AutismKB 2.0

Annotation Detail for UPF3B


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Basic Information Top
Gene Symbol:UPF3B ( HUPF3B,MRXS14,RENT3B,UPF3X )
Gene Full Name: UPF3 regulator of nonsense transcripts homolog B (yeast)
Band: Xq24
Quick LinksEntrez ID:65109; OMIM: 300298; Uniprot ID:REN3B_HUMAN; ENSEMBL ID: ENSG00000125351; HGNC ID: 20439
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 body2 / 7076128
blastocyst2 / 6231932
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult49 / 193912125
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 
chondrosarcoma6 / 8282372
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor19 / 26384572
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma4 / 7175555
non-neoplasia0 / 972500 
normal61 / 336030718
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood5 / 12347840
bone5 / 7165569
bone marrow1 / 4880120
brain11 / 11009899
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye1 / 2110544
heart1 / 8962611
intestine7 / 23447229
kidney3 / 21177714
larynx3 / 24145124
liver7 / 20774333
lung5 / 33697414
lymph3 / 4427067
lymph node2 / 9161021
mammary gland7 / 15327145
mouth0 / 670520 
muscle9 / 10771583
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta5 / 28082517
prostate4 / 18934521
salivary gland0 / 201550 
skin7 / 21057433
spleen2 / 5395237
stomach1 / 9661910
testis10 / 33044230
thymus3 / 8113136
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218757_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts140.4
Adipocyte5.2
AdrenalCortex5.5
Adrenalgland4.4
Amygdala8.95
Appendix5.55
AtrioventricularNode4.05
BDCA4+_DentriticCells20.15
Bonemarrow5.1
BronchialEpithelialCells5.2
CD105+_Endothelial38.7
CD14+_Monocytes5.75
CD19+_BCells(neg._sel.)12.25
CD33+_Myeloid8.9
CD34+81.6
CD4+_Tcells14.05
CD56+_NKCells55.5
CD71+_EarlyErythroid5.3
CD8+_Tcells15.75
CardiacMyocytes6.7
Caudatenucleus4.75
Cerebellum4.2
CerebellumPeduncles6
CiliaryGanglion3.8
CingulateCortex5.45
Colorectaladenocarcinoma26.3
DorsalRootGanglion4.3
FetalThyroid5.25
Fetalbrain12.3
Fetalliver4.6
Fetallung8.5
GlobusPallidus4
Heart6.65
Hypothalamus15.45
Kidney4.2
Leukemia_chronicMyelogenousK-56213.25
Leukemia_promyelocytic-HL-6012.6
Leukemialymphoblastic(MOLT-4)13.5
Liver6.95
Lung5.7
Lymphnode5.15
Lymphoma_burkitts(Daudi)11.65
Lymphoma_burkitts(Raji)9.25
MedullaOblongata4.85
OccipitalLobe4.75
OlfactoryBulb4.35
Ovary3.55
Pancreas4.15
PancreaticIslet5.75
ParietalLobe5.65
Pituitary6.2
Placenta5.3
Pons5.1
PrefrontalCortex13.65
Prostate6.15
Salivarygland4.35
SkeletalMuscle6
Skin4.3
SmoothMuscle5.95
Spinalcord6.5
SubthalamicNucleus4.95
SuperiorCervicalGanglion6.6
TemporalLobe4.9
Testis4.45
TestisGermCell4.6
TestisIntersitial4.4
TestisLeydigCell5.25
TestisSeminiferousTubule4.55
Thalamus5.45
Thymus4.15
Thyroid9.7
Tongue5.2
Tonsil6.2
Trachea4.45
TrigeminalGanglion5.55
Uterus7.25
UterusCorpus4.75
WholeBlood6.55
Wholebrain4.5
colon5.3
pineal_day34.9
pineal_night26.56
retina7.5
small_intestine5.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P45409
  • 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
Amygdala6.98 ± 0.38
Basal Forebrain7.14 ± 0.2
Basal Part of Pons7.19 ± 0.17
Cerebellar Cortex7.33 ± 0.19
Cerebellar Nuclei7.14 ± 0.26
Claustrum7.08 ± 0.43
Epithalamus7.37 ± 0.31
Frontal Lobe6.95 ± 0.31
Globus Pallidus7.47 ± 0.34
Hypothalamus7.16 ± 0.29
Insula7.06 ± 0.35
Limbic Lobe7 ± 0.3
Mesencephalon7.02 ± 0.38
Myelencephalon7.08 ± 0.36
Occipital Lobe7.25 ± 0.37
Parietal Lobe7.1 ± 0.3
Pontine Tegmentum7.09 ± 0.33
Striatum7.18 ± 0.39
Subthalamus7.16 ± 0.47
Temporal Lobe7.08 ± 0.27
Thalamus7.09 ± 0.25
White Matter7.61 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Upf3bCBCerebellum2.02
3.21
Upf3bCTXCerebral cortex0.46
0.39
Upf3bHIPHippocampal region0.42
0.5
Upf3bHPFHippocampal formation0.42
0.45
Upf3bHYHypothalamus0.31
0.36
Upf3bLSXLateral septal complex0.31
0.34
Upf3bMBMidbrain0.52
0.66
Upf3bMYMedulla0.39
0.38
Upf3bOLFOlfactory bulb0.48
1.83
Upf3bPPons0.86
0.87
Upf3bPALPallidum0.2
0.11
Upf3bRHPRetrohippocampal region0.38
0.38
Upf3bsAMYStriatum-like amygdalar nuclei0.09
0.27
Upf3bSTRStriatum0.22
0.41
Upf3bSTRdStriatum dorsal region0.25
0.5
Upf3bSTRvStriatum ventral region0.12
0.31
Upf3bTHThalamus0.42
0.52
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00071225 13 393 405 KAESTESIGSSEK Peptide Atlas
REN3B_HUMAN_1 13 1 13 MKEEKEHRPKEKR PRIDE

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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