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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body1 / 7076114
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult27 / 193912113
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) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal52 / 336030715
ovarian tumor1 / 7668213
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow0 / 488010 
brain7 / 11009896
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine4 / 23447217
kidney8 / 21177737
larynx0 / 241450 
liver7 / 20774333
lung9 / 33697426
lymph4 / 4427090
lymph node3 / 9161032
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate8 / 18934542
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil3 / 16999176
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204867_at
Cell line Expression level Expression bar
721_B_lymphoblasts55.35
Adipocyte18.2
AdrenalCortex6.35
Adrenalgland4.55
Amygdala5.3
Appendix5.25
AtrioventricularNode4
BDCA4+_DentriticCells14.8
Bonemarrow5.5
BronchialEpithelialCells5.15
CD105+_Endothelial8.5
CD14+_Monocytes11.4
CD19+_BCells(neg._sel.)9.6
CD33+_Myeloid16.6
CD34+8.95
CD4+_Tcells11.8
CD56+_NKCells62.5
CD71+_EarlyErythroid5.2
CD8+_Tcells11.35
CardiacMyocytes6.3
Caudatenucleus4.6
Cerebellum5.75
CerebellumPeduncles6.35
CiliaryGanglion3.9
CingulateCortex5.35
Colorectaladenocarcinoma39.15
DorsalRootGanglion3.9
FetalThyroid6.2
Fetalbrain5.05
Fetalliver6.25
Fetallung4.8
GlobusPallidus3.75
Heart7.3
Hypothalamus5.75
Kidney62.4
Leukemia_chronicMyelogenousK-5624.8
Leukemia_promyelocytic-HL-6034.85
Leukemialymphoblastic(MOLT-4)6.8
Liver1027.95
Lung668.8
Lymphnode9.65
Lymphoma_burkitts(Daudi)44.35
Lymphoma_burkitts(Raji)87.1
MedullaOblongata4.9
OccipitalLobe4.45
OlfactoryBulb4.1
Ovary3.5
Pancreas4.45
PancreaticIslet5.55
ParietalLobe5.7
Pituitary6.1
Placenta5.3
Pons4.95
PrefrontalCortex6.45
Prostate35.65
Salivarygland4.25
SkeletalMuscle6
Skin3.9
SmoothMuscle5.95
Spinalcord5.5
SubthalamicNucleus4.75
SuperiorCervicalGanglion5.85
TemporalLobe4.8
Testis4.75
TestisGermCell4.45
TestisIntersitial4.45
TestisLeydigCell5.4
TestisSeminiferousTubule4.4
Thalamus5.25
Thymus36.75
Thyroid6.9
Tongue5.25
Tonsil5.25
Trachea4.5
TrigeminalGanglion5.4
Uterus4.2
UterusCorpus4.55
WholeBlood6.15
Wholebrain4.2
colon14.5
pineal_day6.44
pineal_night6.3
retina6.375
small_intestine55.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6922_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
Amygdala5.41 ± 0.82
Basal Forebrain5.78 ± 0.34
Basal Part of Pons6.35 ± 0.35
Cerebellar Cortex6.18 ± 0.38
Cerebellar Nuclei5.96 ± 0.54
Claustrum5.09 ± 0.79
Epithalamus6.03 ± 0.47
Frontal Lobe5.52 ± 0.61
Globus Pallidus4.5 ± 0.43
Hypothalamus5.96 ± 0.54
Insula5.54 ± 0.52
Limbic Lobe5.37 ± 0.69
Mesencephalon5.16 ± 1.05
Myelencephalon5.46 ± 0.82
Occipital Lobe5.02 ± 0.62
Parietal Lobe5.62 ± 0.71
Pontine Tegmentum5.16 ± 0.6
Striatum4.36 ± 0.61
Subthalamus5.99 ± 0.89
Temporal Lobe5.41 ± 0.6
Thalamus5.31 ± 0.79
White Matter2.94 ± 1.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GchfrCBCerebellum3.31
3.6
GchfrCTXCerebral cortex0.47
0.68
GchfrHIPHippocampal region0.25
0.31
GchfrHPFHippocampal formation0.23
0.28
GchfrHYHypothalamus0.2
0.26
GchfrLSXLateral septal complex0.32
0.25
GchfrMBMidbrain1.5
2.89
GchfrMYMedulla1.26
1.5
GchfrOLFOlfactory bulb0.35
1.16
GchfrPPons2.7
4.07
GchfrPALPallidum0.28
0.37
GchfrRHPRetrohippocampal region0.2
0.25
GchfrsAMYStriatum-like amygdalar nuclei0.13
0.3
GchfrSTRStriatum0.19
0.22
GchfrSTRdStriatum dorsal region0.15
0.18
GchfrSTRvStriatum ventral region0.29
0.28
GchfrTHThalamus0.2
0.36
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00074626 25 12 36 MEVGPTMVGDEQSDPELMQHLGASK Peptide Atlas

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