AutismKB 2.0

Annotation Details for EPB41L4A


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Basic Information Top
Gene Symbol:EPB41L4A ( DKFZp566L203,EPB41L4,FLJ38738,NBL4 )
Gene Full Name: erythrocyte membrane protein band 4.1 like 4A
Band: 5q22.1-q22.2
Quick LinksEntrez ID:64097; OMIM: 612141; Uniprot ID:E41LA_HUMAN; ENSEMBL ID: ENSG00000129595; HGNC ID: 13278
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:0005856IBA-cytoskeleton-
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0005200IBA-structural constituent of cytoskeleton-
GO:0008092IEA-cytoskeletal protein binding-
GO ID Evidence Qualifier GO_term References
GO:0008150ND-biological_process-
GO:0031032IBA-actomyosin structure organization-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:103007
  • 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