CYFIP1
Homo sapiens
Gene Name: cytoplasmic FMR1 interacting protein 1
Aliases: P140SRA-1, SHYC, SRA1
Chromosome No: 15
Chromosome Band: 15q11.2
Genetic Category: Multigenic CNV-Rare Single Gene variant-Genetic association-Functional-Rare single gene variant/Functional
Aliases: P140SRA-1, SHYC, SRA1
Chromosome No: 15
Chromosome Band: 15q11.2
Genetic Category: Multigenic CNV-Rare Single Gene variant-Genetic association-Functional-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 23
Recent Reports: 7
Annotated variants: 15
Associated CNVs: 13
Evidence score: 3
ASD Reports: 23
Recent Reports: 7
Annotated variants: 15
Associated CNVs: 13
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
A rare CYFIP1 deletion was found in a patient with PDD-NOS and mild intellectual disability (Leblond et al., 2012).
Molecular 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. May act as an invasion suppressor in cancers.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
ASD
ID
Positive Association
A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus.
Inter-individual variation in surface area across
Positive Association
Common Regulatory Variants of CYFIP1 Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism.
ASD
Positive Association
Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.
ASD
Support
A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-...
Support
Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms
ASD, SCZ
Support
Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits
Support
Cytoplasmic FMRP interacting protein 1/2 (CYFIP1/2) expression analysis in autism.
Support
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
ASD
Support
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
ASD
Support
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
ASD
Recent Recommendation
The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines.
Recent Recommendation
CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation.
Recent Recommendation
Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition.
Recent Recommendation
Cyfip1 Regulates Presynaptic Activity during Development.
Recent Recommendation
Reduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks.
Recent Recommendation
Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR.
Recent Recommendation
Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN320R004
missense_variant
c.287C>T
p.Ala96Val
Familial
Paternal
Multi-generational
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN320C001
missense_variant, splice_site_variant
rs7170637
c.1165G>A;c.2458G>A;c.2542G>A;c.2452G>A
p.Gly389Ser;p.Gly820Ser;p.Gly848Ser;p.Gly818Ser
Discovery cohort: 446 German ASD families (442 trios/4 duos); replication cohorts: Strict/European subsample from AGP (1466 trios) and French case/control sample (541 cases/366 controls)
Discovery and replication (meta-analysis)
GEN320C002
intron_variant
rs8028440
c.-125-4321C>T;c.-6-5059C>T;c.-831C>T;c.-33-5032C>T
2147 trios with probands diagnosed with ASD and a subset of 1266 trios with probands diagnosed with classical autism from the Autism Genome Project (AGP)
Discovery
GEN320C003
intron_variant
rs2289823
c.208-177C>T;c.292-177C>T
2147 trios with probands diagnosed with ASD and a subset of 1266 trios with probands diagnosed with classical autism from the Autism Genome Project (AGP)
Discovery
GEN320C004
intron_variant
rs7403800
c.569+1113A>G;c.653+1113A>G
2147 trios with probands diagnosed with ASD and a subset of 1266 trios with probands diagnosed with classical autism from the Autism Genome Project (AGP)
Discovery
GEN320C005
intron_variant
rs4778298
c.1360-629G>T;c.1444-629G>T
Discovery cohort: 100 unrelated adults (81 Caucasian). Validation cohort: 2621 healthy adults of Dutch descent (2383 Caucasian)
Discovery
