involved in melanoma cell proliferation and survival. Associates with chromatin at DNA replication fork regions. Binds to single- and double-stranded DNAs. (Microbial infection) Required for bovine papillomavirus type 1 regulatory protein E2 loading onto mitotic chromosomes during DNA replication for the viral genome to be maintained and segregated.

Subunit / interactions. Associates with the CTF18-RFC complex. Associates with a cohesin complex composed of RAD21, SMC1 proteins and SMC3. Interacts with CHTF18. Interacts with DSCC1. Interacts with FEN1; this interaction is direct and increases flap endonuclease activity of FEN1. Interacts with PCNA. Interacts with POLR1A and UBTF. Interacts with RAD21, SMC1 proteins and SMC3. Interacts with RFC2. Interacts with TIMELESS; this interaction increases recruitment of both proteins onto chromatin in response to replication stress induction by hydroxyurea. (Microbial infection) Interacts with bovine papillomavirus type 1 regulatory protein E2; this interaction stimulates the recruitment of E2 onto mitotic chromosomes.

Subcellular location. Nucleus. Nucleolus. Cytoplasm. Cytoskeleton. Spindle pole. Midbody. Microtubule organizing center. Centrosome Chromosome.

Tissue specificity. Expressed in melanoma cells. Not detected in epidermal melanocytes of normal skin (at protein level). Highly expressed in spleen, B-cells, thymus, testis, ovary, small intestine and pancreas. Very low expression seen in brain. Expressed in dividing cells and/or cells undergoing high levels of recombination. No expression detected in cells signaled to terminally differentiate. Expressed weakly in keratinocytes.

Disease relevance. Warsaw breakage syndrome (WBRS) [MIM:613398] A syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. ATPase activity is stimulated by high magnesium salt levels (up to a 0.1 M), and potassium salts (glutamate, chloride or acetate) are more effective than the corresponding sodium salts. ATPase activity is enhanced by the long non-coding RNA (lncRNA) cohesion regulator noncoding RNA (CONCR). Double-stranded DNA helicase activity is maximal with magnesium ions at low concentrations (0.5-1 mM) whereas is markedly inhibited at higher levels (5 mM and above). Double-stranded DNA helicase activity is stimulated by 25-50 mM potassium acetate, stimulated to a lesser extent by 25 mM of ammonium acetate, and markedly inhibited by sodium acetate.

Cofactor. Both helicase and DNA-dependent ATPase activities are maximal in the presence of Mg(2+); Mn(2+) and Ca(2+) but not Zn(2+) will substitute in vitro. Binds 1 [4Fe-4S] cluster.

Induction. Up-regulated by serum (at protein level). Up-regulated by fibroblast growth factor FGF7. Expressed in keratinocyte growth factor-stimulated cells but not in EGF and IL1-beta-treated keratinocytes. Up-regulated with progression from noninvasive to invasive melanoma.

Similarity. Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily.

Isoforms (5)

UniProt ID	Names	Canonical?
Q96FC9-1	1	yes
Q96FC9-2	2
Q96FC9-3	3
Q96FC9-4	4
Q96FC9-5	5

RefSeq proteins (19): NP_001244073, NP_001244074, NP_001400621, NP_001400622, NP_001400623, NP_001400624, NP_001400625, NP_001400626, NP_001400627, NP_001400628, NP_001400629, NP_001400631, NP_001400632, NP_001400633, NP_001400634, NP_001400635, NP_004390, NP_085911, NP_689651 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006554	Helicase-like_DEXD_c2	Domain
IPR006555	ATP-dep_Helicase_C	Domain
IPR010614	RAD3-like_helicase_DEAD	Domain
IPR013020	Rad3/Chl1-like	Family
IPR014013	Helic_SF1/SF2_ATP-bd_DinG/Rad3	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR045028	DinG/Rad3-like	Family

Pfam: PF06733, PF13307

Enzyme classification (BRENDA):

• EC 3.6.4.12 — DNA helicase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)
• EC 3.6.4.13 — RNA helicase (BRENDA: 3 organisms, 3 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (28 total): sequence variant 8, splice variant 6, binding site 5, region of interest 2, mutagenesis site 2, chain 1, domain 1, modified residue 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96FC9-F1	71.77	0.36

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 (5): 350; 44–51; 267; 285; 315

Post-translational modifications (1): 262

Mutagenesis-validated functional residues (2):

Position	Phenotype
50	loss of both dna-dependent atpase and atp-dependent helicase activities, still binds atp.
897	loss of atp-dependent dna helicase and dna-dependent atpase activities, loss of dna-binding, still binds atp.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-381038	XBP1(S) activates chaperone genes

MSigDB gene sets: 606 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, MORF_RAGE, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, TGGTGCT_MIR29A_MIR29B_MIR29C, RNGTGGGC_UNKNOWN, GOBP_CHROMOSOME_ORGANIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, HORIUCHI_WTAP_TARGETS_DN, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, WANG_CLIM2_TARGETS_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_REGULATION_OF_PROTEIN_BINDING, GOBP_COGNITION

GO Biological Process (16): DNA repair (GO:0006281), DNA damage response (GO:0006974), sister chromatid cohesion (GO:0007062), replication fork processing (GO:0031297), negative regulation of protein binding (GO:0032091), establishment of sister chromatid cohesion (GO:0034085), positive regulation of chromatin binding (GO:0035563), positive regulation of sister chromatid cohesion (GO:0045876), cellular response to hydroxyurea (GO:0072711), cellular response to cisplatin (GO:0072719), positive regulation of transcription of nucleolar large rRNA by RNA polymerase I (GO:1901838), cellular response to bleomycin (GO:1904976), nucleolar chromatin organization (GO:1990700), positive regulation of double-strand break repair (GO:2000781), nucleobase-containing compound metabolic process (GO:0006139), DNA replication (GO:0006260)

GO Molecular Function (26): DNA binding (GO:0003677), DNA helicase activity (GO:0003678), chromatin binding (GO:0003682), DNA replication origin binding (GO:0003688), double-stranded DNA binding (GO:0003690), single-stranded DNA binding (GO:0003697), single-stranded RNA binding (GO:0003727), helicase activity (GO:0004386), ATP binding (GO:0005524), ATP-dependent activity, acting on DNA (GO:0008094), ATP-dependent activity, acting on RNA (GO:0008186), ATP hydrolysis activity (GO:0016887), 5’-3’ DNA helicase activity (GO:0043139), triplex DNA binding (GO:0045142), metal ion binding (GO:0046872), 4 iron, 4 sulfur cluster binding (GO:0051539), G-quadruplex DNA binding (GO:0051880), catalytic activity, acting on a nucleic acid (GO:0140640), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818), isomerase activity (GO:0016853), iron-sulfur cluster binding (GO:0051536)

GO Cellular Component (11): chromatin (GO:0000785), spindle pole (GO:0000922), nucleoplasm (GO:0005654), nucleolus (GO:0005730), centrosome (GO:0005813), midbody (GO:0030496), extracellular exosome (GO:0070062), nucleus (GO:0005634), chromosome (GO:0005694), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
IRE1alpha activates chaperones	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
DNA binding	4
ATP-dependent activity	4
intracellular membraneless organelle	3
DNA metabolic process	2
cell cycle process	2
sister chromatid cohesion	2
cellular response to nitrogen compound	2
binding	2
nuclear lumen	2
DNA damage response	1
cellular response to stress	1
chromosome organization	1
DNA-templated DNA replication maintenance of fidelity	1
protein binding	1
regulation of protein binding	1
negative regulation of binding	1
chromatin binding	1
positive regulation of binding	1
regulation of sister chromatid cohesion	1
positive regulation of cell cycle process	1
positive regulation of chromosome organization	1
response to hydroxyurea	1
cellular response to chemical stimulus	1
response to cisplatin	1
nucleolar large rRNA transcription by RNA polymerase I	1
positive regulation of transcription by RNA polymerase I	1
regulation of transcription of nucleolar large rRNA by RNA polymerase I	1
cellular response to oxygen-containing compound	1
response to bleomycin	1
chromatin organization	1
nucleolus organization	1
double-strand break repair	1
positive regulation of DNA repair	1
regulation of double-strand break repair	1
primary metabolic process	1
DNA biosynthetic process	1
nucleic acid binding	1
helicase activity	1
ATP-dependent activity, acting on DNA	1

Protein interactions and networks

STRING

1948 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DDX11	TIMELESS	Q9UNS1	937
DDX11	WDHD1	O75717	872
DDX11	BICD1	Q96G01	853
DDX11	BRD4	O60885	772
DDX11	CELF4	Q9BZC1	768
DDX11	FEN1	P39748	711
DDX11	CHTF18	Q8WVB6	691
DDX11	ESCO2	Q56NI9	690
DDX11	DHX8	Q14562	679
DDX11	TIPIN	Q9BVW5	666
DDX11	NIPBL	Q6KC79	653
DDX11	SMC3	Q9UQE7	646
DDX11	ESCO1	Q5FWF5	644
DDX11	CHTF8	P0CG13	640
DDX11	PIK3C3	Q8NEB9	639

IntAct

48 interactions, top by confidence:

A	B	Type	Score
TOMM22	XRCC3	psi-mi:“MI:0914”(association)	0.640
DDX11	FUZ	psi-mi:“MI:0915”(physical association)	0.560
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
YBEY	NME4	psi-mi:“MI:0914”(association)	0.530
SKP2	DPYSL4	psi-mi:“MI:0914”(association)	0.530
IARS2	GAK	psi-mi:“MI:0914”(association)	0.530
KBTBD4	KPNA5	psi-mi:“MI:0914”(association)	0.530
PLAUR	XRCC3	psi-mi:“MI:0914”(association)	0.530
DDX11	DNAJA2	psi-mi:“MI:0914”(association)	0.530
AZIN2	OAZ2	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
DDX11	ATP5F1B	psi-mi:“MI:0915”(physical association)	0.400
TIMELESS	DDX11	psi-mi:“MI:0915”(physical association)	0.400
PCNA	DDX11	psi-mi:“MI:0915”(physical association)	0.400
M		psi-mi:“MI:0914”(association)	0.350
PRKACB	MYL1	psi-mi:“MI:0914”(association)	0.350
FKBP5	IFT56	psi-mi:“MI:0914”(association)	0.350
PPP4R1L	IFT56	psi-mi:“MI:0914”(association)	0.350
PCDHA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
TENT5A	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CDH23	GTPBP10	psi-mi:“MI:0914”(association)	0.350
EFNB1	KRBA1	psi-mi:“MI:0914”(association)	0.350
ATXN7L1	USP27X	psi-mi:“MI:0914”(association)	0.350
ZNF174	FAM171A2	psi-mi:“MI:0914”(association)	0.350
THBS3	APBB1	psi-mi:“MI:0914”(association)	0.350
HHIPL1	CDC7	psi-mi:“MI:0914”(association)	0.350
AVIL	DCTN6	psi-mi:“MI:0914”(association)	0.350
PRPS2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
SLURP1	MANBA	psi-mi:“MI:0914”(association)	0.350
VCPIP1	USP9Y	psi-mi:“MI:0914”(association)	0.350

BioGRID (100): DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), DDX11 (Co-fractionation), DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), DDX11 (Affinity Capture-MS)

ESM2 similar proteins: A0JP70, A1XQU1, A5LHX3, O14976, O23712, O24361, O35955, O43304, O55234, O95248, O95382, O95398, P28062, P28063, P28064, P28072, P28074, P28075, P30656, P34065, P40306, P51656, P51657, P54265, P70195, Q09013, Q0P595, Q2TBP0, Q32KL2, Q3MHN0, Q3T0T1, Q3T112, Q4KM35, Q54BC8, Q5R8S2, Q5W416, Q60692, Q6NYX6, Q6ZPG2, Q7DLS1

Diamond homologs: A1CJ34, A1D8E4, A2QY22, A3LN13, A5DNW6, A5DUW8, A6ZWN8, A7ERG1, A7TTL0, A7UXD4, A8MPP1, F1R345, O14147, P22516, Q1E5T3, Q21489, Q2U587, Q4WWE9, Q5AD67, Q6AXC6, Q6BZD9, Q6CAX3, Q6CIF0, Q6FKT4, Q750G3, Q92771, Q96FC9, Q4JC68

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	16
Likely pathogenic	33
Uncertain significance	506
Likely benign	136
Benign	67

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1031443	NM_030653.4(DDX11):c.1482+2T>C	Pathogenic
1032230	NM_030653.4(DDX11):c.2373-2A>G	Pathogenic
145577	GRCh38/hg38 3p26.3(chr3:52266-868393)x3	Pathogenic
1699047	NM_030653.4(DDX11):c.1862dup (p.Thr622fs)	Pathogenic
252749	NM_030653.4(DDX11):c.1763-1G>C	Pathogenic
3764734	NM_030653.4(DDX11):c.2209C>T (p.Gln737Ter)	Pathogenic
3765539	NM_030653.4(DDX11):c.2457+1G>A	Pathogenic
3900635	NC_000012.12:g.31073186_31074821del	Pathogenic
4535702	NM_030653.4(DDX11):c.442C>T (p.Gln148Ter)	Pathogenic
4535704	NM_030653.4(DDX11):c.2047C>T (p.Gln683Ter)	Pathogenic
4798384	NC_000012.12:g.31087936AG[1]	Pathogenic
562685	GRCh37/hg19 3p26.3-26.1(chr3:61891-4098164)x1	Pathogenic
638411	NM_030653.4(DDX11):c.2457+1G>T	Pathogenic
8369	NM_030653.4(DDX11):c.2271+2T>C	Pathogenic
8370	NM_030653.4(DDX11):c.2689_2691del (p.Lys897del)	Pathogenic
915422	NM_030653.4(DDX11):c.2017G>T (p.Glu673Ter)	Pathogenic
1028896	NM_030653.4(DDX11):c.2537-1G>A	Likely pathogenic
1194119	NM_030653.4(DDX11):c.2638dup (p.Ala880fs)	Likely pathogenic
150610	GRCh38/hg38 3p26.3-26.2(chr3:32241-3355776)x1	Likely pathogenic
253369	GRCh37/hg19 3p26.3-26.2(chr3:270649-3927005)x1	Likely pathogenic
2637847	NM_030653.4(DDX11):c.792+1G>A	Likely pathogenic
3382073	NM_030653.4(DDX11):c.782del (p.Gly261fs)	Likely pathogenic
3382659	NM_030653.4(DDX11):c.418C>T (p.Arg140Ter)	Likely pathogenic
3574550	NM_030653.4(DDX11):c.393+2T>C	Likely pathogenic
3574551	NM_030653.4(DDX11):c.394-2_394-1del	Likely pathogenic
3574552	NM_030653.4(DDX11):c.412_434dup (p.Gln146fs)	Likely pathogenic
3574554	NM_030653.4(DDX11):c.846dup (p.Asp283fs)	Likely pathogenic
3574555	NM_030653.4(DDX11):c.907_923del (p.Lys303fs)	Likely pathogenic
3574556	NM_030653.4(DDX11):c.930_942dup (p.Cys315fs)	Likely pathogenic
3574557	NM_030653.4(DDX11):c.1090-2A>G	Likely pathogenic

SpliceAI

5188 predictions. Top by Δscore:

Variant	Effect	Δscore
12:31083809:GCA:G	acceptor_loss	1.0000
12:31083811:A:AG	acceptor_gain	1.0000
12:31083811:A:AT	acceptor_loss	1.0000
12:31083811:AG:A	acceptor_gain	1.0000
12:31083811:AGG:A	acceptor_gain	1.0000
12:31083812:G:A	acceptor_loss	1.0000
12:31083812:G:GT	acceptor_gain	1.0000
12:31083812:GG:G	acceptor_gain	1.0000
12:31083812:GGG:G	acceptor_gain	1.0000
12:31083812:GGGGA:G	acceptor_gain	1.0000
12:31084061:GGT:G	donor_loss	1.0000
12:31084578:TGTA:T	acceptor_loss	1.0000
12:31084581:A:AG	acceptor_gain	1.0000
12:31084581:AGGC:A	acceptor_gain	1.0000
12:31084582:G:GC	acceptor_gain	1.0000
12:31084582:GGCG:G	acceptor_gain	1.0000
12:31084651:G:GG	donor_gain	1.0000
12:31084665:GCCTG:G	donor_gain	1.0000
12:31084670:G:GG	donor_gain	1.0000
12:31084671:T:G	donor_loss	1.0000
12:31084672:G:GT	donor_loss	1.0000
12:31084958:C:G	acceptor_gain	1.0000
12:31084968:GA:G	acceptor_gain	1.0000
12:31085123:GCAG:G	donor_gain	1.0000
12:31087930:A:AG	acceptor_gain	1.0000
12:31087931:C:G	acceptor_gain	1.0000
12:31089039:GCTA:G	acceptor_loss	1.0000
12:31089040:CTA:C	acceptor_loss	1.0000
12:31089041:TA:T	acceptor_loss	1.0000
12:31089042:A:AG	acceptor_gain	1.0000

AlphaMissense

5929 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:31078523:A:C	S44R	0.999
12:31078525:T:A	S44R	0.999
12:31078525:T:G	S44R	0.999
12:31091810:A:T	E394V	0.999
12:31083825:A:C	S53R	0.998
12:31083827:T:A	S53R	0.998
12:31083827:T:G	S53R	0.998
12:31089056:A:C	S233R	0.998
12:31089058:T:A	S233R	0.998
12:31089058:T:G	S233R	0.998
12:31102493:A:C	S780R	0.998
12:31102495:T:A	S780R	0.998
12:31102495:T:G	S780R	0.998
12:31083813:G:T	G49W	0.997
12:31083814:G:A	G49E	0.997
12:31091810:A:C	E394A	0.997
12:31101896:T:C	F706L	0.997
12:31101898:C:A	F706L	0.997
12:31101898:C:G	F706L	0.997
12:31102509:T:C	F785S	0.997
12:31078533:G:A	G47D	0.996
12:31083814:G:T	G49V	0.996
12:31083817:A:T	K50M	0.996
12:31083818:G:C	K50N	0.996
12:31083818:G:T	K50N	0.996
12:31083820:C:T	S51F	0.996
12:31101893:T:C	C705R	0.996
12:31102499:G:A	G782R	0.996
12:31102499:G:C	G782R	0.996
12:31078462:G:C	Q23H	0.995

dbSNP variants (sampled 300 via entrez): RS1000268641 (12:31080112 G>A), RS1000321215 (12:31079156 T>C), RS1000479727 (12:31085777 G>A,C), RS1000654853 (12:31077902 A>G), RS1000804208 (12:31090972 C>A,G), RS1000836755 (12:31090608 C>T), RS1001036793 (12:31096950 T>G), RS1001192519 (12:31097401 C>T), RS1001219061 (12:31084370 T>A,G), RS1001263878 (12:31103091 G>A,T), RS1001464794 (12:31096721 A>C,T), RS1001599350 (12:31074686 C>T), RS1001673438 (12:31080729 T>C), RS1001988863 (12:31073457 C>T), RS1002120919 (12:31080417 C>G)

Disease associations

OMIM: gene MIM:601150 | disease phenotypes: MIM:613398, MIM:209850

GenCC curated gene-disease

Disease	Classification	Inheritance
Warsaw breakage syndrome	Definitive	Autosomal recessive
partial deletion of the short arm of chromosome 3	Limited	Autosomal dominant
neurodevelopmental disorder	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Warsaw breakage syndrome	Definitive	AR

Mondo (6): Warsaw breakage syndrome (MONDO:0013252), primary ovarian failure (MONDO:0005387), autism (MONDO:0005260), microcephaly (MONDO:0001149), partial deletion of the short arm of chromosome 3 (MONDO:0016885), neurodevelopmental disorder (MONDO:0700092)

Orphanet (2): Warsaw breakage syndrome (Orphanet:280558), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

26 total (27 of 26 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000154	Wide mouth
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000274	Small face
HP:0000286	Epicanthus
HP:0000340	Sloping forehead
HP:0000341	Narrow forehead
HP:0000365	Hearing impairment
HP:0000378	Cupped ear
HP:0000588	Optic disc coloboma
HP:0000954	Single transverse palmar crease
HP:0000965	Cutis marmorata
HP:0001034	Hypermelanotic macule
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001290	Generalized hypotonia
HP:0001511	Intrauterine growth retardation
HP:0001629	Ventricular septal defect
HP:0001636	Tetralogy of Fallot
HP:0003577	Congenital onset
HP:0004209	Clinodactyly of the 5th finger
HP:0004691	2-3 toe syndactyly
HP:0008586	Hypoplasia of the cochlea
HP:0008897	Postnatal growth retardation
HP:0000717	Autism

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST000635_14	Response to statin therapy	9.000000e-07
GCST000635_29	Response to statin therapy	8.000000e-06
GCST000938_1	Adolescent idiopathic scoliosis	8.000000e-07
GCST001099_3	Sudden cardiac arrest	6.000000e-06
GCST001308_11	Response to anti-depressant treatment in major depressive disorder	2.000000e-06
GCST001526_10	Fasting blood insulin (BMI interaction)	7.000000e-09
GCST001762_226	Obesity-related traits	4.000000e-06
GCST001762_556	Obesity-related traits	1.000000e-06
GCST005236_5	Problematic alcohol use in trauma-exposed individuals	1.000000e-06
GCST006153_1	Parkinsonism in frontotemporal lobe dementia	4.000000e-06
GCST006585_1076	Blood protein levels	7.000000e-13
GCST006585_239	Blood protein levels	8.000000e-14
GCST006988_83	Blond vs. brown/black hair color	5.000000e-08
GCST007325_248	General risk tolerance (MTAG)	2.000000e-09
GCST007325_41	General risk tolerance (MTAG)	5.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004278	sudden cardiac arrest
EFO:0006321	antidepressant-induced dizziness
EFO:0004340	body mass index
EFO:0004736	aspartate aminotransferase measurement
EFO:0008483	response to trauma exposure
EFO:0009458	alcohol use disorder measurement
EFO:0003924	hair color
EFO:0008579	risk-taking behaviour

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D065886	Neurodevelopmental Disorders	F03.625
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1516338	CHL1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
bisphenol A	affects cotreatment, decreases expression	2
Arsenic	increases expression, affects methylation, affects cotreatment, increases abundance	2
Aflatoxin B1	decreases methylation	2
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
titanium dioxide	increases expression	1
trichostatin A	decreases expression	1
beta-lapachone	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
sulindac sulfide	decreases expression	1
benzo(e)pyrene	decreases methylation	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluoro-n-nonanoic acid	increases expression	1
perfluorohexanesulfonic acid	increases expression	1
trans-10,cis-12-conjugated linoleic acid	decreases expression	1
abrine	increases expression	1
jinfukang	increases expression	1
Bortezomib	decreases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Amphotericin B	increases expression	1
Benzo(a)pyrene	increases expression	1
Calcitriol	affects cotreatment, decreases expression	1
Coumestrol	increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XX29	VU1149+SV40+DDX11	Transformed cell line

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments