AutismKB 2.0

Annotation Details for EXTL1


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Basic Information Top
Gene Symbol:EXTL1 ( EXTL,MGC70794 )
Gene Full Name: exostoses (multiple)-like 1
Band: 1p36.11
Quick LinksEntrez ID:2134; OMIM: 601738; Uniprot ID:EXTL1_HUMAN; ENSEMBL ID: ENSG00000158008; HGNC ID: 3515
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0050508IEA-glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity-
GO ID Evidence Qualifier GO_term References
GO:0001501TAS-skeletal system development9037597
GO:0006486IEA-protein glycosylation-
GO:0036498TAS-IRE1-mediated unfolded protein response-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1888742
  • Data Attributes: HomoloGene calculated
No data
No 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