AutismKB 2.0

Annotation Detail for PPEF1


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Basic Information Top
Gene Symbol:PPEF1 ( PP7,PPEF,PPP7C,PPP7CA )
Gene Full Name: protein phosphatase, EF-hand calcium binding domain 1
Band: Xp22.13
Quick LinksEntrez ID:5475; OMIM: 300109; Uniprot ID:PPE1_HUMAN; ENSEMBL ID: ENSG00000086717; HGNC ID: 9243
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
6Phosphoserine(CDC2)HMM predict
10O-linkedHMM predict
13Phosphoserine(PKA)HMM predict
69N-linkedHMM predict
82N-linkedHMM predict
155N-linkedHMM predict
162Phosphoserine(CDC2)HMM predict
323Phosphoserine(CK1)HMM predict
341N-linkedHMM predict
343Phosphoserine(CDC2)HMM predict
427Phosphotyrosine(Syk)HMM predict
428Phosphotyrosine(Syk)HMM predict
641TyrosineHMM predict
645MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006240
  • Location:chrX 18618965-18755952
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 18764508 18765225 717 8914
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 18630360 18631156 796 0
Nanog ESGSE20650 18721827 18722283 456 0
Nanog hESGSE18292 18686359 18686743 384 0
Nanog hESGSE18292 18702593 18702833 240 0
Oct1 H2O2-HelaGSE14283 18631237 18631276 39 0
Oct1 H2O2-HelaGSE14283 18666675 18666713 38 0
Oct1 H2O2-HelaGSE14283 18714440 18714467 27 0
Oct1 HelaGSE14283 18623170 18623219 49 0
Oct1 HelaGSE14283 18623957 18623989 32 0
Oct1 HelaGSE14283 18631237 18631275 38 0
Oct1 HelaGSE14283 18666091 18666153 62 0
Oct1 HelaGSE14283 18666675 18666710 35 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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