AutismKB 2.0

Variant Details for SBF1


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Basic Information Top
Gene Symbol:SBF1 ( DKFZp761D0422,MGC99700,MTMR5 )
Gene Full Name: SET binding factor 1
Band: 22q13.33
Quick LinksEntrez ID:6305; OMIM: 603560; Uniprot ID:MTMR5_HUMAN; ENSEMBL ID: ENSG00000100241; HGNC ID: 10542
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 12 8 0 2 0 0 22
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000296 22 22q13.3 44268667 51244566 6975899 loss external link Goizet, 2000
AutCNV0000282 22 22q13 37570054 51244566 13674512 loss external link Prasad, 2000
AutCNV0000277 22 22q13 37570054 51244566 13674512 gain external link Wassink, 2001
AutCNV0000015 22 22q13.31-13.33 46823508 51175739 4352231 loss external link Sebat, 2007
AutCNV0000159 22 22q13.31-13.33 47956881 51218956 3262075 loss external link Marshall, 2008
AutCNV0000386 22 22q13.33 Zwaag, 2009
AutCNV0000385 22 22q13.33 Zwaag, 2009
AutCNV0004395 22 22q13.31-q13.33 46765363 51119017 4353654 loss external link Sanders, 2011
AutCNV0000710 22 22q13.2-qter loss Chen, 2011
AutCNV0004397 22 22q13.33 50896381 51173083 276702 loss external link Sanders, 2011
AutCNV0004396 22 22q13.31-q13.33 47898736 51162234 3263498 loss external link Sanders, 2011
AutCNV0004908 15 15q11.2 22669052 23769081 1100029 gain external link Castronovo C, 2015
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
22 50899030 T Y Sanger sequencing O'Roak BJ, 2012
22 50898487 C T c.3385G>A p.Asp1129Asn Sanger sequencing deleterious0.9831 Neale BM, 2012
22 50901032 G R p.Arg695Trp Sanger sequencing O'Roak BJ, 2012
22 50899030 T Y p.Thr1027Ala Sanger sequencing O'Roak BJ, 2012
22 50898487 C T Sanger sequencing deleterious0.9831 De Rubeis S, 2014
22 50899099 C T Sanger sequencingneutral0.0578 De Rubeis S, 2014
22 0 G p.Arg695Trp O'Roak BJ, 2012
22 0 T p.Thr1027Ala O'Roak BJ, 2012
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
22 G R p.Gln244X O'Roak BJ, 2012
D1619E Y Alvarez-Mora MI, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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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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