AutismKB 2.0

Annotation Detail for NUP50


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Basic Information Top
Gene Symbol:NUP50 ( MGC39961,NPAP60,NPAP60L )
Gene Full Name: nucleoporin 50kDa
Band: 22q13.31
Quick LinksEntrez ID:10762; OMIM: 604646; Uniprot ID:NUP50_HUMAN; ENSEMBL ID: ENSG00000093000; HGNC ID: 8065
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 body5 / 7076170
blastocyst3 / 6231948
fetus23 / 56401240
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult137 / 193912170
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) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor40 / 263845151
glioma3 / 10688328
head and neck tumor12 / 13630288
kidney tumor2 / 6895929
leukemia10 / 95842104
liver tumor6 / 9635962
lung tumor6 / 10312758
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal198 / 336030758
ovarian tumor6 / 7668278
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor5 / 12494940
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder2 / 2975767
blood7 / 12347856
bone8 / 71655111
bone marrow2 / 4880140
brain63 / 110098957
cervix8 / 48171166
connective tissue4 / 14925526
ear1 / 1621261
embryonic tissue13 / 21572260
esophagus1 / 2020949
eye7 / 21105433
heart2 / 8962622
intestine15 / 23447263
kidney12 / 21177756
larynx1 / 2414541
liver9 / 20774343
lung15 / 33697444
lymph2 / 4427045
lymph node10 / 91610109
mammary gland19 / 153271123
mouth7 / 67052104
muscle3 / 10771527
nerve0 / 157680 
ovary6 / 10205158
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta23 / 28082581
prostate8 / 18934542
salivary gland0 / 201550 
skin5 / 21057423
spleen4 / 5395274
stomach1 / 9661910
testis54 / 330442163
thymus7 / 8113186
thyroid2 / 4747342
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218294_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts62.45
Adipocyte16
AdrenalCortex21.85
Adrenalgland14.45
Amygdala17.4
Appendix17.4
AtrioventricularNode20.6
BDCA4+_DentriticCells16.9
Bonemarrow14.55
BronchialEpithelialCells17.65
CD105+_Endothelial29.05
CD14+_Monocytes24.75
CD19+_BCells(neg._sel.)24.6
CD33+_Myeloid29.2
CD34+22.6
CD4+_Tcells35.9
CD56+_NKCells33.5
CD71+_EarlyErythroid29.95
CD8+_Tcells26.5
CardiacMyocytes31.05
Caudatenucleus12.15
Cerebellum13.7
CerebellumPeduncles18.75
CiliaryGanglion14.55
CingulateCortex22.35
Colorectaladenocarcinoma18.3
DorsalRootGanglion15.7
FetalThyroid16.35
Fetalbrain11.9
Fetalliver18.85
Fetallung12
GlobusPallidus13.75
Heart26.75
Hypothalamus16.95
Kidney13.95
Leukemia_chronicMyelogenousK-56215.05
Leukemia_promyelocytic-HL-6013.9
Leukemialymphoblastic(MOLT-4)37
Liver26.95
Lung14.45
Lymphnode15.2
Lymphoma_burkitts(Daudi)22.7
Lymphoma_burkitts(Raji)26.85
MedullaOblongata16.65
OccipitalLobe15.75
OlfactoryBulb13.8
Ovary12.8
Pancreas14.65
PancreaticIslet21.3
ParietalLobe18.65
Pituitary20.55
Placenta17.85
Pons30.25
PrefrontalCortex22.6
Prostate16.95
Salivarygland13.8
SkeletalMuscle25.3
Skin17.95
SmoothMuscle18.7
Spinalcord15.15
SubthalamicNucleus16.35
SuperiorCervicalGanglion43.15
TemporalLobe17.65
Testis13.15
TestisGermCell13.15
TestisIntersitial15.5
TestisLeydigCell17.95
TestisSeminiferousTubule15.1
Thalamus16.3
Thymus29.2
Thyroid20.7
Tongue21.55
Tonsil23.45
Trachea15.3
TrigeminalGanglion31.7
Uterus19.7
UterusCorpus16.95
WholeBlood76.05
Wholebrain14.9
colon34
pineal_day22
pineal_night22.84
retina21.425
small_intestine36.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P434768
  • 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
Amygdala8.55 ± 0.19
Basal Forebrain8.58 ± 0.22
Basal Part of Pons9.02 ± 0.21
Cerebellar Cortex8.92 ± 0.15
Cerebellar Nuclei8.78 ± 0.21
Claustrum8.58 ± 0.27
Epithalamus8.53 ± 0.23
Frontal Lobe8.67 ± 0.24
Globus Pallidus8 ± 0.17
Hypothalamus8.82 ± 0.18
Insula8.83 ± 0.25
Limbic Lobe8.45 ± 0.37
Mesencephalon8.55 ± 0.35
Myelencephalon8.58 ± 0.35
Occipital Lobe8.66 ± 0.37
Parietal Lobe8.71 ± 0.32
Pontine Tegmentum8.63 ± 0.23
Striatum8.28 ± 0.35
Subthalamus8.98 ± 0.32
Temporal Lobe8.66 ± 0.23
Thalamus8.68 ± 0.26
White Matter7.44 ± 0.22
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003608 19 174 192 HVNTNPLCDLTPIFKDYEK 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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