AutismKB 2.0

Annotation Detail for GTPBP1


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Basic Information Top
Gene Symbol:GTPBP1 ( GP-1,GP1,HSPC018,MGC20069 )
Gene Full Name: GTP binding protein 1
Band: 22q13.1
Quick LinksEntrez ID:9567; OMIM: 602245; Uniprot ID:GTPB1_HUMAN; ENSEMBL ID: ENSG00000100226; HGNC ID: 4669
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
blastocyst5 / 6231980
fetus41 / 56401272
neonate1 / 3109732
infant2 / 2362084
juvenile2 / 5555635
adult92 / 193912147
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor9 / 11424678
esophageal tumor2 / 17290115
gastrointestinal tumor1 / 1193698
germ cell tumor9 / 26384534
glioma9 / 10688384
head and neck tumor6 / 13630244
kidney tumor3 / 6895943
leukemia17 / 95842177
liver tumor4 / 9635941
lung tumor6 / 10312758
lymphoma3 / 7175541
non-neoplasia5 / 9725051
normal159 / 336030747
ovarian tumor4 / 7668252
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer5 / 10268048
retinoblastoma7 / 46356151
skin tumor7 / 12494956
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder2 / 2975767
blood8 / 12347864
bone2 / 7165527
bone marrow4 / 4880181
brain52 / 110098947
cervix0 / 481710 
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus2 / 2020998
eye22 / 211054104
heart5 / 8962655
intestine12 / 23447251
kidney13 / 21177761
larynx1 / 2414541
liver8 / 20774338
lung21 / 33697462
lymph3 / 4427067
lymph node17 / 91610185
mammary gland7 / 15327145
mouth6 / 6705289
muscle5 / 10771546
nerve1 / 1576863
ovary6 / 10205158
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta9 / 28082532
prostate7 / 18934536
salivary gland0 / 201550 
skin13 / 21057461
spleen2 / 5395237
stomach0 / 966190 
testis9 / 33044227
thymus3 / 8113136
thyroid3 / 4747363
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord2 / 13680146
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205276_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts38.85
Adipocyte36.5
AdrenalCortex72.75
Adrenalgland35
Amygdala32.1
Appendix28.85
AtrioventricularNode50.2
BDCA4+_DentriticCells26.85
Bonemarrow38.7
BronchialEpithelialCells23.8
CD105+_Endothelial29.9
CD14+_Monocytes30.55
CD19+_BCells(neg._sel.)31.1
CD33+_Myeloid29.35
CD34+27.15
CD4+_Tcells39.2
CD56+_NKCells30.05
CD71+_EarlyErythroid63.25
CD8+_Tcells26.3
CardiacMyocytes64.2
Caudatenucleus30.05
Cerebellum28
CerebellumPeduncles50.1
CiliaryGanglion41.5
CingulateCortex58.9
Colorectaladenocarcinoma31.8
DorsalRootGanglion34.85
FetalThyroid31.25
Fetalbrain33.85
Fetalliver27.8
Fetallung23
GlobusPallidus52.75
Heart58.5
Hypothalamus34.35
Kidney30.85
Leukemia_chronicMyelogenousK-56229.7
Leukemia_promyelocytic-HL-6026
Leukemialymphoblastic(MOLT-4)26.15
Liver62.95
Lung32.5
Lymphnode25.2
Lymphoma_burkitts(Daudi)45.5
Lymphoma_burkitts(Raji)47.25
MedullaOblongata29.7
OccipitalLobe29.1
OlfactoryBulb24.85
Ovary24.65
Pancreas25.1
PancreaticIslet33.15
ParietalLobe45.65
Pituitary47.6
Placenta28.7
Pons44.45
PrefrontalCortex39.15
Prostate36.15
Salivarygland31.55
SkeletalMuscle68.7
Skin32.95
SmoothMuscle36
Spinalcord45.75
SubthalamicNucleus50.5
SuperiorCervicalGanglion35.45
TemporalLobe30.7
Testis26.95
TestisGermCell24
TestisIntersitial27.9
TestisLeydigCell39.9
TestisSeminiferousTubule40.55
Thalamus57.95
Thymus22.55
Thyroid36.6
Tongue49
Tonsil31
Trachea27.1
TrigeminalGanglion32.75
Uterus25.25
UterusCorpus33.85
WholeBlood25.3
Wholebrain21.05
colon32.45
pineal_day46.56
pineal_night45.58
retina42.3
small_intestine31.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P103120
  • 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
Amygdala8.44 ± 0.37
Basal Forebrain8.56 ± 0.13
Basal Part of Pons8.29 ± 0.22
Cerebellar Cortex8.81 ± 0.22
Cerebellar Nuclei8.13 ± 0.27
Claustrum8.48 ± 0.31
Epithalamus9.12 ± 0.46
Frontal Lobe8.39 ± 0.29
Globus Pallidus8.18 ± 0.3
Hypothalamus8.35 ± 0.16
Insula8.66 ± 0.34
Limbic Lobe8.51 ± 0.39
Mesencephalon8.53 ± 0.32
Myelencephalon8.57 ± 0.35
Occipital Lobe8.85 ± 0.42
Parietal Lobe8.52 ± 0.29
Pontine Tegmentum8.46 ± 0.36
Striatum8.82 ± 0.35
Subthalamus8.2 ± 0.3
Temporal Lobe8.46 ± 0.26
Thalamus8.53 ± 0.27
White Matter8.36 ± 0.12
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GTPB1_HUMAN_37 14 37 50 SMAEQIEADVILLR PRIDE
PAp00010923 19 359 377 MCPIFQISNVTGENLDLLK 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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