XRCC6

Summary

XRCC6 (X-ray repair cross complementing 6, HGNC:4055) is a protein-coding gene on chromosome 22q13.2, encoding DNA repair protein Ku70 (P12956). DNA-binding protein critical for the DNA damage response, specifically in repairing double-strand breaks (DSBs) via the classical non-homologous end joining (NHEJ) pathway. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).

The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus.

Source: NCBI Gene 2547 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autism spectrum disorder (Limited, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 66 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_001469

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4055
Approved symbol	XRCC6
Name	X-ray repair cross complementing 6
Location	22q13.2
Locus type	gene with protein product
Status	Approved
Aliases	D22S731, D22S671, KU70, ML8
Ensembl gene	ENSG00000196419
Ensembl biotype	protein_coding
OMIM	152690
Entrez	2547

Gene structure

Transcript identifiers

Ensembl transcripts: 38 — 36 protein_coding, 2 retained_intron

ENST00000359308, ENST00000360079, ENST00000402580, ENST00000405506, ENST00000405878, ENST00000428575, ENST00000464116, ENST00000478914, ENST00000892842, ENST00000892843, ENST00000892844, ENST00000892845, ENST00000892846, ENST00000892847, ENST00000892848, ENST00000892849, ENST00000892850, ENST00000892851, ENST00000892852, ENST00000892853, ENST00000938028, ENST00000938029, ENST00000938030, ENST00000938031, ENST00000938032, ENST00000938033, ENST00000938034, ENST00000938035, ENST00000938036, ENST00000938037, ENST00000938038, ENST00000938039, ENST00000938040, ENST00000938041, ENST00000970532, ENST00000970533, ENST00000970534, ENST00000970535

RefSeq mRNA: 4 — MANE Select: NM_001469 NM_001288976, NM_001288977, NM_001288978, NM_001469

CCDS: CCDS14021, CCDS74870, CCDS74871

Canonical transcript exons

ENST00000360079 — 13 exons

Exon	Start	End
ENSE00000656031	41628118	41628230
ENSE00000656053	41637608	41637791
ENSE00000656057	41646896	41647082
ENSE00000656076	41656903	41657032
ENSE00000656094	41661331	41661444
ENSE00000880476	41650723	41650891
ENSE00000880477	41653529	41653690
ENSE00001413063	41621295	41621345
ENSE00003514519	41621990	41622086
ENSE00003672517	41658252	41658352
ENSE00003726832	41636113	41636251
ENSE00003750806	41636516	41636770
ENSE00003901044	41663622	41664041

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 169.6383 / max 6138.2634, expressed in 1825 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
192491	164.4579	1825
192490	2.8243	1320
192495	1.5333	881
209488	0.3160	99
192494	0.2765	127
192492	0.1174	33
192493	0.1130	41

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	99.37	gold quality
left testis	UBERON:0004533	99.34	gold quality
ventricular zone	UBERON:0003053	99.22	gold quality
islet of Langerhans	UBERON:0000006	99.18	gold quality
embryo	UBERON:0000922	99.14	gold quality
ganglionic eminence	UBERON:0004023	99.14	gold quality
calcaneal tendon	UBERON:0003701	99.06	gold quality
testis	UBERON:0000473	99.05	gold quality
adult organism	UBERON:0007023	99.04	gold quality
adrenal tissue	UBERON:0018303	98.85	gold quality
right adrenal gland	UBERON:0001233	98.79	gold quality
thymus	UBERON:0002370	98.74	gold quality
type B pancreatic cell	CL:0000169	98.73	gold quality
right adrenal gland cortex	UBERON:0035827	98.73	gold quality
smooth muscle tissue	UBERON:0001135	98.72	gold quality
left adrenal gland	UBERON:0001234	98.70	gold quality
left adrenal gland cortex	UBERON:0035825	98.65	gold quality
left uterine tube	UBERON:0001303	98.64	gold quality
adrenal gland	UBERON:0002369	98.64	gold quality
lymph node	UBERON:0000029	98.63	gold quality
rectum	UBERON:0001052	98.62	gold quality
ectocervix	UBERON:0012249	98.62	gold quality
adrenal cortex	UBERON:0001235	98.61	gold quality
vermiform appendix	UBERON:0001154	98.60	gold quality
cortical plate	UBERON:0005343	98.60	gold quality
skin of leg	UBERON:0001511	98.59	gold quality
endocervix	UBERON:0000458	98.58	gold quality
right ovary	UBERON:0002118	98.58	gold quality
ovary	UBERON:0000992	98.56	gold quality
caecum	UBERON:0001153	98.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-95	no	274.71
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
CD40	Unknown
ERBB2	Unknown
VIM

Upstream regulators (CollecTRI, top): NKX3-1, PRDM1

miRNA regulators (miRDB)

17 targeting XRCC6, 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-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-6507-3P	99.35	67.32	1059
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-506-5P	98.02	67.41	1065
HSA-MIR-892B	98.00	67.11	821
HSA-MIR-5088-5P	97.97	64.28	487
HSA-MIR-7109-3P	94.23	67.19	743

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 40)

• Studies on the mode of Ku interaction with DNA (PMID:11796732)
• binding with inositol hexakisphosphate (PMID:11821378)
• regulates osteocalcin gene expression (PMID:12145306)
• Ku heterodimer binds to both ends of the Werner protein and functional interaction occurs at the Werner N-terminus (PMID:12177300)
• role of expression in NF-kappaB activation and COX-2 expression (PMID:12324457)
• Ku associates with hTERT, and this interaction may function to regulate the access of telomerase to telomeric DNA ends (PMID:12377759)
• Transcripts of Ku70 and Ku86 genes were detected by RT-PCR and Ku protein was localized in the nucleus of neutrophils as a heterodimer (PMID:12467650)
• In naevus cell naevi, significant correlations were found between Ku70/80 gene expression and some ploidy-related parameters. (PMID:12494870)
• The mechanism that regulates for nuclear localization of Ku70 and Ku80 appears to play, at least in part, a key role in regulating the physiological function of Ku in vivo. (PMID:12518983)
• Coordinated assembly of Ku and p460 subunits of the DNA-dependent protein kinase on DNA ends is necessary for XRCC4-ligase IV recruitment (PMID:12547193)
• This antigen acts as the transcription factor induced by interleukins (IL)-13 and -4 leading to induction of 15-lipoxygenase (15-LO) in human cells. (PMID:12664628)
• This autoantigen is induced by a divergence in intracellular signaling between IL-4 and IL-13. (PMID:12664629)
• DNA repair proteins Ku70 and Ku80 expression is lost in cell nucleus after oxidative stress (PMID:12867423)
• Ku antigen interacts with RBP-Jkappa and NF-kappaB p50 may act as a positive regulator of p50 expression in gastric cancer AGS cells. (PMID:14570916)
• DNA-PK can be activated by nucleosomes through the ability of Ku to bind to the ends of nucleosomal DNA, and that the activated DNA-PK is capable of phosphorylating H2AX within the nucleosomes (PMID:14627815)
• (ADP-ribosyl)ation of Ku70/80 reduces the ability of this factor to stimulate WRN exonuclease, suggesting that covalent modification of Ku70/80 by PARP-1 may play a role in the regulation of the exonucleolytic activity of WRN. (PMID:14734561)
• Expression of both genes was down-regulated as melanoma progressed. In situ hybridization demonstrated more Ku70- and Ku80-positive cells than immunohistochemical methods, but the correlation between the two methods was highly significant (P <0.01). (PMID:14991539)
• cell-surface Ku functions as an adhesion receptor for fibronectin; both Ku70 and Ku80 present a structural relationship with integrin I (or A) domains and the A1 and A3 domains of von Willebrand factor, domains known to be involved in Fn binding (PMID:15019772)
• activity of ESE-1 is positively and negatively modulated by other interacting proteins including Ku70, Ku86, p300, and CBP. (PMID:15075319)
• Results show that Ku70/Ku80 and DNA-dependent protein kinase catalytic subunit (DNA-PKcs) modulate RAG-mediated cleavage during V(D)J recombination. (PMID:15123719)
• DNA-binding component of human OF-1 (which binds Herpes simplex virus type 1 origin of replication) contains Ku70 and Ku80 proteins (PMID:15220460)
• Histone gamma-H2AX promotes binding of nuclear DNA helicase II to transcriptionally stalled sites on chromosomal DNA. (PMID:15613478)
• Ku70/80 interacts directly with the RNA component of human telomerase, independent of the human telomerase reverse transcriptase protein. (PMID:15824061)
• Ku70 has a role in human cancer cell sensitization to radiation and etoposide treatments (PMID:15827325)
• The level of Ku70 in the cytoplasm was decreased, but that of Bax in mitochondria was increased by justicidin A in colorectal cancer cells. (PMID:15905197)
• Ku70 is a receptor for the rickettsial protein rOmpB. Bacterial internalization is dependent on the presence of cholesterol-enriched microdomains containing Ku70. (PMID:16360032)
• Ku70 has other antiapoptotic functions in Granzyme A (GzmA)-induced cell death, which are blocked when GzmA proteolyses Ku70 (PMID:16440001)
• The present study suggests that Ku binds IRES -(internal ribosomal entry site)elements within RNA molecules, and that Ku plays a role in the modulation of IRES- mediated mRNA translation. (PMID:16448389)
• Dimeric particles are observed in which two DNA-PKcs/Ku70/Ku80 holoenzymes interact through the N-terminal HEAT repeats. (PMID:16713581)
• Ku-mediated assembly of DNA-PK on DNA ends is responsible for a dissociation of the DNA-PKcs.Artemis complex. (PMID:16857680)
• Functions in nonhomologous DNA end joining. (PMID:17124166)
• The three-dimensional structure of the human full-length Ku70-Ku80 dimer at 25 A resolution, alone and in complex with DNA, by using single-particle electron microscopy was reconstructed. (PMID:17159921)
• poly(ADP-ribose)polymerase-1 and Ku70/Ku80 are transcriptional regulators of S100A9 gene expression (PMID:17187679)
• maintenance of higher expression of Ku70 and Mre11 may be responsible for keeping longer life span observed in the longevity group (PMID:17202845)
• SIRT1 modulates DNA repair activity, which could be regulated by the acetylation status of repair protein Ku70 following DNA damage (PMID:17334224)
• Ku70 protein plays an important role in repair of DNA DSB (double-strand breaks) damage and for maintainance of genome stability. (PMID:17479409)
• These data support a new role for Ku in the migration of monocytes into tissues, which depends on a tightly regulated pathway of intracellular redistribution. (PMID:17496833)
• TrkA signaling appears to be proapoptotic in the absence of Ku70. (PMID:17617666)
• potential relevance of Bin1-Ku interaction to cancer are discussed in light of these findings (PMID:17671430)
• Genes encoding KU70, MGST1 and BIK show age-related mRNA expression levels in hematopoietic stem cells. (PMID:17714764)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	xrcc6	ENSDARG00000071551
mus_musculus	Xrcc6	ENSMUSG00000022471
rattus_norvegicus	Xrcc6	ENSRNOG00000006392
drosophila_melanogaster	Irbp	FBGN0011774
drosophila_melanogaster	EndoGI	FBGN0028515
caenorhabditis_elegans		WBGENE00000519

Paralogs (1): XRCC5 (ENSG00000079246)

Protein

Protein identifiers

DNA repair protein Ku70 — P12956 (reviewed: P12956)

Alternative names: 5’-deoxyribose-5-phosphate lyase Ku70, 70 kDa subunit of Ku antigen, ATP-dependent DNA helicase 2 subunit 1, ATP-dependent DNA helicase II 70 kDa subunit, CTC box-binding factor 75 kDa subunit, DNA repair protein XRCC6, Lupus Ku autoantigen protein p70, Thyroid-lupus autoantigen, X-ray repair complementing defective repair in Chinese hamster cells 6, X-ray repair cross-complementing protein 6

All UniProt accessions (2): B1AHC9, P12956

UniProt curated annotations — full annotation on UniProt →

Function. DNA-binding protein critical for the DNA damage response, specifically in repairing double-strand breaks (DSBs) via the classical non-homologous end joining (NHEJ) pathway. It forms a heterodimer with XRCC5 (Ku80), creating the Ku70:Ku80 heterodimer (Ku complex), which serves as a DNA end-binding complex. It primarily binds DSBs and recruits essential repair factors, assembling the core long-range NHEJ complex to facilitate the alignment and ligation of broken DNA ends. This pathway ensures the rapid repair of cytotoxic and mutagenic DSBs and contributes to the generation of diversity in T-cell receptors and antibodies through mechanisms such as V(D)J recombination. Likely acts as a 5’-deoxyribose-5-phosphate lyase (5’-dRP lyase), catalyzing the beta-elimination of the 5’-deoxyribose-5-phosphate at abasic sites near DSBs. This activity cleans the termini of abasic sites, a common form of nucleotide damage, preparing broken ends for ligation. It may also possess 3’-5’ DNA helicase activity, although this has not been confirmed in vivo, and its physiological significance remains unclear. Beyond DNA repair, the protein contributes to telomere maintenance. It is also implicated in transcriptional regulation, acting as a cofactor for various transcription factors. It plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway. Can also bind RNAs and recruits PRKDC to a wide range of cellular RNAs, including the U3 small nucleolar RNA, playing a role in the biogenesis of ribosomal RNAs. Additionally, it negatively regulates apoptosis by interacting with BAX, sequestering it from the mitochondria, and may possess deubiquitination activity targeting BAX.

Subunit / interactions. Forms a heterodimer with XRCC5/Ku80 to form the Ku70:Ku80 complex (Ku); heterodimerization stabilizes XRCC5 protein. Component of the core long-range non-homologous end joining (NHEJ) complex (also named DNA-PK complex) composed of PRKDC, LIG4, XRCC4, XRCC6/Ku70, XRCC5/Ku86 and NHEJ1/XLF. Additional component of the NHEJ complex includes PAXX. Following autophosphorylation, PRKDC dissociates from DNA, leading to formation of the short-range NHEJ complex, composed of LIG4, XRCC4, XRCC6/Ku70, XRCC5/Ku86 and NHEJ1/XLF. The XRCC5-XRCC6 dimer also associates with NAA15, and this complex binds to the osteocalcin promoter and activates osteocalcin expression. In addition, XRCC6 interacts with the osteoblast-specific transcription factors MSX2, RUNX2 and DLX5. Interacts with ELF3. Interacts with ATP23. The XRCC5-XRRC6 dimer associates in a DNA-dependent manner with APEX1. Binds to CDK9 isoform 2. Identified in a complex with DEAF1 and XRCC5. Interacts with DEAF1 (via the SAND domain); the interaction is direct and may be inhibited by DNA-binding. Interacts with CLU. Interacts with NR4A3; the DNA-dependent protein kinase complex DNA-PK phosphorylates and activates NR4A3 and prevents NR4A3 ubiquitinylation and degradation. Interacts with CYREN isoform 1 (CYREN-1) and isoform 4 (CYREN-2) (via KBM motif). Interacts (via N-terminus) with HSF1 (via N-terminus); this interaction is direct and prevents XRCC5/XRCC6 heterodimeric binding and non-homologous end joining (NHEJ) repair activities induced by ionizing radiation (IR). Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA. Interacts with HMBOX1. Interacts with ATF7; involved in ATF7 lolcaization to telomeres. Interacts with APLF (via KBM motif). Interacts with WRN (via KBM motif). The XRCC5-XRCC6 dimer associates with ALKBH2. Interacts with TPRN; TPRN interacts with a number of DNA damage response proteins, is recruited to sites of DNA damage and may play a role in DNA damage repair. When not acetylated, interacts with BAX. Interacts with ERCC6L2. (Microbial infection) Interacts with human T-cell leukemia virus 1/HTLV-1 protein HBZ.

Subcellular location. Nucleus. Chromosome. Cytoplasm.

Post-translational modifications. Phosphorylation by PRKDC may enhance helicase activity. Phosphorylation of Ser-51 does not affect DNA repair. ADP-ribosylated by PARP3. Methylation by SETD4 leads to accumulation in the cytoplasm and is a prerequisite for acetylation, possibly due to the change of subcellular from the nucleus to the cytosol initiated by methylation, acetylation occurring in the cytosol. Acetylation can be catalyzed in vitro by CREBBP/CBP and KAT2B/PCAF.

Induction. In osteoblasts, by FGF2.

Miscellaneous. Individuals with systemic lupus erythematosus (SLE) and related disorders produce extremely large amounts of autoantibodies to XRCC5 and XRCC6. Existence of a major autoantigenic epitope or epitopes on the C-terminal 190 amino acids of XRCC6 containing the leucine repeat. The majority of autoantibodies to XRCC6 in most sera from patients with SLE seem to be reactive with this region.

Similarity. Belongs to the ku70 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P12956-1	1	yes
P12956-2	2

RefSeq proteins (4): NP_001275905, NP_001275906, NP_001275907, NP_001460* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003034	SAP_dom	Domain
IPR005160	Ku_C	Domain
IPR005161	Ku_N	Domain
IPR006164	DNA_bd_Ku70/Ku80	Domain
IPR006165	Ku70	Family
IPR016194	SPOC-like_C_dom_sf	Homologous_superfamily
IPR027388	Ku70_bridge/pillars_dom_sf	Homologous_superfamily
IPR036361	SAP_dom_sf	Homologous_superfamily
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR047087	KU70_core_dom	Domain

Pfam: PF02037, PF02735, PF03730, PF03731

Catalyzed reactions (Rhea), 2 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
• 2’-deoxyribonucleotide-(2’-deoxyribose 5’-phosphate)-2’-deoxyribonucleotide-DNA = a 3’-end 2’-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5’-phosphate)-DNA + a 5’-end 5’-phospho-2’-deoxyribonucleoside-DNA + H(+) (RHEA:66592)

UniProt features (109 total): strand 27, modified residue 22, helix 20, mutagenesis site 12, region of interest 6, sequence conflict 6, turn 6, cross-link 3, domain 2, initiator methionine 1, chain 1, compositionally biased region 1, active site 1, splice variant 1

Structure

Experimental structures (PDB)

59 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8AG4	ELECTRON MICROSCOPY	2.46
1JEY	X-RAY DIFFRACTION	2.5
3RZX	X-RAY DIFFRACTION	2.61
7ZYG	ELECTRON MICROSCOPY	2.68
1JEQ	X-RAY DIFFRACTION	2.7
7ZVT	ELECTRON MICROSCOPY	2.74
6ERH	X-RAY DIFFRACTION	2.8
7ZWA	ELECTRON MICROSCOPY	2.8
9CQ3	ELECTRON MICROSCOPY	2.8
9GYF	ELECTRON MICROSCOPY	2.8
9N81	ELECTRON MICROSCOPY	2.8
6ERG	X-RAY DIFFRACTION	2.9
7Z87	ELECTRON MICROSCOPY	2.91
9Q8X	ELECTRON MICROSCOPY	2.94
8ASC	X-RAY DIFFRACTION	2.95
7SGL	ELECTRON MICROSCOPY	3
6ERF	X-RAY DIFFRACTION	3.01
9CQ6	ELECTRON MICROSCOPY	3.1
9N83	ELECTRON MICROSCOPY	3.1
7AXZ	ELECTRON MICROSCOPY	3.2
7SU3	ELECTRON MICROSCOPY	3.3
9N82	ELECTRON MICROSCOPY	3.3
9IGW	ELECTRON MICROSCOPY	3.32
7Z88	ELECTRON MICROSCOPY	3.33
9HZG	ELECTRON MICROSCOPY	3.33
9Q80	ELECTRON MICROSCOPY	3.39
9CQC	ELECTRON MICROSCOPY	3.4
9IOL	ELECTRON MICROSCOPY	3.46
8AG5	ELECTRON MICROSCOPY	3.47
7ZT6	ELECTRON MICROSCOPY	3.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12956-F1	84.43	0.58

Functional residue map

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

Catalytic / active sites (1): 31 (schiff-base intermediate with dna; for 5’-deoxyribose-5-phosphate lyase activity)

Post-translational modifications (25): 2, 2, 6, 27, 31, 51, 306, 317, 331, 338, 455, 461, 477, 520, 539, 542, 544, 550, 553, 556 …

Mutagenesis-validated functional residues (12):

Position	Phenotype
31	diminishes the ability to form a schiff base. abolishes adduct formation; when associated with a-160 and a-164.
160	abolishes adduct formation; when associated with a-31 and a-160.
164	abolishes adduct formation; when associated with a-31 and a-164.
539	complete loss of suppression of bax-induced apoptosis.
539	no effect on suppression of bax-induced apoptosis.
542	complete loss of suppression of bax-induced apoptosis.
542	no effect on suppression of bax-induced apoptosis.
544	no effect on suppression of bax-induced apoptosis.
553	partial loss of suppression of bax-induced apoptosis.
553	no effect on suppression of bax-induced apoptosis.
556	no effect on suppression of bax-induced apoptosis.
570	loss of methylation; loss of anti-apoptotic activity; no effect on xrcc5 stabilization.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-164843	2-LTR circle formation
R-HSA-1834949	Cytosolic sensors of pathogen-associated DNA
R-HSA-3270619	IRF3-mediated induction of type I IFN
R-HSA-5693571	Nonhomologous End-Joining (NHEJ)
R-HSA-6798695	Neutrophil degranulation

MSigDB gene sets: 0 (showing top):

GO Biological Process (22): telomere maintenance (GO:0000723), recombinational repair (GO:0000725), activation of innate immune response (GO:0002218), double-strand break repair via nonhomologous end joining (GO:0006303), innate immune response (GO:0045087), positive regulation of lymphocyte differentiation (GO:0045621), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of smooth muscle cell proliferation (GO:0048660), cellular hyperosmotic salinity response (GO:0071475), cellular response to gamma radiation (GO:0071480), cellular response to X-ray (GO:0071481), double-strand break repair via classical nonhomologous end joining (GO:0097680), immune system process (GO:0002376), positive regulation of immune system process (GO:0002684), DNA repair (GO:0006281), DNA recombination (GO:0006310), DNA damage response (GO:0006974), response to ionizing radiation (GO:0010212), negative regulation of macromolecule biosynthetic process (GO:0010558), positive regulation of protein kinase activity (GO:0045860)

GO Molecular Function (22): transcription cis-regulatory region binding (GO:0000976), DNA binding (GO:0003677), DNA helicase activity (GO:0003678), damaged DNA binding (GO:0003684), RNA binding (GO:0003723), ATP binding (GO:0005524), ATP-dependent activity, acting on DNA (GO:0008094), ATP hydrolysis activity (GO:0016887), cyclin binding (GO:0030332), telomeric repeat DNA binding (GO:0042162), protein-containing complex binding (GO:0044877), 5’-deoxyribose-5-phosphate lyase activity (GO:0051575), scaffold protein binding (GO:0097110), nucleotide binding (GO:0000166), double-stranded DNA binding (GO:0003690), double-stranded telomeric DNA binding (GO:0003691), catalytic activity (GO:0003824), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787), lyase activity (GO:0016829), DNA end binding (GO:0045027)

GO Cellular Component (19): chromosome, telomeric region (GO:0000781), nuclear telomere cap complex (GO:0000783), extracellular region (GO:0005576), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), nucleolus (GO:0005730), cytosol (GO:0005829), DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958), membrane (GO:0016020), protein-containing complex (GO:0032991), protein-DNA complex (GO:0032993), secretory granule lumen (GO:0034774), Ku70:Ku80 complex (GO:0043564), DNA-dependent protein kinase complex (GO:0070418), nonhomologous end joining complex (GO:0070419), ficolin-1-rich granule lumen (GO:1904813), chromosome (GO:0005694), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Innate Immune System	2
Integration of provirus	1
STING mediated induction of host immune responses	1
DNA Double-Strand Break Repair	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
nuclear protein-containing complex	4
DNA metabolic process	3
ATP-dependent activity	3
DNA-templated transcription	2
regulation of DNA-templated transcription	2
cellular response to ionizing radiation	2
nucleic acid binding	2
DNA binding	2
catalytic activity, acting on DNA	2
protein binding	2
binding	2
nuclear lumen	2
protein-containing complex	2
intracellular membraneless organelle	2
telomere organization	1
DNA repair	1
DNA recombination	1
activation of immune response	1
positive regulation of innate immune response	1
double-strand break repair	1
immune response	1
defense response to symbiont	1
lymphocyte differentiation	1
regulation of lymphocyte differentiation	1
positive regulation of lymphocyte activation	1
positive regulation of leukocyte differentiation	1
negative regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
regulation of cell population proliferation	1
smooth muscle cell proliferation	1
hyperosmotic salinity response	1
cellular response to salt stress	1
cellular hyperosmotic response	1
response to gamma radiation	1
response to X-ray	1
double-strand break repair via nonhomologous end joining	1

Protein interactions and networks

STRING

3866 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
XRCC6	PRKDC	P78527	999
XRCC6	XRCC5	P13010	999
XRCC6	XRCC4	Q13426	999
XRCC6	NHEJ1	Q9H9Q4	994
XRCC6	PARP1	P09874	983
XRCC6	WRN	Q14191	982
XRCC6	LIG4	P49917	982
XRCC6	PAXX	Q9BUH6	977
XRCC6	LIG3	P49916	970
XRCC6	HOXB7	P09629	961
XRCC6	ATM	Q13315	931
XRCC6	XRCC1	P18887	914
XRCC6	CYREN	Q9BWK5	905
XRCC6	BRCA1	P38398	902
XRCC6	RAD51	Q06609	902

IntAct

572 interactions, top by confidence:

A	B	Type	Score
XRCC6	XRCC5	psi-mi:“MI:0914”(association)	0.970
XRCC5	XRCC6	psi-mi:“MI:0914”(association)	0.970
XRCC5	XRCC6	psi-mi:“MI:0915”(physical association)	0.970
XRCC6	XRCC5	psi-mi:“MI:0915”(physical association)	0.970
PRKDC	XRCC6	psi-mi:“MI:0915”(physical association)	0.900
PRKDC	XRCC6	psi-mi:“MI:0217”(phosphorylation reaction)	0.900
PARP1	XRCC6	psi-mi:“MI:0914”(association)	0.850
XRCC6	PARP1	psi-mi:“MI:0914”(association)	0.850
RARA	NCOR1	psi-mi:“MI:0914”(association)	0.800
H3C1	HAT1	psi-mi:“MI:0914”(association)	0.770
H2AZ1	ZNHIT1	psi-mi:“MI:0914”(association)	0.770
RECQL	PARP1	psi-mi:“MI:0914”(association)	0.750
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
TPT1	XRCC6	psi-mi:“MI:0915”(physical association)	0.710
TPT1	XRCC6	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
XRCC6	HTT	psi-mi:“MI:0915”(physical association)	0.700

BioGRID (1534): XRCC6 (Affinity Capture-MS), XRCC6 (Reconstituted Complex), XRCC6 (Reconstituted Complex), XRCC6 (Affinity Capture-Western), XRCC6 (Affinity Capture-RNA), XRCC6 (Affinity Capture-RNA), XRCC6 (Affinity Capture-RNA), XRCC6 (Affinity Capture-RNA), XRCC5 (Reconstituted Complex), PPARG (Affinity Capture-Western), XRCC6 (Affinity Capture-Western), XRCC6 (Affinity Capture-MS), XRCC6 (Affinity Capture-MS), XRCC6 (Affinity Capture-MS), XRCC6 (Affinity Capture-MS)

ESM2 similar proteins: A2RV18, B5DG51, B8APQ0, D3ZG52, D3ZVK1, E9PY46, I0IUP3, O35654, O48520, O89043, O93257, O93610, P12956, P23475, P33611, P47823, P49004, P49005, Q10QS7, Q13144, Q14181, Q28DV7, Q38899, Q4V7D6, Q566Y1, Q58D13, Q5EBA1, Q5F310, Q5RGJ5, Q63615, Q6AXC6, Q6AXY4, Q6GM65, Q6TH47, Q7ZYP6, Q803A6, Q80YD1, Q8AVL0, Q8C0P5, Q8GWT4

Diamond homologs: O93257, P0CO51, P12956, P23475, Q1DU75, Q26228, Q2MHH4, Q54MA9, Q7F1M0, Q9FQ08, P0CO50, Q0U5F2, Q2MHH3, Q5AVC7, O94395, Q2H0I3, Q6CCK2, Q7SA95

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
XRCC6	up-regulates	PRKDC	relocalization
XRCC6	“form complex”	DNA-PK	binding
XRCC6	“up-regulates activity”	UBE2S	relocalization
ATM	“up-regulates activity”	XRCC6	phosphorylation
PRKDC	“up-regulates activity”	XRCC6	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 119 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:

Pathway	Partners	Fold	FDR
Nonhomologous End-Joining (NHEJ)	7	14.5×	3e-04
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	6	10.8×	2e-03
G2/M DNA damage checkpoint	7	10.4×	1e-03
DNA Damage/Telomere Stress Induced Senescence	5	10.1×	6e-03
Transcriptional regulation of granulopoiesis	6	9.3×	3e-03
B-WICH complex positively regulates rRNA expression	6	9.0×	3e-03
RNA Polymerase I Promoter Escape	6	9.0×	3e-03
Processing of DNA double-strand break ends	6	8.5×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
double-strand break repair via nonhomologous end joining	7	28.1×	3e-06
telomere maintenance	7	17.8×	3e-05
intrinsic apoptotic signaling pathway	5	17.1×	1e-03
double-strand break repair	8	15.5×	1e-05
cellular response to UV	5	14.1×	2e-03
heterochromatin formation	5	12.2×	3e-03
DNA damage response	16	8.2×	1e-07
regulation of cell cycle	9	6.4×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1687 predictions. Top by Δscore:

Variant	Effect	Δscore
22:41621345:GGT:G	donor_loss	1.0000
22:41621988:A:AG	acceptor_gain	1.0000
22:41621989:G:GG	acceptor_gain	1.0000
22:41621989:GT:G	acceptor_gain	1.0000
22:41628117:GGA:G	acceptor_gain	1.0000
22:41628227:CCAG:C	donor_loss	1.0000
22:41628228:CAGGT:C	donor_loss	1.0000
22:41628230:GGT:G	donor_loss	1.0000
22:41628231:GTAAG:G	donor_loss	1.0000
22:41628232:T:A	donor_loss	1.0000
22:41636111:A:AG	acceptor_gain	1.0000
22:41636112:G:GA	acceptor_gain	1.0000
22:41636112:GT:G	acceptor_gain	1.0000
22:41636112:GTGT:G	acceptor_gain	1.0000
22:41636492:A:AG	acceptor_gain	1.0000
22:41636492:ATTT:A	acceptor_gain	1.0000
22:41636493:T:G	acceptor_gain	1.0000
22:41636495:T:A	acceptor_gain	1.0000
22:41636503:T:TA	acceptor_gain	1.0000
22:41636515:GGT:G	acceptor_gain	1.0000
22:41636769:AGGT:A	donor_loss	1.0000
22:41636770:GG:G	donor_loss	1.0000
22:41636771:G:GA	donor_loss	1.0000
22:41637590:T:TA	acceptor_gain	1.0000
22:41637595:A:AG	acceptor_gain	1.0000
22:41637596:C:G	acceptor_gain	1.0000
22:41637603:A:AG	acceptor_gain	1.0000
22:41637603:AACAG:A	acceptor_gain	1.0000
22:41637604:A:G	acceptor_gain	1.0000
22:41637605:CAG:C	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000039395 (22:41662185 T>C), RS1000044573 (22:41623099 T>A), RS1000142366 (22:41639338 T>C), RS1000305427 (22:41639212 A>G,T), RS1000375614 (22:41650278 A>AT), RS1000387605 (22:41650094 T>G), RS1000442267 (22:41651201 C>G,T), RS1000456841 (22:41650950 C>T), RS1000551701 (22:41626560 T>C,G), RS1000572411 (22:41638974 G>C), RS1000700360 (22:41633408 T>G), RS1000706370 (22:41645151 A>G), RS1000715652 (22:41639723 T>A,C,G), RS1000882199 (22:41654872 G>T), RS1000953475 (22:41655910 C>T)

Disease associations

OMIM: gene MIM:152690 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
autism spectrum disorder	Limited	Autosomal dominant

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

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST004278_22	Pulse pressure	3.000000e-11
GCST004988_438	Breast cancer	2.000000e-09
GCST005232_52	Neuroticism	3.000000e-18
GCST010002_83	Refractive error	2.000000e-27
GCST010143_2	Meat-related diet	4.000000e-08
GCST90014325_73	Asthma	7.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0007660	neuroticism measurement
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL4106136 (PROTEIN COMPLEX), CHEMBL6066958 (SINGLE PROTEIN)

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

ChEMBL bioactivities

5 potent at pChembl≥5 of 9 total, top 5 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.45	Kd	35.81	nM	CHEMBL3752910
7.45	ED50	35.81	nM	CHEMBL3752910
7.25	Kd	56.66	nM	CHEMBL5653589
7.25	ED50	56.66	nM	CHEMBL5653589
5.00	IC50	1e+04	nM	CHEMBL1795743

PubChem BioAssay actives

3 with measured affinity, of 88 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149792: Binding affinity to human XRCC6 incubated for 45 mins by Kinobead based pull down assay	kd	0.0358	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149792: Binding affinity to human XRCC6 incubated for 45 mins by Kinobead based pull down assay	kd	0.0567	uM
2-morpholin-4-ylbenzo[h][1,3]benzoxazin-4-one	1325306: Inhibition of human DNA-PK/Ku70/Ku85 using EPPLSQEAFADLWKK as substrate by HTRF assay relative to control	ic50	10.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
4-biphenylamine	decreases expression, decreases reaction	2
bisphenol A	affects expression, decreases expression	2
sodium arsenite	decreases expression, increases expression	2
Air Pollutants	increases abundance, increases oxidation, affects expression, affects cotreatment	2
Calcitriol	decreases expression	2
Cisplatin	affects cotreatment, increases response to substance, decreases expression, increases reaction	2
Ozone	affects cotreatment, increases oxidation, increases abundance, affects expression	2
Tetrachlorodibenzodioxin	decreases reaction, increases expression, affects binding, increases reaction	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
pradimicin-IRD	affects expression, affects response to substance	1
dicrotophos	decreases expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
1,12-benzoperylene	decreases expression, increases expression	1
selenocystine	decreases expression, increases reaction	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression	1
terbufos	decreases expression, increases expression, affects cotreatment	1
trichostatin A	increases acetylation	1
arsenite	decreases reaction, affects binding	1
3,3’-diindolylmethane	decreases reaction, increases expression	1
fludarabine	decreases activity, affects cotreatment, increases acetylation	1
sulindac sulfide	increases expression	1
coumarin	increases phosphorylation	1
2-hydroxyethyl disulfide	affects binding, affects cotreatment, decreases activity	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
LAQ824	decreases activity, increases acetylation, affects cotreatment	1
ICG 001	increases expression	1
bisphenol B	increases expression	1
riccardin D	decreases expression	1
CUDC-907	decreases expression	1

ChEMBL screening assays

44 unique, capped per target: 44 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3864780	Binding	Inhibition of human DNA-PK/Ku70/Ku85 at 10 uM using EPPLSQEAFADLWKK as substrate by HTRF assay relative to control	Synthesis of linear and angular aryl-morpholino-naphth-oxazines, their DNA-PK, PI3K, PDE3A and antiplatelet activity. — Bioorg Med Chem Lett

Cellosaurus cell lines

6 cell lines: 3 cancer cell line, 3 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_1R02	HCT116-Ku70(+/-)	Cancer cell line	Male
CVCL_C4PE	N6-KU70-2-DG	Cancer cell line	Male
CVCL_HE01	HCT 116 XRCC6(+/-)	Cancer cell line	Male
CVCL_VU46	R70-15	Spontaneously immortalized cell line	Male
CVCL_VU47	R7080-20	Spontaneously immortalized cell line	Male
CVCL_VU48	R7080-6	Spontaneously immortalized cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in 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
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
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
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-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
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study 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
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder