AutismKB 2.0

Annotation Details for IGSF1


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Basic Information Top
Gene Symbol:IGSF1 ( IGCD1,IGDC1,INHBP,KIAA0364,MGC75490,PGSF2,p120 )
Gene Full Name: immunoglobulin superfamily, member 1
Band: Xq25
Quick LinksEntrez ID:3547; OMIM: 300137; Uniprot ID:IGSF1_HUMAN; ENSEMBL ID: ENSG00000147255; HGNC ID: 5948
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576IEA-extracellular region-
GO:0016020IDA-membrane11266516
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0004872IDA-receptor activity11266516
GO:0005515IPI-protein binding11266516
GO:0015026IEA-coreceptor activity-
GO:0034711IDA-inhibin binding11266516
GO ID Evidence Qualifier GO_term References
GO:0006355IDA-regulation of transcription, DNA-templated11266516
GO:0007165IDA-signal transduction11266516
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
IGSF1IGF110976311344214 Two-hybrid
IGSF1IGF110970011344214 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2147913
  • Data Attributes: MGI curated and 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