AutismKB 2.0

Annotation Details for MYBPHL


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Basic Information Top
Gene Symbol:MYBPHL ( - )
Gene Full Name: myosin binding protein H-like
Band: 1p13.3
Quick LinksEntrez ID:343263; OMIM: NA; Uniprot ID:MBPHL_HUMAN; ENSEMBL ID: ENSG00000221986; HGNC ID: 30434
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005575ND-cellular_component-
GO:0005859IBA-muscle myosin complex-
GO:0030018IBA-Z disc-
GO:0031430IBA-M band-
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0005515IPI-protein binding25416956
GO:0008307IBA-structural constituent of muscle-
GO:0051015IBA-actin filament binding-
GO:0051371IBA-muscle alpha-actinin binding-
GO:0097493IBA-structural molecule activity conferring elasticity-
GO ID Evidence Qualifier GO_term References
GO:0006941IBA-striated muscle contraction-
GO:0007015IBA-actin filament organization-
GO:0008150ND-biological_process-
GO:0045214IBA-sarcomere organization-
GO:0071688IBA-striated muscle myosin thick filament assembly-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1916003
  • Data Attributes: HomoloGene calculated
No data
No data

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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