AutismKB 2.0

Annotation Detail for NFAT5


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Basic Information Top
Gene Symbol:NFAT5 ( KIAA0827,NF-AT5,NFATL1,NFATZ,OREBP,TONEBP )
Gene Full Name: nuclear factor of activated T-cells 5, tonicity-responsive
Band: 16q22.1
Quick LinksEntrez ID:10725; OMIM: 604708; Uniprot ID:NFAT5_HUMAN; ENSEMBL ID: ENSG00000102908; HGNC ID: 7774
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
blastocyst2 / 6231932
fetus30 / 56401253
neonate3 / 3109796
infant0 / 236200 
juvenile2 / 5555635
adult157 / 193912180
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) tumor6 / 9417863
cervical tumor3 / 3436687
chondrosarcoma2 / 8282324
colorectal tumor9 / 11424678
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor7 / 26384526
glioma2 / 10688318
head and neck tumor15 / 136302110
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal241 / 336030771
ovarian tumor7 / 7668291
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites2 / 4001549
bladder1 / 2975733
blood3 / 12347824
bone2 / 7165527
bone marrow5 / 48801102
brain63 / 110098957
cervix3 / 4817162
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye14 / 21105466
heart8 / 8962689
intestine14 / 23447259
kidney16 / 21177775
larynx8 / 24145331
liver10 / 20774348
lung20 / 33697459
lymph0 / 442700 
lymph node15 / 91610163
mammary gland8 / 15327152
mouth3 / 6705244
muscle12 / 107715111
nerve0 / 157680 
ovary7 / 10205168
pancreas9 / 21481241
parathyroid3 / 20539146
pharynx4 / 4132896
pituitary gland3 / 16585180
placenta36 / 280825128
prostate8 / 18934542
salivary gland3 / 20155148
skin13 / 21057461
spleen2 / 5395237
stomach3 / 9661931
testis13 / 33044239
thymus6 / 8113173
thyroid2 / 4747342
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus19 / 23287881
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208003_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.3
Adipocyte3.4
AdrenalCortex3.55
Adrenalgland3
Amygdala3.6
Appendix3.55
AtrioventricularNode2.7
BDCA4+_DentriticCells3.9
Bonemarrow3.35
BronchialEpithelialCells3.4
CD105+_Endothelial3.6
CD14+_Monocytes3.7
CD19+_BCells(neg._sel.)3.7
CD33+_Myeloid4.45
CD34+4.45
CD4+_Tcells3.8
CD56+_NKCells5.8
CD71+_EarlyErythroid3.25
CD8+_Tcells3.4
CardiacMyocytes4.25
Caudatenucleus3.05
Cerebellum2.8
CerebellumPeduncles3.9
CiliaryGanglion2.4
CingulateCortex3.95
Colorectaladenocarcinoma3.5
DorsalRootGanglion2.75
FetalThyroid4.1
Fetalbrain3.45
Fetalliver2.9
Fetallung3.55
GlobusPallidus2.55
Heart4.3
Hypothalamus3.75
Kidney2.8
Leukemia_chronicMyelogenousK-5623.1
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)2.8
Liver4.45
Lung3.8
Lymphnode2.95
Lymphoma_burkitts(Daudi)4.4
Lymphoma_burkitts(Raji)4.75
MedullaOblongata3.7
OccipitalLobe3.1
OlfactoryBulb2.85
Ovary2.25
Pancreas2.75
PancreaticIslet3.65
ParietalLobe3.6
Pituitary4
Placenta8.15
Pons3.25
PrefrontalCortex4.35
Prostate6.3
Salivarygland2.7
SkeletalMuscle3.85
Skin2.65
SmoothMuscle3.8
Spinalcord3.65
SubthalamicNucleus3.15
SuperiorCervicalGanglion3.8
TemporalLobe3.15
Testis2.95
TestisGermCell2.9
TestisIntersitial2.9
TestisLeydigCell3.4
TestisSeminiferousTubule2.95
Thalamus3.45
Thymus5
Thyroid4.35
Tongue3.4
Tonsil3.3
Trachea3.25
TrigeminalGanglion3.4
Uterus6.05
UterusCorpus3.05
WholeBlood5.5
Wholebrain2.9
colon3.55
pineal_day11.6
pineal_night8.52
retina4.125
small_intestine3.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P3767
  • 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
Amygdala9.35 ± 0.15
Basal Forebrain8.94 ± 0.14
Basal Part of Pons8.89 ± 0.16
Cerebellar Cortex8.88 ± 0.17
Cerebellar Nuclei8.7 ± 0.24
Claustrum9.49 ± 0.19
Epithalamus8.89 ± 0.13
Frontal Lobe8.96 ± 0.23
Globus Pallidus8.54 ± 0.16
Hypothalamus8.93 ± 0.25
Insula9.05 ± 0.26
Limbic Lobe9.1 ± 0.24
Mesencephalon9.03 ± 0.2
Myelencephalon8.95 ± 0.26
Occipital Lobe9.35 ± 0.29
Parietal Lobe9.11 ± 0.18
Pontine Tegmentum9.01 ± 0.23
Striatum9.22 ± 0.2
Subthalamus8.75 ± 0.1
Temporal Lobe8.94 ± 0.22
Thalamus8.78 ± 0.19
White Matter8.66 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nfat5CBCerebellum35.52
44.85
Nfat5CTXCerebral cortex93.26
73.78
Nfat5HIPHippocampal region52.73
79
Nfat5HPFHippocampal formation63.05
75.04
Nfat5HYHypothalamus49.73
36.89
Nfat5LSXLateral septal complex69.45
50.6
Nfat5MBMidbrain53.93
46.47
Nfat5MYMedulla66.02
69.68
Nfat5OLFOlfactory bulb91.36
80.07
Nfat5PPons58.09
59.02
Nfat5PALPallidum56.87
48.37
Nfat5RHPRetrohippocampal region87.76
74.15
Nfat5sAMYStriatum-like amygdalar nuclei59.34
41.16
Nfat5STRStriatum74.68
54.27
Nfat5STRdStriatum dorsal region74.18
55
Nfat5STRvStriatum ventral region89.67
61.66
Nfat5THThalamus50
41.4
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


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