AutismKB 2.0

Annotation Details for ANKRD27


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Basic Information Top
Gene Symbol:ANKRD27 ( DKFZp434L0718,FLJ00040,VARP )
Gene Full Name: ankyrin repeat domain 27 (VPS9 domain)
Band: 19q13.11
Quick LinksEntrez ID:84079; OMIM: NA; Uniprot ID:ANR27_HUMAN; ENSEMBL ID: ENSG00000105186; HGNC ID: 25310
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005764IDA-lysosome24856514
GO:0005769IDA-early endosome16525121
GO:0005770IDA-late endosome24856514
GO:0005829TAS-cytosol-
GO:0005886IDA-plasma membrane24856514
GO:0016020IDA-membrane19946888
GO:0030133IBA-transport vesicle-
GO:0030659IEA-cytoplasmic vesicle membrane-
GO:0042470IEA-melanosome-
GO:0043005IEA-neuron projection-
GO:0097422IDA-tubular endosome24856514
GO ID Evidence Qualifier GO_term References
GO:0000149IBA-SNARE binding-
GO:0005085IDA-guanyl-nucleotide exchange factor activity16525121
GO:0005096IEA-GTPase activator activity-
GO:0005515IPI-protein binding16525121
GO:0017112TAS-Rab guanyl-nucleotide exchange factor activity-
GO:0017137IDA-Rab GTPase binding16525121
GO ID Evidence Qualifier GO_term References
GO:0015031IEA-protein transport-
GO:0035544IDA-negative regulation of SNARE complex assembly24856514
GO:0035646IEA-endosome to melanosome transport-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0045022IDA-early endosome to late endosome transport16525121
GO:0048812IEA-neuron projection morphogenesis-
GO:0050775IEA-positive regulation of dendrite morphogenesis-
GO:0061024TAS-membrane organization-
GO:1990126IMP-retrograde transport, endosome to plasma membrane24856514
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2444103
  • Data Attributes: MGI curated and HomoloGene calculated
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