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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body1 / 7076114
blastocyst0 / 623190 
fetus12 / 56401221
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult62 / 193912131
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor9 / 9635993
lung tumor4 / 10312738
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal79 / 336030723
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood6 / 12347848
bone2 / 7165527
bone marrow0 / 488010 
brain2 / 11009891
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine5 / 23447221
kidney6 / 21177728
larynx0 / 241450 
liver17 / 20774381
lung11 / 33697432
lymph1 / 4427022
lymph node11 / 91610120
mammary gland9 / 15327158
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas20 / 21481293
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta5 / 28082517
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach6 / 9661962
testis3 / 3304429
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204224_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts205.1
Adipocyte6.2
AdrenalCortex11.85
Adrenalgland16.4
Amygdala6.3
Appendix7
AtrioventricularNode5.55
BDCA4+_DentriticCells177.6
Bonemarrow9.2
BronchialEpithelialCells25.75
CD105+_Endothelial11.45
CD14+_Monocytes868.45
CD19+_BCells(neg._sel.)285.4
CD33+_Myeloid651.75
CD34+107.5
CD4+_Tcells287.55
CD56+_NKCells1072.7
CD71+_EarlyErythroid82.55
CD8+_Tcells337.05
CardiacMyocytes8.4
Caudatenucleus5.55
Cerebellum5.1
CerebellumPeduncles7.4
CiliaryGanglion5.2
CingulateCortex6.45
Colorectaladenocarcinoma6.45
DorsalRootGanglion5.1
FetalThyroid6.2
Fetalbrain6
Fetalliver93.7
Fetallung133.05
GlobusPallidus4.8
Heart8.45
Hypothalamus6.8
Kidney14.5
Leukemia_chronicMyelogenousK-5625.95
Leukemia_promyelocytic-HL-6072.55
Leukemialymphoblastic(MOLT-4)67.3
Liver14.55
Lung7.25
Lymphnode28.9
Lymphoma_burkitts(Daudi)28.25
Lymphoma_burkitts(Raji)29.45
MedullaOblongata5.55
OccipitalLobe5.5
OlfactoryBulb5
Ovary4.35
Pancreas5.45
PancreaticIslet718.2
ParietalLobe6.85
Pituitary7.55
Placenta6.75
Pons6.35
PrefrontalCortex7.55
Prostate7.65
Salivarygland7.35
SkeletalMuscle7.7
Skin5.45
SmoothMuscle7.75
Spinalcord6.85
SubthalamicNucleus5.8
SuperiorCervicalGanglion7.55
TemporalLobe5.95
Testis5.55
TestisGermCell10.1
TestisIntersitial5.45
TestisLeydigCell6.4
TestisSeminiferousTubule5.45
Thalamus6.45
Thymus20.2
Thyroid7.65
Tongue6.55
Tonsil10.65
Trachea8.3
TrigeminalGanglion6.7
Uterus5
UterusCorpus6
WholeBlood331.35
Wholebrain5.25
colon59.85
pineal_day386.96
pineal_night955.26
retina50.05
small_intestine88.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15352_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.67 ± 1.05
Basal Forebrain2.52 ± 0.86
Basal Part of Pons1.34 ± 0.71
Cerebellar Cortex1.67 ± 0.75
Cerebellar Nuclei2.61 ± 0.52
Claustrum2.62 ± 1.02
Epithalamus2.02 ± 0.61
Frontal Lobe2.24 ± 0.91
Globus Pallidus2.94 ± 0.52
Hypothalamus3.61 ± 0.71
Insula1.97 ± 0.76
Limbic Lobe2.26 ± 0.94
Mesencephalon3.12 ± 0.85
Myelencephalon2.36 ± 0.98
Occipital Lobe2.18 ± 0.85
Parietal Lobe2.46 ± 1.17
Pontine Tegmentum2.37 ± 0.89
Striatum3.08 ± 0.78
Subthalamus2.36 ± 0.55
Temporal Lobe2.05 ± 0.97
Thalamus2.05 ± 0.93
White Matter2.22 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gch1CBCerebellum0.86
1.57
Gch1CTXCerebral cortex0.26
0.41
Gch1HIPHippocampal region0.26
0.38
Gch1HPFHippocampal formation0.33
0.44
Gch1HYHypothalamus0.56
0.94
Gch1LSXLateral septal complex0.09
0.37
Gch1MBMidbrain3.84
7
Gch1MYMedulla1.52
2.48
Gch1OLFOlfactory bulb1.04
2.41
Gch1PPons2.62
4.8
Gch1PALPallidum0.22
0.4
Gch1RHPRetrohippocampal region0.38
0.42
Gch1sAMYStriatum-like amygdalar nuclei0.35
0.97
Gch1STRStriatum0.17
0.32
Gch1STRdStriatum dorsal region0.13
0.16
Gch1STRvStriatum ventral region0.27
0.47
Gch1THThalamus0.34
0.64
Peptide 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


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