AutismKB 2.0

Annotation Detail for P4HA3


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Basic Information Top
Gene Symbol:P4HA3 ( - )
Gene Full Name: prolyl 4-hydroxylase, alpha polypeptide III
Band: 11q13.4
Quick LinksEntrez ID:283208; OMIM: 608987; Uniprot ID:P4HA3_HUMAN; ENSEMBL ID: ENSG00000149380; HGNC ID: 30135
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
242N-linked (GlcNAc...) (Potential).
482N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_182904
  • Location:chr11 73655350-73700346
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 73707968 73708482 514 7879
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 73672004 73672937 933 0
FOXA1 DLD1GSE12801 73676790 73677049 259 0
FOXA1 MCF7GSE15244 73672383 73672973 590 0
P300 T0-glioblastomaGSE21026 73676844 73677339 495 0
RARG MCF7GSE15244 73672744 73672973 229 0
TFAP2C MCF7GSE21234 73669168 73669684 516 0
hScc1 BcellGSE12603 73700049 73700534 485 0
p130 QuiescentGSE19898 73667384 73667774 390 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