AutismKB 2.0

Annotation Details for ALMS1


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Basic Information Top
Gene Symbol:ALMS1 ( ALSS,DKFZp686A118,DKFZp686D1828,KIAA0328 )
Gene Full Name: Alstrom syndrome 1
Band: 2p13.1
Quick LinksEntrez ID:7840; OMIM: 606844; Uniprot ID:ALMS1_HUMAN; ENSEMBL ID: ENSG00000116127; HGNC ID: 428
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000922IEA-spindle pole-
GO:0005813IDA-centrosome15855349
GO:0005814IDAcolocalizes_withcentriole20844083
GO:0005829TAS-cytosol-
GO:0005929IEA-cilium-
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0005515IPI-protein binding23414517
GO:0051393IBA-alpha-actinin binding-
GO ID Evidence Qualifier GO_term References
GO:0000086TAS-G2/M transition of mitotic cell cycle-
GO:0016197IMP-endosomal transport22693585
GO:0051492IMP-regulation of stress fiber assembly22693585
GO:0097711TAS-ciliary basal body docking-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1934606
  • 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