AutismKB 2.0

Annotation Detail for PPM1A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PPM1A ( FLJ42306,MGC9201,PP2C-ALPHA,PP2CA,PP2Calpha )
Gene Full Name: protein phosphatase, Mg2+/Mn2+ dependent, 1A
Band: 14q23.1
Quick LinksEntrez ID:5494; OMIM: 606108; Uniprot ID:PPM1A_HUMAN; ENSEMBL ID: ENSG00000100614; HGNC ID: 9275
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
375Phosphoserine.
377Phosphoserine (By similarity).
Location(AA) Modifications Resource
377Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
188N-linkedHMM predict
202Phosphotyrosine(Jak)HMM predict
216Phosphoserine(CDC2)HMM predict
216Phosphoserine(MAPK)HMM predict
370AsparagineHMM predict
375Phosphoserine(CK1)HMM predict
377Phosphoserine(CK2)HMM predict
377Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_177951
  • Location:chr14 59785817-59823179
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 59785431 59786479 1048 0
Nanog ESGSE20650 59814824 59815214 390 0
Sox2 hESGSE18292 59802979 59803302 323 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-377 hsa-mir-377 14 18716028
hsa-miR-377* hsa-mir-377 14 18716028
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
7984 mRNA PPM1A chr14 59782222 59829823 3014 EST chr14 59776596 59785236 Non-exonic Bidirectional (NOB) pairs

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