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.
Location(AA) Modifications Resource
Location(AA) Modification Resource
51Phosphotyrosine(Syk)HMM predict
199SulfotyrosineHMM predict
199Phosphotyrosine(SRC)HMM predict
206Phosphoserine(CK1)HMM predict
206PhosphoserineHMM predict
222Phosphoserine(PKG)HMM predict
243MethylarginineHMM predict
248Phosphoserine(CAMK2)HMM predict
307O-linkedHMM predict
357Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052838
  • Location:chr16 30296957-30301671
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 30296761 30297063 302 46
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 30299189 30303270 4081 0
CTCF G2GSE9613 30297174 30297837 663 0
Fos K562GSE19551 30300132 30300772 640 0
GABP k562GSE8489 30299616 30300004 388 0
PHF8 HeLaGSE20725 30295985 30298286 2301 0
Rb GrowingGSE19898 30297438 30297665 227 0
Rb QuiescentGSE19898 30297231 30297917 686 0
Rb SenescentGSE19898 30297196 30298052 856 0
Rb shRbSenescenceGSE19898 30297255 30297677 422 0
TFAP2C MCF7GSE21234 30297225 30298208 983 0
p130 SenescentGSE19898 30296455 30297801 1346 0
p130 shRbQuiescentGSE19898 30297261 30297852 591 0
p130 shRbSenescentGSE19898 30297298 30297818 520 0
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