AutismKB 2.0

Variant Details for GSG1L


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Basic Information Top
Gene Symbol:GSG1L ( MGC18079,PRO19651 )
Gene Full Name: GSG1-like
Band: 16p12.1
Quick LinksEntrez ID:146395; OMIM: NA; Uniprot ID:GSG1L_HUMAN; ENSEMBL ID: ENSG00000169181; HGNC ID: 28283
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 7 0 0 0 0 0 7
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000260 16 16p11.2 27692499 34542499 6850000 gain external link Finelli, 2004
AutCNV0000186 16 16p11.2 27692499 34542499 6850000 gain external link Marshall, 2008
AutCNV0000152 16 16p11.2 27692499 34542499 6850000 gain external link Marshall, 2008
AutCNV0000018 16 16p11.2 27692499 34542499 6850000 loss external link Weiss, 2008
AutCNV0000017 16 16p11.2 27692499 34542499 6850000 gain external link Weiss, 2008
AutCNV0000370 16 16p11.2 27692499 34542499 6850000 external link Zwaag, 2009
AutCNV0000369 16 16p11.2 27692499 34542499 6850000 external link Zwaag, 2009
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
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