AutismKB 2.0

Annotation Detail for NOTCH1


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Basic Information Top
Gene Symbol:NOTCH1 ( TAN1,hN1 )
Gene Full Name: notch 1
Band: 9q34.3
Quick LinksEntrez ID:4851; OMIM: 190198; Uniprot ID:NOTC1_HUMAN; ENSEMBL ID: ENSG00000148400; HGNC ID: 7881
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 body3 / 7076142
blastocyst7 / 62319112
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult65 / 193912133
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 tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor5 / 11936941
germ cell tumor4 / 26384515
glioma23 / 106883215
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia9 / 9584293
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal132 / 336030739
ovarian tumor6 / 7668278
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood7 / 12347856
bone1 / 7165513
bone marrow1 / 4880120
brain33 / 110098929
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus2 / 2020998
eye7 / 21105433
heart9 / 89626100
intestine13 / 23447255
kidney4 / 21177718
larynx0 / 241450 
liver2 / 2077439
lung12 / 33697435
lymph0 / 442700 
lymph node24 / 91610261
mammary gland3 / 15327119
mouth3 / 6705244
muscle1 / 1077159
nerve0 / 157680 
ovary4 / 10205139
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate3 / 18934515
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach6 / 9661962
testis2 / 3304426
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus8 / 23287834
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218902_at
Cell line Expression level Expression bar
721_B_lymphoblasts18.3
Adipocyte15.75
AdrenalCortex25.55
Adrenalgland14.75
Amygdala19.3
Appendix20.65
AtrioventricularNode15.7
BDCA4+_DentriticCells20.5
Bonemarrow17.15
BronchialEpithelialCells42.2
CD105+_Endothelial15.5
CD14+_Monocytes74.6
CD19+_BCells(neg._sel.)16.6
CD33+_Myeloid49.1
CD34+51.5
CD4+_Tcells30.2
CD56+_NKCells81.45
CD71+_EarlyErythroid13.4
CD8+_Tcells33.2
CardiacMyocytes25.4
Caudatenucleus14.75
Cerebellum13.5
CerebellumPeduncles23.5
CiliaryGanglion15.4
CingulateCortex18.55
Colorectaladenocarcinoma18.05
DorsalRootGanglion13.65
FetalThyroid20.8
Fetalbrain17.6
Fetalliver11.05
Fetallung14.2
GlobusPallidus13
Heart23.1
Hypothalamus23.5
Kidney14.65
Leukemia_chronicMyelogenousK-56215.45
Leukemia_promyelocytic-HL-6012.2
Leukemialymphoblastic(MOLT-4)249.85
Liver23.9
Lung117.8
Lymphnode16.85
Lymphoma_burkitts(Daudi)25.8
Lymphoma_burkitts(Raji)16.3
MedullaOblongata18.5
OccipitalLobe15.85
OlfactoryBulb15.9
Ovary12.05
Pancreas13.55
PancreaticIslet17.35
ParietalLobe24.75
Pituitary19
Placenta15.5
Pons22.35
PrefrontalCortex24
Prostate94.5
Salivarygland13.9
SkeletalMuscle26.85
Skin13.6
SmoothMuscle18.45
Spinalcord20.35
SubthalamicNucleus16.8
SuperiorCervicalGanglion24.25
TemporalLobe15.85
Testis13.1
TestisGermCell11.65
TestisIntersitial13.65
TestisLeydigCell17.2
TestisSeminiferousTubule14.05
Thalamus18.5
Thymus87
Thyroid19.9
Tongue20.3
Tonsil20.4
Trachea13.45
TrigeminalGanglion22.2
Uterus27.35
UterusCorpus15.85
WholeBlood188.3
Wholebrain13.95
colon23.8
pineal_day18.04
pineal_night17.58
retina27.075
small_intestine17.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16795_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
Amygdala4.14 ± 0.9
Basal Forebrain4.35 ± 0.51
Basal Part of Pons3.84 ± 0.68
Cerebellar Cortex3.53 ± 0.56
Cerebellar Nuclei4.36 ± 0.64
Claustrum4.6 ± 0.8
Epithalamus4.29 ± 0.35
Frontal Lobe4 ± 0.71
Globus Pallidus5.85 ± 0.46
Hypothalamus3.72 ± 0.7
Insula3.68 ± 0.58
Limbic Lobe4.09 ± 0.89
Mesencephalon4.17 ± 0.84
Myelencephalon4.27 ± 0.7
Occipital Lobe4.2 ± 0.71
Parietal Lobe4.17 ± 0.83
Pontine Tegmentum4.24 ± 0.75
Striatum4.77 ± 0.68
Subthalamus4.17 ± 0.65
Temporal Lobe3.9 ± 0.72
Thalamus4.39 ± 0.6
White Matter6.04 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Notch1CBCerebellum27.17
34.9
Notch1CTXCerebral cortex61.47
37.06
Notch1HIPHippocampal region48.85
60.45
Notch1HPFHippocampal formation54.35
51.62
Notch1HYHypothalamus6.65
3.49
Notch1LSXLateral septal complex4.26
2.67
Notch1MBMidbrain14.74
10.95
Notch1MYMedulla24.53
18.93
Notch1OLFOlfactory bulb49.84
30.05
Notch1PPons17.19
12.31
Notch1PALPallidum15.46
10.32
Notch1RHPRetrohippocampal region62.99
41.74
Notch1sAMYStriatum-like amygdalar nuclei42.02
23.88
Notch1STRStriatum42.49
23.55
Notch1STRdStriatum dorsal region50.27
28.36
Notch1STRvStriatum ventral region27.08
13.43
Notch1THThalamus24.28
15.95
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NOTC1_HUMAN_1635 16 1635 1650 AAEGWAAPDALLGQVK PRIDE
PAp00040607 23 1212 1234 GTQGVHCEINVDDCNPPVDPVSR 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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