AutismKB 2.0

Annotation Details for BRSK1


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Basic Information Top
Gene Symbol:BRSK1 ( FLJ43009,KIAA1811 )
Gene Full Name: BR serine/threonine kinase 1
Band: 19q13.42
Quick LinksEntrez ID:84446; OMIM: 609235; Uniprot ID:BRSK1_HUMAN; ENSEMBL ID: ENSG00000160469; HGNC ID: 18994
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus15150265
GO:0005654IDA-nucleoplasm-
GO:0005737IDA-cytoplasm15150265
GO:0005813IBA-centrosome-
GO:0005813ISS-centrosome-
GO:0008021ISS-synaptic vesicle-
GO:0030054IDA-cell junction-
GO ID Evidence Qualifier GO_term References
GO:0000287IDA-magnesium ion binding14976552
GO:0004674IDA-protein serine/threonine kinase activity15150265
GO:0005524IC-ATP binding15150265
GO:0019901IEA-protein kinase binding-
GO:0043015ISS-gamma-tubulin binding-
GO:0050321IDA-tau-protein kinase activity21985311
GO:0050321ISS-tau-protein kinase activity-
GO ID Evidence Qualifier GO_term References
GO:0006468IDA-protein phosphorylation15150265
GO:0006974IDA-cellular response to DNA damage stimulus15150265
GO:0007269ISS-neurotransmitter secretion-
GO:0007409ISS-axonogenesis-
GO:0009411IDA-response to UV15150265
GO:0010212IDANOTresponse to ionizing radiation15150265
GO:0030010ISS-establishment of cell polarity-
GO:0030182ISS-neuron differentiation-
GO:0031572IDA-G2 DNA damage checkpoint15150265
GO:0035556IBA-intracellular signal transduction-
GO:0051298ISS-centrosome duplication-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
BRSK1UBC11316418254724 Reconstituted Complex
BRSK1UBC12408418254724 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2685946
  • 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