AutismKB 2.0

Annotation Details for C14orf49


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Basic Information Top
Gene Symbol:C14orf49 ( FLJ25605,MGC75267,NET53 )
Gene Full Name: chromosome 14 open reading frame 49
Band: 14q32.13
Quick LinksEntrez ID:161176; OMIM: 610861; Uniprot ID:SYNE3_HUMAN; ENSEMBL ID: ENSG00000176438; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005635IDA-nuclear envelope21937718
GO:0005640IEA-nuclear outer membrane-
GO:0005791IEA-rough endoplasmic reticulum-
GO:0016020IDA-membrane19946888
GO:0016021IEA-integral component of membrane-
GO:0031965IDA-nuclear membrane-
GO:0034993IDA-LINC complex18396275
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding18396275
GO:0051015IMP-actin filament binding22518138
GO ID Evidence Qualifier GO_term References
GO:0007010IMP-cytoskeleton organization21937718
GO:0008360IMP-regulation of cell shape21937718
GO:0090150IDA-establishment of protein localization to membrane22518138
GO:0090286IDA-cytoskeletal anchoring at nuclear membrane18396275
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2442408
  • 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