AutismKB 2.0

Annotation Detail for NUP214


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Basic Information Top
Gene Symbol:NUP214 ( CAIN,CAN,D9S46E,MGC104525,N214 )
Gene Full Name: nucleoporin 214kDa
Band: 9q34.13
Quick LinksEntrez ID:8021; OMIM: 114350; Uniprot ID:NU214_HUMAN; ENSEMBL ID: ENSG00000126883; HGNC ID: 8064
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 body4 / 7076156
blastocyst8 / 62319128
fetus40 / 56401270
neonate2 / 3109764
infant0 / 236200 
juvenile4 / 5555671
adult207 / 1939121106
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor14 / 94178148
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor20 / 26384575
glioma12 / 106883112
head and neck tumor8 / 13630258
kidney tumor5 / 6895972
leukemia9 / 9584293
liver tumor1 / 9635910
lung tumor8 / 10312777
lymphoma5 / 7175569
non-neoplasia4 / 9725041
normal284 / 336030784
ovarian tumor4 / 7668252
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer10 / 10268097
retinoblastoma2 / 4635643
skin tumor8 / 12494964
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder2 / 2975767
blood4 / 12347832
bone3 / 7165541
bone marrow6 / 48801122
brain52 / 110098947
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye19 / 21105490
heart1 / 8962611
intestine20 / 23447285
kidney12 / 21177756
larynx0 / 241450 
liver18 / 20774386
lung23 / 33697468
lymph4 / 4427090
lymph node9 / 9161098
mammary gland22 / 153271143
mouth1 / 6705214
muscle9 / 10771583
nerve4 / 15768253
ovary6 / 10205158
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx8 / 41328193
pituitary gland3 / 16585180
placenta16 / 28082556
prostate63 / 189345332
salivary gland1 / 2015549
skin8 / 21057437
spleen4 / 5395274
stomach8 / 9661982
testis97 / 330442293
thymus7 / 8113186
thyroid3 / 4747363
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord2 / 13680146
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202155_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.15
Adipocyte2.6
AdrenalCortex3.05
Adrenalgland2.45
Amygdala3.35
Appendix2.9
AtrioventricularNode2.15
BDCA4+_DentriticCells33.35
Bonemarrow13.15
BronchialEpithelialCells3.2
CD105+_Endothelial11.4
CD14+_Monocytes350.95
CD19+_BCells(neg._sel.)6.5
CD33+_Myeloid224.05
CD34+32.45
CD4+_Tcells7.55
CD56+_NKCells18.45
CD71+_EarlyErythroid3.95
CD8+_Tcells15
CardiacMyocytes3.75
Caudatenucleus2.7
Cerebellum2.5
CerebellumPeduncles2.55
CiliaryGanglion2.1
CingulateCortex2.95
Colorectaladenocarcinoma8.6
DorsalRootGanglion2.2
FetalThyroid3
Fetalbrain3.1
Fetalliver2.65
Fetallung2.6
GlobusPallidus2.2
Heart9.25
Hypothalamus3.4
Kidney2
Leukemia_chronicMyelogenousK-56260.65
Leukemia_promyelocytic-HL-602.55
Leukemialymphoblastic(MOLT-4)3.15
Liver3.95
Lung3.9
Lymphnode2.6
Lymphoma_burkitts(Daudi)3.9
Lymphoma_burkitts(Raji)3.65
MedullaOblongata2.8
OccipitalLobe2.75
OlfactoryBulb2.5
Ovary2
Pancreas2.4
PancreaticIslet3.3
ParietalLobe2.9
Pituitary3.55
Placenta4.25
Pons2.8
PrefrontalCortex4.8
Prostate4.6
Salivarygland2.45
SkeletalMuscle2.95
Skin2.35
SmoothMuscle3.3
Spinalcord3.3
SubthalamicNucleus2.6
SuperiorCervicalGanglion2.9
TemporalLobe2.7
Testis72.1
TestisGermCell83.85
TestisIntersitial143
TestisLeydigCell68.8
TestisSeminiferousTubule69.45
Thalamus3.15
Thymus27.95
Thyroid4.05
Tongue2.95
Tonsil3
Trachea2.4
TrigeminalGanglion2.95
Uterus3.25
UterusCorpus2.7
WholeBlood180.6
Wholebrain2.7
colon3.1
pineal_day6.32
pineal_night6.24
retina7.725
small_intestine3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12378_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
Amygdala4.83 ± 0.43
Basal Forebrain4.99 ± 0.18
Basal Part of Pons4.85 ± 0.32
Cerebellar Cortex5.13 ± 0.4
Cerebellar Nuclei4.9 ± 0.55
Claustrum4.71 ± 0.85
Epithalamus4.77 ± 0.57
Frontal Lobe4.96 ± 0.38
Globus Pallidus4.84 ± 0.35
Hypothalamus4.69 ± 0.15
Insula4.85 ± 0.4
Limbic Lobe4.87 ± 0.42
Mesencephalon4.87 ± 0.5
Myelencephalon4.88 ± 0.48
Occipital Lobe4.97 ± 0.44
Parietal Lobe4.89 ± 0.42
Pontine Tegmentum4.98 ± 0.36
Striatum5.01 ± 0.36
Subthalamus5 ± 0.33
Temporal Lobe4.93 ± 0.36
Thalamus5.02 ± 0.5
White Matter6.15 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nup214CBCerebellum32.07
34.51
Nup214CTXCerebral cortex38.16
25.57
Nup214HIPHippocampal region29.61
34.55
Nup214HPFHippocampal formation30.74
29.8
Nup214HYHypothalamus13.45
10.38
Nup214LSXLateral septal complex12.55
8.12
Nup214MBMidbrain20.69
17.08
Nup214MYMedulla26.69
24.9
Nup214OLFOlfactory bulb42.94
34.01
Nup214PPons24.07
22.3
Nup214PALPallidum17.63
14.2
Nup214RHPRetrohippocampal region32.77
23.67
Nup214sAMYStriatum-like amygdalar nuclei18.12
11.94
Nup214STRStriatum23.65
16.61
Nup214STRdStriatum dorsal region22.11
15.99
Nup214STRvStriatum ventral region33.81
21.88
Nup214THThalamus29.28
22.72
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00007950 14 1001 1014 TSCKDDEAVVQAPR 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