AutismKB 2.0

Annotation Detail for NUMB


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NUMB ( S171 )
Gene Full Name: numb homolog (Drosophila)
Band: 14q24.3
Quick LinksEntrez ID:8650; OMIM: 603728; Uniprot ID:NUMB_HUMAN; ENSEMBL ID: ENSG00000133961; HGNC ID: 8060
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
blastocyst7 / 62319112
fetus52 / 56401292
neonate5 / 31097160
infant0 / 236200 
juvenile1 / 5555617
adult183 / 193912194
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor6 / 9417863
cervical tumor5 / 34366145
chondrosarcoma5 / 8282360
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor11 / 11936992
germ cell tumor21 / 26384579
glioma7 / 10688365
head and neck tumor24 / 136302176
kidney tumor4 / 6895958
leukemia13 / 95842135
liver tumor6 / 9635962
lung tumor3 / 10312729
lymphoma5 / 7175569
non-neoplasia11 / 97250113
normal291 / 336030786
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder3 / 29757100
blood23 / 123478186
bone6 / 7165583
bone marrow7 / 48801143
brain74 / 110098967
cervix16 / 48171332
connective tissue10 / 14925566
ear1 / 1621261
embryonic tissue16 / 21572274
esophagus2 / 2020998
eye6 / 21105428
heart7 / 8962678
intestine19 / 23447281
kidney14 / 21177766
larynx2 / 2414582
liver15 / 20774372
lung30 / 33697489
lymph1 / 4427022
lymph node7 / 9161076
mammary gland10 / 15327165
mouth20 / 67052298
muscle7 / 10771564
nerve1 / 1576863
ovary2 / 10205119
pancreas4 / 21481218
parathyroid5 / 20539243
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta32 / 280825113
prostate19 / 189345100
salivary gland0 / 201550 
skin7 / 21057433
spleen4 / 5395274
stomach16 / 96619165
testis31 / 33044293
thymus19 / 81131234
thyroid2 / 4747342
tonsil0 / 169990 
trachea20 / 52413381
umbilical cord0 / 136800 
uterus32 / 232878137
vascular13 / 51780251
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207545_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts24.75
Adipocyte19.45
AdrenalCortex47.35
Adrenalgland22.95
Amygdala16.9
Appendix46.35
AtrioventricularNode52.15
BDCA4+_DentriticCells23.7
Bonemarrow31.5
BronchialEpithelialCells18.5
CD105+_Endothelial38.9
CD14+_Monocytes88.95
CD19+_BCells(neg._sel.)24.45
CD33+_Myeloid71.7
CD34+28.35
CD4+_Tcells15.8
CD56+_NKCells25.3
CD71+_EarlyErythroid23.35
CD8+_Tcells19
CardiacMyocytes41.75
Caudatenucleus19.1
Cerebellum16.85
CerebellumPeduncles30.65
CiliaryGanglion45.35
CingulateCortex27.1
Colorectaladenocarcinoma25
DorsalRootGanglion38.9
FetalThyroid28.75
Fetalbrain21.1
Fetalliver19.6
Fetallung16.15
GlobusPallidus24.75
Heart37.9
Hypothalamus17.45
Kidney22
Leukemia_chronicMyelogenousK-56219.2
Leukemia_promyelocytic-HL-6017.9
Leukemialymphoblastic(MOLT-4)15.8
Liver38.6
Lung23.7
Lymphnode17.65
Lymphoma_burkitts(Daudi)30.8
Lymphoma_burkitts(Raji)40.8
MedullaOblongata17.65
OccipitalLobe19.1
OlfactoryBulb24.85
Ovary28.3
Pancreas23.55
PancreaticIslet27.55
ParietalLobe27.7
Pituitary24.3
Placenta18.7
Pons27.15
PrefrontalCortex20.05
Prostate23.65
Salivarygland26.05
SkeletalMuscle49.8
Skin42.15
SmoothMuscle30.1
Spinalcord21.45
SubthalamicNucleus29.35
SuperiorCervicalGanglion65.05
TemporalLobe23.6
Testis15.9
TestisGermCell17.3
TestisIntersitial24.4
TestisLeydigCell29.9
TestisSeminiferousTubule20.5
Thalamus25.4
Thymus15.05
Thyroid27.9
Tongue42.15
Tonsil24.45
Trachea19.25
TrigeminalGanglion69.45
Uterus24.7
UterusCorpus31.85
WholeBlood196.65
Wholebrain12.85
colon26.25
pineal_day23.98
pineal_night27.44
retina32
small_intestine59.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12419_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
Amygdala6.89 ± 0.35
Basal Forebrain6.89 ± 0.18
Basal Part of Pons6.7 ± 0.29
Cerebellar Cortex6.93 ± 0.43
Cerebellar Nuclei6.89 ± 0.25
Claustrum7.76 ± 0.4
Epithalamus7.06 ± 0.32
Frontal Lobe6.8 ± 0.43
Globus Pallidus6.87 ± 0.25
Hypothalamus6.6 ± 0.39
Insula6.76 ± 0.22
Limbic Lobe7.1 ± 0.37
Mesencephalon6.87 ± 0.48
Myelencephalon6.91 ± 0.46
Occipital Lobe7.15 ± 0.45
Parietal Lobe6.91 ± 0.4
Pontine Tegmentum6.85 ± 0.36
Striatum6.97 ± 0.35
Subthalamus6.63 ± 0.21
Temporal Lobe6.77 ± 0.4
Thalamus6.61 ± 0.28
White Matter7 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NumbCBCerebellum79.23
100
NumbCTXCerebral cortex100
85.99
NumbHIPHippocampal region38.34
47.49
NumbHPFHippocampal formation45.06
47.4
NumbHYHypothalamus16.35
11.5
NumbLSXLateral septal complex17.29
11.28
NumbMBMidbrain23.07
21.21
NumbMYMedulla39.98
38.62
NumbOLFOlfactory bulb96.28
95.5
NumbPPons26.67
25
NumbPALPallidum22.26
17.33
NumbRHPRetrohippocampal region61.41
50.83
NumbsAMYStriatum-like amygdalar nuclei31.09
22.62
NumbSTRStriatum34.75
23.8
NumbSTRdStriatum dorsal region38.31
26.81
NumbSTRvStriatum ventral region35.73
22.31
NumbTHThalamus29.8
23.66
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002100 14 173 186 EKECGVTATFDASR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved