CNPY3

Summary

CNPY3 (canopy FGF signaling regulator 3, HGNC:11968) is a protein-coding gene on chromosome 6p21.1, encoding Protein canopy homolog 3 (Q9BT09). Toll-like receptor (TLR)-specific co-chaperone for HSP90B1.

This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrough transcription occurs between this locus and the downstream GNMT (glycine N-methyltransferase) gene and is represented with GeneID:107080644.

Source: NCBI Gene 10695 — RefSeq curated summary.

At a glance

• Gene–disease (curated): developmental and epileptic encephalopathy, 60 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 84 total — 3 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 6
• Druggable target: yes
• MANE Select transcript: NM_006586

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11968
Approved symbol	CNPY3
Name	canopy FGF signaling regulator 3
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	CAG4A
Ensembl gene	ENSG00000137161
Ensembl biotype	protein_coding
OMIM	610774
Entrez	10695

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 13 protein_coding

ENST00000372836, ENST00000893179, ENST00000893180, ENST00000893181, ENST00000893182, ENST00000924677, ENST00000924678, ENST00000924679, ENST00000924680, ENST00000945352, ENST00000945353, ENST00000945354, ENST00000945355

RefSeq mRNA: 4 — MANE Select: NM_006586 NM_001318842, NM_001318845, NM_001318848, NM_006586

CCDS: CCDS4875

Canonical transcript exons

ENST00000372836 — 6 exons

Exon	Start	End
ENSE00000751461	42934475	42934598
ENSE00001242063	42929480	42929721
ENSE00001836582	42938568	42939294
ENSE00003468398	42937717	42937839
ENSE00003564546	42935574	42935670
ENSE00003574316	42938090	42938207

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 98.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.5271 / max 404.1267, expressed in 1822 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67837	24.3893	1818
67838	4.8253	1516
67835	3.8210	1558
67836	1.4914	938

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	98.91	gold quality
granulocyte	CL:0000094	98.64	gold quality
leukocyte	CL:0000738	98.58	gold quality
mononuclear cell	CL:0000842	98.57	gold quality
body of pancreas	UBERON:0001150	96.99	gold quality
spleen	UBERON:0002106	96.97	gold quality
blood	UBERON:0000178	96.92	gold quality
olfactory bulb	UBERON:0002264	96.34	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.61	gold quality
lymph node	UBERON:0000029	95.34	gold quality
bone marrow cell	CL:0002092	95.20	gold quality
right lobe of liver	UBERON:0001114	95.02	gold quality
type B pancreatic cell	CL:0000169	94.99	silver quality
endocervix	UBERON:0000458	94.51	gold quality
right ovary	UBERON:0002118	94.38	gold quality
spinal cord	UBERON:0002240	94.34	gold quality
upper lobe of left lung	UBERON:0008952	94.22	gold quality
stromal cell of endometrium	CL:0002255	94.18	gold quality
right lung	UBERON:0002167	94.08	gold quality
right coronary artery	UBERON:0001625	94.07	gold quality
left ovary	UBERON:0002119	94.03	gold quality
left testis	UBERON:0004533	94.03	gold quality
right testis	UBERON:0004534	94.03	gold quality
adenohypophysis	UBERON:0002196	93.98	gold quality
bone marrow	UBERON:0002371	93.96	gold quality
pancreas	UBERON:0001264	93.91	gold quality
right uterine tube	UBERON:0001302	93.88	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.87	gold quality
vermiform appendix	UBERON:0001154	93.80	gold quality
thoracic aorta	UBERON:0001515	93.76	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 15.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	47.25
E-HCAD-6	yes	40.55
E-MTAB-10553	yes	31.20
E-HCAD-10	yes	27.83
E-MTAB-6701	yes	23.09
E-MTAB-10042	yes	16.73
E-HCAD-1	yes	16.44
E-CURD-112	yes	14.21
E-MTAB-9467	yes	13.03
E-CURD-122	yes	12.98
E-MTAB-9067	yes	12.91
E-MTAB-8498	yes	11.87
E-ANND-3	yes	10.93
E-MTAB-6678	yes	5.63
E-CURD-88	yes	4.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting CNPY3, 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-4283	100.00	66.42	2097
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-10A-5P	98.89	69.85	712
HSA-MIR-10B-5P	98.89	69.86	711
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-5000-3P	98.79	65.63	1251
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-4436A	98.05	64.83	1140
HSA-MIR-1289	97.46	65.37	655
HSA-MIR-10400-3P	97.29	64.66	597
HSA-MIR-4674	97.29	64.62	597
HSA-MIR-212-5P	96.83	67.43	950
HSA-MIR-4749-3P	96.40	66.24	798

Literature-anchored findings (GeneRIF, showing 4)

• a mechanism for the differential trafficking of TLR1 I602S variants, and highlight the distinct roles for PRAT4A and PRAT4B in the regulation of TLR1 surface expression. (PMID:22447933)
• The data suggest that CNPY3 performs essential roles in brain function, in addition to known Toll-like receptor-dependent immune responses. (PMID:29394991)
• The TLR-chaperone CNPY3 is a critical regulator of NLRP3-inflammasome activation. (PMID:35334124)
• A novel rare variant of CNPY3 from familial NMOSD impairs the TLR-mediated immune response. (PMID:36931208)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cnpy3	ENSDARG00000070512
mus_musculus	Cnpy3	ENSMUSG00000023973
rattus_norvegicus	Cnpy3	ENSRNOG00000016315
drosophila_melanogaster	CNPYb	FBGN0036847
caenorhabditis_elegans		WBGENE00007531

Paralogs (1): CNPY4 (ENSG00000166997)

Protein

Protein identifiers

Protein canopy homolog 3 — Q9BT09 (reviewed: Q9BT09)

Alternative names: CTG repeat protein 4a, Expanded repeat-domain protein CAG/CTG 5, Protein associated with TLR4, Trinucleotide repeat-containing gene 5 protein

All UniProt accessions (1): Q9BT09

UniProt curated annotations — full annotation on UniProt →

Function. Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses.

Subunit / interactions. Interacts with HSP90B1; this interaction is disrupted in the presence of ATP. Interacts with TLR1, TLR2, TLR4 and TLR9. Strongest interaction with TLR4.

Subcellular location. Endoplasmic reticulum.

Disease relevance. Developmental and epileptic encephalopathy 60 (DEE60) [MIM:617929] A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE60 is an autosomal recessive condition characterized by onset of seizures in the first months of life. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the canopy family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BT09-1	1	yes
Q9BT09-2	2

RefSeq proteins (4): NP_001305771, NP_001305774, NP_001305777, NP_006577* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021852	DUF3456	Domain

Pfam: PF11938

UniProt features (16 total): sequence variant 3, disulfide bond 3, splice variant 2, signal peptide 1, chain 1, sequence conflict 1, domain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BT09-F1	73.76	0.32

Functional residue map

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

Disulfide bonds (3): 49–206, 52–194, 104–166

Glycosylation sites (1): 153

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1679131	Trafficking and processing of endosomal TLR

MSigDB gene sets: 204 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GNF2_LYN, GTACAGG_MIR486, GNF2_MCL1, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, BLALOCK_ALZHEIMERS_DISEASE_UP, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP, GNF2_MYD88, HIF1_Q3, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, GOMF_SIGNALING_RECEPTOR_BINDING, ACEVEDO_LIVER_CANCER_UP, CTCAAGA_MIR526B, GOCC_ENDOPLASMIC_RETICULUM_LUMEN

GO Biological Process (2): innate immune response (GO:0045087), immune system process (GO:0002376)

GO Molecular Function (2): signaling receptor binding (GO:0005102), protein binding (GO:0005515)

GO Cellular Component (2): endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Toll-like Receptor Cascades	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
immune response	1
defense response to symbiont	1
biological_process	1
protein binding	1
binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

592 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CNPY3	LY96	Q9Y6Y9	878
CNPY3	TLR4	O00206	799
CNPY3	HSP90B1	P14625	773
CNPY3	UNC93B1	Q9H1C4	692
CNPY3	TLR1	Q15399	608
CNPY3	CNPY2	Q9Y2B0	577
CNPY3	CNPY1	Q3B7I2	518
CNPY3	LRIG3	Q6UXM1	493
CNPY3	GML	Q99445	481
CNPY3	TUBB8	Q3ZCM7	462
CNPY3	TLR9	Q9NR96	447
CNPY3	MZB1	Q8WU39	438
CNPY3	SFXN5	Q8TD22	428
CNPY3	LRIG2	O94898	420
CNPY3	TLR7	Q9NYK1	418

IntAct

129 interactions, top by confidence:

A	B	Type	Score
B3GNT3	PGRMC1	psi-mi:“MI:0914”(association)	0.670
LRRC32	SMPD2	psi-mi:“MI:0914”(association)	0.640
LRG1	CYCS	psi-mi:“MI:0914”(association)	0.620
SLITRK4	CNPY3	psi-mi:“MI:0915”(physical association)	0.590
CHAD	CNPY4	psi-mi:“MI:0914”(association)	0.560
FAM209A	CNPY3	psi-mi:“MI:0915”(physical association)	0.560
KCNJ6	CNPY3	psi-mi:“MI:0915”(physical association)	0.560
CLDN5	CNPY3	psi-mi:“MI:0915”(physical association)	0.560
GOLM1	CNPY3	psi-mi:“MI:0915”(physical association)	0.560
CNPY3	DMWD	psi-mi:“MI:0915”(physical association)	0.560
CNPY3	ATN1	psi-mi:“MI:0915”(physical association)	0.560
CNPY3		psi-mi:“MI:0915”(physical association)	0.560
GRN	CNPY3	psi-mi:“MI:0915”(physical association)	0.560
CNPY3	KLK6	psi-mi:“MI:0915”(physical association)	0.560
CNPY3	WFS1	psi-mi:“MI:0915”(physical association)	0.560
CNPY3	RNF11	psi-mi:“MI:0915”(physical association)	0.560
CNPY3	SPRED1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (244): PXDN (Affinity Capture-MS), LRRC1 (Affinity Capture-MS), SCRIB (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), SEPN1 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), COL14A1 (Affinity Capture-MS), SELT (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), CNPY3 (Proximity Label-MS), CNPY3 (Two-hybrid)

ESM2 similar proteins: A0A0L0P4F8, A3KNS2, A5GFQ5, A8XEA2, B2GUV7, B2W244, B4N0P7, C4QZ06, C4R7X8, C4R7X9, F2QQ67, F2QZ66, H3JU05, O17966, O60841, P04786, P06101, P07799, P08113, P11387, P14599, P35016, P41148, P41511, P93119, Q00313, Q04750, Q05D44, Q06BR2, Q07050, Q09261, Q0IF93, Q0P5N1, Q10651, Q27746, Q2L6K8, Q2L6L1, Q5HZV5, Q5RDE1, Q61712

Diamond homologs: A3KNS2, A5GFQ5, Q0P5N1, Q2L6K8, Q3SWX1, Q5HZV5, Q6GN40, Q8BQ47, Q8N129, Q9BT09, Q9DAU1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 128 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
Receptor-type tyrosine-protein phosphatases	5	32.1×	7e-05
Protein-protein interactions at synapses	7	20.9×	1e-05
Metabolism of carbohydrates and carbohydrate derivatives	8	10.8×	9e-05
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	8	7.8×	8e-04

GO biological processes:

GO term	Partners	Fold	FDR
toll-like receptor signaling pathway	6	30.4×	1e-05
positive regulation of synapse assembly	11	22.6×	1e-09
ERAD pathway	7	10.7×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	4
Uncertain significance	58
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
2502353	NM_006586.5(CNPY3):c.548del (p.Asn183fs)	Pathogenic
518429	NM_006586.5(CNPY3):c.373G>C (p.Gly125Arg)	Pathogenic
518431	NM_006586.5(CNPY3):c.495+1G>A	Pathogenic
4531228	NM_006586.5(CNPY3):c.361C>T (p.Arg121Ter)	Likely pathogenic
800988	NM_006586.5(CNPY3):c.496-3_496-2del	Likely pathogenic
870182	NM_006586.5(CNPY3):c.628C>T (p.Gln210Ter)	Likely pathogenic
932071	NM_006586.5(CNPY3):c.734_737del (p.Gln245fs)	Likely pathogenic

SpliceAI

1101 predictions. Top by Δscore:

Variant	Effect	Δscore
6:42929719:AAGGT:A	donor_loss	1.0000
6:42929720:AGGT:A	donor_loss	1.0000
6:42934473:A:AG	acceptor_gain	1.0000
6:42934474:G:GA	acceptor_gain	1.0000
6:42934474:GT:G	acceptor_gain	1.0000
6:42934474:GTGT:G	acceptor_gain	1.0000
6:42934594:AAGTC:A	donor_gain	1.0000
6:42934596:GTC:G	donor_gain	1.0000
6:42934599:G:GG	donor_gain	1.0000
6:42935568:TGGCA:T	acceptor_loss	1.0000
6:42935569:GGCA:G	acceptor_loss	1.0000
6:42935570:GCAG:G	acceptor_loss	1.0000
6:42935571:CAGG:C	acceptor_loss	1.0000
6:42935572:A:G	acceptor_loss	1.0000
6:42935572:AG:A	acceptor_gain	1.0000
6:42935573:G:GA	acceptor_loss	1.0000
6:42935573:GG:G	acceptor_gain	1.0000
6:42935642:A:T	donor_gain	1.0000
6:42935669:AG:A	donor_loss	1.0000
6:42935670:GGT:G	donor_loss	1.0000
6:42935672:T:G	donor_loss	1.0000
6:42937713:CCAG:C	acceptor_loss	1.0000
6:42937714:CAG:C	acceptor_loss	1.0000
6:42937715:A:AG	acceptor_gain	1.0000
6:42937715:AG:A	acceptor_gain	1.0000
6:42937716:G:A	acceptor_loss	1.0000
6:42937716:G:GG	acceptor_gain	1.0000
6:42937716:GG:G	acceptor_gain	1.0000
6:42937716:GGGC:G	acceptor_gain	1.0000
6:42937716:GGGCA:G	acceptor_gain	1.0000

AlphaMissense

1811 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:42935663:T:C	F122S	1.000
6:42935663:T:G	F122C	1.000
6:42937742:T:C	L133S	1.000
6:42937751:T:C	L136P	1.000
6:42937796:T:C	L151P	1.000
6:42937798:T:A	W152R	1.000
6:42937798:T:C	W152R	1.000
6:42937800:G:C	W152C	1.000
6:42937800:G:T	W152C	1.000
6:42937829:T:C	L162P	1.000
6:42934499:T:C	L59P	0.999
6:42935608:T:A	C104S	0.999
6:42935608:T:C	C104R	0.999
6:42935609:G:A	C104Y	0.999
6:42935609:G:C	C104S	0.999
6:42935610:C:G	C104W	0.999
6:42935635:C:G	H113D	0.999
6:42935662:T:C	F122L	0.999
6:42935664:T:A	F122L	0.999
6:42935664:T:G	F122L	0.999
6:42937733:T:G	F130C	0.999
6:42937762:G:T	G140W	0.999
6:42937784:T:C	I147T	0.999
6:42937799:G:C	W152S	0.999
6:42938090:T:C	C166R	0.999
6:42938091:G:A	C166Y	0.999
6:42938091:G:T	C166F	0.999
6:42938092:T:G	C166W	0.999
6:42938132:T:A	W180R	0.999
6:42938132:T:C	W180R	0.999

dbSNP variants (sampled 300 via entrez): RS1000205950 (6:42929646 C>G,T), RS1000504149 (6:42939401 C>A), RS1000873651 (6:42927337 A>G), RS1001068738 (6:42928873 T>C), RS1001174289 (6:42929450 C>A,T), RS1001736276 (6:42935791 C>G,T), RS1003127190 (6:42935058 G>A), RS1003306006 (6:42929978 T>C,G), RS1003514401 (6:42930625 C>A,G), RS1003608970 (6:42930339 C>G), RS1003676736 (6:42937235 G>A), RS1003796550 (6:42937562 G>A), RS1003808820 (6:42936824 C>T), RS1003867424 (6:42936540 T>C,G), RS1003871745 (6:42937895 G>A)

Disease associations

OMIM: gene MIM:610774 | disease phenotypes: MIM:617929

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental and epileptic encephalopathy, 60	Strong	Autosomal recessive
infantile spasms	Supportive	Autosomal dominant

Mondo (2): developmental and epileptic encephalopathy, 60 (MONDO:0033369), infantile spasms (MONDO:0018097)

Orphanet (0):

HPO phenotypes

6 total (6 of 6 shown, HPO-id order):

HPO	Term
HP:0000707	Abnormality of the nervous system
HP:0001336	Myoclonus
HP:0002376	Developmental regression
HP:0002521	Hypsarrhythmia
HP:0011121	Abnormal skin morphology
HP:0012469	Infantile spasms

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST009177_4	Entorhinal cortical volume	2.000000e-06
GCST010241_105	Apolipoprotein A1 levels	2.000000e-42
GCST010242_45	HDL cholesterol levels	8.000000e-15

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005092	entorhinal cortical volume
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067402 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.60	Kd	2508	nM	CHEMBL5653589
5.60	ED50	2508	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148101: Binding affinity to human CNPY3 incubated for 45 mins by Kinobead based pull down assay	kd	2.5078	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	3
bisphenol A	increases methylation, increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	increases expression	2
triphenyl phosphate	affects expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
avobenzone	increases expression	1
K 7174	decreases expression	1
fenpyroximate	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
ICG 001	decreases expression	1
abrine	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methyl Methanesulfonate	decreases expression	1
Selenium	increases expression	1
Dronabinol	increases expression	1
Vitamin E	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Antirheumatic Agents	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651143	Binding	Binding affinity to human CNPY3 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01413711	PHASE4	WITHDRAWN	An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms
NCT02092883	PHASE4	COMPLETED	Evaluation of Neuroinflammation in Children With Infantile Spasms
NCT01575639	PHASE3	COMPLETED	Prednisolone in Infantile Spasms- High Dose Versus Usual Dose
NCT01828437	PHASE3	COMPLETED	Addition of Pyridoxine to Prednisolone in Infantile Spasms
NCT02299115	PHASE3	WITHDRAWN	Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms
NCT02953548	PHASE3	COMPLETED	Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7)
NCT02954887	PHASE3	COMPLETED	Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7)
NCT00441896	PHASE2	COMPLETED	A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms
NCT00442104	PHASE2	TERMINATED	Open-label Extension to Protocol 1042-0500
NCT02829827	PHASE2	TERMINATED	A Phase 2 Study of Radiprodil in Subjects With Drug-resistant Infantile Spasms (IS)
NCT03976076	PHASE2	TERMINATED	A Study of Orally Administered JBPOS0101 in Refractory Infantile Spasms Patients
NCT06819670	PHASE2	RECRUITING	A Study to Prevent Infantile Spasms Relapse
NCT01006811	PHASE2/PHASE3	COMPLETED	Use of the Modified Atkins Diet in Infantile Spasms
NCT01549288	PHASE2/PHASE3	WITHDRAWN	Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy
NCT05279118	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Ketogenic Diet vs ACTH for the Treatment of Children With West Syndrome
NCT06201897	PHASE2/PHASE3	RECRUITING	Cortical Excitability in West Syndrome Using Transcranial Magnetic Stimulation
NCT00001325	Not specified	COMPLETED	Metabolic Abnormalities in Children With Epilepsy
NCT00552045	Not specified	COMPLETED	Epilepsy Phenome/Genome Project
NCT00968136	Not specified	COMPLETED	Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study
NCT01073579	Not specified	COMPLETED	Sabril Patient Registry
NCT01367964	Not specified	UNKNOWN	Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH)
NCT01723787	Not specified	COMPLETED	Genetic Studies in Patients and Families With Infantile Spasms
NCT02220114	Not specified	COMPLETED	Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy
NCT02885389	Not specified	COMPLETED	Molecular Genetics in Infantile Spasms
NCT04302116	Not specified	RECRUITING	Vigabatrin With High Dose Prednisolone Combination Therapy vs Vigabatrin Alone for Infantile Spasm
NCT05126914	Not specified	RECRUITING	Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents
NCT06315829	Not specified	COMPLETED	Artificial Intelligence-based Video Analysis to Detect Infantile Spasms