AutismKB 2.0

Annotation Detail for SEPT5


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Basic Information Top
Gene Symbol:SEPT5 ( CDCREL,CDCREL-1,CDCREL1,H5,PNUTL1 )
Gene Full Name: septin 5
Band: 22q11.21
Quick LinksEntrez ID:5413; OMIM: 602724; Uniprot ID:SEPT5_HUMAN; ENSEMBL ID: ENSG00000184702; HGNC ID: 9164
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
225Phosphoserine.
327Phosphoserine.
336Phosphothreonine (By similarity).
Location(AA) Modifications Resource
327Phosphoserine (By similarity).Swiss-Prot 53.0
336Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
13Phosphothreonine(MAPK)HMM predict
83Phosphoserine(CK1)HMM predict
83Phosphoserine(ATM)HMM predict
83Phosphoserine(PKG)HMM predict
117N-linkedHMM predict
118N-linkedHMM predict
128SulfotyrosineHMM predict
225Phosphoserine(CK1)HMM predict
225PhosphoserineHMM predict
336O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002688
  • Location:chr22 18081986-18092296
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 18073066 18073288 222 8810
Oct4 hESGSE21916 18072702 18073588 886 8842
TFAP2C MCF7GSE21234 18076334 18077057 723 5291
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 18085553 18085770 217 0
CTCF CD4SISSRdata 18085553 18085770 217 0
Gata1 K562GSE18868 18084718 18093356 8638 0
Gata2 K562GSE18868 18085753 18093304 7551 0
hScc1 BcellGSE12603 18085138 18086826 1688 0
hScc1 BcellGSE12603 18089503 18090225 722 0
p130 shRbQuiescentGSE19898 18082510 18082835 325 0
p130 shRbSenescentGSE19898 18086013 18086159 146 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


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