AutismKB 2.0

Annotation Details for SP140


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Basic Information Top
Gene Symbol:SP140 ( LYSP100,LYSP100-A,LYSP100-B,MGC126440 )
Gene Full Name: SP140 nuclear body protein
Band: 2q37.1
Quick LinksEntrez ID:11262; OMIM: 608602; Uniprot ID:LY10_HUMAN; ENSEMBL ID: ENSG00000079263; HGNC ID: 17133
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001650IDA-fibrillar center-
GO:0005634TAS-nucleus8910577
GO:0005635TAS-nuclear envelope8695863
GO:0005654TAS-nucleoplasm8695863
GO:0005739IDA-mitochondrion-
GO:0016605IEA-PML body-
GO ID Evidence Qualifier GO_term References
GO:0003677IEA-DNA binding-
GO:0003700TAS-transcription factor activity, sequence-specific DNA binding8695863
GO:0005515IPI-protein binding24267382
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006355IEA-regulation of transcription, DNA-templated-
GO:0006952TAS-defense response8910577
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
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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