AutismKB 2.0

Annotation Detail for GCH1


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Basic Information Top
Gene Symbol:GCH1 ( DYT14,DYT5,DYT5a,GCH,GTP-CH-1,GTPCH1,HPABH4B )
Gene Full Name: GTP cyclohydrolase 1
Band: 14q22.2
Quick LinksEntrez ID:2643; OMIM: 600225; Uniprot ID:GCH1_HUMAN; ENSEMBL ID: ENSG00000131979; HGNC ID: 4193
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
60Phosphoserine.
81Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
33O-linkedHMM predict
60Phosphoserine(IKK)HMM predict
60PhosphoserineHMM predict
80Phosphoserine(CK1)HMM predict
94Phosphothreonine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001024071
  • Location:chr14 54378475-54439291
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54439017 54439766 749 100
ER E2-MCF7GSE14664 54454406 54454512 106 15168
Oct1 H2O2-HelaGSE14283 54444680 54444708 28 5403
Oct1 H2O2-HelaGSE14283 54456648 54456680 32 17373
Oct1 HelaGSE14283 54456643 54456732 89 17396
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 54376169 54376772 603 2005
Rb GrowingGSE19898 54376223 54376372 149 2178
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 54429662 54429921 259 0
CTCF CD4SISSRdata 54429662 54429921 259 0
CTCF HelaGSE12889 54429748 54429922 174 0
CTCF G2GSE9613 54438419 54438693 274 0
H3ac HepG2E 54437235 54438243 1008 0
Myc hESGSE17917 54395595 54395867 272 0
Nanog ESGSE20650 54390621 54391028 407 0
Nanog ESGSE20650 54414138 54414571 433 0
Nanog hESGSE18292 54399362 54399588 226 0
Pol2 GM12878GSE19551 54438321 54439603 1282 0
TFAP2C MCF7GSE21234 54438614 54439001 387 0
hScc1 BcellGSE12603 54438310 54439282 972 0
hScc1 CdLSGSE12603 54417692 54417918 226 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
162 Unknown MicroArray miR-1 GCH1 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000131979 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "lymphoblast, lymphocyte, leukocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
7931 HTC GCH1 chr14 54438773 54440268 491 mRNA GCH1 chr14 54378484 54439279Sense/Antisense (SA) pairs

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