AutismKB 2.0

Annotation Detail for NUP188


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Basic Information Top
Gene Symbol:NUP188 ( FLJ21639,KIAA0169 )
Gene Full Name: nucleoporin 188kDa
Band: 9q34.11
Quick LinksEntrez ID:23511; OMIM: NA; Uniprot ID:NU188_HUMAN; ENSEMBL ID: ENSG00000095319; HGNC ID: 17859
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 body8 / 70761113
blastocyst11 / 62319176
fetus20 / 56401235
neonate2 / 3109764
infant1 / 2362042
juvenile1 / 5555617
adult138 / 193912171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor13 / 94178138
cervical tumor6 / 34366174
chondrosarcoma6 / 8282372
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor23 / 26384587
glioma12 / 106883112
head and neck tumor2 / 13630214
kidney tumor9 / 68959130
leukemia3 / 9584231
liver tumor3 / 9635931
lung tumor19 / 103127184
lymphoma26 / 71755362
non-neoplasia2 / 9725020
normal168 / 336030749
ovarian tumor4 / 7668252
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS20 / 125680159
prostate cancer9 / 10268087
retinoblastoma10 / 46356215
skin tumor42 / 124949336
soft tissue/muscle tissue tumor54 / 125191431
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites3 / 4001574
bladder0 / 297570 
blood17 / 123478137
bone3 / 7165541
bone marrow0 / 488010 
brain50 / 110098945
cervix8 / 48171166
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue25 / 215722115
esophagus0 / 202090 
eye16 / 21105475
heart1 / 8962611
intestine21 / 23447289
kidney17 / 21177780
larynx2 / 2414582
liver4 / 20774319
lung29 / 33697486
lymph24 / 44270542
lymph node14 / 91610152
mammary gland13 / 15327184
mouth1 / 6705214
muscle11 / 107715102
nerve1 / 1576863
ovary6 / 10205158
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta10 / 28082535
prostate12 / 18934563
salivary gland0 / 201550 
skin43 / 210574204
spleen1 / 5395218
stomach2 / 9661920
testis29 / 33044287
thymus5 / 8113161
thyroid0 / 474730 
tonsil4 / 16999235
trachea1 / 5241319
umbilical cord0 / 136800 
uterus52 / 232878223
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212691_at
Cell line Expression level Expression bar
721_B_lymphoblasts35.5
Adipocyte5.15
AdrenalCortex5.25
Adrenalgland4.4
Amygdala4.85
Appendix5.15
AtrioventricularNode3.8
BDCA4+_DentriticCells7.7
Bonemarrow5.05
BronchialEpithelialCells8.8
CD105+_Endothelial11.6
CD14+_Monocytes7.6
CD19+_BCells(neg._sel.)6.35
CD33+_Myeloid8.2
CD34+18.95
CD4+_Tcells29.45
CD56+_NKCells10.45
CD71+_EarlyErythroid21.25
CD8+_Tcells27.05
CardiacMyocytes8.2
Caudatenucleus4.7
Cerebellum4.2
CerebellumPeduncles5.85
CiliaryGanglion3.5
CingulateCortex5.35
Colorectaladenocarcinoma33.2
DorsalRootGanglion3.9
FetalThyroid5.1
Fetalbrain5.2
Fetalliver4.5
Fetallung4.95
GlobusPallidus3.7
Heart6.5
Hypothalamus5.75
Kidney4.15
Leukemia_chronicMyelogenousK-56213.5
Leukemia_promyelocytic-HL-608.45
Leukemialymphoblastic(MOLT-4)14.25
Liver6.7
Lung5.85
Lymphnode4.6
Lymphoma_burkitts(Daudi)15.45
Lymphoma_burkitts(Raji)8.3
MedullaOblongata4.75
OccipitalLobe4.65
OlfactoryBulb4.15
Ovary3.45
Pancreas4.1
PancreaticIslet5.55
ParietalLobe5.4
Pituitary6.15
Placenta5.5
Pons4.9
PrefrontalCortex6.55
Prostate13.35
Salivarygland4.2
SkeletalMuscle5.75
Skin3.9
SmoothMuscle6
Spinalcord5.6
SubthalamicNucleus4.7
SuperiorCervicalGanglion5.75
TemporalLobe4.75
Testis42.15
TestisGermCell27.7
TestisIntersitial54.65
TestisLeydigCell39.75
TestisSeminiferousTubule45.6
Thalamus5.3
Thymus5.6
Thyroid6.55
Tongue5.05
Tonsil6.4
Trachea4.4
TrigeminalGanglion4.05
Uterus4.3
UterusCorpus4.55
WholeBlood5.8
Wholebrain4.5
colon5.25
pineal_day6.68
pineal_night6.82
retina6.45
small_intestine5.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5515_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
Amygdala2.78 ± 0.96
Basal Forebrain2.61 ± 0.56
Basal Part of Pons2.08 ± 0.34
Cerebellar Cortex2.62 ± 0.77
Cerebellar Nuclei2.6 ± 0.64
Claustrum3.3 ± 1
Epithalamus2.13 ± 0.79
Frontal Lobe2.3 ± 0.73
Globus Pallidus2.85 ± 0.64
Hypothalamus2.62 ± 0.62
Insula2.36 ± 0.66
Limbic Lobe2.53 ± 0.76
Mesencephalon2.66 ± 0.81
Myelencephalon2.45 ± 0.69
Occipital Lobe2.56 ± 0.62
Parietal Lobe2.48 ± 0.7
Pontine Tegmentum2.51 ± 0.59
Striatum2.51 ± 0.64
Subthalamus2.52 ± 0.73
Temporal Lobe2.33 ± 0.63
Thalamus2.43 ± 0.55
White Matter2.71 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nup188CBCerebellum34.55
39.23
Nup188CTXCerebral cortex37.31
25.13
Nup188HIPHippocampal region39.93
53.56
Nup188HPFHippocampal formation34.13
38.01
Nup188HYHypothalamus8.44
5.89
Nup188LSXLateral septal complex17.16
11.31
Nup188MBMidbrain14.61
11.75
Nup188MYMedulla22.06
19.15
Nup188OLFOlfactory bulb43.11
32.64
Nup188PPons15.82
13.19
Nup188PALPallidum13.19
9.89
Nup188RHPRetrohippocampal region23.98
16.55
Nup188sAMYStriatum-like amygdalar nuclei14.61
8.91
Nup188STRStriatum20
13.38
Nup188STRdStriatum dorsal region18.63
12.59
Nup188STRvStriatum ventral region28.32
18.3
Nup188THThalamus23.97
17.31
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NU188_HUMAN_1705 17 1705 1721 GAPSSPATGVLPSPQGK PRIDE
PAp00003528 22 1251 1272 HSLALGSATEDKDSMETDDCSR 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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