AutismKB 2.0

Annotation Detail for NFATC1


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Basic Information Top
Gene Symbol:NFATC1 ( MGC138448,NF-ATC,NFAT2,NFATc )
Gene Full Name: nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
Band: 18q23
Quick LinksEntrez ID:4772; OMIM: 600489; Uniprot ID:NFAC1_HUMAN; ENSEMBL ID: ENSG00000131196; HGNC ID: 7775
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
blastocyst2 / 6231932
fetus36 / 56401263
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult42 / 193912121
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) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma6 / 7175583
non-neoplasia0 / 972500 
normal117 / 336030734
ovarian tumor6 / 7668278
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain7 / 11009896
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye3 / 21105414
heart12 / 89626133
intestine3 / 23447212
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung12 / 33697435
lymph0 / 442700 
lymph node20 / 91610218
mammary gland5 / 15327132
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary8 / 10205178
pancreas3 / 21481213
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate6 / 18934531
salivary gland1 / 2015549
skin0 / 2105740 
spleen4 / 5395274
stomach1 / 9661910
testis4 / 33044212
thymus2 / 8113124
thyroid0 / 474730 
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211105_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.15
Adipocyte4.15
AdrenalCortex5.4
Adrenalgland3.5
Amygdala4.35
Appendix4.2
AtrioventricularNode3.2
BDCA4+_DentriticCells21.5
Bonemarrow4.1
BronchialEpithelialCells4.05
CD105+_Endothelial4.25
CD14+_Monocytes25.3
CD19+_BCells(neg._sel.)224.05
CD33+_Myeloid11.65
CD34+33.35
CD4+_Tcells44.2
CD56+_NKCells40.7
CD71+_EarlyErythroid3.9
CD8+_Tcells69
CardiacMyocytes5.3
Caudatenucleus3.8
Cerebellum3.4
CerebellumPeduncles4.7
CiliaryGanglion2.9
CingulateCortex4.3
Colorectaladenocarcinoma4.2
DorsalRootGanglion3.2
FetalThyroid4.05
Fetalbrain4.2
Fetalliver3.6
Fetallung3.5
GlobusPallidus3.05
Heart5.4
Hypothalamus4.65
Kidney3.4
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-604.5
Leukemialymphoblastic(MOLT-4)3.9
Liver5.45
Lung7.95
Lymphnode5.3
Lymphoma_burkitts(Daudi)6.75
Lymphoma_burkitts(Raji)6.15
MedullaOblongata3.85
OccipitalLobe3.8
OlfactoryBulb3.25
Ovary2.75
Pancreas3.35
PancreaticIslet4.5
ParietalLobe4.35
Pituitary4.9
Placenta4.35
Pons4
PrefrontalCortex5.15
Prostate5
Salivarygland3.4
SkeletalMuscle5.05
Skin3.25
SmoothMuscle4.7
Spinalcord4.5
SubthalamicNucleus3.8
SuperiorCervicalGanglion4.75
TemporalLobe3.75
Testis4.85
TestisGermCell4.35
TestisIntersitial3.55
TestisLeydigCell4.2
TestisSeminiferousTubule3.6
Thalamus4.25
Thymus3.45
Thyroid5.35
Tongue4.2
Tonsil4.75
Trachea3.6
TrigeminalGanglion4.15
Uterus4
UterusCorpus3.75
WholeBlood8.95
Wholebrain3.55
colon4.25
pineal_day5.08
pineal_night5.04
retina5.15
small_intestine4.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9465_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
Amygdala3 ± 1.2
Basal Forebrain2.74 ± 0.48
Basal Part of Pons2.19 ± 0.66
Cerebellar Cortex2.49 ± 0.86
Cerebellar Nuclei2.81 ± 0.72
Claustrum3.4 ± 0.95
Epithalamus3 ± 0.83
Frontal Lobe2.44 ± 0.79
Globus Pallidus3.34 ± 0.71
Hypothalamus2.75 ± 0.68
Insula2.77 ± 0.64
Limbic Lobe2.44 ± 0.69
Mesencephalon2.8 ± 0.89
Myelencephalon2.68 ± 0.77
Occipital Lobe2.59 ± 0.76
Parietal Lobe2.7 ± 0.84
Pontine Tegmentum2.75 ± 0.71
Striatum2.79 ± 0.65
Subthalamus2.38 ± 0.86
Temporal Lobe2.58 ± 0.78
Thalamus2.7 ± 0.68
White Matter4.25 ± 1.76
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nfatc1CBCerebellum32.43
40.3
Nfatc1CTXCerebral cortex67.96
60.88
Nfatc1HIPHippocampal region29.12
35.83
Nfatc1HPFHippocampal formation28.39
30.09
Nfatc1HYHypothalamus55.28
47.32
Nfatc1LSXLateral septal complex50.78
39.45
Nfatc1MBMidbrain33.94
33.56
Nfatc1MYMedulla52.28
64.94
Nfatc1OLFOlfactory bulb100
100
Nfatc1PPons46.11
55.62
Nfatc1PALPallidum49.47
47.87
Nfatc1RHPRetrohippocampal region26.43
21.02
Nfatc1sAMYStriatum-like amygdalar nuclei48.28
38.87
Nfatc1STRStriatum37.65
29.94
Nfatc1STRdStriatum dorsal region23.49
18.55
Nfatc1STRvStriatum ventral region67.93
51.36
Nfatc1THThalamus70.53
72.9
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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