AutismKB 2.0

Annotation Detail for PUS3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PUS3 ( 2610020J05Rik,FLJ23638 )
Gene Full Name: pseudouridylate synthase 3
Band: 11q24.2
Quick LinksEntrez ID:83480; OMIM: NA; Uniprot ID:PUS3_HUMAN; ENSEMBL ID: ENSG00000110060; HGNC ID: 25461
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
blastocyst1 / 6231916
fetus2 / 5640123
neonate0 / 310970 
infant4 / 23620169
juvenile1 / 5555617
adult18 / 19391219
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 tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal38 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer3 / 10268029
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
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 gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone2 / 7165527
bone marrow0 / 488010 
brain13 / 110098911
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye2 / 2110549
heart1 / 8962611
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung8 / 33697423
lymph0 / 442700 
lymph node2 / 9161021
mammary gland1 / 1532716
mouth1 / 6705214
muscle7 / 10771564
nerve1 / 1576863
ovary2 / 10205119
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta2 / 2808257
prostate3 / 18934515
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221277_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.2
Adipocyte9.6
AdrenalCortex12.05
Adrenalgland9.2
Amygdala9.9
Appendix12.4
AtrioventricularNode9.1
BDCA4+_DentriticCells9.2
Bonemarrow10.8
BronchialEpithelialCells9.9
CD105+_Endothelial15
CD14+_Monocytes11.5
CD19+_BCells(neg._sel.)10.15
CD33+_Myeloid11.35
CD34+13.8
CD4+_Tcells10.55
CD56+_NKCells14.4
CD71+_EarlyErythroid9.5
CD8+_Tcells8.5
CardiacMyocytes12.75
Caudatenucleus8.45
Cerebellum8
CerebellumPeduncles11.65
CiliaryGanglion8.6
CingulateCortex10.05
Colorectaladenocarcinoma9.4
DorsalRootGanglion10.6
FetalThyroid10.45
Fetalbrain11
Fetalliver8.4
Fetallung7.65
GlobusPallidus9.35
Heart13.25
Hypothalamus9.65
Kidney9.45
Leukemia_chronicMyelogenousK-56213.6
Leukemia_promyelocytic-HL-609.15
Leukemialymphoblastic(MOLT-4)8.2
Liver14.4
Lung10
Lymphnode10.95
Lymphoma_burkitts(Daudi)15.85
Lymphoma_burkitts(Raji)14.25
MedullaOblongata8.45
OccipitalLobe8.35
OlfactoryBulb7.5
Ovary6.4
Pancreas9.3
PancreaticIslet15.8
ParietalLobe11.4
Pituitary16.75
Placenta9.35
Pons9.4
PrefrontalCortex11.4
Prostate10.9
Salivarygland8
SkeletalMuscle29.3
Skin9.35
SmoothMuscle10.5
Spinalcord12.35
SubthalamicNucleus8.6
SuperiorCervicalGanglion12.65
TemporalLobe9.45
Testis9.85
TestisGermCell8.05
TestisIntersitial7.9
TestisLeydigCell9.5
TestisSeminiferousTubule8
Thalamus9.7
Thymus7.55
Thyroid11.85
Tongue11.45
Tonsil9.7
Trachea9.15
TrigeminalGanglion9.6
Uterus7.3
UterusCorpus11.85
WholeBlood10.3
Wholebrain7.35
colon9.3
pineal_day11.52
pineal_night11.34
retina10.95
small_intestine8.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6831_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
Amygdala5.39 ± 0.48
Basal Forebrain5.27 ± 0.28
Basal Part of Pons5.1 ± 0.32
Cerebellar Cortex5.53 ± 0.18
Cerebellar Nuclei5.06 ± 0.4
Claustrum5.26 ± 0.44
Epithalamus4.97 ± 0.32
Frontal Lobe5.22 ± 0.31
Globus Pallidus5.01 ± 0.27
Hypothalamus5.5 ± 0.35
Insula5.42 ± 0.27
Limbic Lobe5.25 ± 0.32
Mesencephalon5.18 ± 0.39
Myelencephalon5.21 ± 0.32
Occipital Lobe5.24 ± 0.29
Parietal Lobe5.19 ± 0.35
Pontine Tegmentum5.29 ± 0.33
Striatum5.12 ± 0.3
Subthalamus5.16 ± 0.29
Temporal Lobe5.24 ± 0.32
Thalamus5.18 ± 0.35
White Matter4.95 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pus3CBCerebellum0.36
0.86
Pus3CTXCerebral cortex0.37
0.55
Pus3HIPHippocampal region0.38
0.5
Pus3HPFHippocampal formation0.3
0.4
Pus3HYHypothalamus0.07
0.12
Pus3LSXLateral septal complex0.09
0.07
Pus3MBMidbrain0.16
0.26
Pus3MYMedulla3.15
4.71
Pus3OLFOlfactory bulb1.02
2
Pus3PPons0.08
0.08
Pus3PALPallidum0.16
0.21
Pus3RHPRetrohippocampal region0.15
0.27
Pus3sAMYStriatum-like amygdalar nuclei0.02
0
Pus3STRStriatum0.09
0.12
Pus3STRdStriatum dorsal region0.1
0.14
Pus3STRvStriatum ventral region0.08
0.17
Pus3THThalamus0.2
0.3
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