AutismKB 2.0

Annotation Detail for UPF1


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Basic Information Top
Gene Symbol:UPF1 ( FLJ43809,FLJ46894,HUPF1,KIAA0221,NORF1,RENT1,pNORF1 )
Gene Full Name: UPF1 regulator of nonsense transcripts homolog (yeast)
Band: 19p13.11
Quick LinksEntrez ID:5976; OMIM: 601430; Uniprot ID:RENT1_HUMAN; ENSEMBL ID: ENSG00000005007; HGNC ID: 9962
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 body12 / 70761169
blastocyst5 / 6231980
fetus39 / 56401269
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult145 / 193912174
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor20 / 26384575
glioma16 / 106883149
head and neck tumor13 / 13630295
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor2 / 9635920
lung tumor7 / 10312767
lymphoma8 / 71755111
non-neoplasia5 / 9725051
normal239 / 336030771
ovarian tumor0 / 766820 
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor23 / 124949184
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder2 / 2975767
blood9 / 12347872
bone2 / 7165527
bone marrow1 / 4880120
brain53 / 110098948
cervix4 / 4817183
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus0 / 202090 
eye14 / 21105466
heart5 / 8962655
intestine16 / 23447268
kidney8 / 21177737
larynx2 / 2414582
liver9 / 20774343
lung26 / 33697477
lymph3 / 4427067
lymph node18 / 91610196
mammary gland6 / 15327139
mouth6 / 6705289
muscle2 / 10771518
nerve2 / 15768126
ovary1 / 1020519
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta32 / 280825113
prostate9 / 18934547
salivary gland4 / 20155198
skin31 / 210574147
spleen3 / 5395255
stomach2 / 9661920
testis48 / 330442145
thymus3 / 8113136
thyroid4 / 4747384
tonsil1 / 1699958
trachea4 / 5241376
umbilical cord0 / 136800 
uterus20 / 23287885
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211168_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts48.85
Adipocyte13.25
AdrenalCortex10.65
Adrenalgland11.2
Amygdala14.3
Appendix11.35
AtrioventricularNode9.5
BDCA4+_DentriticCells18.65
Bonemarrow13
BronchialEpithelialCells13.3
CD105+_Endothelial13.65
CD14+_Monocytes39.25
CD19+_BCells(neg._sel.)15.7
CD33+_Myeloid18.9
CD34+32.1
CD4+_Tcells25
CD56+_NKCells35.2
CD71+_EarlyErythroid13.7
CD8+_Tcells23.65
CardiacMyocytes16.4
Caudatenucleus11.95
Cerebellum11
CerebellumPeduncles17.3
CiliaryGanglion8.95
CingulateCortex13.5
Colorectaladenocarcinoma13.55
DorsalRootGanglion9.65
FetalThyroid12.95
Fetalbrain13.5
Fetalliver10.6
Fetallung11.3
GlobusPallidus9.45
Heart16.5
Hypothalamus14.75
Kidney10.7
Leukemia_chronicMyelogenousK-56213.4
Leukemia_promyelocytic-HL-6011.9
Leukemialymphoblastic(MOLT-4)13.7
Liver17.45
Lung49.2
Lymphnode11.65
Lymphoma_burkitts(Daudi)16.9
Lymphoma_burkitts(Raji)21.8
MedullaOblongata12.35
OccipitalLobe12.05
OlfactoryBulb9.5
Ovary8.55
Pancreas9.9
PancreaticIslet11.05
ParietalLobe12.1
Pituitary15.4
Placenta14.15
Pons12.6
PrefrontalCortex17.85
Prostate111
Salivarygland10.45
SkeletalMuscle14.2
Skin9.75
SmoothMuscle15.15
Spinalcord14.35
SubthalamicNucleus11.8
SuperiorCervicalGanglion14.5
TemporalLobe12.05
Testis11.65
TestisGermCell11.4
TestisIntersitial11.2
TestisLeydigCell13.05
TestisSeminiferousTubule13.6
Thalamus13.5
Thymus12.75
Thyroid22.75
Tongue12.75
Tonsil12.95
Trachea11.25
TrigeminalGanglion12.55
Uterus11
UterusCorpus11.5
WholeBlood37
Wholebrain12.6
colon9.55
pineal_day21.42
pineal_night19.12
retina16.525
small_intestine7.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9234_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
Amygdala7.87 ± 0.3
Basal Forebrain7.99 ± 0.15
Basal Part of Pons8.12 ± 0.23
Cerebellar Cortex8.33 ± 0.22
Cerebellar Nuclei7.95 ± 0.28
Claustrum7.75 ± 0.38
Epithalamus8.19 ± 0.46
Frontal Lobe7.98 ± 0.31
Globus Pallidus8.1 ± 0.27
Hypothalamus7.93 ± 0.29
Insula8.07 ± 0.37
Limbic Lobe8 ± 0.33
Mesencephalon7.95 ± 0.29
Myelencephalon8.06 ± 0.27
Occipital Lobe8.12 ± 0.21
Parietal Lobe8 ± 0.26
Pontine Tegmentum8.01 ± 0.32
Striatum7.84 ± 0.24
Subthalamus7.97 ± 0.11
Temporal Lobe8.11 ± 0.27
Thalamus8.06 ± 0.27
White Matter8.65 ± 0.13
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Upf1CBCerebellum75.15
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000968 8 237 244 CFLSWLVK 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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