AutismKB 2.0

Variant Details for GON4L


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Basic Information Top
Gene Symbol:GON4L ( DKFZp761I241,FLJ12923,FLJ20203,FLJ23040,GON-4,GON4,KIAA1606,MGC138817,MGC138818,RP11-243J18.4 )
Gene Full Name: gon-4-like (C. elegans)
Band: 1q22
Quick LinksEntrez ID:54856; OMIM: 610393; Uniprot ID:GON4L_HUMAN; ENSEMBL ID: ENSG00000116580; HGNC ID: 25973
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 1 1 0 0 0 4
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000459 1 1q22-23.1 155804696 156539912 735216 gain external link Gregory, 2009
AutCNV0000458 1 1q21-22 155680449 156433946 753497 gain external link Gregory, 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
1 155736011 G A c.3253C>T p.Leu1085Leu Sanger sequencing Sanders SJ, 2012
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
1 155735530 A C Low-confidence mosaics Resequencing Lim ET, 2017
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