AutismKB 2.0

Annotation Detail for GCHFR


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Basic Information Top
Gene Symbol:GCHFR ( GFRP,HsT16933,MGC138467,MGC138469,P35 )
Gene Full Name: GTP cyclohydrolase I feedback regulator
Band: 15q15.1
Quick LinksEntrez ID:2644; OMIM: 602437; Uniprot ID:GFRP_HUMAN; ENSEMBL ID: ENSG00000137880; HGNC ID: 4194
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005258
  • Location:chr15 38843576-38847202
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 Hs68minusFBSGSE20725 38842503 38843355 852 648
TFAP2C MCF7GSE21234 38842612 38843098 486 722
hScc1 BcellGSE12603 38843214 38843683 469 128
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 38843289 38844118 829 0
CTCF G2GSE9613 38845134 38845818 684 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