AutismKB 2.0

Annotation Detail for RPUSD3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RPUSD3 ( FLJ34707,FLJ37268,MGC29784 )
Gene Full Name: RNA pseudouridylate synthase domain containing 3
Band: 3p25.3
Quick LinksEntrez ID:285367; OMIM: NA; Uniprot ID:RUSD3_HUMAN; ENSEMBL ID: ENSG00000156990; HGNC ID: 28437
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 body0 / 707610 
blastocyst2 / 6231932
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult64 / 193912133
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor3 / 3436687
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor13 / 26384549
glioma9 / 10688384
head and neck tumor5 / 13630236
kidney tumor4 / 6895958
leukemia6 / 9584262
liver tumor4 / 9635941
lung tumor6 / 10312758
lymphoma6 / 7175583
non-neoplasia1 / 9725010
normal99 / 336030729
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer4 / 10268038
retinoblastoma10 / 46356215
skin tumor9 / 12494972
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder3 / 29757100
blood11 / 12347889
bone3 / 7165541
bone marrow2 / 4880140
brain41 / 110098937
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye15 / 21105471
heart0 / 896260 
intestine4 / 23447217
kidney7 / 21177733
larynx1 / 2414541
liver5 / 20774324
lung9 / 33697426
lymph3 / 4427067
lymph node4 / 9161043
mammary gland3 / 15327119
mouth0 / 670520 
muscle4 / 10771537
nerve1 / 1576863
ovary4 / 10205139
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta15 / 28082553
prostate7 / 18934536
salivary gland4 / 20155198
skin10 / 21057447
spleen1 / 5395218
stomach5 / 9661951
testis14 / 33044242
thymus5 / 8113161
thyroid4 / 4747384
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P255916
  • 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
Amygdala5.63 ± 0.51
Basal Forebrain5.71 ± 0.48
Basal Part of Pons6.03 ± 0.61
Cerebellar Cortex6.45 ± 0.41
Cerebellar Nuclei5.54 ± 0.7
Claustrum5.17 ± 0.82
Epithalamus5.64 ± 0.69
Frontal Lobe5.99 ± 0.66
Globus Pallidus5.05 ± 0.4
Hypothalamus5.51 ± 0.76
Insula6.1 ± 0.23
Limbic Lobe5.79 ± 0.63
Mesencephalon5.77 ± 0.53
Myelencephalon5.83 ± 0.59
Occipital Lobe5.74 ± 0.39
Parietal Lobe5.8 ± 0.53
Pontine Tegmentum5.71 ± 0.69
Striatum5.27 ± 0.5
Subthalamus6.25 ± 0.17
Temporal Lobe6.13 ± 0.45
Thalamus5.89 ± 0.54
White Matter5.21 ± 0.57
Mouse Brain ISH
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