AutismKB 2.0

Variant Details for ASTN2


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Basic Information Top
Gene Symbol:ASTN2 ( KIAA0634,bA67K19.1 )
Gene Full Name: astrotactin 2
Band: 9q33.1
Quick LinksEntrez ID:23245; OMIM: 612856; Uniprot ID:ASTN2_HUMAN; ENSEMBL ID: ENSG00000148219; HGNC ID: 17021
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 25 0 0 0 5 0 30
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0001283 9 9q33.1 119431463 119530849 99386 loss external link Pinto, 2010
AutCNV0003647 9 9q33.1 119471881 119510166 38285 loss external link Gai, 2011
AutCNV0000725 9 9q33.1 119510795 119562252 51457 loss external link Bremer, 2011
AutCNV0004698 9 9q33.1 loss Lionel AC, 2014
AutCNV0004708 9 9q33.1 gain Lionel AC, 2014
AutCNV0004697 9 9q33.1 loss Lionel AC, 2014
AutCNV0004707 9 9q33.1 gain Lionel AC, 2014
AutCNV0004696 9 9q33.1 loss Lionel AC, 2014
AutCNV0004706 9 9q33.1 loss Lionel AC, 2014
AutCNV0004695 9 9q33.1 loss Lionel AC, 2014
AutCNV0004705 9 9q33.1 loss Lionel AC, 2014
AutCNV0004694 9 9q33.1 gain Lionel AC, 2014
AutCNV0004704 9 9q33.1 loss Lionel AC, 2014
AutCNV0004693 9 9q33.1 loss Lionel AC, 2014
AutCNV0004703 9 9q33.1 loss Lionel AC, 2014
AutCNV0004702 9 9q33.1 loss Lionel AC, 2014
AutCNV0004701 9 9q33.1 loss Lionel AC, 2014
AutCNV0004700 9 9q33.1 gain Lionel AC, 2014
AutCNV0004699 9 9q33.1 loss Lionel AC, 2014
AutCNV0004709 9 9q33.1 gain Lionel AC, 2014
AutCNV0005035 9 9q33.1 119527324 119548870 21546 loss external link Eriksson MA, 2015
AutCNV0005724 9 loss C Yuen RK, 2017
AutCNV0005723 9 loss C Yuen RK, 2017
AutCNV0005722 9 loss C Yuen RK, 2017
AutCNV0005721 9 loss C Yuen RK, 2017
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
chr9 119976883 870(T>A) S257T Y Lionel AC, 2014
chr9 119858397 1150(C>T) S350L Y Lionel AC, 2014
chr9 119770434 1476(G>T) V459L Y Lionel AC, 2014
chr9 119738454 1638(A>T) T513S Y Lionel AC, 2014
chr9 119204756 3522(C>A) L1141M Y Lionel AC, 2014
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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  (e.g. CHD8)

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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