AutismKB 2.0

Annotation Detail for PTCD3


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Basic Information Top
Gene Symbol:PTCD3 ( DKFZp666K071,FLJ20758 )
Gene Full Name: Pentatricopeptide repeat domain 3
Band: 2p11.2
Quick LinksEntrez ID:55037; OMIM: NA; Uniprot ID:PTCD3_HUMAN; ENSEMBL ID: ENSG00000132300; HGNC ID: 24717
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
126N6-acetyllysine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017952
  • Location:chr2 86186848-86222790
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 86185391 86188302 2911 2
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 86186926 86188166 1240 0
Nanog ESGSE20650 86215285 86215724 439 0
Nanog hESGSE18292 86195170 86195611 441 0
Oct1 H2O2-HelaGSE14283 86210364 86210397 33 0
Oct1 H2O2-HelaGSE14283 86211472 86211502 30 0
Oct1 H2O2-HelaGSE14283 86221978 86222012 34 0
Oct1 HelaGSE14283 86210364 86210397 33 0
Oct1 HelaGSE14283 86221978 86222013 35 0
TAF HelaGSE8489 86186507 86188097 1590 0
TAF k562GSE8489 86185508 86189376 3868 0
p130 shRbQuiescentGSE19898 86186800 86187340 540 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