AutismKB 2.0

Variant Details for SGSM3


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Basic Information Top
Gene Symbol:SGSM3 ( DKFZp761D051,MAP,RUSC3,RUTBC3 )
Gene Full Name: small G protein signaling modulator 3
Band: 22q13.1
Quick LinksEntrez ID:27352; OMIM: 610440; Uniprot ID:SGSM3_HUMAN; ENSEMBL ID: ENSG00000100359; HGNC ID: 25228
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 4 5 0 2 0 0 11
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000282 22 22q13 37570054 51244566 13674512 loss external link Prasad, 2000
AutCNV0000277 22 22q13 37570054 51244566 13674512 gain external link Wassink, 2001
AutCNV0004185 22 22q13.1 40720316 40895377 175061 gain external link Levy, 2011
AutCNV0003867 22 22q13.1 40495436 40771063 275627 loss external link Levy, 2011
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 40802589 C Y Sanger sequencing O'Roak BJ, 2012
22 40802589 C Y p.Arg370Cys Sanger sequencing O'Roak BJ, 2012
22 40804965 A R p.Asp644Gly Sanger sequencing O'Roak BJ, 2012
22 42475019 A p.Asp644Gly O'Roak BJ, 2012
22 42472643 C p.Arg370Cys 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 42472722 T Y c.1185+2T>C O'Roak BJ, 2012
22 42474756 G R c.1853+1G>A O'Roak BJ, 2012
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