AutismKB 2.0

Annotation Details for SOHLH1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SOHLH1 ( C9orf157,NOHLH,TEB2,bA100C15.3,bHLHe80 )
Gene Full Name: spermatogenesis and oogenesis specific basic helix-loop-helix 1
Band: 9q34.3
Quick LinksEntrez ID:402381; OMIM: 610224; Uniprot ID:SOLH1_HUMAN; ENSEMBL ID: ENSG00000165643; HGNC ID: 27845
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IBA-nucleus-
GO:0005737IEA-cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0000977IEA-RNA polymerase II regulatory region sequence-specific DNA binding-
GO:0001046IBA-core promoter sequence-specific DNA binding-
GO:0001228IBA-transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding-
GO:0046983IEA-protein dimerization activity-
GO ID Evidence Qualifier GO_term References
GO:0001541IEA-ovarian follicle development-
GO:0006366IBA-transcription from RNA polymerase II promoter-
GO:0007283IEA-spermatogenesis-
GO:0030154IBA-cell differentiation-
GO:0045944IEA-positive regulation of transcription from RNA polymerase II promoter-
GO:0048477IEA-oogenesis-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2684956
  • 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