AutismKB 2.0

Annotation Detail for NOTCH3


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Basic Information Top
Gene Symbol:NOTCH3 ( CADASIL,CASIL )
Gene Full Name: notch 3
Band: 19p13.12
Quick LinksEntrez ID:4854; OMIM: 600276; Uniprot ID:NOTC3_HUMAN; ENSEMBL ID: ENSG00000074181; HGNC ID: 7883
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 body15 / 70761211
blastocyst8 / 62319128
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult99 / 193912151
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor8 / 11936967
germ cell tumor15 / 26384556
glioma11 / 106883102
head and neck tumor5 / 13630236
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal142 / 336030742
ovarian tumor13 / 76682169
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain21 / 110098919
cervix0 / 481710 
connective tissue2 / 14925513
ear2 / 16212123
embryonic tissue31 / 215722143
esophagus2 / 2020998
eye6 / 21105428
heart2 / 8962622
intestine14 / 23447259
kidney9 / 21177742
larynx0 / 241450 
liver1 / 2077434
lung18 / 33697453
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth4 / 6705259
muscle0 / 1077150 
nerve2 / 15768126
ovary15 / 102051146
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta27 / 28082596
prostate9 / 18934547
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach6 / 9661962
testis1 / 3304423
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203238_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.6
Adipocyte56.75
AdrenalCortex44.25
Adrenalgland35.55
Amygdala45.95
Appendix148.1
AtrioventricularNode37.95
BDCA4+_DentriticCells60.8
Bonemarrow21.35
BronchialEpithelialCells28.45
CD105+_Endothelial37.95
CD14+_Monocytes12.6
CD19+_BCells(neg._sel.)18.85
CD33+_Myeloid11.45
CD34+24.75
CD4+_Tcells24
CD56+_NKCells23.45
CD71+_EarlyErythroid19.4
CD8+_Tcells9.25
CardiacMyocytes57.6
Caudatenucleus57.2
Cerebellum32.15
CerebellumPeduncles44.95
CiliaryGanglion58.1
CingulateCortex45.1
Colorectaladenocarcinoma23.5
DorsalRootGanglion44.05
FetalThyroid183.9
Fetalbrain36.9
Fetalliver25.3
Fetallung191.5
GlobusPallidus31.75
Heart235.9
Hypothalamus59.05
Kidney39.35
Leukemia_chronicMyelogenousK-56221.85
Leukemia_promyelocytic-HL-6024.85
Leukemialymphoblastic(MOLT-4)31
Liver46.45
Lung265.05
Lymphnode64.65
Lymphoma_burkitts(Daudi)30.3
Lymphoma_burkitts(Raji)27.55
MedullaOblongata37.25
OccipitalLobe56.3
OlfactoryBulb82.2
Ovary47.4
Pancreas50.5
PancreaticIslet39
ParietalLobe42.7
Pituitary44.65
Placenta458.45
Pons38.85
PrefrontalCortex118.9
Prostate44.95
Salivarygland59.75
SkeletalMuscle49
Skin98.55
SmoothMuscle61.25
Spinalcord73.45
SubthalamicNucleus34.5
SuperiorCervicalGanglion47.85
TemporalLobe44.75
Testis32.75
TestisGermCell52.35
TestisIntersitial36.1
TestisLeydigCell44.45
TestisSeminiferousTubule35.45
Thalamus58.85
Thymus257.45
Thyroid82.6
Tongue122.25
Tonsil66
Trachea58.65
TrigeminalGanglion44.7
Uterus161.4
UterusCorpus34.45
WholeBlood11.15
Wholebrain33.1
colon39.35
pineal_day41
pineal_night38.52
retina93.45
small_intestine41.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P399606
  • 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
Amygdala2.41 ± 1.06
Basal Forebrain2.07 ± 0.37
Basal Part of Pons1.75 ± 0.66
Cerebellar Cortex1.97 ± 0.81
Cerebellar Nuclei2.23 ± 0.69
Claustrum2.81 ± 0.76
Epithalamus1.75 ± 1.02
Frontal Lobe2.03 ± 0.84
Globus Pallidus2.67 ± 0.62
Hypothalamus1.85 ± 0.63
Insula2.01 ± 0.43
Limbic Lobe2.21 ± 0.74
Mesencephalon2.3 ± 0.8
Myelencephalon2.25 ± 0.69
Occipital Lobe2.16 ± 0.95
Parietal Lobe2.29 ± 0.78
Pontine Tegmentum2.16 ± 0.75
Striatum2.18 ± 0.68
Subthalamus1.93 ± 0.29
Temporal Lobe2.09 ± 0.75
Thalamus2.2 ± 0.72
White Matter2.13 ± 0.64
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Notch3CBCerebellum9.73
9.09
Notch3CTXCerebral cortex2.96
2.38
Notch3HIPHippocampal region3.38
3.14
Notch3HPFHippocampal formation3.58
3.03
Notch3HYHypothalamus2.23
1.63
Notch3LSXLateral septal complex1.79
1.15
Notch3MBMidbrain3.99
4.18
Notch3MYMedulla6.59
5
Notch3OLFOlfactory bulb7.14
4.7
Notch3PPons5.6
4.11
Notch3PALPallidum2.4
1.64
Notch3RHPRetrohippocampal region3.89
2.81
Notch3sAMYStriatum-like amygdalar nuclei3.19
2.01
Notch3STRStriatum2.62
1.62
Notch3STRdStriatum dorsal region2.63
1.65
Notch3STRvStriatum ventral region2.76
1.52
Notch3THThalamus2.74
1.97
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01369225 11 1221 1231 DCLQDPGGGFR 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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