AutismKB 2.0

Variant Details for RBFOX1


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Basic Information Top
Gene Symbol:RBFOX1 ( A2BP1,FOX-1,FOX1,HRNBP1 )
Gene Full Name: RNA binding protein, fox-1 homolog (C. elegans) 1
Band: 16p13.3
Quick LinksEntrez ID:54715; OMIM: 605104; Uniprot ID:RFOX1_HUMAN; ENSEMBL ID: ENSG00000078328; HGNC ID: 18222
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 20 1 0 2 2 5 30
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000011 16 16p13.3 6052835 6260815 207980 loss external link Sebat, 2007
AutCNV0000113 16 16p13.2 7728759 8495409 766650 gain external link Szatmari, 2007
AutCNV0002896 16 16p13.2 7040830 7126732 85902 loss external link Pinto, 2010
AutCNV0002895 16 16p13.2 6870628 6929560 58932 loss external link Pinto, 2010
AutCNV0002894 16 16p13.2 6864528 6927242 62714 loss external link Pinto, 2010
AutCNV0002893 16 16p13.2 6657305 6689092 31787 gain external link Pinto, 2010
AutCNV0002892 16 16p13.2 6657305 6689092 31787 gain external link Pinto, 2010
AutCNV0002106 16 16p13.2 6657305 6689092 31787 gain external link Pinto, 2010
AutCNV0002105 16 16p13.2 6657305 6689092 31787 gain external link Pinto, 2010
AutCNV0002104 16 16p13.2 6654691 6689092 34401 gain external link Pinto, 2010
AutCNV0002103 16 16p13.2 6626430 6669592 43162 loss external link Pinto, 2010
AutCNV0004328 16 16p13.3 6044487 6230058 185571 loss external link Sanders, 2011
AutCNV0003723 16 16p13.2 7455781 7500531 44750 loss external link Gai, 2011
AutCNV0003722 16 16p13.2 7109009 7211975 102966 loss external link Gai, 2011
AutCNV0003721 16 16p13.2 6436716 6464810 28094 loss external link Gai, 2011
AutCNV0003388 16 16p13.2 6988411 7152865 164454 loss external link Gai, 2011
AutCNV0003387 16 16p13.2 6988411 7151333 162922 loss external link Gai, 2011
AutCNV0003386 16 16p13.2 6807461 6844095 36634 loss external link Gai, 2011
AutCNV0003385 16 16p13.3 6132598 6257542 124944 gain external link Gai, 2011
AutCNV0005117 15 15q13.2q13.3 30936285 32514341 1578056 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
16 6908075 molecular inversion probe rese Turner TN, 2016
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
16 6759600 C G Doan RN, 2016
16 8030152 - T Doan RN, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
Martin, 2007
Martin, 2007
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
AutLD0000026 16p13.2 16 D16S407 1.28 - - Bailey, 1998
AutLD0000037 16p13.2 16 D16S407 1.59 - - Monaco, 2001
AutLD0000091 16p13 16 D16S2619 - 2.17 - Buxbaum, 2004
AutLD0000005 16p13.2 16 ATA41E04 1.64 - - McCauley, 2005
AutLD0000138 16p13.3 16 D16S748 - - 0.00117 Lauritsen, 2006




Simple Query:


  (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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