AutismKB 2.0

Annotation Details for SPEF1


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Basic Information Top
Gene Symbol:SPEF1 ( C20orf28,CLAMP,DKFZp434I114,SPEF1A )
Gene Full Name: sperm flagellar 1
Band: 20p13
Quick LinksEntrez ID:25876; OMIM: 610674; Uniprot ID:SPEF1_HUMAN; ENSEMBL ID: ENSG00000101222; HGNC ID: 15874
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005575ND-cellular_component-
GO:0005737IEA-cytoplasm-
GO:0005930ISS-axoneme-
GO:0031514IEA-motile cilium-
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0005515IPI-protein binding25416956
GO ID Evidence Qualifier GO_term References
GO:0008150ND-biological_process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SPEF1ZBED111462616189514 Two-hybrid
SPEF1ZBED111739116189514 Two-hybrid
PLEKHF2SPEF111739116189514 Two-hybrid
PLEKHF2SPEF112279116189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:3513546
  • Data Attributes: HomoloGene calculated
No data
No data

Simple Query:


  (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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