AutismKB 2.0

Annotation Details for SEPT1


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Basic Information Top
Gene Symbol:SEPT1 ( DIFF6,LARP,MGC20394,PNUTL3,SEP1 )
Gene Full Name: septin 1
Band: 16p11.2
Quick LinksEntrez ID:1731; OMIM: 612897; Uniprot ID:SEPT1_HUMAN; ENSEMBL ID: ENSG00000180096; HGNC ID: 2879
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IEA-cytoplasm-
GO:0005815IEA-microtubule organizing center-
GO:0030496IDA-midbody19799413
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding16179162
GO:0005525IEA-GTP binding-
GO:0042802IPI-identical protein binding16189514
GO ID Evidence Qualifier GO_term References
GO:0007049IEA-cell cycle-
GO:0051301IEA-cell division-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SEPT1SEPT110807516189514 Two-hybrid
SEPT6SEPT110807516189514 Two-hybrid
SEPT6SEPT111677016189514 Two-hybrid
TOLLIPSEPT110807516189514 Two-hybrid
TOLLIPSEPT111997816189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1858916
  • 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


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