AutismKB 2.0

Annotation Detail for NPAT


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Basic Information Top
Gene Symbol:NPAT ( E14,p220 )
Gene Full Name: nuclear protein, ataxia-telangiectasia locus
Band: 11q22.3
Quick LinksEntrez ID:4863; OMIM: 601448; Uniprot ID:NPAT_HUMAN; ENSEMBL ID: ENSG00000149308; HGNC ID: 7896
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
blastocyst4 / 6231964
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult33 / 193912117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor10 / 26384537
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal76 / 336030722
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood4 / 12347832
bone0 / 716550 
bone marrow1 / 4880120
brain25 / 110098922
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine4 / 23447217
kidney1 / 2117774
larynx0 / 241450 
liver2 / 2077439
lung4 / 33697411
lymph1 / 4427022
lymph node7 / 9161076
mammary gland3 / 15327119
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta7 / 28082524
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen2 / 5395237
stomach1 / 9661910
testis9 / 33044227
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211584_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.9
Adipocyte12.4
AdrenalCortex13.85
Adrenalgland11.85
Amygdala12
Appendix17.2
AtrioventricularNode10.55
BDCA4+_DentriticCells11.45
Bonemarrow13.3
BronchialEpithelialCells11.95
CD105+_Endothelial11.7
CD14+_Monocytes13.2
CD19+_BCells(neg._sel.)15.55
CD33+_Myeloid14
CD34+11.65
CD4+_Tcells17.95
CD56+_NKCells12.35
CD71+_EarlyErythroid11.7
CD8+_Tcells24.75
CardiacMyocytes16.25
Caudatenucleus11.35
Cerebellum10.2
CerebellumPeduncles15.75
CiliaryGanglion11.05
CingulateCortex16.95
Colorectaladenocarcinoma12.3
DorsalRootGanglion10.05
FetalThyroid12.8
Fetalbrain12
Fetalliver11
Fetallung9.4
GlobusPallidus9.15
Heart17.1
Hypothalamus13.85
Kidney13.1
Leukemia_chronicMyelogenousK-56211.3
Leukemia_promyelocytic-HL-6010.9
Leukemialymphoblastic(MOLT-4)9.9
Liver17.95
Lung13.1
Lymphnode10.2
Lymphoma_burkitts(Daudi)16.05
Lymphoma_burkitts(Raji)17.55
MedullaOblongata12.35
OccipitalLobe11.25
OlfactoryBulb9.75
Ovary8.7
Pancreas10.05
PancreaticIslet13.4
ParietalLobe16.15
Pituitary15.65
Placenta12.65
Pons14.55
PrefrontalCortex15.8
Prostate13.2
Salivarygland10.35
SkeletalMuscle25.6
Skin12
SmoothMuscle14.2
Spinalcord13.55
SubthalamicNucleus12.25
SuperiorCervicalGanglion26.8
TemporalLobe13.1
Testis10.75
TestisGermCell10.35
TestisIntersitial10.55
TestisLeydigCell12.95
TestisSeminiferousTubule10.9
Thalamus12.8
Thymus9
Thyroid15
Tongue14.3
Tonsil12.7
Trachea10.55
TrigeminalGanglion17.85
Uterus8.6
UterusCorpus16.8
WholeBlood12.8
Wholebrain8.95
colon12.6
pineal_day12.12
pineal_night12.3
retina13.8
small_intestine12
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P273823
  • 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
Amygdala7.5 ± 0.35
Basal Forebrain7.33 ± 0.09
Basal Part of Pons7.15 ± 0.18
Cerebellar Cortex7.5 ± 0.24
Cerebellar Nuclei7.24 ± 0.23
Claustrum7.71 ± 0.34
Epithalamus7.49 ± 0.16
Frontal Lobe7.21 ± 0.23
Globus Pallidus7.44 ± 0.14
Hypothalamus7.43 ± 0.15
Insula7.23 ± 0.17
Limbic Lobe7.37 ± 0.31
Mesencephalon7.38 ± 0.21
Myelencephalon7.37 ± 0.27
Occipital Lobe7.68 ± 0.35
Parietal Lobe7.34 ± 0.26
Pontine Tegmentum7.35 ± 0.35
Striatum7.43 ± 0.27
Subthalamus7.19 ± 0.19
Temporal Lobe7.25 ± 0.25
Thalamus7.37 ± 0.19
White Matter7.76 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NpatCBCerebellum3.26
3.15
NpatCTXCerebral cortex11.57
7.51
NpatHIPHippocampal region8.52
7.36
NpatHPFHippocampal formation8.93
6.95
NpatHYHypothalamus0.99
0.7
NpatLSXLateral septal complex0.67
0.47
NpatMBMidbrain2.36
2.02
NpatMYMedulla7.04
7.67
NpatOLFOlfactory bulb9.37
7.51
NpatPPons3.65
3.63
NpatPALPallidum3.85
3.48
NpatRHPRetrohippocampal region9.62
6.33
NpatsAMYStriatum-like amygdalar nuclei21.28
14.93
NpatSTRStriatum7.84
5.55
NpatSTRdStriatum dorsal region8.43
6.12
NpatSTRvStriatum ventral region3.27
1.99
NpatTHThalamus3.23
2.33
Peptide Top

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