AutismKB 2.0

Annotation Detail for NOTCH2


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Basic Information Top
Gene Symbol:NOTCH2 ( AGS2,hN2 )
Gene Full Name: notch 2
Band: 1p12
Quick LinksEntrez ID:4853; OMIM: 600275; Uniprot ID:NOTC2_HUMAN; ENSEMBL ID: ENSG00000134250; HGNC ID: 7882
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 body13 / 70761183
blastocyst5 / 6231980
fetus39 / 56401269
neonate2 / 3109764
infant0 / 236200 
juvenile2 / 5555635
adult250 / 1939121128
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) tumor37 / 94178392
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor12 / 119369100
germ cell tumor26 / 26384598
glioma5 / 10688346
head and neck tumor11 / 13630280
kidney tumor7 / 68959101
leukemia29 / 95842302
liver tumor6 / 9635962
lung tumor13 / 103127126
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal282 / 336030783
ovarian tumor19 / 76682247
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor14 / 124949112
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites4 / 4001599
bladder4 / 29757134
blood29 / 123478234
bone7 / 7165597
bone marrow1 / 4880120
brain58 / 110098952
cervix4 / 4817183
connective tissue12 / 14925580
ear4 / 16212246
embryonic tissue29 / 215722134
esophagus1 / 2020949
eye6 / 21105428
heart8 / 8962689
intestine24 / 234472102
kidney20 / 21177794
larynx3 / 24145124
liver10 / 20774348
lung45 / 336974133
lymph1 / 4427022
lymph node3 / 9161032
mammary gland42 / 153271274
mouth2 / 6705229
muscle8 / 10771574
nerve1 / 1576863
ovary10 / 10205197
pancreas7 / 21481232
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta22 / 28082578
prostate11 / 18934558
salivary gland0 / 201550 
skin30 / 210574142
spleen2 / 5395237
stomach3 / 9661931
testis52 / 330442157
thymus3 / 8113136
thyroid8 / 47473168
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus19 / 23287881
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202445_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.45
Adipocyte5.9
AdrenalCortex6.85
Adrenalgland4.9
Amygdala5.9
Appendix6.6
AtrioventricularNode5.6
BDCA4+_DentriticCells6.4
Bonemarrow5.9
BronchialEpithelialCells5.55
CD105+_Endothelial5.55
CD14+_Monocytes6.2
CD19+_BCells(neg._sel.)5.95
CD33+_Myeloid8.25
CD34+6.85
CD4+_Tcells5.85
CD56+_NKCells6.6
CD71+_EarlyErythroid5.3
CD8+_Tcells5.4
CardiacMyocytes7.85
Caudatenucleus5.1
Cerebellum4.6
CerebellumPeduncles6.6
CiliaryGanglion4.4
CingulateCortex6
Colorectaladenocarcinoma5.65
DorsalRootGanglion4.55
FetalThyroid5.5
Fetalbrain5.5
Fetalliver5
Fetallung4.45
GlobusPallidus4.25
Heart7.75
Hypothalamus6.2
Kidney4.8
Leukemia_chronicMyelogenousK-5625.1
Leukemia_promyelocytic-HL-605.05
Leukemialymphoblastic(MOLT-4)4.35
Liver7.9
Lung6.1
Lymphnode4.65
Lymphoma_burkitts(Daudi)7.3
Lymphoma_burkitts(Raji)8.25
MedullaOblongata5.3
OccipitalLobe5
OlfactoryBulb4.4
Ovary4.05
Pancreas4.6
PancreaticIslet6.05
ParietalLobe6.2
Pituitary6.65
Placenta5.8
Pons5.45
PrefrontalCortex7.1
Prostate6.6
Salivarygland4.65
SkeletalMuscle7.45
Skin4.65
SmoothMuscle6.5
Spinalcord6
SubthalamicNucleus5.45
SuperiorCervicalGanglion7.6
TemporalLobe5.25
Testis4.8
TestisGermCell4.8
TestisIntersitial4.75
TestisLeydigCell5.7
TestisSeminiferousTubule4.9
Thalamus5.8
Thymus4.35
Thyroid7.05
Tongue5.85
Tonsil5.55
Trachea4.7
TrigeminalGanglion6
Uterus4.55
UterusCorpus5.15
WholeBlood8.35
Wholebrain4.7
colon5.75
pineal_day6.64
pineal_night6.74
retina6.85
small_intestine5.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1430_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
Amygdala8.36 ± 0.38
Basal Forebrain8.36 ± 0.28
Basal Part of Pons7.39 ± 0.24
Cerebellar Cortex7.69 ± 0.22
Cerebellar Nuclei8.14 ± 0.45
Claustrum8.46 ± 0.71
Epithalamus8.38 ± 0.49
Frontal Lobe7.9 ± 0.4
Globus Pallidus9.14 ± 0.31
Hypothalamus7.94 ± 0.66
Insula7.73 ± 0.44
Limbic Lobe7.99 ± 0.53
Mesencephalon8.08 ± 0.46
Myelencephalon8.13 ± 0.52
Occipital Lobe8.45 ± 0.45
Parietal Lobe8.09 ± 0.4
Pontine Tegmentum8.24 ± 0.41
Striatum8.48 ± 0.5
Subthalamus7.56 ± 0.59
Temporal Lobe7.95 ± 0.36
Thalamus8.28 ± 0.43
White Matter9.18 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Notch2CBCerebellum10.55
14.61
Notch2CTXCerebral cortex3.26
2.95
Notch2HIPHippocampal region6.5
8.17
Notch2HPFHippocampal formation5.57
6.57
Notch2HYHypothalamus0.83
1.7
Notch2LSXLateral septal complex3
3.68
Notch2MBMidbrain3.2
4.67
Notch2MYMedulla7.63
10.58
Notch2OLFOlfactory bulb21.14
19.14
Notch2PPons4.51
5.93
Notch2PALPallidum0.51
0.51
Notch2RHPRetrohippocampal region3.96
4.32
Notch2sAMYStriatum-like amygdalar nuclei0.87
1.66
Notch2STRStriatum2.03
2.36
Notch2STRdStriatum dorsal region1.37
1.59
Notch2STRvStriatum ventral region2.83
2.68
Notch2THThalamus1.62
1.94
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00041122 13 1353 1365 KGEQCVHTASGPR 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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