AutismKB 2.0

Annotation Details for SP7


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Basic Information Top
Gene Symbol:SP7 ( MGC126598,OSX,osterix )
Gene Full Name: Sp7 transcription factor
Band: 12q13.13
Quick LinksEntrez ID:121340; OMIM: 606633; Uniprot ID:SP7_HUMAN; ENSEMBL ID: ENSG00000170374; HGNC ID: 17321
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus18471237
GO:0005737IDA-cytoplasm18471237
GO ID Evidence Qualifier GO_term References
GO:0000981IBA-RNA polymerase II transcription factor activity, sequence-specific DNA binding-
GO:0003677ISS-DNA binding11792318
GO:0017151ISS-DEAD/H-box RNA helicase binding17303075
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0001649IDA-osteoblast differentiation18932205
GO:0001649ISS-osteoblast differentiation11792318
GO:0006351IEA-transcription, DNA-templated-
GO:0006357ISS-regulation of transcription from RNA polymerase II promoter11792318
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter18932205
GO:0060218IDA-hematopoietic stem cell differentiation18932205
GO:2000738IDA-positive regulation of stem cell differentiation18932205
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2153568
  • 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