AutismKB 2.0

Annotation Details for TBC1D30


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Basic Information Top
Gene Symbol:TBC1D30 ( KIAA0984 )
Gene Full Name: TBC1 domain family, member 30
Band: 12q14.3
Quick LinksEntrez ID:23329; OMIM: NA; Uniprot ID:B9A6M9_HUMAN; ENSEMBL ID: ENSG00000111490; HGNC ID: 29164
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IDA-cytosol-
GO:0005886IDA-plasma membrane-
GO:0005929IDA-cilium17646400
GO:0012505IBA-endomembrane system-
GO:0036064IDA-ciliary basal body17646400
GO ID Evidence Qualifier GO_term References
GO:0005096IDA-GTPase activator activity17646400
GO:0017137IPI-Rab GTPase binding17646400
GO ID Evidence Qualifier GO_term References
GO:0006886IBA-intracellular protein transport-
GO:0031338IBA-regulation of vesicle fusion-
GO:0043547IDA-positive regulation of GTPase activity17646400
GO:0090630IBA-activation of GTPase activity-
GO:1902018IMP-negative regulation of cilium assembly17646400
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1921944
  • Data Attributes: MGI curated and 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