AutismKB 2.0

Annotation Detail for GMPS


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Basic Information Top
Gene Symbol:GMPS ( - )
Gene Full Name: guanine monphosphate synthetase
Band: 3q25.31
Quick LinksEntrez ID:8833; OMIM: 600358; Uniprot ID:GUAA_HUMAN; ENSEMBL ID: ENSG00000163655; HGNC ID: 4378
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 body4 / 7076156
blastocyst0 / 623190 
fetus43 / 56401276
neonate5 / 31097160
infant0 / 236200 
juvenile14 / 55556251
adult89 / 193912145
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor16 / 94178169
cervical tumor5 / 34366145
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor15 / 119369125
germ cell tumor29 / 263845109
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor15 / 96359155
lung tumor1 / 1031279
lymphoma4 / 7175555
non-neoplasia5 / 9725051
normal160 / 336030747
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS25 / 125680198
prostate cancer4 / 10268038
retinoblastoma3 / 4635664
skin tumor7 / 12494956
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites7 / 40015174
bladder2 / 2975767
blood21 / 123478170
bone0 / 716550 
bone marrow3 / 4880161
brain44 / 110098939
cervix6 / 48171124
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus5 / 20209247
eye7 / 21105433
heart2 / 8962622
intestine8 / 23447234
kidney11 / 21177751
larynx0 / 241450 
liver17 / 20774381
lung5 / 33697414
lymph4 / 4427090
lymph node3 / 9161032
mammary gland16 / 153271104
mouth5 / 6705274
muscle8 / 10771574
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta12 / 28082542
prostate5 / 18934526
salivary gland0 / 201550 
skin10 / 21057447
spleen2 / 5395237
stomach7 / 9661972
testis45 / 330442136
thymus4 / 8113149
thyroid3 / 4747363
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord1 / 1368073
uterus9 / 23287838
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214431_at
Cell line Expression level Expression bar
721_B_lymphoblasts664.05
Adipocyte40.95
AdrenalCortex58.8
Adrenalgland41.85
Amygdala24.2
Appendix45.3
AtrioventricularNode36.15
BDCA4+_DentriticCells92.1
Bonemarrow46.5
BronchialEpithelialCells230.75
CD105+_Endothelial455.1
CD14+_Monocytes85.25
CD19+_BCells(neg._sel.)122.05
CD33+_Myeloid96.6
CD34+346.55
CD4+_Tcells68.9
CD56+_NKCells139.45
CD71+_EarlyErythroid352.45
CD8+_Tcells77.9
CardiacMyocytes103.55
Caudatenucleus40.6
Cerebellum27.8
CerebellumPeduncles51.4
CiliaryGanglion18.55
CingulateCortex42.3
Colorectaladenocarcinoma229.9
DorsalRootGanglion28.25
FetalThyroid53.85
Fetalbrain39.05
Fetalliver66.2
Fetallung44.45
GlobusPallidus24.15
Heart32.55
Hypothalamus41.45
Kidney38.35
Leukemia_chronicMyelogenousK-562277.9
Leukemia_promyelocytic-HL-60283.55
Leukemialymphoblastic(MOLT-4)265.9
Liver55.9
Lung26.85
Lymphnode34.4
Lymphoma_burkitts(Daudi)453
Lymphoma_burkitts(Raji)113.6
MedullaOblongata37.15
OccipitalLobe36.35
OlfactoryBulb32.55
Ovary40.2
Pancreas58.3
PancreaticIslet76.55
ParietalLobe33.35
Pituitary50.25
Placenta44.9
Pons42.8
PrefrontalCortex24.05
Prostate46.65
Salivarygland46.45
SkeletalMuscle53.8
Skin42.25
SmoothMuscle87.9
Spinalcord42.2
SubthalamicNucleus33
SuperiorCervicalGanglion52.2
TemporalLobe39.6
Testis359.25
TestisGermCell381.2
TestisIntersitial427.45
TestisLeydigCell282.9
TestisSeminiferousTubule299.55
Thalamus45.15
Thymus57.6
Thyroid48.3
Tongue44.95
Tonsil47.75
Trachea39.15
TrigeminalGanglion31.6
Uterus36.5
UterusCorpus47.1
WholeBlood50.3
Wholebrain29.2
colon46
pineal_day11.32
pineal_night9.68
retina31.15
small_intestine50.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7705_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
Amygdala5.23 ± 0.48
Basal Forebrain5.29 ± 0.16
Basal Part of Pons5.76 ± 0.29
Cerebellar Cortex5.76 ± 0.25
Cerebellar Nuclei5.39 ± 0.48
Claustrum4.97 ± 0.61
Epithalamus5.52 ± 0.47
Frontal Lobe5.57 ± 0.34
Globus Pallidus4.91 ± 0.5
Hypothalamus5.28 ± 0.45
Insula5.46 ± 0.21
Limbic Lobe5.2 ± 0.42
Mesencephalon5.41 ± 0.39
Myelencephalon5.33 ± 0.47
Occipital Lobe5.23 ± 0.48
Parietal Lobe5.36 ± 0.39
Pontine Tegmentum5.44 ± 0.44
Striatum5.2 ± 0.41
Subthalamus5.28 ± 0.16
Temporal Lobe5.39 ± 0.48
Thalamus5.55 ± 0.4
White Matter5.2 ± 0.29
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GUAA_HUMAN_467 10 467 476 IVADFSASVK PRIDE
GUAA_HUMAN_497 18 497 514 LMQITSLHSLNAFLLPIK PRIDE
GUAA_HUMAN_590 11 590 600 QADFEAHNILR PRIDE
GUAA_HUMAN_608 15 608 622 ISQMPVILTPLHFDR PRIDE
PAp00000238 10 488 497 ACTTEEDQEK 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


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