CYFIP1 Gene (Protein Coding)

Cytoplasmic FMR1 Interacting Protein 1

GC15M022867
GIFtS:
41
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 Fragile X mental retardation protein (FMRP) and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion in... See more...

Aliases for CYFIP1 Gene

Aliases for CYFIP1 Gene

  • Cytoplasmic FMR1 Interacting Protein 1 2 3 5
  • Cytoplasmic FMRP Interacting Protein 1 2 3
  • Cytoplasmic FMR1-Interacting Protein 1 3 4
  • Specifically Rac1-Associated Protein 1 3 4
  • Selective Hybridizing Clone 2 3
  • P140SRA-1 2 3
  • KIAA0068 2 4
  • SHYC 2 3
  • P140sra-1 4
  • CYFIP1 5
  • SRA-1 3
  • Sra-1 4
  • SRA1 3

External Ids for CYFIP1 Gene

Previous GeneCards Identifiers for CYFIP1 Gene

  • GC15P019172
  • GC15M015990
  • GC15P020311
  • GC15P020440
  • GC15P020444
  • GC15P023697
  • GC15P023717
  • GC15P001205
  • GC15P023748
  • GC15P023761
  • GC15P023780
  • GC15P023809
  • GC15P023843
  • GC15P023873
  • GC15P023905

Summaries for CYFIP1 Gene

Entrez Gene Summary for CYFIP1 Gene

  • 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 Fragile X mental retardation protein (FMRP) 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. [provided by RefSeq, May 2017]

GeneCards Summary for CYFIP1 Gene

CYFIP1 (Cytoplasmic FMR1 Interacting Protein 1) is a Protein Coding gene. Diseases associated with CYFIP1 include Fragile X Syndrome and Cataract 25. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include Rac GTPase binding. An important paralog of this gene is CYFIP2.

UniProtKB/Swiss-Prot Summary for CYFIP1 Gene

  • 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 (By similarity). 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 (By similarity). May act as an invasion suppressor in cancers.

Gene Wiki entry for CYFIP1 Gene

Additional gene information for CYFIP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYFIP1 Gene

Genomics for CYFIP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CYFIP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH15J022977 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.6 1563 5.4 ZNF600 IKZF1 JUND KLF9 NFIC ZIC2 ZBTB10 MXD4 MNT KLF7 CYFIP1 hsa-miR-5095-149 NIPA2 RF00017-1540
GH15J022917 Promoter 0.3 EPDnew 250.2 +63.8 63819 0.1 CYFIP1 RF00017-1542 piR-50216 NIPA2 RF00017-1540
GH15J022785 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 15.7 +194.3 194263 3.2 ZNF207 ZNF600 IKZF1 ZNF592 POLR2A CEBPA ZSCAN16 ZBTB10 MXD4 NONO NIPA1 hsa-miR-5095-148 CYFIP1 NIPA2 piR-56497-050 lnc-CYFIP1-5
GH15J022837 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 +141.8 141813 4.1 SP1 ZNF207 NCOR1 IKZF1 ZNF600 JUND ZNF580 CEBPA ZNF223 ZNF10 NIPA2 lnc-CYFIP1-5 lnc-NIPA1-3 ENSG00000259414 CYFIP1 ENSG00000259098
GH15J022949 Enhancer 0.9 ENCODE dbSUPER 22 +31.3 31333 2.4 NCOR1 IKZF1 ZNF600 ZIC2 ZNF341 MNT SIN3A SP2 TAL1 EBF1 CYFIP1 piR-50437-194 piR-59216 NIPA2 RF00017-1540
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYFIP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYFIP1

Top Transcription factor binding sites by QIAGEN in the CYFIP1 gene promoter:
  • AML1a
  • E47
  • FOXO3
  • FOXO3a
  • FOXO3b
  • NF-1
  • NF-1/L
  • STAT5A

Genomic Locations for CYFIP1 Gene

Latest Assembly
chr15:22,867,052-22,981,063
(GRCh38/hg38)
Size:
114,012 bases
Orientation:
Minus strand

Previous Assembly
chr15:22,892,170-23,006,016
(GRCh37/hg19 by Entrez Gene)
Size:
113,847 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr15(ALT_REF_LOCI_1):744-77,893 (-)
  • chr15(PATCHES):3,761,127-3,874,986 (-)

Genomic View for CYFIP1 Gene

Genes around CYFIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYFIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYFIP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CYFIP1 Gene

Proteins for CYFIP1 Gene

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  • Protein details for CYFIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L576-CYFP1_HUMAN
    Recommended name:
    Cytoplasmic FMR1-interacting protein 1
    Protein Accession:
    Q7L576
    Secondary Accessions:
    • A8K6D9
    • Q14467
    • Q5IED0
    • Q6ZSX1
    • Q9BSD9
    • Q9BVC7

    Protein attributes for CYFIP1 Gene

    Size:
    1253 amino acids
    Molecular mass:
    145182 Da
    Quaternary structure:
    • 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 (PubMed:16417406). 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 (By similarity).
    SequenceCaution:
    • Sequence=BAA07552.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • Breakpoint hotspot for the Prader-Willi/Angelman syndromes and may be implicated in autism. Commonly altered in tumors.

    Three dimensional structures from OCA and Proteopedia for CYFIP1 Gene

    Alternative splice isoforms for CYFIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYFIP1 Gene

Protein Expression for CYFIP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CYFIP1 Gene

  • Glycosylation at Asn672
  • Ubiquitination at Lys1053 and Lys1210
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CYFP1_HUMAN (1168)

Other Protein References for CYFIP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYFIP1 Gene

Domains & Families for CYFIP1 Gene

Gene Families for CYFIP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CYFIP1 Gene

InterPro:
Blocks:
  • Cytoplasmic fragile X mental retardation protein interacting protein signature

Suggested Antigen Peptide Sequences for CYFIP1 Gene

GenScript: Design optimal peptide antigens:
  • p140sra-1 (CYFP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L576

UniProtKB/Swiss-Prot:

CYFP1_HUMAN :
  • Belongs to the CYFIP family.
Family:
  • Belongs to the CYFIP family.
genes like me logo Genes that share domains with CYFIP1: view

Function for CYFIP1 Gene

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  6. Cell Lines for research

Molecular function for CYFIP1 Gene

UniProtKB/Swiss-Prot 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 (By similarity). 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 (By similarity). May act as an invasion suppressor in cancers.

Phenotypes From GWAS Catalog for CYFIP1 Gene

Gene Ontology (GO) - Molecular Function for CYFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000340 RNA 7-methylguanosine cap binding IBA 21873635
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 11438699
GO:0031267 small GTPase binding ISS --
GO:0045182 translation regulator activity IEA --
genes like me logo Genes that share ontologies with CYFIP1: view
genes like me logo Genes that share phenotypes with CYFIP1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYFIP1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYFIP1 Gene

Localization for CYFIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYFIP1 Gene

Cytoplasm. Cytoplasm, perinuclear region. Cell projection, lamellipodium. Cell projection, ruffle. Cell junction, synapse, synaptosome. Note=Highly expressed in the perinuclear region (By similarity). Enriched in synaptosomes (By similarity). Also enriched in membrane ruffles and at the tips of lamellipodia (By similarity). {ECO:0000250 UniProtKB:Q7TMB8}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYFIP1 gene
Compartment Confidence
extracellular 4
cytosol 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for CYFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005845 mRNA cap binding complex ISS --
genes like me logo Genes that share ontologies with CYFIP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYFIP1 Gene

Pathways & Interactions for CYFIP1 Gene

genes like me logo Genes that share pathways with CYFIP1: view

SIGNOR curated interactions for CYFIP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for CYFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IBA 21873635
GO:0006417 regulation of translation IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007411 axon guidance IBA 21873635
genes like me logo Genes that share ontologies with CYFIP1: view

Drugs & Compounds for CYFIP1 Gene

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(1) Drugs for CYFIP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with CYFIP1: view

Transcripts for CYFIP1 Gene

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mRNA/cDNA for CYFIP1 Gene

10 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYFIP1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for CYFIP1 Gene

No ASD Table

Relevant External Links for CYFIP1 Gene

GeneLoc Exon Structure for
CYFIP1

Expression for CYFIP1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYFIP1 Gene

mRNA expression in normal human tissues for CYFIP1 Gene
mRNA expression by BioGPS for CYFIP1 GenemRNA expression by GTEx for CYFIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CYFIP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYFIP1 Gene



Protein tissue co-expression partners for CYFIP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYFIP1

SOURCE GeneReport for Unigene cluster for CYFIP1 Gene:

Hs.26704

Evidence on tissue expression from TISSUES for CYFIP1 Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Skin(3.3)
  • Intestine(2.8)
  • Blood(2.5)
  • Kidney(2.5)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with CYFIP1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYFIP1 Gene

Orthologs for CYFIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYFIP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CYFIP1 29
  • 99.41 (n)
Cow
(Bos Taurus)
 Mammalia CYFIP1 29
  • 90.96 (n)
Mouse
(Mus musculus)
 Mammalia Cyfip1 29 16
  • 90.21 (n)
Rat
(Rattus norvegicus)
 Mammalia Cyfip1 29
  • 89.78 (n)
Chicken
(Gallus gallus)
 Aves CYFIP1 29
  • 82.07 (n)
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cyfip1 29
  • 79.2 (n)
Str.15568 29
Zebrafish
(Danio rerio)
 Actinopterygii cyfip1 29
  • 79.49 (n)
Dr.1164 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5585 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Sra-1 31
  • 65 (a)
Worm
(Caenorhabditis elegans)
 Secernentea gex-2 29
  • 55.89 (n)
Species where no ortholog for CYFIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CYFIP1 Gene

ENSEMBL:
Gene Tree for CYFIP1 (if available)
TreeFam:
Gene Tree for CYFIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYFIP1: view image
Alliance of Genome Resources:
Additional Orthologs for CYFIP1

Paralogs for CYFIP1 Gene

Paralogs for CYFIP1 Gene

(2) SIMAP similar genes for CYFIP1 Gene using alignment to 7 proteins:

  • CYFP1_HUMAN
  • H0YL39_HUMAN
  • H0YL50_HUMAN
  • H0YLJ5_HUMAN
  • H0YN93_HUMAN
  • H0YNK3_HUMAN
  • H0YNP0_HUMAN
genes like me logo Genes that share paralogs with CYFIP1: view

Variants for CYFIP1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYFIP1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs114789881 Benign: not provided 22,947,199(-) G/A
NM_014608.6(CYFIP1):c.87C>T (p.Ile29=) 		SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
rs115512378 Benign: not provided 22,870,187(-) C/T
NM_014608.6(CYFIP1):c.3603G>A (p.Leu1201=) 		SYNONYMOUS
rs1221020251 Likely Benign: not provided 22,947,205(-) G/T
NM_014608.6(CYFIP1):c.81C>A (p.Pro27=) 		SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
rs138234345 Benign: not provided 22,914,734(-) C/G
NM_014608.6(CYFIP1):c.1977G>C (p.Ser659=) 		SYNONYMOUS
rs138589588 Benign: not provided 22,927,897(-) G/C
NM_014608.6(CYFIP1):c.1233+9C>G 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYFIP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CYFIP1 Gene

Variant ID Type Subtype PubMed ID
dgv2403n100 CNV gain 25217958
dgv2404n100 CNV gain 25217958
dgv2405n100 CNV gain+loss 25217958
dgv2406n100 CNV gain 25217958
dgv2407n100 CNV gain+loss 25217958
dgv2408n100 CNV loss 25217958
dgv2409n100 CNV loss 25217958
dgv287n27 CNV gain 19166990
dgv4317n54 CNV loss 21841781
dgv4318n54 CNV gain 21841781
dgv4319n54 CNV gain+loss 21841781
dgv4320n54 CNV gain 21841781
dgv4322n54 CNV loss 21841781
dgv708e212 CNV loss 25503493
dgv709e212 CNV gain 25503493
dgv8n31 CNV loss 19718026
dgv9n31 CNV loss 19718026
esv2474417 CNV loss 19546169
esv34463 CNV gain 17911159
esv3569265 CNV gain 25503493
esv3635806 CNV loss 21293372
esv3635807 CNV gain 21293372
esv3635820 CNV loss 21293372
esv3635821 CNV loss 21293372
esv3635822 CNV gain 21293372
esv3892604 CNV gain+loss 25118596
esv3892622 CNV gain 25118596
esv3892626 CNV gain+loss 25118596
nsv1040546 CNV gain 25217958
nsv1131175 CNV deletion 24896259
nsv1141625 CNV deletion 24896259
nsv433290 CNV loss 18776910
nsv433429 CNV gain 18776910
nsv437797 CNV loss 16327808
nsv442359 CNV gain+loss 18776908
nsv456612 CNV loss 19166990
nsv456636 CNV loss 19166990
nsv469615 CNV loss 16826518
nsv469667 CNV loss 16826518
nsv471225 CNV gain 18288195
nsv471226 CNV loss 18288195
nsv471376 CNV loss 19718026
nsv511042 OTHER inversion 20534489
nsv568226 CNV gain 21841781
nsv568235 CNV loss 21841781
nsv568262 CNV loss 21841781
nsv568263 CNV loss 21841781
nsv568264 CNV loss 21841781
nsv832926 CNV gain+loss 17160897
nsv9184 CNV loss 18304495
nsv94774 CNV insertion 16902084

Variation tolerance for CYFIP1 Gene

Residual Variation Intolerance Score: 0.777% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.00; 90.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYFIP1 Gene

Human Gene Mutation Database (HGMD)
CYFIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYFIP1
Leiden Open Variation Database (LOVD)
CYFIP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYFIP1 Gene

Disorders for CYFIP1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for CYFIP1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
fragile x syndrome
  • fxs
cataract 25
  • ctrct25
dyscalculia
  • disorder of arithmetical skills
prader-willi syndrome
  • pws
autism
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYFIP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CYFIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYFIP1 Gene

Publications for CYFIP1 Gene

  1. A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. (PMID: 11438699) Schenck A … Mandel JL (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 22
  2. Confirmed rare copy number variants implicate novel genes in schizophrenia. (PMID: 20298200) Tam GW … Grant SG (Biochemical Society transactions 2010) 3 22
  3. Structure and control of the actin regulatory WAVE complex. (PMID: 21107423) Chen Z … Rosen MK (Nature 2010) 3 4
  4. Cyfip1 is a putative invasion suppressor in epithelial cancers. (PMID: 19524508) Silva JM … Hannon GJ (Cell 2009) 3 4
  5. The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. (PMID: 18805096) Napoli I … Bagni C (Cell 2008) 3 22

ExternalLinks

View latest publications for CYFIP1 gene in Mastermind

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