AutismKB 2.0

Annotation Detail for NIPA2


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Basic Information Top
Gene Symbol:NIPA2 ( MGC5466 )
Gene Full Name: non imprinted in Prader-Willi/Angelman syndrome 2
Band: 15q11.2
Quick LinksEntrez ID:81614; OMIM: 608146; Uniprot ID:NIPA2_HUMAN; ENSEMBL ID: ENSG00000140157; HGNC ID: 17044
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
blastocyst10 / 62319160
fetus54 / 56401295
neonate2 / 3109764
infant1 / 2362042
juvenile4 / 5555671
adult125 / 193912164
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor5 / 12794390
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor4 / 34366116
chondrosarcoma12 / 82823144
colorectal tumor8 / 11424670
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor25 / 26384594
glioma8 / 10688374
head and neck tumor10 / 13630273
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor7 / 9635972
lung tumor5 / 10312748
lymphoma4 / 7175555
non-neoplasia10 / 97250102
normal272 / 336030780
ovarian tumor2 / 7668226
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer9 / 10268087
retinoblastoma8 / 46356172
skin tumor14 / 124949112
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland8 / 33197240
ascites3 / 4001574
bladder3 / 29757100
blood15 / 123478121
bone6 / 7165583
bone marrow2 / 4880140
brain86 / 110098978
cervix4 / 4817183
connective tissue12 / 14925580
ear4 / 16212246
embryonic tissue22 / 215722101
esophagus2 / 2020998
eye19 / 21105490
heart6 / 8962666
intestine26 / 234472110
kidney11 / 21177751
larynx0 / 241450 
liver8 / 20774338
lung26 / 33697477
lymph1 / 4427022
lymph node8 / 9161087
mammary gland10 / 15327165
mouth9 / 67052134
muscle2 / 10771518
nerve0 / 157680 
ovary3 / 10205129
pancreas34 / 214812158
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta12 / 28082542
prostate19 / 189345100
salivary gland0 / 201550 
skin24 / 210574113
spleen7 / 53952129
stomach7 / 9661972
testis22 / 33044266
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus14 / 23287860
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212133_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.8
Adipocyte6.65
AdrenalCortex6.6
Adrenalgland5.15
Amygdala6.25
Appendix12.25
AtrioventricularNode5.1
BDCA4+_DentriticCells16.4
Bonemarrow6.25
BronchialEpithelialCells5.95
CD105+_Endothelial10.5
CD14+_Monocytes6.45
CD19+_BCells(neg._sel.)9.1
CD33+_Myeloid7.55
CD34+9.95
CD4+_Tcells6.5
CD56+_NKCells10.55
CD71+_EarlyErythroid5.6
CD8+_Tcells5.8
CardiacMyocytes8.3
Caudatenucleus5.45
Cerebellum4.85
CerebellumPeduncles6.75
CiliaryGanglion4.45
CingulateCortex6.05
Colorectaladenocarcinoma6.05
DorsalRootGanglion4.9
FetalThyroid5.9
Fetalbrain5.75
Fetalliver5.3
Fetallung5.05
GlobusPallidus4.35
Heart8.15
Hypothalamus6.15
Kidney4.95
Leukemia_chronicMyelogenousK-5625.5
Leukemia_promyelocytic-HL-606.15
Leukemialymphoblastic(MOLT-4)4.7
Liver9.5
Lung6.75
Lymphnode5.1
Lymphoma_burkitts(Daudi)9.9
Lymphoma_burkitts(Raji)9.5
MedullaOblongata5.3
OccipitalLobe5.15
OlfactoryBulb4.6
Ovary4
Pancreas4.85
PancreaticIslet6.45
ParietalLobe6.35
Pituitary6.95
Placenta6.25
Pons5.8
PrefrontalCortex7
Prostate7.9
Salivarygland4.85
SkeletalMuscle7.25
Skin4.85
SmoothMuscle6.85
Spinalcord6.25
SubthalamicNucleus5.55
SuperiorCervicalGanglion7.65
TemporalLobe5.5
Testis5.6
TestisGermCell4.75
TestisIntersitial4.9
TestisLeydigCell5.8
TestisSeminiferousTubule5.15
Thalamus5.95
Thymus4.6
Thyroid7.7
Tongue6
Tonsil5.9
Trachea4.95
TrigeminalGanglion6.35
Uterus4.9
UterusCorpus5.6
WholeBlood6.7
Wholebrain5.05
colon6.15
pineal_day7.24
pineal_night7.18
retina7.175
small_intestine6.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1443_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
Amygdala3.47 ± 0.88
Basal Forebrain2.96 ± 0.3
Basal Part of Pons2.74 ± 0.28
Cerebellar Cortex2.94 ± 0.63
Cerebellar Nuclei3.27 ± 0.68
Claustrum3.32 ± 0.63
Epithalamus3.02 ± 0.56
Frontal Lobe3.2 ± 0.65
Globus Pallidus2.81 ± 0.51
Hypothalamus3.01 ± 0.68
Insula3.2 ± 0.67
Limbic Lobe3.09 ± 0.6
Mesencephalon3.14 ± 0.67
Myelencephalon3.09 ± 0.62
Occipital Lobe2.94 ± 0.72
Parietal Lobe3.26 ± 0.59
Pontine Tegmentum3.31 ± 0.68
Striatum2.88 ± 0.76
Subthalamus3.2 ± 0.73
Temporal Lobe3.12 ± 0.67
Thalamus3 ± 0.6
White Matter2.82 ± 0.76
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nipa2CBCerebellum3.65
4.55
Nipa2CTXCerebral cortex6.25
5.22
Nipa2HIPHippocampal region3.06
3.19
Nipa2HPFHippocampal formation2.32
2.23
Nipa2HYHypothalamus0.25
0.19
Nipa2LSXLateral septal complex1.81
1.13
Nipa2MBMidbrain1.69
1.87
Nipa2MYMedulla3.22
4.24
Nipa2OLFOlfactory bulb6.08
4.74
Nipa2PPons2.06
2.83
Nipa2PALPallidum0.57
0.5
Nipa2RHPRetrohippocampal region0.84
0.69
Nipa2sAMYStriatum-like amygdalar nuclei0.77
0.79
Nipa2STRStriatum1.53
1.08
Nipa2STRdStriatum dorsal region0.57
0.47
Nipa2STRvStriatum ventral region5.43
3.25
Nipa2THThalamus0.94
0.77
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