AutismKB 2.0

Evidence Details for CYFIP1


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Basic Information Top
Gene Symbol:CYFIP1 ( FLJ45151,P140SRA-1,SHYC,SRA1 )
Gene Full Name: cytoplasmic FMR1 interacting protein 1
Band: 15q11.2
Quick LinksEntrez ID:23191; OMIM: 606322; Uniprot ID:CYFP1_HUMAN; ENSEMBL ID: ENSG00000068793; HGNC ID: 13759
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYFIP1|23191|nucleotide
ATGGCCGAGTCCTTGGGCTCTGCCGAGCTGCTCAGGCAGCTCAAGTCTCTGGGCATGGAGAGGCTCTTGCATGCGGTTAACACGTTTCTGAGGCAGTCGTGCACC
TACCTACCCCTTTTAACCTTTGGTGGTAAGACATCATTTGTTTCTCTTGACGTTTATGGCACGGAGGCGAACTGCTCCGCTACAAGTTGTTCTTTCCCCAAAGCA
GCAGCAACGTGGCCGCGTAGACAGGCACCCGGACCCCTCGGGGAGCTGGTGCGGGGCCCTCCCGACCAGGGCGTAGCGGAGCAGTCCTTCTCTCATGGGCTTTTT
GAGTTTGGCATAACTAATGTACCATGTATATTTTCTCCCCCACAAATGTTTCCTTGGATAATCCAGCTTTACATGGTGAGAACCATGCTAGAGTCCCTCATTGCA
GACAAAAGTGGTTCCAAGAAAACCTTGAGAAGTAGCCTTGAGGGGCCCACCATATTGGACATAGAAAAATTTCATCGAGAGTCATTCTTCTACACTCACTTGATA
AATTTCAGTGAAACGCTGCAGCAGTGCTGTGACCTTTCGCAGCTGTGGTTCCGAGAGTTCTTCCTGGAGCTGACCATGGGCAGGAGGATCCAGTTCCCCATTGAG
ATGTCGATGCCCTGGATCCTGACGGACCACATCCTGGAGACCAAGGAGGCATCGATGATGGAGTACGTGCTCTACTCCCTGGACCTGTACAATGACAGCGCCCAC
TACGCGCTCACCAGGTTCAACAAGCAGTTCCTGTACGACGAAATTGAGGCCGAGGTGAATCTATGTTTTGACCAATTTGTTTACAAGCTAGCAGACCAGATATTT
GCCTATTATAAGGTTATGGCAGGAAGTTTGCTTCTTGATAAACGGTTACGATCAGAATGCAAGAATCAGGGAGCCACGATCCACCTCCCGCCGTCTAACCGCTAC
GAGACGCTGCTGAAGCAGAGGCATGTGCAGCTCCTCGGCAGATCAATAGACCTCAATCGTCTGATCACCCAGCGCGTCTCAGCAGCCATGTATAAGTCCCTAGAA
CTGGCGATTGGACGATTTGAAAGTGAAGATTTGACCTCCATAGTTGAGCTGGATGGCCTGTTGGAAATCAACCGCATGACCCACAAGCTGCTGAGCCGGTACCTG
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>CYFIP1|23191|protein
MAESLGSAELLRQLKSLGMERLLHAVNTFLRQSCTYLPLLTFGGKTSFVSLDVYGTEANCSATSCSFPKAAATWPRRQAPGPLGELVRGPPDQGVAEQSFSHGLF
EFGITNVPCIFSPPQMFPWIIQLYMVRTMLESLIADKSGSKKTLRSSLEGPTILDIEKFHRESFFYTHLINFSETLQQCCDLSQLWFREFFLELTMGRRIQFPIE
MSMPWILTDHILETKEASMMEYVLYSLDLYNDSAHYALTRFNKQFLYDEIEAEVNLCFDQFVYKLADQIFAYYKVMAGSLLLDKRLRSECKNQGATIHLPPSNRY
ETLLKQRHVQLLGRSIDLNRLITQRVSAAMYKSLELAIGRFESEDLTSIVELDGLLEINRMTHKLLSRYLTLDGFDAMFREANHNVSAPYGRITLHVFWELNYDF
LPNYCYNGSTNRFVRTVLPFSQEFQRDKQPNAQPQYLHGSKALNLAYSSIYGSYRNFVGPPHFQVICRLLGYQGIAVVMEELLKVVKSLLQGTILQYVKTLMEVM
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 3 (20) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (2) 1 (1) 19 (25)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Wolpert, 2000 - STS mappingautism 3 - 3 - 3 - 3
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Silva, 2002 - FISHautism - - - - 1 - 1
Keller, 2003 USA FISHASD - - - - 2 - 2
Sahoo, 2005 USA aCGHautism - - - - 9 - 9
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Wassink, 2007 USA FISHPDD - - - - 104 - 104
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
van der Zwaag, 2009 Holland SNP microarrayASD 2 - 2 - 3 267 270
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bremer, 2009 - aCGHASD - - - - 148 - 148
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Bremer, 2011 - aCGHASD - - - - 223 - 223
Zhang Y, 2015 China -autistic 1 - - - 2 - 2
Kanduri C, 2016 Finnish -autism 83 - - - 257 288 545
Alvarez-Mora MI, 2016 - MicroarrayASD - - - - 44 - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Nishimura, 2007_2 America lymphoblastoid cell lines 7
(-)
autism with dup(15q)autism 15
(-)
1.23 Up 0.0000000011
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_014608
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
Alvarez-Mora MI, 2016 - Illumina MiSeqASD - - - 44 Sanger sequencing
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018