CYFIP1
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Also known as KIAA0068P140SRA-1SHYC
Summary
CYFIP1 (cytoplasmic FMR1 interacting protein 1, HGNC:13759) is a protein-coding gene on chromosome 15q11.2, encoding Cytoplasmic FMR1-interacting protein 1 (Q7L576). Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. It is a selective cancer dependency (DepMap: 11.8% of cell lines).
This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization. This protein also interacts with the synaptic functional regulator FMR1 protein and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion.
Source: NCBI Gene 23191 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 455 total — 80 pathogenic, 8 likely-pathogenic
- Phenotypes (HPO): 4
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 11.8% of screened cell lines
- MANE Select transcript:
NM_014608
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13759 |
| Approved symbol | CYFIP1 |
| Name | cytoplasmic FMR1 interacting protein 1 |
| Location | 15q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0068, P140SRA-1, SHYC |
| Ensembl gene | ENSG00000273749 |
| Ensembl biotype | protein_coding |
| OMIM | 606322 |
| Entrez | 23191 |
Gene structure
Transcript identifiers
Ensembl transcripts: 40 — 33 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay
ENST00000557890, ENST00000561263, ENST00000610365, ENST00000611832, ENST00000612288, ENST00000613006, ENST00000617556, ENST00000617928, ENST00000619037, ENST00000619290, ENST00000619348, ENST00000621036, ENST00000621105, ENST00000622576, ENST00000900858, ENST00000900859, ENST00000900860, ENST00000900861, ENST00000900862, ENST00000900863, ENST00000900864, ENST00000900865, ENST00000900866, ENST00000900867, ENST00000900868, ENST00000900869, ENST00000900870, ENST00000900871, ENST00000900872, ENST00000919971, ENST00000919972, ENST00000919973, ENST00000919974, ENST00000919975, ENST00000945409, ENST00000945410, ENST00000945411, ENST00000945412, ENST00000945413, ENST00000945414
RefSeq mRNA: 10 — MANE Select: NM_014608
NM_001033028, NM_001287810, NM_001324119, NM_001324120, NM_001324122, NM_001324123, NM_001324124, NM_001324125, NM_001324126, NM_014608
CCDS: CCDS73695, CCDS73696
Canonical transcript exons
ENST00000617928 — 31 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003508087 | 22873491 | 22873729 |
| ENSE00003687751 | 22874550 | 22874644 |
| ENSE00003713543 | 22947003 | 22947092 |
| ENSE00003716653 | 22917788 | 22917935 |
| ENSE00003721953 | 22943173 | 22943354 |
| ENSE00003722406 | 22875199 | 22875271 |
| ENSE00003723717 | 22909194 | 22909313 |
| ENSE00003723866 | 22932223 | 22932340 |
| ENSE00003731621 | 22980287 | 22980368 |
| ENSE00003732148 | 22925982 | 22926107 |
| ENSE00003732797 | 22910737 | 22910813 |
| ENSE00003733526 | 22937104 | 22937208 |
| ENSE00003734651 | 22939411 | 22939507 |
| ENSE00003736360 | 22927906 | 22928028 |
| ENSE00003738338 | 22916477 | 22916630 |
| ENSE00003738472 | 22903706 | 22903905 |
| ENSE00003742719 | 22944862 | 22944939 |
| ENSE00003743642 | 22914726 | 22914882 |
| ENSE00003744121 | 22872825 | 22872972 |
| ENSE00003744369 | 22944558 | 22944659 |
| ENSE00003745233 | 22912179 | 22912275 |
| ENSE00003746012 | 22881846 | 22881936 |
| ENSE00003746709 | 22933802 | 22933893 |
| ENSE00003750653 | 22939192 | 22939320 |
| ENSE00003750920 | 22918692 | 22918858 |
| ENSE00003750958 | 22892890 | 22892977 |
| ENSE00003751469 | 22882868 | 22883011 |
| ENSE00003751891 | 22879913 | 22880043 |
| ENSE00003752006 | 22867052 | 22870192 |
| ENSE00003753317 | 22910520 | 22910628 |
| ENSE00003754825 | 22947169 | 22947291 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.7736 / max 428.8543, expressed in 1797 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 148984 | 45.9884 | 1795 |
| 148983 | 2.5132 | 1359 |
| 148985 | 0.2604 | 133 |
| 148981 | 0.0116 | 2 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| esophagus squamous epithelium | UBERON:0006920 | 99.23 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.03 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 99.03 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.90 | gold quality |
| parietal pleura | UBERON:0002400 | 98.89 | gold quality |
| visceral pleura | UBERON:0002401 | 98.89 | gold quality |
| pleura | UBERON:0000977 | 98.76 | gold quality |
| gingiva | UBERON:0001828 | 98.71 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.58 | gold quality |
| oral cavity | UBERON:0000167 | 98.42 | gold quality |
| tibia | UBERON:0000979 | 98.37 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.21 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.20 | gold quality |
| skin of hip | UBERON:0001554 | 98.07 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.95 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.95 | gold quality |
| upper leg skin | UBERON:0004262 | 97.69 | gold quality |
| caput epididymis | UBERON:0004358 | 97.59 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.49 | gold quality |
| mammalian vulva | UBERON:0000997 | 97.45 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 97.43 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 97.41 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 97.40 | gold quality |
| renal glomerulus | UBERON:0000074 | 97.32 | gold quality |
| pericardium | UBERON:0002407 | 97.31 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 97.26 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.25 | gold quality |
| mammary duct | UBERON:0001765 | 97.24 | gold quality |
| cauda epididymis | UBERON:0004360 | 97.22 | gold quality |
| penis | UBERON:0000989 | 97.15 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 30.61 |
| E-HCAD-25 | yes | 16.69 |
| E-CURD-112 | yes | 14.79 |
| E-ANND-3 | yes | 14.01 |
| E-GEOD-111727 | no | 617.37 |
| E-MTAB-2983 | no | 397.34 |
| E-CURD-10 | no | 184.17 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): EOMES
miRNA regulators (miRDB)
29 targeting CYFIP1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-133A-5P | 99.28 | 69.13 | 941 |
| HSA-MIR-196A-3P | 99.19 | 67.34 | 1204 |
| HSA-MIR-8065 | 99.19 | 70.38 | 1289 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-1304-3P | 98.29 | 66.44 | 1207 |
| HSA-MIR-4659A-5P | 98.03 | 66.42 | 819 |
| HSA-MIR-4659B-5P | 98.03 | 66.84 | 979 |
| HSA-MIR-1285-5P | 98.01 | 68.71 | 779 |
| HSA-MIR-1243 | 97.07 | 65.44 | 719 |
| HSA-MIR-6839-5P | 96.74 | 68.29 | 1088 |
| HSA-MIR-4695-3P | 96.71 | 67.21 | 836 |
| HSA-MIR-378J | 96.44 | 66.20 | 1020 |
| HSA-MIR-2114-5P | 96.00 | 64.56 | 617 |
| HSA-MIR-5739 | 88.09 | 63.94 | 123 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 11.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 28)
- located in the genomic domain between break points 1 and 2 on chromosome 15, of the Prader-Willi/Angelman syndromes (PMID:14508708)
- CRMP-2 transports the Sra-1/WAVE1 complex to axons in a kinesin-1-dependent manner and thereby regulates axon outgrowth and formation (PMID:16260607)
- quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5 in Prader-Willi syndrome and correlated levels with psychological and behavior scales (PMID:16982806)
- Study found that Cyfip1, a subunit of the WAVE complex, which regulates cytoskeletal dynamics, is commonly deleted in human epithelial cancers. (PMID:19524508)
- Protein complexes containing CYFIP/Sra/PIR121 coordinate Arf1 and Rac1 signalling during clathrin-AP-1-coated carrier biogenesis at the trans-golgi network. (PMID:20228810)
- An imbalance of specific isoforms of CYFIP1, an FMRP interaction partner, and CAMK4, a transcriptional regulator of the FMRP gene, modulates risk for autism spectrum disorders. (PMID:24442360)
- haploinsufficiency causes cell polarity defects via WAVE complex destabilization; genetic polymorphism is associated with schizophrenia (PMID:24996170)
- This study confirmed that CYFIP2 were altered in postsynaptic density in patient with schizophrenia. (PMID:25048004)
- Data confirm that CYFIP1 is upregulated in transformed lymphoblastoid cell lines and demonstrate its upregulation in the post-mortem brain from 15q11-13 duplication patients for the first time (PMID:25311365)
- Both mRNA and protein expression levels of Cyfip1 were significantly lower in ALL patients. (PMID:26779626)
- Reduced CYFIP1 in human neural progenitors results in dysregulation of schizophrenia and epilepsy gene networks. (PMID:26824476)
- Hippocampal synapses with reduced Cyfip1 are larger and release neurotransmitter more rapidly. (PMID:26843638)
- rs4778298, a common variant at CYFIP1 is associated with inter-individual variation in surface area across the left supramarginal gyrus. (PMID:27351196)
- we show that stapled peptides targeting the interface between NCKAP1 and CYFIP1 destabilize the WASF3 complex… thereby suppressing invasion and metastasis of breast cancer cells. (PMID:27432794)
- The studies suggest that MNK-eiF4E axis controls the translation of specific mRNAs in cancer metastasis and neuronal synaptic plasticity by a novel mechanism involving the regulation of the translational repressor, CYFIP1. (Review) (PMID:27527252)
- Surprisingly, Rac1 is not located at the binding site on the Sra1 subunit of the WAVE regulatory complex previously identified by mutagenesis and biochemical data. Rather, it binds to a distinct, conserved site on the opposite end of Sra1. (PMID:28949297)
- The expression level of Cyfip1 mRNA was significantly lower in patients with nasopharyngeal carcinoma than in the control samples. Low expression level of Cyfip1 mRNA was significantly associated with invasive range, lymph node metastasis, distant metastases, and clinical stage. (PMID:29534591)
- A novel regulatory mechanism of p53 in early onset breast cancer progression through GAS7-CYFIP1-mediated signaling pathways. (PMID:29706651)
- The current study provides further supports for contribution of CYFIP1/2 in the pathogenesis of autism spectrum disorder (ASD) and potentiates it as a peripheral marker for ASD diagnosis. (PMID:29752658)
- CYFIP1 gene expression was upregulated in the blood of epileptic patients. (PMID:29992499)
- this research identifies the behavioral and molecular consequences of CYFIP1 overexpression. (PMID:31198525)
- The human studies revealed profound deficits in grammatical reasoning, arithmetic reasoning, and working memory in BP1-BP2 (TUBGCP5, CYFIP1, NIPA2, and NIPA1) deletion carriers. (PMID:31202490)
- Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders. (PMID:31705895)
- Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms. (PMID:34031371)
- Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders. (PMID:34327661)
- Loss of Function in the Neurodevelopmental Disease and Schizophrenia-Associated Gene CYFIP1 in Human Microglia-like Cells Supports a Functional Role in Synaptic Engulfment. (PMID:37573007)
- Different dysregulations of CYFIP1 and CYFIP2 in distinct types of dementia. (PMID:38128786)
- Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma. (PMID:38427078)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cyfip1 | ENSDARG00000044345 |
| mus_musculus | Cyfip1 | ENSMUSG00000030447 |
| rattus_norvegicus | Cyfip1 | ENSRNOG00000011945 |
| drosophila_melanogaster | Cyfip | FBGN0038320 |
| caenorhabditis_elegans | WBGENE00001579 |
Paralogs (1): CYFIP2 (ENSG00000055163)
Protein
Protein identifiers
Cytoplasmic FMR1-interacting protein 1 — Q7L576 (reviewed: Q7L576)
Alternative names: Specifically Rac1-associated protein 1, p140sra-1
All UniProt accessions (7): A0A087WU52, A0A087WVZ5, Q7L576, A0A087WWL1, A0A087WWY5, A0A087WZ89, H0YL50
UniProt curated annotations — full annotation on UniProt →
Function. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR1 in brain probably by mediating its association with EIF4E and mRNA. Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. Regulator of epithelial morphogenesis. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes. May act as an invasion suppressor in cancers.
Subunit / interactions. Component of the WAVE1 complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within the complex, a heterodimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and BRK1. Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with FMR1 but does not bind to related proteins FXR1 or FXR2. Interaction with EIF4E stimulates FMR1 binding. Component of the WAVE2 complex composed of ABI1, CYFIP1/SRA1, NCKAP1/NAP1 (NCKAP1l/HEM1 in hematopoietic cells) and WASF2/WAVE2. Interacts with the active GTP-bound form of RAC1. Interacts through its C-terminus with the C-terminus of DPYSL2/CRMP2 which is necessary for DPYSL2-induced axon outgrowth. Interacts with NYAP1, NYAP2 and MYO16. Interacts with TMEM108 (via N-terminus); the interaction associates TMEM108 with the WAVE1 complex.
Subcellular location. Cytoplasm. Perinuclear region. Cell projection. Lamellipodium. Ruffle. Synapse. Synaptosome.
Miscellaneous. Breakpoint hotspot for the Prader-Willi/Angelman syndromes and may be implicated in autism. Commonly altered in tumors.
Similarity. Belongs to the CYFIP family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7L576-1 | 1, 3 | yes |
| Q7L576-2 | 2, 4 | |
| Q7L576-3 | 3, 5 |
RefSeq proteins (10): NP_001028200, NP_001274739, NP_001311048, NP_001311049, NP_001311051, NP_001311052, NP_001311053, NP_001311054, NP_001311055, NP_055423* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008081 | Cytoplasmic_FMR1-int | Family |
| IPR009828 | CYRIA/CYRIB_Rac1-bd | Domain |
Pfam: PF05994, PF07159
UniProt features (119 total): helix 68, strand 19, turn 10, mutagenesis site 9, sequence conflict 4, splice variant 3, sequence variant 3, modified residue 2, chain 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3P8C | X-RAY DIFFRACTION | 2.29 |
| 4N78 | X-RAY DIFFRACTION | 2.43 |
| 7USC | ELECTRON MICROSCOPY | 3 |
| 7USD | ELECTRON MICROSCOPY | 3 |
| 7USE | ELECTRON MICROSCOPY | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7L576-F1 | 90.24 | 0.72 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 583, 1234
Mutagenesis-validated functional residues (9):
| Position | Phenotype |
|---|---|
| 190 | reduced interaction with rac1. |
| 434 | reduced interaction with rac1; when associated with a-626. |
| 626 | reduced interaction with rac1; when associated with k-434. |
| 632 | reduced interaction with rac1. |
| 697 | constitutive induction of the formation of actin filaments; when associated with d-704. |
| 704 | constitutive induction of the formation of actin filaments; when associated with d-697. |
| 841 | constitutive induction of the formation of actin filaments; when associated with 844-a-a-845. |
| 844–845 | constitutive induction of the formation of actin filaments; when associated with a-841. |
| 179 | reduced interaction with rac1. |
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-2029482 | Regulation of actin dynamics for phagocytic cup formation |
| R-HSA-4420097 | VEGFA-VEGFR2 Pathway |
| R-HSA-5663213 | RHO GTPases Activate WASPs and WAVEs |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-9013149 | RAC1 GTPase cycle |
| R-HSA-9013404 | RAC2 GTPase cycle |
| R-HSA-9013408 | RHOG GTPase cycle |
| R-HSA-9013423 | RAC3 GTPase cycle |
| R-HSA-9664422 | FCGR3A-mediated phagocytosis |
MSigDB gene sets: 385 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_COGNITION, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_REGULATION_OF_ACTIN_NUCLEATION, GOCC_SECRETORY_GRANULE, GOBP_GROWTH, GOBP_NEUROGENESIS, GOCC_RUFFLE, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS
GO Biological Process (20): cell morphogenesis (GO:0000902), regulation of translation (GO:0006417), axon guidance (GO:0007411), regulation of cell shape (GO:0008360), positive regulation of lamellipodium assembly (GO:0010592), Rac protein signal transduction (GO:0016601), lamellipodium assembly (GO:0030032), regulation of actin filament polymerization (GO:0030833), ruffle organization (GO:0031529), axon extension (GO:0048675), cognition (GO:0050890), positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388), dendrite extension (GO:0097484), regulation of translation at postsynapse, modulating synaptic transmission (GO:0099578), regulation of modification of postsynaptic actin cytoskeleton (GO:1905274), positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601), nervous system development (GO:0007399), negative regulation of translation (GO:0017148), cell differentiation (GO:0030154), neuron projection development (GO:0031175)
GO Molecular Function (6): RNA 7-methylguanosine cap binding (GO:0000340), translation repressor activity (GO:0030371), small GTPase binding (GO:0031267), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (17): ruffle (GO:0001726), extracellular region (GO:0005576), cytosol (GO:0005829), focal adhesion (GO:0005925), lamellipodium (GO:0030027), SCAR complex (GO:0031209), secretory granule lumen (GO:0034774), specific granule lumen (GO:0035580), neuron projection (GO:0043005), synapse (GO:0045202), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), postsynapse (GO:0098794), tertiary granule lumen (GO:1904724), cytoplasm (GO:0005737), cell leading edge (GO:0031252), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 4 |
| Fcgamma receptor (FCGR) dependent phagocytosis | 1 |
| Signaling by VEGF | 1 |
| RHO GTPase Effectors | 1 |
| Innate Immune System | 1 |
| Leishmania phagocytosis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 7 |
| translation | 3 |
| plasma membrane bounded cell projection | 3 |
| cytoplasm | 3 |
| axonogenesis | 2 |
| plasma membrane bounded cell projection organization | 2 |
| neuron projection extension | 2 |
| cell leading edge | 2 |
| anatomical structure morphogenesis | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| neuron projection guidance | 1 |
| regulation of cell morphogenesis | 1 |
| regulation of biological quality | 1 |
| regulation of lamellipodium assembly | 1 |
| lamellipodium assembly | 1 |
| positive regulation of plasma membrane bounded cell projection assembly | 1 |
| positive regulation of lamellipodium organization | 1 |
| small GTPase-mediated signal transduction | 1 |
| lamellipodium organization | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| regulation of actin polymerization or depolymerization | 1 |
| actin filament polymerization | 1 |
| regulation of protein polymerization | 1 |
| nervous system process | 1 |
| positive regulation of signal transduction | 1 |
| neurotrophin TRK receptor signaling pathway | 1 |
| regulation of neurotrophin TRK receptor signaling pathway | 1 |
| chemical synaptic transmission | 1 |
| postsynapse | 1 |
| postsynaptic modulation of chemical synaptic transmission | 1 |
| regulation of translation at synapse, modulating synaptic transmission | 1 |
| regulation of translation at postsynapse | 1 |
| modification of postsynaptic actin cytoskeleton | 1 |
| regulation of modification of postsynaptic structure | 1 |
| Arp2/3 complex-mediated actin nucleation | 1 |
| regulation of Arp2/3 complex-mediated actin nucleation | 1 |
| positive regulation of actin nucleation | 1 |
| system development | 1 |
| regulation of translation | 1 |
Protein interactions and networks
STRING
1668 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CYFIP1 | NCKAP1 | Q9Y2A7 | 998 |
| CYFIP1 | FMR1 | Q06787 | 998 |
| CYFIP1 | BRK1 | Q8WUW1 | 998 |
| CYFIP1 | FXR2 | P51116 | 997 |
| CYFIP1 | ABI1 | Q8IZP0 | 997 |
| CYFIP1 | ABI2 | Q9NYB9 | 996 |
| CYFIP1 | FXR1 | P51114 | 996 |
| CYFIP1 | NCKAP1L | P55160 | 995 |
| CYFIP1 | WASF1 | Q92558 | 995 |
| CYFIP1 | EIF4E | P06730 | 988 |
| CYFIP1 | WASF2 | Q9Y6W5 | 981 |
| CYFIP1 | NIPA2 | Q8N8Q9 | 973 |
| CYFIP1 | TUBGCP5 | Q96RT8 | 973 |
| CYFIP1 | NIPA1 | Q7RTP0 | 965 |
| CYFIP1 | ABI3 | Q9P2A4 | 963 |
IntAct
218 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NCKAP1 | CYFIP1 | psi-mi:“MI:0915”(physical association) | 0.900 |
| CYFIP1 | NCKAP1 | psi-mi:“MI:0407”(direct interaction) | 0.900 |
| CYFIP1 | NCKAP1 | psi-mi:“MI:0915”(physical association) | 0.900 |
| EIF4E | psi-mi:“MI:0914”(association) | 0.880 | |
| ABI2 | CYFIP1 | psi-mi:“MI:0915”(physical association) | 0.870 |
| BAIAP2 | YWHAQ | psi-mi:“MI:0914”(association) | 0.740 |
| BRK1 | HSBP1 | psi-mi:“MI:0914”(association) | 0.740 |
| CYFIP1 | ABI1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| NCKAP1 | YWHAH | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| IKBIP | SNAPIN | psi-mi:“MI:0914”(association) | 0.670 |
| NCK2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.640 |
| WASF1 | CYFIP1 | psi-mi:“MI:0914”(association) | 0.640 |
| BRK1 | CYFIP1 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (270): CYFIP1 (Affinity Capture-MS), CYFIP1 (Affinity Capture-MS), CYFIP1 (Affinity Capture-MS), CYFIP1 (Affinity Capture-MS), CYFIP1 (Affinity Capture-MS), CYFIP1 (Affinity Capture-MS), BZW2 (Co-fractionation), CYFIP1 (Co-fractionation), CYFIP1 (Co-fractionation), CYFIP1 (Co-fractionation), CYFIP1 (Co-fractionation), CYFIP1 (Co-fractionation), CYFIP1 (Co-fractionation), FNBP1L (Co-fractionation), TRIP10 (Co-fractionation)
ESM2 similar proteins: A1CGW7, A1CXW3, A1Z7L1, A7RU46, B0S6R1, F1QJX5, F1QN74, F6WXT2, O44518, P28660, P55160, P55161, P55162, P55163, Q0CL68, Q16X15, Q23658, Q24134, Q299G2, Q2UG94, Q4WNQ6, Q54IR8, Q54R74, Q5R414, Q5S2C3, Q5SQX6, Q5U430, Q5XHG1, Q60PC0, Q640K3, Q6GQD1, Q6PFJ7, Q6PI53, Q6UK63, Q6ZBH9, Q7L576, Q7Q6D9, Q7TMB8, Q869Q3, Q8IQV9
Diamond homologs: O44518, Q299G2, Q5R414, Q5SQX6, Q6GQD1, Q6UK63, Q7L576, Q7TMB8, Q90YM8, Q96F07, Q9VF87, Q5S2C3
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CYFIP1 | “form complex” | “WRC complex” | binding |
| CYFIP1 | “up-regulates activity” | NHS | binding |
| CYFIP1 | “form complex” | “WAVE complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 168 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 |
|---|---|---|---|
| RHO GTPases Activate WASPs and WAVEs | 15 | 42.9× | 8e-19 |
| Activation of BAD and translocation to mitochondria | 5 | 34.3× | 8e-06 |
| Parasite infection | 10 | 31.2× | 5e-11 |
| Leishmania phagocytosis | 10 | 31.2× | 5e-11 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 5 | 30.3× | 1e-05 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 5 | 30.3× | 1e-05 |
| FCGR3A-mediated phagocytosis | 16 | 27.0× | 7e-17 |
| Regulation of actin dynamics for phagocytic cup formation | 16 | 26.6× | 7e-17 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| Rac protein signal transduction | 7 | 27.3× | 3e-06 |
| positive regulation of lamellipodium assembly | 5 | 20.9× | 6e-04 |
| lamellipodium assembly | 6 | 18.5× | 2e-04 |
| positive regulation of actin filament polymerization | 7 | 16.1× | 1e-04 |
| cell motility | 5 | 13.9× | 2e-03 |
| neuron projection morphogenesis | 7 | 13.4× | 2e-04 |
| small GTPase-mediated signal transduction | 6 | 7.6× | 9e-03 |
| intracellular protein localization | 10 | 7.3× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
455 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 80 |
| Likely pathogenic | 8 |
| Uncertain significance | 233 |
| Likely benign | 34 |
| Benign | 37 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1012382 | GRCh37/hg19 15q11.2-12(chr15:22833525-27193380)x4 | Pathogenic |
| 1175875 | GRCh37/hg19 15q11.2(chr15:22833525-23264865)x1 | Pathogenic |
| 1328464 | GRCh37/hg19 15q11.2(chr15:22832874-23223352)x1 | Pathogenic |
| 1330198 | GRCh37/hg19 15q11.2(chr15:22743127-23246000)x1 | Pathogenic |
| 1339977 | GRCh37/hg19 15q11.2(chr15:22770421-23625677)x1 | Pathogenic |
| 1340320 | GRCh37/hg19 15q11.2(chr15:22770422-23195725)x1 | Pathogenic |
| 146208 | GRCh38/hg38 15q11.2(chr15:22787972-23107440)x1 | Pathogenic |
| 1694765 | GRCh37/hg19 15q11.2(chr15:22833525-23265556)x1 | Pathogenic |
| 1705939 | GRCh37/hg19 15q11.2(chr15:22770421-25648680)x1 | Pathogenic |
| 1707411 | Single allele | Pathogenic |
| 1708197 | GRCh37/hg19 15q11.2(chr15:22770421-23288487)x3 | Pathogenic |
| 1708267 | Single allele | Pathogenic |
| 1711393 | GRCh37/hg19 15q11.2(chr15:22736246-23265381)x1 | Pathogenic |
| 1808466 | GRCh37/hg19 15q11.2(chr15:22770422-23082442)x1 | Pathogenic |
| 1808506 | GRCh37/hg19 15q11.2(chr15:22770422-23082328)x1 | Pathogenic |
| 1879312 | GRCh37/hg19 15q11.2(chr15:22833525-23262343)x1 | Pathogenic |
| 1879313 | GRCh37/hg19 15q11.2(chr15:22833525-23264190)x1 | Pathogenic |
| 2498628 | GRCh37/hg19 15q11.2(chr15:22070540-23262343)x1 | Pathogenic |
| 2506528 | GRCh37/hg19 15q11.2(chr15:22833525-23412276) | Pathogenic |
| 252972 | GRCh37/hg19 15q11.2(chr15:22427966-23226254)x1 | Pathogenic |
| 2570914 | GRCh37/hg19 15q11.2(chr15:22833499-23577516)x1 | Pathogenic |
| 2570915 | GRCh37/hg19 15q11.2(chr15:22833525-23412276)x1 | Pathogenic |
| 2574676 | GRCh37/hg19 15q11.2(chr15:22770421-23282799) | Pathogenic |
| 2574691 | GRCh37/hg19 15q11.2(chr15:22770421-23195725) | Pathogenic |
| 2580327 | GRCh37/hg19 15q11.2(chr15:22744149-23246340)x1 | Pathogenic |
| 2663903 | GRCh38/hg38 15q11.2(chr15:22542702-23121344)x1 | Pathogenic |
| 2671614 | Single allele | Pathogenic |
| 2685502 | GRCh37/hg19 15q11.2(chr15:22770422-23679133)x1 | Pathogenic |
| 3024383 | GRCh38/hg38 15q11.2(chr15:22633497-23084434) | Pathogenic |
| 3024585 | GRCh37/hg19 15q11.2(chr15:22757538-23411062)x1 | Pathogenic |
SpliceAI
6245 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:22870191:G:GG | acceptor_gain | 1.0000 |
| 15:22870191:GCC:G | acceptor_gain | 1.0000 |
| 15:22870192:A:AG | acceptor_gain | 1.0000 |
| 15:22870199:T:TA | acceptor_gain | 1.0000 |
| 15:22872842:A:G | donor_gain | 1.0000 |
| 15:22872971:GGCA:G | acceptor_gain | 1.0000 |
| 15:22873488:G:GG | donor_gain | 1.0000 |
| 15:22873490:GA:G | donor_gain | 1.0000 |
| 15:22873493:GTCGA:G | donor_gain | 1.0000 |
| 15:22874643:G:GG | acceptor_gain | 1.0000 |
| 15:22874644:A:AG | acceptor_gain | 1.0000 |
| 15:22875195:T:G | donor_loss | 1.0000 |
| 15:22875196:G:T | donor_loss | 1.0000 |
| 15:22875197:GGT:G | donor_loss | 1.0000 |
| 15:22875198:AGG:A | donor_loss | 1.0000 |
| 15:22875199:AAGG:A | donor_loss | 1.0000 |
| 15:22875270:G:C | acceptor_loss | 1.0000 |
| 15:22875270:G:GA | acceptor_gain | 1.0000 |
| 15:22875270:GT:G | acceptor_gain | 1.0000 |
| 15:22875270:GTCT:G | acceptor_gain | 1.0000 |
| 15:22875271:A:AG | acceptor_gain | 1.0000 |
| 15:22875273:CTA:C | acceptor_loss | 1.0000 |
| 15:22875274:TCTA:T | acceptor_loss | 1.0000 |
| 15:22879910:G:A | donor_loss | 1.0000 |
| 15:22879910:G:GG | donor_gain | 1.0000 |
| 15:22879911:GG:G | donor_gain | 1.0000 |
| 15:22879912:TG:T | donor_gain | 1.0000 |
| 15:22879912:TGG:T | donor_loss | 1.0000 |
| 15:22879913:CTG:C | donor_gain | 1.0000 |
| 15:22879914:CCTG:C | donor_gain | 1.0000 |
AlphaMissense
8315 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:22872956:C:A | G1156W | 1.000 |
| 15:22872961:C:A | G1154V | 1.000 |
| 15:22872961:C:T | G1154D | 1.000 |
| 15:22873544:A:C | S1132R | 1.000 |
| 15:22873544:A:T | S1132R | 1.000 |
| 15:22873546:T:G | S1132R | 1.000 |
| 15:22873549:A:G | W1131R | 1.000 |
| 15:22873549:A:T | W1131R | 1.000 |
| 15:22875249:A:G | L1022P | 1.000 |
| 15:22879949:G:C | N1002K | 1.000 |
| 15:22879949:G:T | N1002K | 1.000 |
| 15:22879953:C:T | G1001E | 1.000 |
| 15:22879954:C:A | G1001W | 1.000 |
| 15:22879954:C:G | G1001R | 1.000 |
| 15:22879954:C:T | G1001R | 1.000 |
| 15:22879962:C:G | R998P | 1.000 |
| 15:22880016:A:G | L980P | 1.000 |
| 15:22881858:A:G | Y967H | 1.000 |
| 15:22903706:C:G | R863P | 1.000 |
| 15:22903754:A:G | L847P | 1.000 |
| 15:22910806:A:G | L697P | 1.000 |
| 15:22912184:C:G | A693P | 1.000 |
| 15:22914775:A:G | W646R | 1.000 |
| 15:22914775:A:T | W646R | 1.000 |
| 15:22914797:G:C | F638L | 1.000 |
| 15:22914797:G:T | F638L | 1.000 |
| 15:22914798:A:G | F638S | 1.000 |
| 15:22914799:A:G | F638L | 1.000 |
| 15:22914822:A:G | L630P | 1.000 |
| 15:22914828:A:G | L628P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000047677 (15:22897596 G>A), RS1000050554 (15:22917952 G>A,C), RS1000081339 (15:22978462 A>C), RS1000117353 (15:22898827 C>T), RS1000118346 (15:22953587 T>A), RS1000131523 (15:22973267 T>C), RS1000137424 (15:22962665 A>C), RS1000166391 (15:22889509 C>A), RS1000179803 (15:22928290 G>C), RS1000214019 (15:22949044 C>G,T), RS1000218608 (15:22966280 G>A), RS1000243436 (15:22869054 A>T), RS1000244864 (15:22928185 A>G), RS1000260259 (15:22932428 G>A,T), RS1000293716 (15:22879361 C>T)
Disease associations
OMIM: gene MIM:606322 | disease phenotypes: MIM:615656, MIM:241550, MIM:257350, MIM:608636, MIM:209850, MIM:108800, MIM:176270, MIM:181500
GenCC curated gene-disease
Mondo (15): chromosome 15q11.2 deletion syndrome (MONDO:0014294), neurodevelopmental disorder (MONDO:0700092), hypoplastic left heart syndrome 1 (MONDO:0009433), cystic hygroma (MONDO:0009761), 15q11q13 microduplication syndrome (MONDO:0012081), epilepsy (MONDO:0005027), autism spectrum disorder (MONDO:0005258), strabismus (MONDO:0003432), autism (MONDO:0005260), atrial septal defect (MONDO:0006664), Prader-Willi syndrome (MONDO:0008300), thrombocytopenia (MONDO:0002049), hypertensive disorder (MONDO:0005044), obesity disorder (MONDO:0011122), schizophrenia (MONDO:0005090)
Orphanet (10): 15q11.2 microdeletion syndrome (Orphanet:261183), Hypoplastic left heart syndrome (Orphanet:2248), 15q11q13 microduplication syndrome (Orphanet:238446), Interatrial communication (Orphanet:1478), Prader-Willi syndrome (Orphanet:739), Obesity due to melanocortin 4 receptor deficiency (Orphanet:71529), Cystic hygroma (Orphanet:79486), NON RARE IN EUROPE: Autism (Orphanet:106), NON RARE IN EUROPE: Non rare obesity (Orphanet:521399), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
| HP:0000822 | Hypertension |
| HP:0001513 | Obesity |
| HP:0100753 | Schizophrenia |
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006979_1017 | Heel bone mineral density | 1.000000e-12 |
| GCST009615_16 | Triglyceride levels x loop diuretics use interaction | 4.000000e-07 |
| GCST009615_17 | Triglyceride levels x loop diuretics use interaction | 3.000000e-06 |
| GCST010116_1 | World class endurance athleticism | 9.000000e-06 |
| GCST012306_11 | Bipolar disorder | 1.000000e-06 |
| GCST90002401_87 | Platelet distribution width | 1.000000e-21 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009270 | heel bone mineral density |
| EFO:0004530 | triglyceride measurement |
| EFO:0007818 | athletic endurance measurement |
| EFO:0007984 | platelet component distribution width |
MeSH disease descriptors (9)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
| D004827 | Epilepsy | C10.228.140.490 |
| D006344 | Heart Septal Defects, Atrial | C14.240.400.560.375; C14.280.400.560.375; C16.131.240.400.560.375 |
| D006973 | Hypertension | C14.907.489 |
| D018191 | Lymphangioma, Cystic | C04.557.375.450.450 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| D011218 | Prader-Willi Syndrome | C10.597.606.360.690; C16.131.077.730; C16.131.260.700; C16.320.180.700; C16.320.447.500; C18.654.726.750.500.740 |
| D013285 | Strabismus | C10.292.562.887; C11.590.810 |
| D013921 | Thrombocytopenia | C15.378.140.855; C15.378.243.937 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724762 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.25 | Kd | 5.638 | nM | CHEMBL3752910 |
| 8.25 | ED50 | 5.638 | nM | CHEMBL3752910 |
| 5.56 | Kd | 2745 | nM | CHEMBL5653589 |
| 5.56 | ED50 | 2745 | nM | CHEMBL5653589 |
PubChem BioAssay actives
2 with measured affinity, of 10 total; 2 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 | 2148189: Binding affinity to human CYFIP1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0056 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148189: Binding affinity to human CYFIP1 incubated for 45 mins by Kinobead based pull down assay | kd | 2.7453 | uM |
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases methylation | 4 |
| bisphenol A | affects cotreatment, increases methylation, increases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment, increases expression | 2 |
| Smoke | decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| pyrogallol 1,3-dimethyl ether | decreases expression, affects cotreatment | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium bichromate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| belinostat | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Benzoates | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | increases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651231 | Binding | Binding affinity to human CYFIP1 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)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT00004637 | PHASE4 | COMPLETED | Double-Blind, Placebo-Controlled Trial of Vitamin E as Add-on Therapy for Children With Epilepsy |
| NCT00043914 | PHASE4 | COMPLETED | Measurement Of Serum Levels Of Two Antiepileptic Drugs During Conversion In Patients With Epilepsy |
| NCT00132223 | PHASE4 | UNKNOWN | Effects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients |
| NCT00133081 | PHASE4 | UNKNOWN | Study to Improve the Treatment of Epilepsy (SITE) |
| NCT00137709 | PHASE4 | UNKNOWN | Hormone Profiles in Adults With Newly Diagnosed Epilepsy |
| NCT00154076 | PHASE4 | COMPLETED | A Multicenter Comparative Trial of Zonisamide and Topiramate as Initial Monotherapy in Untreated Epilepsies |
| NCT00165828 | PHASE4 | TERMINATED | Efficacy and Safety of an add-on Treatment With Zonisamide in Adults With Focal Epileptic Seizures With or Without Secondary Generalization |
| NCT00181116 | PHASE4 | COMPLETED | Levetiracetam for Benign Rolandic Epilepsy |
| NCT00207935 | PHASE4 | COMPLETED | Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population |
| NCT00215592 | PHASE4 | COMPLETED | Open Label, Zonegran (Zonisamide) In Partial Onset Seizures |
| NCT00266604 | PHASE4 | COMPLETED | A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy |
| NCT00288639 | PHASE4 | COMPLETED | Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER). |
| NCT00312676 | PHASE4 | UNKNOWN | Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote |
| NCT00323947 | PHASE4 | COMPLETED | Methylphenidate for Treating Attention Deficit Hyperactivity Disorder in Children With Both ADHD and Epilepsy |
| NCT00385411 | PHASE4 | COMPLETED | Study of Valproate in Young Patients Suffering From Epilepsy |
| NCT00522418 | PHASE4 | TERMINATED | Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients |
| NCT00537940 | PHASE4 | COMPLETED | Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures |
| NCT00552526 | PHASE4 | UNKNOWN | Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy |
| NCT00564915 | PHASE4 | COMPLETED | RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy |
| NCT00571155 | PHASE4 | COMPLETED | Trial of Levetiracetam in Patients With Primary Brain Tumors and Symptomatic Seizures Who Undergo Surgery |
| NCT00572195 | PHASE4 | COMPLETED | RNS® System LTT Study |
| NCT00610532 | PHASE4 | TERMINATED | Evaluating the Transporter Protein Inhibitor Probenecid In Patients With Epilepsy |
| NCT00630357 | PHASE4 | COMPLETED | Trial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy |
| NCT00630630 | PHASE4 | COMPLETED | Study on Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Female Subjects With C1 Catamenial Epilepsy |
| NCT00630968 | PHASE4 | COMPLETED | S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy |
| NCT00631150 | PHASE4 | COMPLETED | A Phase IV-Pharmacovigilance Study of Keppra Greece - S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy |
| NCT00659958 | PHASE4 | COMPLETED | ZAGAL Study: Evaluating Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs |
| NCT00713622 | PHASE4 | COMPLETED | Comparing The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate |
| NCT00807989 | PHASE4 | COMPLETED | The Efficacy and Safety of Low Dose Combination of LTG and VPA Compared to CBZ Monotherapy |
| NCT00832884 | PHASE4 | COMPLETED | The Safety of Intravenous Lacosamide |
| NCT00869622 | PHASE4 | COMPLETED | Antiepileptic Drugs and Osteoporotic Prevention Trial |
| NCT00896987 | PHASE4 | COMPLETED | Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies |
| NCT00952081 | PHASE4 | COMPLETED | A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients |
| NCT01118455 | PHASE4 | TERMINATED | Trial to Assess Vagus Nerve Stimulation Therapy vs. Anti-Epileptic Drug (AED) Treatment in Children With Refractory Seizures |
| NCT01127165 | PHASE4 | COMPLETED | Low and High Dose Zonisamide in Children as Monotherapy |
| NCT01127256 | PHASE4 | COMPLETED | Comparative Study of Zonisamide and Carbamazepine as an Initial Monotherapy: Efficacy and Safety Evaluation |
| NCT01140867 | PHASE4 | COMPLETED | Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): 15q11q13 microduplication syndrome, atrial septal defect, autism, chromosome 15q11.2 deletion syndrome, cystic hygroma, epilepsy, hypertensive disorder, hypoplastic left heart syndrome 1, obesity disorder, Prader-Willi syndrome, strabismus, thrombocytopenia