AutismKB 2.0

Variant Details for TBR1


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Basic Information Top
Gene Symbol:TBR1 ( MGC141978,TES-56 )
Gene Full Name: T-box, brain, 1
Band: 2q24.2
Quick LinksEntrez ID:10716; OMIM: 604616; Uniprot ID:TBR1_HUMAN; ENSEMBL ID: ENSG00000136535; HGNC ID: 11590
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 2 17 0 0 0 0 19
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000409 2 2q24.1-24.3 152815504 165266754 12451250 loss external link Gregory, 2009
AutCNV0005882 2 2q24.2 162271612 162285766 14154 loss external link Brandler WM, 2018
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
2 162273322 * 1D, -G Sanger sequencing O'Roak BJ, 2012
2 162275553 A C c.1120A>C p.Asn374His Sanger sequencing deleterious0.9879 Neale BM, 2012
2 162273322 * -C/* p.Ala136ProfsX80 Sanger sequencing O'Roak BJ, 2012
2 162273603 A R p.Lys228Glu Sanger sequencing deleterious0.9691 O'Roak BJ, 2012
2 162275481 * +C/* p.Ser351Unk Sanger sequencing O'Roak BJ, 2012
2 162275481 A AC PCR amplification and Sanger s Dong S, 2014
2 162274307 G T Sanger sequencing deleterious0.9874 De Rubeis S, 2014
2 162275553 A C Sanger sequencing deleterious0.9879 De Rubeis S, 2014
2 162276743 A G c.1165A>G p.Lys389Glu PCR and Sanger sequencing deleterious0.9691 O'Roak BJ, 2014
2 162274307 G T c.813G>T p.Trp271Cys PCR and Sanger sequencing deleterious0.9874 O'Roak BJ, 2014
0 p.Trp271 Geisheker MR, 2017
2 162273603 A G c.682A>G p.Lys228Glu Y deleterious0.9691 O'Roak BJ, 2014
2 162565357 A p.Lys228Glu O'Roak BJ, 2012
2 162567235 p.Ser351X O'Roak BJ, 2012
2 162565076 p.Ala136ProfsX80 O'Roak BJ, 2012
2 162274810 G T c.946G>T p.(Gly316Ter) Sanger sequencing McDermott JH, 2018
2 162274796 T C c.932T>C p.(Leu311Pro) Sanger sequencing McDermott JH, 2018
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
No related data!
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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