AutismKB 2.0

Annotation Detail for PPP2R1A


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Basic Information Top
Gene Symbol:PPP2R1A ( MGC786,PP2A-Aalpha,PP2AAALPHA,PR65A )
Gene Full Name: protein phosphatase 2, regulatory subunit A, alpha
Band: 19q13.41
Quick LinksEntrez ID:5518; OMIM: 605983; Uniprot ID:2AAA_HUMAN; ENSEMBL ID: ENSG00000105568; HGNC ID: 9302
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
280N6-acetyllysine.
Location(AA) Modifications Resource
2N-acetylalanine.Swiss-Prot 53.0
Location(AA) Modification Resource
49Phosphoserine(IKK)HMM predict
60Phosphotyrosine(Syk)HMM predict
98Phosphothreonine(PKC)HMM predict
122Phosphoserine(CK1)HMM predict
145Phosphothreonine(PKA)HMM predict
146O-linkedHMM predict
553N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014225
  • Location:chr19 57385045-57421481
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 57367206 57367283 77 17801
ETS1 JurkatGSE17954 57384288 57385793 1505 5
GABP k562GSE8489 57365252 57365845 593 19497
H3ac HepG2E 57364879 57367107 2228 19053
Oct1 HelaGSE14283 57378961 57378998 37 6066
PHF8 Hs68plusFBSGSE20725 57384172 57385875 1703 22
Rb SenescentGSE19898 57366232 57366779 547 18540
p130 QuiescentGSE19898 57366484 57366701 217 18453
p130 SenescentGSE19898 57366522 57366952 430 18309
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 57432827 57433155 328 11510
CTCF CD4SISSRdata 57432827 57433155 328 11510
Pol2 GM12878GSE19551 57423097 57423608 511 1871
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 57386843 57387126 283 0
PHF8 293TGSE20725 57384960 57385842 882 0
Rb shRbSenescenceGSE19898 57395012 57395371 359 0
TAF k562GSE8489 57385698 57385895 197 0
TAF k562GSE8489 57386843 57387201 358 0
p130 QuiescentGSE19898 57385006 57385350 344 0
p130 shRbSenescentGSE19898 57384925 57385470 545 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