AutismKB 2.0

Annotation Detail 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
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C066340 tolcapone tolcapone binds to BMS1 proteinaffects binding 19783845
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D017109 Akathisia, Drug-Induced tolcapone 7.7111080934
MESH:D000544 Alzheimer Disease tolcapone 3.3620150427
MESH:D003866 Depressive Disorder tolcapone 4.687768276 11224284
MESH:D003865 Depressive Disorder, Major tolcapone 5.4310440460
MESH:D056486 Drug-Induced Liver Injury tolcapone 3.3419783845 16604736
MESH:D004409 Dyskinesia, Drug-Induced tolcapone 6.8111455177
MESH:D054908 Extensively Drug-Resistant Tuberculosis tolcapone 7.3619578428
MESH:D010300 Parkinson Disease tolcapone 3.741977408 11432539 18328768 7566641 8635184 11746615 20334432 19578428 9305320 19783845 9591521 20216409 16758261 11586115 8739811 17089403 9708959 10651109 11793426 9333106 9754991
MESH:D018088 Tuberculosis, Multidrug-Resistant tolcapone 7.3619578428
MESH:D014820 Vitiligo tolcapone 5.9810573327
Pathway ID Pathway Name
KEGG:03008 Ribosome biogenesis in eukaryotes
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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