AutismKB 2.0

Annotation Details for SQLE


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Basic Information Top
Gene Symbol:SQLE ( FLJ30795 )
Gene Full Name: squalene epoxidase
Band: 8q24.13
Quick LinksEntrez ID:6713; OMIM: 602019; Uniprot ID:ERG1_HUMAN; ENSEMBL ID: ENSG00000104549; HGNC ID: 11279
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IBA-endoplasmic reticulum-
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0016021IEA-integral component of membrane-
GO:0031090IEA-organelle membrane-
GO ID Evidence Qualifier GO_term References
GO:0004506IBA-squalene monooxygenase activity-
GO:0004506NAS-squalene monooxygenase activity9286711
GO:0004506TAS-squalene monooxygenase activity-
GO:0050660IEA-flavin adenine dinucleotide binding-
GO ID Evidence Qualifier GO_term References
GO:0006695TAS-cholesterol biosynthetic process-
GO:0006725IEA-cellular aromatic compound metabolic process-
GO:0008203IBA-cholesterol metabolic process-
GO:0010033IEA-response to organic substance-
GO:0016126IBA-sterol biosynthetic process-
GO:0016126NAS-sterol biosynthetic process9286711
GO:0045540TAS-regulation of cholesterol biosynthetic process-
GO:0055114IEA-oxidation-reduction process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109296
  • Data Attributes: MGI curated and HomoloGene calculated
No 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