AutismKB 2.0

Annotation Details for BMS1


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Basic Information Top
Gene Symbol:BMS1 ( BMS1L,KIAA0187 )
Gene Full Name: BMS1 homolog, ribosome assembly protein (yeast)
Band: 10q11.21
Quick LinksEntrez ID:9790; OMIM: 611448; Uniprot ID:BMS1_HUMAN; ENSEMBL ID: ENSG00000165733; HGNC ID: 23505
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus-
GO:0005654TAS-nucleoplasm-
GO:0005730IDA-nucleolus-
GO:0005730ISS-nucleolus-
GO:0030686IBA-90S preribosome-
GO ID Evidence Qualifier GO_term References
GO:0003723IDA-RNA binding22658674
GO:0003924IBA-GTPase activity-
GO:0005524IEA-ATP binding-
GO:0005525IBA-GTP binding-
GO:0034511IBA-U3 snoRNA binding-
GO ID Evidence Qualifier GO_term References
GO:0000462IBA-maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)-
GO:0000479IBA-endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)-
GO:0006364TAS-rRNA processing-
GO:0042255ISS-ribosome assembly-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
USP42BMS112390419615732 Affinity Capture-MS
USP42BMS111513419615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2446132
  • 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