AutismKB 2.0

Annotation Detail for NFATC2IP


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Basic Information Top
Gene Symbol:NFATC2IP ( ESC2,FLJ14639,MGC126790,MGC138387,NIP45,RAD60 )
Gene Full Name: nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein
Band: 16p11.2
Quick LinksEntrez ID:84901; OMIM: NA; Uniprot ID:NF2IP_HUMAN; ENSEMBL ID: ENSG00000176953; HGNC ID: 25906
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 body7 / 7076198
blastocyst9 / 62319144
fetus31 / 56401254
neonate0 / 310970 
infant2 / 2362084
juvenile3 / 5555653
adult68 / 193912135
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor17 / 26384564
glioma3 / 10688328
head and neck tumor10 / 13630273
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor2 / 9635920
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal155 / 336030746
ovarian tumor3 / 7668239
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer3 / 10268029
retinoblastoma11 / 46356237
skin tumor6 / 12494948
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder3 / 29757100
blood7 / 12347856
bone3 / 7165541
bone marrow0 / 488010 
brain39 / 110098935
cervix1 / 4817120
connective tissue7 / 14925546
ear2 / 16212123
embryonic tissue21 / 21572297
esophagus0 / 202090 
eye27 / 211054127
heart1 / 8962611
intestine10 / 23447242
kidney3 / 21177714
larynx0 / 241450 
liver6 / 20774328
lung11 / 33697432
lymph0 / 442700 
lymph node6 / 9161065
mammary gland7 / 15327145
mouth7 / 67052104
muscle3 / 10771527
nerve1 / 1576863
ovary4 / 10205139
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta5 / 28082517
prostate11 / 18934558
salivary gland2 / 2015599
skin11 / 21057452
spleen6 / 53952111
stomach5 / 9661951
testis9 / 33044227
thymus5 / 8113161
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus20 / 23287885
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212808_at
Cell line Expression level Expression bar
721_B_lymphoblasts23.75
Adipocyte5.3
AdrenalCortex5.7
Adrenalgland4.5
Amygdala5.45
Appendix6.5
AtrioventricularNode4.45
BDCA4+_DentriticCells129.75
Bonemarrow5.5
BronchialEpithelialCells5.3
CD105+_Endothelial10.05
CD14+_Monocytes11
CD19+_BCells(neg._sel.)27.45
CD33+_Myeloid50.65
CD34+10.35
CD4+_Tcells122.65
CD56+_NKCells58.5
CD71+_EarlyErythroid15.4
CD8+_Tcells180.25
CardiacMyocytes7.55
Caudatenucleus4.7
Cerebellum5.85
CerebellumPeduncles9.85
CiliaryGanglion4.05
CingulateCortex5.5
Colorectaladenocarcinoma12.65
DorsalRootGanglion4.3
FetalThyroid5.15
Fetalbrain5.2
Fetalliver4.8
Fetallung4.5
GlobusPallidus4.15
Heart7.25
Hypothalamus5.9
Kidney4.3
Leukemia_chronicMyelogenousK-5624.85
Leukemia_promyelocytic-HL-604.8
Leukemialymphoblastic(MOLT-4)12.95
Liver7.2
Lung5.7
Lymphnode5.85
Lymphoma_burkitts(Daudi)6.75
Lymphoma_burkitts(Raji)7.6
MedullaOblongata4.85
OccipitalLobe4.6
OlfactoryBulb4.3
Ovary5.6
Pancreas4.65
PancreaticIslet5.75
ParietalLobe5.7
Pituitary6.2
Placenta6.7
Pons5.8
PrefrontalCortex6.55
Prostate6.25
Salivarygland4.25
SkeletalMuscle6.75
Skin4.55
SmoothMuscle6
Spinalcord5.6
SubthalamicNucleus4.8
SuperiorCervicalGanglion8.05
TemporalLobe4.9
Testis4.7
TestisGermCell7.4
TestisIntersitial4.45
TestisLeydigCell5.8
TestisSeminiferousTubule4.6
Thalamus5.35
Thymus13.45
Thyroid6.7
Tongue5.45
Tonsil5.5
Trachea4.45
TrigeminalGanglion7.55
Uterus5.6
UterusCorpus5.25
WholeBlood5.85
Wholebrain4.4
colon6.7
pineal_day11.42
pineal_night8.82
retina6.65
small_intestine6.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P330625
  • 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
Amygdala3.87 ± 0.55
Basal Forebrain3.36 ± 0.49
Basal Part of Pons3.73 ± 0.72
Cerebellar Cortex4.16 ± 0.35
Cerebellar Nuclei3.38 ± 0.23
Claustrum3.77 ± 1.05
Epithalamus3.43 ± 0.76
Frontal Lobe3.59 ± 0.65
Globus Pallidus3.37 ± 0.82
Hypothalamus3.01 ± 0.64
Insula3.48 ± 0.6
Limbic Lobe3.83 ± 0.67
Mesencephalon3.65 ± 0.67
Myelencephalon3.58 ± 0.66
Occipital Lobe3.76 ± 0.67
Parietal Lobe3.79 ± 0.62
Pontine Tegmentum3.73 ± 0.79
Striatum3.35 ± 0.67
Subthalamus3.65 ± 0.3
Temporal Lobe3.62 ± 0.66
Thalamus3.67 ± 0.63
White Matter3.25 ± 0.71
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nfatc2ipCBCerebellum6.23
9.19
Nfatc2ipCTXCerebral cortex2.7
1.86
Nfatc2ipHIPHippocampal region0.72
0.87
Nfatc2ipHPFHippocampal formation0.71
0.7
Nfatc2ipHYHypothalamus0.44
0.37
Nfatc2ipLSXLateral septal complex0.18
0.12
Nfatc2ipMBMidbrain0.88
0.88
Nfatc2ipMYMedulla7.43
7.82
Nfatc2ipOLFOlfactory bulb6.9
5.1
Nfatc2ipPPons0.67
0.73
Nfatc2ipPALPallidum0.09
0.04
Nfatc2ipRHPRetrohippocampal region0.6
0.46
Nfatc2ipsAMYStriatum-like amygdalar nuclei0.38
0.28
Nfatc2ipSTRStriatum0.56
0.63
Nfatc2ipSTRdStriatum dorsal region0.71
0.87
Nfatc2ipSTRvStriatum ventral region0.16
0.12
Nfatc2ipTHThalamus0.75
0.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011390 33 231 263 SCLSPKPPQGQEQQGQEDEVVLVEGPTLPETPR 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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