AutismKB 2.0

Annotation Details for MKS1


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Basic Information Top
Gene Symbol:MKS1 ( BBS13,FLJ20345,MES,MKS,POC12 )
Gene Full Name: Meckel syndrome, type 1
Band: 17q22
Quick LinksEntrez ID:54903; OMIM: 609883; Uniprot ID:MKS1_HUMAN; ENSEMBL ID: ENSG00000011143; HGNC ID: 7121
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm17185389
GO:0005813IDA-centrosome19208769
GO:0005814IEA-centriole-
GO:0005829TAS-cytosol-
GO:0016020IEA-membrane-
GO:0036038ISS-MKS complex-
GO:0036064IDA-ciliary basal body19208769
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding17185389
GO ID Evidence Qualifier GO_term References
GO:0001843IEA-neural tube closure-
GO:0007368IEA-determination of left/right symmetry-
GO:0010669IEA-epithelial structure maintenance-
GO:0042733IEA-embryonic digit morphogenesis-
GO:0044458IEA-motile cilium assembly-
GO:0048706IEA-embryonic skeletal system development-
GO:0048754IEA-branching morphogenesis of an epithelial tube-
GO:0060122IEA-inner ear receptor stereocilium organization-
GO:0060271IMP-cilium assembly19515853
GO:0060271ISS-cilium assembly-
GO:0060322IEA-head development-
GO:0060828IEA-regulation of canonical Wnt signaling pathway-
GO:0061009IEA-common bile duct development-
GO:0097711TAS-ciliary basal body docking-
GO:1901620IEA-regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning-
GO:1905515IEA-non-motile cilium assembly-
GO:1990403IEA-embryonic brain development-
GO:2000095IEA-regulation of Wnt signaling pathway, planar cell polarity pathway-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
DDX24MKS112135316169070 Two-hybrid
DDX24MKS112024916169070 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:3584243
  • Data Attributes: 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


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