AutismKB 2.0

Annotation Detail for GPN3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GPN3 ( ATPBD1C,MGC14560,MGC32810 )
Gene Full Name: GPN-loop GTPase 3
Band: 12q24.11
Quick LinksEntrez ID:51184; OMIM: NA; Uniprot ID:GPN3_HUMAN; ENSEMBL ID: ENSG00000111231; HGNC ID: 30186
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
blastocyst2 / 6231932
fetus13 / 56401223
neonate1 / 3109732
infant0 / 236200 
juvenile3 / 5555653
adult54 / 193912127
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor5 / 26384518
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia8 / 9584283
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma4 / 7175555
non-neoplasia4 / 9725041
normal80 / 336030723
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder2 / 2975767
blood3 / 12347824
bone6 / 7165583
bone marrow5 / 48801102
brain22 / 110098919
cervix0 / 481710 
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye8 / 21105437
heart3 / 8962633
intestine4 / 23447217
kidney13 / 21177761
larynx0 / 241450 
liver3 / 20774314
lung21 / 33697462
lymph2 / 4427045
lymph node1 / 9161010
mammary gland3 / 15327119
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta6 / 28082521
prostate8 / 18934542
salivary gland3 / 20155148
skin3 / 21057414
spleen1 / 5395218
stomach2 / 9661920
testis17 / 33044251
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus7 / 23287830
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218461_at
Cell line Expression level Expression bar
721_B_lymphoblasts63.3
Adipocyte27.65
AdrenalCortex29.35
Adrenalgland16.5
Amygdala20.3
Appendix29
AtrioventricularNode25.7
BDCA4+_DentriticCells24.1
Bonemarrow22.35
BronchialEpithelialCells35.5
CD105+_Endothelial68.1
CD14+_Monocytes26
CD19+_BCells(neg._sel.)21.45
CD33+_Myeloid41.15
CD34+43.7
CD4+_Tcells12.8
CD56+_NKCells17
CD71+_EarlyErythroid32.2
CD8+_Tcells14.8
CardiacMyocytes43.55
Caudatenucleus14.2
Cerebellum12.5
CerebellumPeduncles20.95
CiliaryGanglion25.3
CingulateCortex18.9
Colorectaladenocarcinoma22.2
DorsalRootGanglion22.05
FetalThyroid22.05
Fetalbrain13.95
Fetalliver14.1
Fetallung14
GlobusPallidus18.15
Heart27.35
Hypothalamus27.75
Kidney18
Leukemia_chronicMyelogenousK-56242.6
Leukemia_promyelocytic-HL-6048.35
Leukemialymphoblastic(MOLT-4)29.35
Liver33.95
Lung15.65
Lymphnode10.65
Lymphoma_burkitts(Daudi)69.45
Lymphoma_burkitts(Raji)31.25
MedullaOblongata13.85
OccipitalLobe14.2
OlfactoryBulb11.55
Ovary19
Pancreas15.15
PancreaticIslet23.45
ParietalLobe18.65
Pituitary20.1
Placenta22.8
Pons15.05
PrefrontalCortex15.8
Prostate21.8
Salivarygland15.2
SkeletalMuscle40.15
Skin21.75
SmoothMuscle22.35
Spinalcord16.15
SubthalamicNucleus16.2
SuperiorCervicalGanglion41.1
TemporalLobe15.8
Testis23.95
TestisGermCell28.8
TestisIntersitial42.45
TestisLeydigCell51.7
TestisSeminiferousTubule55.15
Thalamus17.7
Thymus12.15
Thyroid28.85
Tongue23.15
Tonsil16.55
Trachea12.8
TrigeminalGanglion33.9
Uterus21.75
UterusCorpus22.95
WholeBlood23.15
Wholebrain13
colon13.8
pineal_day21.92
pineal_night29.14
retina19.375
small_intestine12.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7068_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
Amygdala8.43 ± 0.3
Basal Forebrain8.66 ± 0.17
Basal Part of Pons8.69 ± 0.15
Cerebellar Cortex8.89 ± 0.23
Cerebellar Nuclei9.16 ± 0.27
Claustrum8.34 ± 0.43
Epithalamus8.74 ± 0.28
Frontal Lobe8.61 ± 0.38
Globus Pallidus9.16 ± 0.33
Hypothalamus8.93 ± 0.18
Insula8.69 ± 0.18
Limbic Lobe8.54 ± 0.41
Mesencephalon8.73 ± 0.39
Myelencephalon8.62 ± 0.33
Occipital Lobe8.67 ± 0.24
Parietal Lobe8.61 ± 0.27
Pontine Tegmentum8.73 ± 0.31
Striatum8.52 ± 0.31
Subthalamus9.06 ± 0.2
Temporal Lobe8.59 ± 0.33
Thalamus8.63 ± 0.3
White Matter9.91 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atpbd1cCBCerebellum1.98
2.38
Atpbd1cCTXCerebral cortex0.43
0.68
Atpbd1cHIPHippocampal region2.54
2.61
Atpbd1cHPFHippocampal formation1.86
1.88
Atpbd1cHYHypothalamus1.65
3.66
Atpbd1cLSXLateral septal complex0.19
0.17
Atpbd1cMBMidbrain0.79
1.65
Atpbd1cMYMedulla2.26
5.1
Atpbd1cOLFOlfactory bulb1.48
1.89
Atpbd1cPPons2.94
7.28
Atpbd1cPALPallidum0.6
0.64
Atpbd1cRHPRetrohippocampal region0.35
0.62
Atpbd1csAMYStriatum-like amygdalar nuclei0.2
0.22
Atpbd1cSTRStriatum0.42
0.53
Atpbd1cSTRdStriatum dorsal region0.14
0.16
Atpbd1cSTRvStriatum ventral region1.79
2.09
Atpbd1cTHThalamus1.23
1.25
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