AutismKB 2.0

Annotation Details for ADAMTSL1


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Basic Information Top
Gene Symbol:ADAMTSL1 ( ADAMTSL-1,ADAMTSR1,C9orf94,DKFZp686L03130,FLJ35283,FLJ41032,FLJ46891,MGC118803,MGC118805,MGC40193,PUNCTIN )
Gene Full Name: ADAMTS-like 1
Band: 9p22.2-p22.1
Quick LinksEntrez ID:92949; OMIM: 609198; Uniprot ID:ATL1_HUMAN; ENSEMBL ID: ENSG00000178031; HGNC ID: 14632
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005578IEA-proteinaceous extracellular matrix-
GO:0005788TAS-endoplasmic reticulum lumen-
GO ID Evidence Qualifier GO_term References
GO:0004222IEA-metalloendopeptidase activity-
GO:0008270IEA-zinc ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006508IEA-proteolysis-
GO:0036066TAS-protein O-linked fucosylation-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1924989
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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