AutismKB 2.0

Variant Details for FASN


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Basic Information Top
Gene Symbol:FASN ( FAS,MGC14367,MGC15706,OA-519,SDR27X1 )
Gene Full Name: fatty acid synthase
Band: 17q25.3
Quick LinksEntrez ID:2194; OMIM: 600212; Uniprot ID:FAS_HUMAN; ENSEMBL ID: ENSG00000169710; HGNC ID: 3594
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 5 2 0 0 0 1 8
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000641 17 17q25.3 80032268 81048189 1015921 loss external link Gregory, 2009
AutCNV0000643 17 17q25.3 80032268 81048189 1015921 loss external link Gregory, 2009
AutCNV0000642 17 17q25.3 80032268 81048189 1015921 loss external link Gregory, 2009
AutCNV0000808 17 17q25.3 79338469 80188978 850509 gain external link Pinto, 2010
AutCNV0004363 17 17q25.3 79338469 80188978 850509 gain external link Sanders, 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
17 80046097 T C Sanger sequencing deleterious0.5036 De Rubeis S, 2014
17 80046737 C G Sanger sequencing deleterious0.9735 Yuen RK, 2016
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
AutLD0000044 17q25.3 17 D17S784 1.67 - - Auranen, 2002




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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