AutismKB 2.0

Annotation Detail for PDE1A


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Basic Information Top
Gene Symbol:PDE1A ( HCAM1,HSPDE1A,MGC26303 )
Gene Full Name: phosphodiesterase 1A, calmodulin-dependent
Band: 2q32.1
Quick LinksEntrez ID:5136; OMIM: 171890; Uniprot ID:PDE1A_HUMAN; ENSEMBL ID: ENSG00000115252; HGNC ID: 8774
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
13N-linkedHMM predict
77Phosphothreonine(CK2)HMM predict
82Phosphoserine(CK2)HMM predict
82Phosphoserine(CK1)HMM predict
88Phosphoserine(IKK)HMM predict
135Phosphotyrosine(EGFR)HMM predict
153Phosphothreonine(PKC)HMM predict
214Phosphotyrosine(Syk)HMM predict
261SulfotyrosineHMM predict
310N-linkedHMM predict
411Phosphothreonine(PKA)HMM predict
453O-linkedHMM predict
460O-linkedHMM predict
462O-linkedHMM predict
487Phosphoserine(CDK)HMM predict
490Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001003683
  • Location:chr2 182740905-183095709
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 182759131 182759397 266 0
CTCF CD4GSE12889 182813865 182814012 147 0
CTCF CD4SISSRdata 182759131 182759397 266 0
CTCF CD4SISSRdata 182813865 182814012 147 0
CTCF G2GSE9613 182758935 182759385 450 0
P300 T30-glioblastomaGSE21026 182945414 182946244 830 0
PAX3-FKHR Rh4GSE19063 182892120 182893809 1689 0
hScc1 CdLSGSE12603 182759006 182759636 630 0
hScc1 G2GSE9613 182758864 182759599 735 0
p63 keratinocytesGSE17611 182945509 182946381 872 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