FBXO11

Summary

FBXO11 (F-box protein 11, HGNC:13590) is a protein-coding gene on chromosome 2p16.3, encoding F-box only protein 11 (Q86XK2). Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6, SNAI1 and PRDM1/BLIMP1. It is a selective cancer dependency (DepMap: 15.3% of cell lines).

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene.

Source: NCBI Gene 80204 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (Definitive, GenCC)
• GWAS associations: 15
• Clinical variants (ClinVar): 1,240 total — 54 pathogenic, 93 likely-pathogenic
• Phenotypes (HPO): 123
• Druggable target: yes
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 3 cancer types
• Cancer dependency (DepMap): dependent in 15.3% of screened cell lines
• MANE Select transcript: NM_001190274

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13590
Approved symbol	FBXO11
Name	F-box protein 11
Location	2p16.3
Locus type	gene with protein product
Status	Approved
Aliases	FBX11, UBR6
Ensembl gene	ENSG00000138081
Ensembl biotype	protein_coding
OMIM	607871
Entrez	80204

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 9 protein_coding, 8 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000402508, ENST00000403359, ENST00000405808, ENST00000424163, ENST00000434234, ENST00000465204, ENST00000470899, ENST00000480038, ENST00000492225, ENST00000493962, ENST00000681999, ENST00000682451, ENST00000682484, ENST00000682975, ENST00000683894, ENST00000684085, ENST00000684523, ENST00000684712, ENST00000895446, ENST00000945015, ENST00000945016

RefSeq mRNA: 3 — MANE Select: NM_001190274 NM_001190274, NM_001374325, NM_025133

CCDS: CCDS1837, CCDS54357

Canonical transcript exons

ENST00000403359 — 23 exons

Exon	Start	End
ENSE00001519522	47905489	47906498
ENSE00001643908	47813791	47813867
ENSE00001789594	47818779	47818864
ENSE00003497186	47834788	47834871
ENSE00003508984	47809158	47809266
ENSE00003527374	47813234	47813377
ENSE00003529687	47839419	47839500
ENSE00003529914	47808329	47808427
ENSE00003536108	47822218	47822303
ENSE00003543404	47832572	47832678
ENSE00003552484	47810316	47810426
ENSE00003553750	47839642	47839769
ENSE00003561320	47834579	47834711
ENSE00003563258	47832964	47833070
ENSE00003580296	47832769	47832880
ENSE00003587526	47818956	47819078
ENSE00003603665	47838859	47839003
ENSE00003638566	47820362	47820456
ENSE00003642472	47823143	47823360
ENSE00003646394	47832349	47832486
ENSE00003647540	47835872	47836001
ENSE00003666349	47809600	47809707
ENSE00003902479	47806920	47808247

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 97.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.7701 / max 300.8850, expressed in 1814 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
28241	13.6300	1757
28240	8.1751	1735
28239	7.6880	1747
28236	1.7034	876
28237	1.3595	690
28238	0.2141	119

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.92	gold quality
ganglionic eminence	UBERON:0004023	97.19	gold quality
ventricular zone	UBERON:0003053	96.48	gold quality
cerebellar cortex	UBERON:0002129	96.12	gold quality
cerebellar hemisphere	UBERON:0002245	96.12	gold quality
cerebellum	UBERON:0002037	95.99	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.98	gold quality
calcaneal tendon	UBERON:0003701	95.96	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.82	gold quality
superficial temporal artery	UBERON:0001614	95.00	gold quality
ovary	UBERON:0000992	94.81	gold quality
left ovary	UBERON:0002119	94.77	gold quality
trabecular bone tissue	UBERON:0002483	94.74	gold quality
monocyte	CL:0000576	94.60	gold quality
mononuclear cell	CL:0000842	94.54	gold quality
corpus callosum	UBERON:0002336	94.53	gold quality
endometrium	UBERON:0001295	94.41	gold quality
leukocyte	CL:0000738	94.39	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.38	gold quality
right ovary	UBERON:0002118	94.38	gold quality
primary visual cortex	UBERON:0002436	94.21	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	94.15	gold quality
tendon	UBERON:0000043	94.03	gold quality
embryo	UBERON:0000922	93.94	gold quality
body of uterus	UBERON:0009853	93.93	gold quality
right lung	UBERON:0002167	93.92	gold quality
occipital lobe	UBERON:0002021	93.91	gold quality
prefrontal cortex	UBERON:0000451	93.87	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.81	gold quality
right testis	UBERON:0004534	93.66	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.64

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA3

miRNA regulators (miRDB)

168 targeting FBXO11, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3912-5P	99.95	66.11	925

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 34)

• A type II protein arginine methyltransferase that forms asymmetric dimethylarginine modifications in proteins. (PMID:16487488)
• The FBXO11 gene is the human homologue of the gene mutated in the novel deaf mouse mutant jeff (Jf), a single gene model of otitis media. FBXO11 gene for association with chronic otitis media with effusion. (PMID:16847180)
• FBXO11 promotes the Neddylation (NEDD8) of p53 and inhibits its transcriptional activity (PMID:17098746)
• Results support the notion that FBXO11 plays an important role in regulating proliferation and apoptosis of melanocytes, and functional export of tyrosinase from ER in vitiligo melanocytes. (PMID:20514423)
• FBXO11 has a lower expression in skin lesion tissues than in normal tissues from vitiligo patients. (PMID:20646433)
• these data provide strong evidence for FBXO11 as a susceptibility gene for severe OM. (PMID:21293382)
• A molecular mechanism controlling BCL6 stability–mutations and deletions in FBXO11 contribute to lymphomagenesis through BCL6 stabilization (PMID:22113614)
• The functional interaction between FBXO11 and CDT2 is evolutionary conserved from worms to humans and plays an important role in regulating the timing of cell-cycle exit. (PMID:23478441)
• Migration of epithelial cells is stimulated by CRL1(FBXO11)-mediated downregulation of Cdt2 and the consequent stabilization of Set8. (PMID:23478445)
• TGF-beta signaling promotes exit from the cell cycle and cellular migration through cullin cross-regulation: SCF-FBXO11 turns off CRL4-Cdt2. (PMID:23892434)
• study defined eight additional recurrently mutated genes in SMZL; these genes are CREBBP, CBFA2T3, AMOTL1, FAT4, FBXO11, PLA2G4D, TRRAP and USH2A. (PMID:24349473)
• The PKD1-FBXO11-SNAIL axis is a mechanism of posttranslational regulation of epithelial-mesenchymal transition and cancer metastasis. (PMID:25203322)
• Our results identify FBXO11 as a novel miR-21 target gene, and demonstrate that the oncogenic miRNA miR-21 decreases the expression of FBXO11, which normally acts as a tumor suppressor, and thereby promotes tumorigenesis. (PMID:25589783)
• FBXO11 is a direct target of miR-621 in breast cancer cells. (PMID:25867061)
• UBR3/6 regulate cardiomyocyte Nav 1.5 channel protein levels via the ubiquitin-proteasome pathway. (PMID:26059563)
• siRNA-mediated knockdown of FBXO11 facilitated HIF-1alpha expression in various cancer cells and HIF-1alpha-driven gene expressions, but the FBXO10 knockdown did not. (PMID:26187670)
• Chronic otitis media is associated with the TGIF1 and FBXO11 loci that are involved in TGF-beta signaling, suggesting this pathway may be important in the transition from acute to chronic middle ear inflammation, and a potential molecular target. (PMID:28970529)
• Understanding of the functions of FBXO11. (PMID:29278851)
• High expression of FBXO11 predicted a poor survival of hepatocellular carcinoma patients. (PMID:29518611)
• we confirm deleterious de novo mutations in FBXO11 as a cause of Intellectual disability and start the delineation of the associated clinical picture which may also comprise postnatal microcephaly or borderline small head size and behavioural anomalies. (PMID:29796876)
• Eight missense variants distributed throughout FBXO11. (PMID:30057029)
• 24 individuals with a de novo disease-causing variant in, or partial deletion of, the F-box only protein 11 gene, are reported. (PMID:30679813)
• FBXO11 expression was closely related to renal cell carcinoma malignancy and poor prognosis, indicating its potential as a prognostic marker as well as a therapeutic target for renal cell carcinoma. (PMID:31159774)
• Long non-coding RNA NNT-AS1 regulates proliferation, apoptosis, inflammation and airway remodeling of chronic obstructive pulmonary disease via targeting miR-582-5p/FBXO11 axis. (PMID:32768929)
• The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant. (PMID:32902151)
• FBXO11 is a candidate tumor suppressor in the leukemic transformation of myelodysplastic syndrome. (PMID:33024076)
• FBXO11-mediated proteolysis of BAHD1 relieves PRC2-dependent transcriptional repression in erythropoiesis. (PMID:33156908)
• De novo missense variants in FBXO11 alter its protein expression and subcellular localization. (PMID:34505148)
• Frequent mutations of FBXO11 highlight BCL6 as a therapeutic target in Burkitt lymphoma. (PMID:34625792)
• Ultrasound-targeted microbubble destruction-mediated silencing of FBXO11 suppresses development of pancreatic cancer. (PMID:35437704)
• FBXO11 amplifies type I interferon signaling to exert antiviral effects by facilitating the assemble of TRAF3-TBK1-IRF3 complex. (PMID:36897010)
• FBXO11 governs macrophage cell death and inflammation in response to bacterial toxins. (PMID:36977592)
• FBXO11 constitutes a major negative regulator of MHC class II through ubiquitin-dependent proteasomal degradation of CIITA. (PMID:37279268)
• FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals. (PMID:38740982)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fbxo11	ENSMUSG00000005371
rattus_norvegicus	Fbxo11	ENSRNOG00000016396
drosophila_melanogaster	FBXO11	FBGN0037760
caenorhabditis_elegans		WBGENE00001089
caenorhabditis_elegans		WBGENE00015268

Paralogs (1): FBXO10 (ENSG00000147912)

Protein

Protein identifiers

F-box only protein 11 — Q86XK2 (reviewed: Q86XK2)

Alternative names: Protein arginine N-methyltransferase 9, Vitiligo-associated protein 1

All UniProt accessions (6): Q86XK2, A0A804HK63, B5MCV6, C9IYF0, E7EP88, H0YAV3

UniProt curated annotations — full annotation on UniProt →

Function. Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6, SNAI1 and PRDM1/BLIMP1. The SCF(FBXO11) complex mediates ubiquitination and degradation of BCL6, thereby playing a role in the germinal center B-cells terminal differentiation toward memory B-cells and plasma cells. The SCF(FBXO11) complex also mediates ubiquitination and degradation of DTL, an important step for the regulation of TGF-beta signaling, cell migration and the timing of the cell-cycle progression and exit. The SCF(FBXO11) complex also catalyzes ubiquitination and degradation of GSK3B-phosphorylated SNAI1. Binds to and neddylates phosphorylated p53/TP53, inhibiting its transcriptional activity. Plays a role in the regulatiom of erythropoiesis but not myelopoiesis or megakaryopoiesis. Mechanistically, activates erythroid genes by mediating the degradation of BAHD1, a heterochromatin-associated protein that recruits corepressors to H3K27me3 marks. Participates in macrophage cell death and inflammation in response to bacterial toxins by regulating the expression of complement 5a receptor 1/C5AR1 and IL-1beta. Acts as a critical regulator to determine the level of MHC-II by mediating the recognition of degron at the P/S/T domain of CIITA leading to its ubiquitination and subsequent degradation via the proteasome. Participates in the antiviral repsonse by initiating the activation of TBK1-IRF3-IFN-I axis. Mediates the ‘Lys-63’-linked ubiquitination of TRAF3 to strengthen the interaction between TRAF3 and TBK1.

Subunit / interactions. Component of the SCF(FBXO11) complex consisting of CUL1, RBX1, SKP1 and FBXO11. Interacts with CIITA.

Subcellular location. Nucleus. Chromosome.

Tissue specificity. Isoform 5 is expressed in keratinocytes, fibroblasts and melanocytes.

Disease relevance. Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) [MIM:618089] An autosomal dominant developmental disorder with variable manifestations and onset in infancy or first years of life. Clinical features include intellectual disability, speech delay, hyperkinetic disorder, hyperactivity, seizures, pre- and postnatal growth retardation, microcephaly, and facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry. Defects in FBXO11 may be a cause of diffuse large B-cell lymphoma by allowing the accumulation of BCL6, an oncoprotein that has a critical role in lymphomas.

Pathway. Protein modification; protein ubiquitination.

Isoforms (6)

UniProt ID	Names	Canonical?
Q86XK2-1	1	yes
Q86XK2-2	2
Q86XK2-6	6
Q86XK2-3	3
Q86XK2-4	4
Q86XK2-5	5

RefSeq proteins (3): NP_001177203, NP_001361254, NP_079409 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001810	F-box_dom	Domain
IPR003126	Znf_UBR	Domain
IPR006626	PbH1	Repeat
IPR006633	Carb-bd_sugar_hydrolysis-dom	Domain
IPR011050	Pectin_lyase_fold/virulence	Homologous_superfamily
IPR012334	Pectin_lyas_fold	Homologous_superfamily
IPR022441	Para_beta_helix_rpt-2	Repeat
IPR036047	F-box-like_dom_sf	Homologous_superfamily
IPR039448	Beta_helix	Domain
IPR047504	FBXO11_UBR-box	Domain
IPR047505	F-box_FBXO11	Domain
IPR051550	SCF-Subunits/Alg-Epimerases	Family

Pfam: PF02207, PF12937, PF13229

UniProt features (65 total): repeat 19, sequence variant 19, splice variant 8, compositionally biased region 4, sequence conflict 4, strand 3, helix 2, chain 1, domain 1, zinc finger region 1, region of interest 1, mutagenesis site 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5VMD	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86XK2-F1	82.65	0.69

Functional residue map

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

Mutagenesis-validated functional residues (1):

Position	Phenotype
575	greatly reduced ability to bind prdm1 and reduced proteolysis of prdm1.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 528 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MODULE_255, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_317, ATGCAGT_MIR217, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, FOXD3_01, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_2NM_DN, RODRIGUES_NTN1_TARGETS_UP, CTAGGAA_MIR384, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP

GO Biological Process (7): ubiquitin-dependent protein catabolic process (GO:0006511), sensory perception of sound (GO:0007605), negative regulation of epithelial to mesenchymal transition (GO:0010719), protein ubiquitination (GO:0016567), regulation of apoptotic process (GO:0042981), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), epithelial to mesenchymal transition (GO:0001837)

GO Molecular Function (6): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), protein-arginine N-methyltransferase activity (GO:0016274), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (7): ubiquitin ligase complex (GO:0000151), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nuclear lumen	2
intracellular membraneless organelle	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
sensory perception of mechanical stimulus	1
epithelial to mesenchymal transition	1
regulation of epithelial to mesenchymal transition	1
negative regulation of cell differentiation	1
negative regulation of multicellular organismal process	1
protein modification by small protein conjugation	1
apoptotic process	1
regulation of programmed cell death	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
mesenchymal cell differentiation	1
ubiquitin-like protein transferase activity	1
transition metal ion binding	1
protein methyltransferase activity	1
arginine N-methyltransferase activity	1
enzyme-substrate adaptor activity	1
binding	1
cation binding	1
intracellular protein-containing complex	1
transferase complex	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1606 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBXO11	SKP1	P34991	857
FBXO11	CUL1	Q13616	827
FBXO11	MSH6	P52701	788
FBXO11	FBXL14	Q8N1E6	773
FBXO11	DTL	Q9NZJ0	726
FBXO11	CUL2	Q13617	650
FBXO11	FBXO45	P0C2W1	647
FBXO11	FBXL5	Q9UKA1	605
FBXO11	PRKD1	Q15139	589
FBXO11	FBXO4	Q9UKT5	586
FBXO11	TP53	P04637	581
FBXO11	FBXO9	Q9UK97	572
FBXO11	GSK3B	P49841	556
FBXO11	UBR3	Q6ZT12	554
FBXO11	UBR7	Q8N806	529

IntAct

159 interactions, top by confidence:

A	B	Type	Score
FBXO11	SKP1	psi-mi:“MI:0915”(physical association)	0.930
SKP1	FBXO11	psi-mi:“MI:0915”(physical association)	0.930
CDK13	CCNK	psi-mi:“MI:0914”(association)	0.830
KHDRBS2	KHDRBS3	psi-mi:“MI:0914”(association)	0.800
CUL4B	COPS2	psi-mi:“MI:0914”(association)	0.790
COPS6	RHOBTB1	psi-mi:“MI:0914”(association)	0.730
PRPF3	PRPF4	psi-mi:“MI:0914”(association)	0.730
CTBP1	CBX4	psi-mi:“MI:0914”(association)	0.700
SKP1	FBXO11	psi-mi:“MI:0915”(physical association)	0.680
FBXO11	SKP1	psi-mi:“MI:0915”(physical association)	0.680
FBXO11	SKP1	psi-mi:“MI:0914”(association)	0.680
TP53	FBXO11	psi-mi:“MI:0915”(physical association)	0.650
FBXO11	TP53	psi-mi:“MI:0407”(direct interaction)	0.650
FBXO11	TP53	psi-mi:“MI:0915”(physical association)	0.650
FBXO11	TP53	psi-mi:“MI:0567”(neddylation reaction)	0.650
BCL6	FBXO11	psi-mi:“MI:0407”(direct interaction)	0.650
BCL6	FBXO11	psi-mi:“MI:0915”(physical association)	0.650
FBXO11	BCL6	psi-mi:“MI:0914”(association)	0.650
FBXO11	RBX1	psi-mi:“MI:0914”(association)	0.640
SKP1	MYCBP2	psi-mi:“MI:0914”(association)	0.640

BioGRID (235): FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-Western), FBXO11 (Two-hybrid), FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS)

ESM2 similar proteins: A0A286ZK88, A1L1L6, A7MB28, A8WGF4, B8BJ39, D0G6S1, O00399, O54956, P11029, P11497, Q13085, Q148G7, Q28007, Q28943, Q28DR7, Q2HJF8, Q2RAK2, Q4R4U1, Q502J7, Q5FVD6, Q5R559, Q5R5F8, Q5R7D8, Q5R8Q7, Q5SWU9, Q5ZIT8, Q5ZM73, Q6AYR2, Q6NVC5, Q6NWV3, Q6P1X5, Q6PC62, Q7TPD1, Q7TSL3, Q86XK2, Q8BG51, Q8BH44, Q8C176, Q8CHR6, Q8IWZ6

Diamond homologs: A2AN08, O95071, P51592, Q29L39, Q2TL32, Q5T4S7, Q62671, Q7TPD1, Q7TSL3, Q80TP3, Q86XK2, Q94251, Q9VLT5, A2VE78, C0HAC0, Q2YDQ5, Q3T0J1, Q58DG6, Q5R6E1, Q5XGI3, Q6INS1, Q8C2S5, Q8IX29, Q96IG2, Q9CZV8, Q9QZH7, Q9QZM9, Q9UKA1, B9G2A8, Q9LG11, Q9SRU2, A1L271, C4JPW9, C5GVJ9, C5JD40, D4AM37, D4D8P3, O08653, O14775, P0CS44

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
FBXO11	down-regulates	TP53	neddylation
FBXO11	down-regulates	BCL6	binding
FBXO11	down-regulates	DTL	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 187 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
DNA Damage Recognition in GG-NER	8	18.1×	9e-06
Recognition of DNA damage by PCNA-containing replication complex	5	15.1×	1e-03
FBXL7 down-regulates AURKA during mitotic entry and in early mitosis	7	13.8×	9e-05
Formation of TC-NER Pre-Incision Complex	8	13.4×	3e-05
GSK3B-mediated proteasomal degradation of PD-L1(CD274)	7	13.2×	1e-04
GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2	6	11.8×	9e-04
Regulation of TP53 Degradation	5	11.6×	2e-03
Regulation of RUNX2 expression and activity	8	11.5×	7e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein neddylation	5	20.6×	2e-03
positive regulation of fibroblast proliferation	8	13.9×	1e-04

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 3 cancer types — BL, MLYM, NHL.

Clinical variants and AI predictions

ClinVar

1240 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	54
Likely pathogenic	93
Uncertain significance	418
Likely benign	533
Benign	57

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1076339	NC_000002.11:g.(?47635530)(48035526_?)del	Pathogenic
1200593	NM_001190274.2(FBXO11):c.2744_2745del (p.Ser915fs)	Pathogenic
1305954	NM_001190274.2(FBXO11):c.1364G>A (p.Arg455His)	Pathogenic
1329862	NM_001190274.2(FBXO11):c.1797+1G>A	Pathogenic
1329864	NM_001190274.2(FBXO11):c.2338+1G>A	Pathogenic
1329865	NM_001190274.2(FBXO11):c.588-2A>G	Pathogenic
1329866	NM_001190274.2(FBXO11):c.1696del (p.Ile566fs)	Pathogenic
1329869	NM_001190274.2(FBXO11):c.500TCT[1] (p.Phe168del)	Pathogenic
1329960	NM_001190274.2(FBXO11):c.2592_2593del (p.Ile864fs)	Pathogenic
1329962	NM_001190274.2(FBXO11):c.2570_2572del (p.Asn857del)	Pathogenic
1329963	NM_001190274.2(FBXO11):c.2520_2521del (p.Ser841fs)	Pathogenic
1329964	NM_001190274.2(FBXO11):c.552del (p.Lys184fs)	Pathogenic
1329965	NM_001190274.2(FBXO11):c.2568_2572del (p.Asn857fs)	Pathogenic
1329966	NM_001190274.2(FBXO11):c.1798-1G>A	Pathogenic
1329972	NM_001190274.2(FBXO11):c.668del (p.Pro223fs)	Pathogenic
1329974	NM_001190274.2(FBXO11):c.1543_1557del (p.Phe515_Lys519del)	Pathogenic
1329975	NM_001190274.2(FBXO11):c.2392AAC[1] (p.Asn799del)	Pathogenic
1329977	NM_001190274.2(FBXO11):c.2748_2749del (p.Pro917fs)	Pathogenic
1454648	NC_000002.11:g.(?47948073)(48035379_?)del	Pathogenic
1708215	NM_001190274.2(FBXO11):c.2732_2738del (p.Thr911fs)	Pathogenic
1711499	NM_001190274.2(FBXO11):c.1537G>T (p.Gly513Ter)	Pathogenic
1804626	NM_001190274.2(FBXO11):c.2339-2A>G	Pathogenic
2134559	NM_001190274.2(FBXO11):c.2736dup (p.Tyr913fs)	Pathogenic
2288541	NM_001190274.2(FBXO11):c.592C>T (p.Arg198Ter)	Pathogenic
2756341	NM_001190274.2(FBXO11):c.442+3A>G	Pathogenic
3247085	NC_000002.11:g.(?48030569)(48034835_?)del	Pathogenic
3251130	NM_001190274.2(FBXO11):c.2327del (p.Gly776fs)	Pathogenic
3364840	NM_001190274.2(FBXO11):c.2168GAA[1] (p.Arg724del)	Pathogenic
3377013	NM_001190274.2(FBXO11):c.1646GAG[1] (p.Gly550del)	Pathogenic
3393036	NM_001190274.2(FBXO11):c.2138G>A (p.Trp713Ter)	Pathogenic

SpliceAI

3871 predictions. Top by Δscore:

Variant	Effect	Δscore
2:47790918:T:TA	acceptor_gain	1.0000
2:47790925:A:AG	acceptor_gain	1.0000
2:47790926:G:GG	acceptor_gain	1.0000
2:47790926:GTT:G	acceptor_gain	1.0000
2:47796049:G:GT	donor_gain	1.0000
2:47796061:G:GT	donor_gain	1.0000
2:47803682:ACAG:A	donor_loss	1.0000
2:47803683:CAGG:C	donor_loss	1.0000
2:47803684:AGGTA:A	donor_loss	1.0000
2:47803685:GG:G	donor_loss	1.0000
2:47803686:G:GC	donor_loss	1.0000
2:47803687:T:A	donor_loss	1.0000
2:47804905:CACA:C	acceptor_loss	1.0000
2:47804907:CA:C	acceptor_loss	1.0000
2:47804908:AG:A	acceptor_gain	1.0000
2:47804908:AGGCT:A	acceptor_gain	1.0000
2:47804909:GG:G	acceptor_gain	1.0000
2:47804909:GGCT:G	acceptor_gain	1.0000
2:47804909:GGCTG:G	acceptor_gain	1.0000
2:47805023:GTCAG:G	donor_gain	1.0000
2:47805024:TCAGG:T	donor_loss	1.0000
2:47805025:CAGGT:C	donor_loss	1.0000
2:47805026:AGG:A	donor_loss	1.0000
2:47805027:GGT:G	donor_loss	1.0000
2:47805028:G:T	donor_loss	1.0000
2:47805029:T:G	donor_loss	1.0000
2:47805614:TAAG:T	acceptor_loss	1.0000
2:47805615:A:AG	acceptor_gain	1.0000
2:47805615:AAG:A	acceptor_gain	1.0000
2:47805615:AAGGT:A	acceptor_gain	1.0000

AlphaMissense

6177 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:47808205:A:C	C899W	1.000
2:47808206:C:G	C899S	1.000
2:47808206:C:T	C899Y	1.000
2:47808207:A:G	C899R	1.000
2:47808207:A:T	C899S	1.000
2:47808230:C:T	G891D	1.000
2:47808231:C:G	G891R	1.000
2:47808232:A:C	C890W	1.000
2:47808233:C:A	C890F	1.000
2:47808233:C:G	C890S	1.000
2:47808233:C:T	C890Y	1.000
2:47808234:A:G	C890R	1.000
2:47808234:A:T	C890S	1.000
2:47808236:T:A	D889V	1.000
2:47808236:T:C	D889G	1.000
2:47808236:T:G	D889A	1.000
2:47808237:C:G	D889H	1.000
2:47808238:A:C	C888W	1.000
2:47808239:C:A	C888F	1.000
2:47808239:C:G	C888S	1.000
2:47808239:C:T	C888Y	1.000
2:47808240:A:C	C888G	1.000
2:47808240:A:G	C888R	1.000
2:47808240:A:T	C888S	1.000
2:47808241:G:C	F887L	1.000
2:47808241:G:T	F887L	1.000
2:47808242:A:C	F887C	1.000
2:47808242:A:G	F887S	1.000
2:47808243:A:G	F887L	1.000
2:47808244:A:C	F886L	1.000

dbSNP variants (sampled 300 via entrez): RS1000037456 (2:47874935 G>A,C,T), RS1000058174 (2:47900446 G>A), RS1000067880 (2:47878369 T>C,G), RS1000096709 (2:47876371 T>G), RS1000128385 (2:47904927 CG>C,CGG,CGGGG), RS1000140122 (2:47829611 G>C,T), RS1000147193 (2:47824080 A>G), RS1000147911 (2:47859887 C>A,T), RS1000228757 (2:47838504 A>C,T), RS1000229528 (2:47887660 A>G), RS1000258482 (2:47825772 T>C), RS1000283553 (2:47887393 G>A), RS1000291383 (2:47825952 A>G), RS1000299434 (2:47900655 T>A,C), RS1000302168 (2:47887848 T>A)

Disease associations

OMIM: gene MIM:607871 | disease phenotypes: MIM:618089, MIM:614325, MIM:614350

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	Definitive	Autosomal dominant

Mondo (11): intellectual disability (MONDO:0001071), intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (MONDO:0060760), neurodevelopmental disorder (MONDO:0700092), Pitt-Hopkins-like syndrome 2 (MONDO:0013690), Lynch syndrome 5 (MONDO:0013710), Lynch syndrome (MONDO:0005835), hereditary neoplastic syndrome (MONDO:0015356), breast cancer (MONDO:0007254), endometrial carcinoma (MONDO:0002447), papillary carcinoma of the corpus uteri (MONDO:0016268), obesity disorder (MONDO:0011122)

Orphanet (8): OBSOLETE: Pitt-Hopkins-like syndrome (Orphanet:221150), NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance (Orphanet:600663), Lynch syndrome (Orphanet:144), Inherited cancer-predisposing syndrome (Orphanet:140162), Serous carcinoma of the corpus uteri (Orphanet:213726), Obesity due to melanocortin 4 receptor deficiency (Orphanet:71529), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Non rare obesity (Orphanet:521399)

HPO phenotypes

123 total (30 of 123 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000028	Cryptorchidism
HP:0000098	Tall stature
HP:0000154	Wide mouth
HP:0000160	Narrow mouth
HP:0000175	Cleft palate
HP:0000179	Thick lower lip vermilion
HP:0000193	Bifid uvula
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000232	Everted lower lip vermilion
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000276	Long face
HP:0000278	Retrognathia
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000303	Mandibular prognathia
HP:0000307	Pointed chin
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000322	Short philtrum
HP:0000325	Triangular face
HP:0000337	Broad forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000358	Posteriorly rotated ears

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST001851_12	Schizophrenia	6.000000e-06
GCST003831_4	Asthma	3.000000e-06
GCST004861_38	Itch intensity from mosquito bite	4.000000e-07
GCST004861_40	Itch intensity from mosquito bite	3.000000e-08
GCST004862_174	Itch intensity from mosquito bite adjusted by bite size	2.000000e-07
GCST004865_58	Itch intensity from mosquito bite adjusted by bite size	7.000000e-06
GCST004865_59	Itch intensity from mosquito bite adjusted by bite size	8.000000e-08
GCST006976_66	Macular thickness	5.000000e-10
GCST007576_189	Chronotype	2.000000e-08
GCST010002_391	Refractive error	6.000000e-09
GCST010320_53	PR interval	7.000000e-08
GCST010321_190	PR interval	5.000000e-09
GCST011617_33	Cortical surface area	2.000000e-16
GCST90000025_742	Appendicular lean mass	8.000000e-13
GCST90011899_3	Aspartate aminotransferase levels	5.000000e-12

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0008328	chronotype measurement
EFO:0004462	PR interval
EFO:0004980	appendicular lean mass
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D065886	Neurodevelopmental Disorders	F03.625
C563456	Colorectal Cancer, Hereditary Nonpolyposis, Type 5 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4879484 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — 2.1.1.- Protein arginine N-methyltransferases

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	4
graphene oxide	increases expression	2
Estradiol	affects expression, affects cotreatment, increases expression	2
Formaldehyde	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cadmium Chloride	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
sodium arsenite	decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
picoxystrobin	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Arbutin	increases expression	1
Arsenic	increases abundance, decreases expression	1
Aspirin	increases expression	1
Atrazine	increases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	decreases expression	1
Bucladesine	affects cotreatment, increases expression	1
Endosulfan	increases expression, decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Paraquat	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Progesterone	increases expression	1
Rotenone	increases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4833660	Binding	Inhibition of PRMT9 (unknown origin) at 10 uM using SAM as substrate measured up to 960 mins by AlphaScreen microplate reader assay relative to control	Discovery of IHMT-EZH2-115 as a Potent and Selective Enhancer of Zeste Homolog 2 (EZH2) Inhibitor for the Treatment of B-Cell Lymphomas. — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1S0	Abcam HeLa FBXO11 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
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,
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
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
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study