AutismKB 2.0

Annotation Detail for UPF2


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Basic Information Top
Gene Symbol:UPF2 ( DKFZp434D222,HUPF2,KIAA1408,MGC138834,MGC138835,RENT2,smg-3 )
Gene Full Name: UPF2 regulator of nonsense transcripts homolog (yeast)
Band: 10p14
Quick LinksEntrez ID:26019; OMIM: 605529; Uniprot ID:RENT2_HUMAN; ENSEMBL ID: ENSG00000151461; HGNC ID: 17854
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
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult78 / 193912140
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) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor10 / 11424687
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor11 / 13630280
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal107 / 336030731
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites2 / 4001549
bladder0 / 297570 
blood5 / 12347840
bone2 / 7165527
bone marrow3 / 4880161
brain11 / 11009899
cervix0 / 481710 
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye11 / 21105452
heart1 / 8962611
intestine12 / 23447251
kidney5 / 21177723
larynx1 / 2414541
liver5 / 20774324
lung13 / 33697438
lymph1 / 4427022
lymph node7 / 9161076
mammary gland11 / 15327171
mouth5 / 6705274
muscle2 / 10771518
nerve1 / 1576863
ovary4 / 10205139
pancreas4 / 21481218
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate5 / 18934526
salivary gland5 / 20155248
skin3 / 21057414
spleen3 / 5395255
stomach1 / 9661910
testis15 / 33044245
thymus5 / 8113161
thyroid1 / 4747321
tonsil3 / 16999176
trachea4 / 5241376
umbilical cord0 / 136800 
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203519_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts93.1
Adipocyte12.25
AdrenalCortex12.65
Adrenalgland9.8
Amygdala16.75
Appendix18.2
AtrioventricularNode12.4
BDCA4+_DentriticCells68.1
Bonemarrow12
BronchialEpithelialCells11.6
CD105+_Endothelial79.35
CD14+_Monocytes41.5
CD19+_BCells(neg._sel.)114.4
CD33+_Myeloid55.2
CD34+135.25
CD4+_Tcells69.9
CD56+_NKCells135.7
CD71+_EarlyErythroid25.5
CD8+_Tcells82.2
CardiacMyocytes16.75
Caudatenucleus13.9
Cerebellum9.35
CerebellumPeduncles14.15
CiliaryGanglion12.75
CingulateCortex15.45
Colorectaladenocarcinoma12.15
DorsalRootGanglion13.4
FetalThyroid14.3
Fetalbrain27.25
Fetalliver11.75
Fetallung16
GlobusPallidus10.3
Heart14.1
Hypothalamus18.7
Kidney9.45
Leukemia_chronicMyelogenousK-56230.65
Leukemia_promyelocytic-HL-6039.8
Leukemialymphoblastic(MOLT-4)19.3
Liver14.1
Lung11.1
Lymphnode32.6
Lymphoma_burkitts(Daudi)40.55
Lymphoma_burkitts(Raji)30.4
MedullaOblongata15.25
OccipitalLobe13.45
OlfactoryBulb17.35
Ovary9.65
Pancreas14.9
PancreaticIslet14.95
ParietalLobe13.8
Pituitary15.75
Placenta8.5
Pons12.25
PrefrontalCortex25.2
Prostate14.55
Salivarygland10.95
SkeletalMuscle16.6
Skin14.65
SmoothMuscle15.45
Spinalcord14.55
SubthalamicNucleus15.85
SuperiorCervicalGanglion14
TemporalLobe12.8
Testis10.4
TestisGermCell28.8
TestisIntersitial25.75
TestisLeydigCell16.2
TestisSeminiferousTubule23.35
Thalamus12.35
Thymus10.65
Thyroid29.05
Tongue15.25
Tonsil16.55
Trachea9.6
TrigeminalGanglion13.95
Uterus22.05
UterusCorpus12.75
WholeBlood53.7
Wholebrain9.6
colon9.85
pineal_day19.22
pineal_night17.06
retina14.325
small_intestine8.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8505_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
Amygdala6.1 ± 0.5
Basal Forebrain5.75 ± 0.21
Basal Part of Pons5.65 ± 0.53
Cerebellar Cortex5.76 ± 0.35
Cerebellar Nuclei5.73 ± 0.25
Claustrum5.94 ± 0.6
Epithalamus5.51 ± 0.46
Frontal Lobe5.47 ± 0.35
Globus Pallidus5.63 ± 0.46
Hypothalamus5.38 ± 0.4
Insula5.52 ± 0.33
Limbic Lobe5.75 ± 0.41
Mesencephalon5.68 ± 0.4
Myelencephalon5.67 ± 0.4
Occipital Lobe6.03 ± 0.42
Parietal Lobe5.76 ± 0.36
Pontine Tegmentum5.64 ± 0.43
Striatum5.84 ± 0.39
Subthalamus5.52 ± 0.78
Temporal Lobe5.61 ± 0.36
Thalamus5.59 ± 0.32
White Matter5.83 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Upf2CBCerebellum4.12
4.2
Upf2CTXCerebral cortex2.74
2.12
Upf2HIPHippocampal region7.89
7.6
Upf2HPFHippocampal formation5.94
5.25
Upf2HYHypothalamus0.78
0.59
Upf2LSXLateral septal complex0.84
0.55
Upf2MBMidbrain3.1
3.19
Upf2MYMedulla3.52
4.11
Upf2OLFOlfactory bulb5.34
3.94
Upf2PPons5.62
6.84
Upf2PALPallidum0.4
0.28
Upf2RHPRetrohippocampal region3.23
2.45
Upf2sAMYStriatum-like amygdalar nuclei0.22
0.15
Upf2STRStriatum0.53
0.45
Upf2STRdStriatum dorsal region0.31
0.38
Upf2STRvStriatum ventral region1.49
0.87
Upf2THThalamus2.34
2.1
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003609 16 1104 1119 HVPCVEDEDFIQALDK 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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