AutismKB 2.0

Variant 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
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 40 0 0 2 1 0 43
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000284 15 15q11-13 gain Wolpert, 2000
AutCNV0000273 15 15q11.2-13 gain Wassink, 2001
AutCNV0000272 15 15q11.2-13 loss Wassink, 2001
AutCNV0000258 15 15q11-13 gain Silva, 2002
AutCNV0000290 15 15q11-13 gain Keller, 2003
AutCNV0000287 15 15p11-q13 20330217 32990417 12660200 gain external link Sahoo, 2005
AutCNV0000285 15 15q11-13 22646195 28910301 6264106 gain external link Sahoo, 2005
AutCNV0000288 15 15p11-q13 20330217 28910301 8580084 gain external link Sahoo, 2005
AutCNV0000279 15 15q11.2-13 gain Wassink, 2007
AutCNV0000010 15 15q11-13.33 20266957 32969479 12702522 gain external link Sebat, 2007
AutCNV0000181 15 15q11.2-q13.3 20116186 32511508 12395322 gain external link Marshall, 2008
AutCNV0000149 15 15q11.2-13.3 20167086 32511555 12344469 gain external link Marshall, 2008
AutCNV0000148 15 15q11.2-13.3 20116186 32511508 12395322 gain external link Marshall, 2008
AutCNV0000016 15 15q11-13 gain Weiss, 2008
AutCNV0000226 15 15q11-13 22646319 28396011 5749692 gain external link Christian, 2008
AutCNV0000225 15 15q11-13 22877142 28396011 5518869 gain external link Christian, 2008
AutCNV0000224 15 15q11-13 22424462 28396011 5971549 gain external link Christian, 2008
AutCNV0000676 15 15q11-13 gain Bremer, 2009
AutCNV0000587 15 15q11.2 22563582 23502180 938598 loss external link Gregory, 2009
AutCNV0000585 15 15q11.1-11.2 20003726 23710116 3706390 gain external link Gregory, 2009
AutCNV0000578 15 15q11.1-11.2 20003726 23982942 3979216 loss external link Gregory, 2009
AutCNV0000576 15 15q11.1-11.2 20003726 23502180 3498454 gain external link Gregory, 2009
AutCNV0000399 15 15q11.2 22755185 23226254 471069 gain external link van der Zwaag, 2009
AutCNV0000834 15 15q11.2 22753733 23221689 467956 loss external link Pinto, 2010
AutCNV0002090 15 15q11.2 22751742 23255910 504168 gain external link Pinto, 2010
AutCNV0000842 15 15q11.2 22588898 23486658 897760 gain external link Pinto, 2010
AutCNV0000740 15 15q11.2 22751742 23285514 533772 loss external link Bremer, 2011
AutCNV0004314 15 15q11.2-q13.1 22265649 28460519 6194870 gain external link Sanders, 2011
AutCNV0000739 15 15q11.2 22751742 23249123 497381 gain external link Bremer, 2011
AutCNV0004313 15 15q11.2-q13.3 20266957 32969479 12702522 gain external link Sanders, 2011
AutCNV0004312 15 15q11.2-q13.3 20167086 32511555 12344469 gain external link Sanders, 2011
AutCNV0004311 15 15q11.1-q13.3 20116186 32511508 12395322 gain external link Sanders, 2011
AutCNV0003981 15 15q11.2 22649350 23346204 696854 loss external link Levy, 2011
AutCNV0003835 15 15q11.2 22759123 23088585 329462 loss external link Levy, 2011
AutCNV0003834 15 15q11.2 22591745 23070293 478548 gain external link Levy, 2011
AutCNV0004968 15 15q11.2 22756650 23191062 434412 loss external link Zhang Y, 2015
AutCNV0005114 14 14q12 29006754 29309811 303057 gain external link Kanduri C, 2016
AutCNV0005871 15 15q11.2 22770421 23288350 517929 gain external link Alvarez-Mora MI, 2016
AutCNV0005869 15 15q11.2 21886479 23217514 1331035 gain external link Alvarez-Mora MI, 2016
AutCNV0005115 15 15q11.2 22769771 23096921 327150 loss external link Kanduri C, 2016
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
No related data!
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
15 22969287 G C R866T Toma C, 2014
A96V Y Alvarez-Mora MI, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
van der Zwaag, 2009
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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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


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