AutismKB 2.0

Annotation Detail for JAK1


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Basic Information Top
Gene Symbol:JAK1 ( JAK1A,JAK1B,JTK3 )
Gene Full Name: Janus kinase 1
Band: 1p31.3
Quick LinksEntrez ID:3716; OMIM: 147795; Uniprot ID:JAK1_HUMAN; ENSEMBL ID: ENSG00000162434; HGNC ID: 6190
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 body7 / 7076198
blastocyst0 / 623190 
fetus28 / 56401249
neonate1 / 3109732
infant0 / 236200 
juvenile5 / 5555689
adult196 / 1939121101
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) tumor6 / 9417863
cervical tumor4 / 34366116
chondrosarcoma13 / 82823156
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor9 / 26384534
glioma4 / 10688337
head and neck tumor24 / 136302176
kidney tumor17 / 68959246
leukemia9 / 9584293
liver tumor11 / 96359114
lung tumor3 / 10312729
lymphoma12 / 71755167
non-neoplasia4 / 9725041
normal265 / 336030778
ovarian tumor6 / 7668278
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor10 / 12494980
soft tissue/muscle tissue tumor26 / 125191207
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 
bladder1 / 2975733
blood7 / 12347856
bone12 / 71655167
bone marrow3 / 4880161
brain52 / 110098947
cervix7 / 48171145
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus1 / 2020949
eye9 / 21105442
heart6 / 8962666
intestine11 / 23447246
kidney27 / 211777127
larynx22 / 24145911
liver12 / 20774357
lung16 / 33697447
lymph9 / 44270203
lymph node32 / 91610349
mammary gland14 / 15327191
mouth7 / 67052104
muscle5 / 10771546
nerve2 / 15768126
ovary3 / 10205129
pancreas26 / 214812121
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate9 / 18934547
salivary gland0 / 201550 
skin15 / 21057471
spleen0 / 539520 
stomach3 / 9661931
testis30 / 33044290
thymus4 / 8113149
thyroid14 / 47473294
tonsil4 / 16999235
trachea7 / 52413133
umbilical cord0 / 136800 
uterus20 / 23287885
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201648_at
Cell line Expression level Expression bar
721_B_lymphoblasts50.5
Adipocyte509.4
AdrenalCortex19.35
Adrenalgland38.75
Amygdala157.3
Appendix65.25
AtrioventricularNode7.05
BDCA4+_DentriticCells917.9
Bonemarrow87.15
BronchialEpithelialCells158.3
CD105+_Endothelial191.95
CD14+_Monocytes737.65
CD19+_BCells(neg._sel.)1059.85
CD33+_Myeloid730
CD34+513.65
CD4+_Tcells1310.8
CD56+_NKCells2704.2
CD71+_EarlyErythroid43.35
CD8+_Tcells1368.45
CardiacMyocytes70.05
Caudatenucleus93.85
Cerebellum63.4
CerebellumPeduncles116.25
CiliaryGanglion32.9
CingulateCortex115.85
Colorectaladenocarcinoma51.55
DorsalRootGanglion35.65
FetalThyroid108.35
Fetalbrain125.2
Fetalliver38.75
Fetallung263.4
GlobusPallidus30.7
Heart12.1
Hypothalamus266.3
Kidney34.75
Leukemia_chronicMyelogenousK-56280.6
Leukemia_promyelocytic-HL-60123.05
Leukemialymphoblastic(MOLT-4)36.5
Liver13.45
Lung125.95
Lymphnode473.9
Lymphoma_burkitts(Daudi)324.6
Lymphoma_burkitts(Raji)107.1
MedullaOblongata55.15
OccipitalLobe81
OlfactoryBulb112
Ovary81.25
Pancreas104.45
PancreaticIslet451.55
ParietalLobe73.55
Pituitary255.1
Placenta101
Pons39.5
PrefrontalCortex157.05
Prostate62.9
Salivarygland191.9
SkeletalMuscle11.3
Skin67
SmoothMuscle427.35
Spinalcord166.05
SubthalamicNucleus100.8
SuperiorCervicalGanglion12
TemporalLobe52.95
Testis103.7
TestisGermCell189.45
TestisIntersitial114
TestisLeydigCell100.1
TestisSeminiferousTubule110.75
Thalamus278.4
Thymus195.2
Thyroid194.6
Tongue49.5
Tonsil304.75
Trachea104.9
TrigeminalGanglion17.2
Uterus186.85
UterusCorpus29.65
WholeBlood1012.8
Wholebrain87.2
colon186.3
pineal_day212.44
pineal_night202.52
retina151.425
small_intestine136.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P410678
  • 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
Amygdala9.8 ± 0.39
Basal Forebrain9.91 ± 0.25
Basal Part of Pons10.19 ± 0.19
Cerebellar Cortex10.2 ± 0.23
Cerebellar Nuclei10.08 ± 0.26
Claustrum9.69 ± 0.25
Epithalamus9.93 ± 0.3
Frontal Lobe9.95 ± 0.33
Globus Pallidus10.4 ± 0.29
Hypothalamus9.86 ± 0.31
Insula9.75 ± 0.3
Limbic Lobe9.99 ± 0.28
Mesencephalon9.91 ± 0.37
Myelencephalon9.94 ± 0.28
Occipital Lobe10.16 ± 0.21
Parietal Lobe10.08 ± 0.26
Pontine Tegmentum10.07 ± 0.34
Striatum9.79 ± 0.26
Subthalamus10.1 ± 0.19
Temporal Lobe9.93 ± 0.28
Thalamus10.23 ± 0.34
White Matter10.11 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Jak1CBCerebellum0.64
0.85
Jak1CTXCerebral cortex1.33
1.37
Jak1HIPHippocampal region1.87
1.55
Jak1HPFHippocampal formation1.86
1.44
Jak1HYHypothalamus0.08
0.06
Jak1LSXLateral septal complex0.71
1.92
Jak1MBMidbrain0.52
0.81
Jak1MYMedulla1.8
2.69
Jak1OLFOlfactory bulb2.09
4.25
Jak1PPons1.88
3.28
Jak1PALPallidum0.39
0.41
Jak1RHPRetrohippocampal region1.92
1.3
Jak1sAMYStriatum-like amygdalar nuclei1.09
1
Jak1STRStriatum0.6
0.63
Jak1STRdStriatum dorsal region0.67
0.59
Jak1STRvStriatum ventral region0.07
0.08
Jak1THThalamus0.79
0.92
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003389 11 649 659 HIVYLYGVCVR 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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