AutismKB 2.0

Annotation Detail for JAK3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:JAK3 ( JAK-3,JAK3_HUMAN,JAKL,L-JAK,LJAK )
Gene Full Name: Janus kinase 3
Band: 19p13.11
Quick LinksEntrez ID:3718; OMIM: 600173; Uniprot ID:JAK3_HUMAN; ENSEMBL ID: ENSG00000105639; HGNC ID: 6193
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 body0 / 707610 
blastocyst0 / 623190 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult16 / 19391218
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal51 / 336030715
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood6 / 12347848
bone0 / 716550 
bone marrow3 / 4880161
brain1 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart3 / 8962633
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung4 / 33697411
lymph0 / 442700 
lymph node22 / 91610240
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis0 / 3304420 
thymus2 / 8113124
thyroid1 / 4747321
tonsil2 / 16999117
trachea2 / 5241338
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207187_at
Cell line Expression level Expression bar
721_B_lymphoblasts10
Adipocyte9.85
AdrenalCortex10.05
Adrenalgland7.25
Amygdala9.45
Appendix12.1
AtrioventricularNode9.35
BDCA4+_DentriticCells8.65
Bonemarrow8.25
BronchialEpithelialCells8.1
CD105+_Endothelial7.9
CD14+_Monocytes8.95
CD19+_BCells(neg._sel.)9
CD33+_Myeloid10.1
CD34+9.25
CD4+_Tcells9.7
CD56+_NKCells11.2
CD71+_EarlyErythroid7.55
CD8+_Tcells8.45
CardiacMyocytes11
Caudatenucleus10.5
Cerebellum11.7
CerebellumPeduncles14.8
CiliaryGanglion12.4
CingulateCortex12.1
Colorectaladenocarcinoma8.3
DorsalRootGanglion10.55
FetalThyroid12.45
Fetalbrain8.5
Fetalliver8.3
Fetallung7.3
GlobusPallidus6.1
Heart10.95
Hypothalamus9.7
Kidney6.8
Leukemia_chronicMyelogenousK-5627.95
Leukemia_promyelocytic-HL-607.35
Leukemialymphoblastic(MOLT-4)8.05
Liver13
Lung9.4
Lymphnode7.35
Lymphoma_burkitts(Daudi)10.4
Lymphoma_burkitts(Raji)11.85
MedullaOblongata9.85
OccipitalLobe14.3
OlfactoryBulb6.55
Ovary6.3
Pancreas6.7
PancreaticIslet9.25
ParietalLobe9.3
Pituitary18.5
Placenta8.95
Pons10.55
PrefrontalCortex10.35
Prostate10.15
Salivarygland8.8
SkeletalMuscle14.9
Skin7.9
SmoothMuscle9.75
Spinalcord11.6
SubthalamicNucleus7.8
SuperiorCervicalGanglion12.85
TemporalLobe10.3
Testis7.6
TestisGermCell7.15
TestisIntersitial7.6
TestisLeydigCell9.25
TestisSeminiferousTubule10.55
Thalamus8.8
Thymus6.85
Thyroid10.9
Tongue15.25
Tonsil8.15
Trachea7.35
TrigeminalGanglion15.3
Uterus6.95
UterusCorpus10
WholeBlood11.3
Wholebrain8.15
colon8
pineal_day9.28
pineal_night8.72
retina11.3
small_intestine7.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P59667
  • 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
Amygdala8.15 ± 0.28
Basal Forebrain7.89 ± 0.26
Basal Part of Pons8.34 ± 0.33
Cerebellar Cortex7.55 ± 0.29
Cerebellar Nuclei7.78 ± 0.48
Claustrum8.65 ± 0.23
Epithalamus7.34 ± 0.41
Frontal Lobe7.99 ± 0.39
Globus Pallidus7.48 ± 0.8
Hypothalamus8.55 ± 0.33
Insula8.07 ± 0.28
Limbic Lobe8.06 ± 0.31
Mesencephalon7.99 ± 0.47
Myelencephalon7.84 ± 0.56
Occipital Lobe7.59 ± 0.42
Parietal Lobe8.05 ± 0.46
Pontine Tegmentum7.64 ± 0.45
Striatum7.2 ± 0.71
Subthalamus7.93 ± 0.28
Temporal Lobe8.02 ± 0.27
Thalamus7.36 ± 0.46
White Matter6.07 ± 0.69
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Jak3CBCerebellum6.7
7.52
Jak3CTXCerebral cortex8.32
6.24
Jak3HIPHippocampal region2.98
3.03
Jak3HPFHippocampal formation2.57
2.51
Jak3HYHypothalamus1.44
1.44
Jak3LSXLateral septal complex0.87
0.69
Jak3MBMidbrain4.35
4.03
Jak3MYMedulla14.37
16.17
Jak3OLFOlfactory bulb8.89
6.38
Jak3PPons6.34
7.37
Jak3PALPallidum0.82
0.67
Jak3RHPRetrohippocampal region1.92
1.83
Jak3sAMYStriatum-like amygdalar nuclei0.88
0.63
Jak3STRStriatum1.41
1.14
Jak3STRdStriatum dorsal region1.55
1.32
Jak3STRvStriatum ventral region1.43
1
Jak3THThalamus2.2
1.8
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


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