AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
Location(AA) Modification
248Phosphoserine.
307Phosphoserine; by STK12 (Probable).
315Phosphoserine.
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052838
  • Location:chr16 30296957-30301671
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 30296761 30297063 302 46
Validated miRNA targets Top
Cis-Nats regulation Top

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