AutismKB 2.0

Annotation Detail for PCBD1


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Basic Information Top
Gene Symbol:PCBD1 ( DCOH,PCBD,PCD,PHS )
Gene Full Name: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Band: 10q22.1
Quick LinksEntrez ID:5092; OMIM: 126090; Uniprot ID:PHS_HUMAN; ENSEMBL ID: ENSG00000166228; HGNC ID: 8646
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
41N6-acetyllysine.
Location(AA) Modifications Resource
2N-acetylalanine.Swiss-Prot 53.0
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000281
  • Location:chr10 72313272-72318546
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 72333105 72333380 275 14696
CTCF CD4SISSRdata 72333105 72333380 275 14696
Gata2 K562GSE18868 72320280 72321268 988 2228
Oct1 HelaGSE14283 72324405 72324436 31 5874
STAT1 IFNSISSRdata 72337695 72338393 698 19498
hScc1 BcellGSE12603 72324249 72324452 203 5804
hScc1 BcellGSE12603 72332906 72333456 550 14635
hScc1 BcellGSE12603 72337622 72338025 403 19277
hScc1 CdLSGSE12603 72332832 72333660 828 14700
hScc1 G2GSE9613 72332623 72333904 1281 14717
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RARG MCF7GSE15244 72316677 72317211 534 0
hScc1 BcellGSE12603 72317355 72318462 1107 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