AutismKB 2.0

Annotation Detail for PRKAG2


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Basic Information Top
Gene Symbol:PRKAG2 ( AAKG,AAKG2,CMH6,H91620p,WPWS )
Gene Full Name: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
Band: 7q36.1
Quick LinksEntrez ID:51422; OMIM: 602743; Uniprot ID:AAKG2_HUMAN; ENSEMBL ID: ENSG00000106617; HGNC ID: 9386
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 body4 / 7076156
blastocyst0 / 623190 
fetus38 / 56401267
neonate2 / 3109764
infant0 / 236200 
juvenile2 / 5555635
adult103 / 193912153
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor9 / 26384534
glioma7 / 10688365
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal222 / 336030766
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood5 / 12347840
bone0 / 716550 
bone marrow0 / 488010 
brain94 / 110098985
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye12 / 21105456
heart7 / 8962678
intestine9 / 23447238
kidney17 / 21177780
larynx0 / 241450 
liver6 / 20774328
lung22 / 33697465
lymph1 / 4427022
lymph node2 / 9161021
mammary gland5 / 15327132
mouth2 / 6705229
muscle2 / 10771518
nerve2 / 15768126
ovary1 / 1020519
pancreas8 / 21481237
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta21 / 28082574
prostate8 / 18934542
salivary gland0 / 201550 
skin2 / 2105749
spleen4 / 5395274
stomach3 / 9661931
testis12 / 33044236
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord2 / 13680146
uterus22 / 23287894
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218292_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.65
Adipocyte4.95
AdrenalCortex5.25
Adrenalgland4.2
Amygdala10
Appendix8.7
AtrioventricularNode3.85
BDCA4+_DentriticCells6.05
Bonemarrow4.9
BronchialEpithelialCells5.35
CD105+_Endothelial4.85
CD14+_Monocytes5.35
CD19+_BCells(neg._sel.)5.2
CD33+_Myeloid6.35
CD34+6.05
CD4+_Tcells5.25
CD56+_NKCells5.9
CD71+_EarlyErythroid4.6
CD8+_Tcells4.95
CardiacMyocytes6.55
Caudatenucleus7.5
Cerebellum4.15
CerebellumPeduncles5.65
CiliaryGanglion3.45
CingulateCortex5.95
Colorectaladenocarcinoma5.05
DorsalRootGanglion3.95
FetalThyroid4.9
Fetalbrain5
Fetalliver4.3
Fetallung4.5
GlobusPallidus3.7
Heart10.25
Hypothalamus7.4
Kidney4.35
Leukemia_chronicMyelogenousK-5624.4
Leukemia_promyelocytic-HL-604.3
Leukemialymphoblastic(MOLT-4)3.9
Liver6.55
Lung5.3
Lymphnode4.25
Lymphoma_burkitts(Daudi)6.3
Lymphoma_burkitts(Raji)7.1
MedullaOblongata5.2
OccipitalLobe4.5
OlfactoryBulb4
Ovary3.5
Pancreas4.1
PancreaticIslet6.15
ParietalLobe5.5
Pituitary5.85
Placenta25.5
Pons4.7
PrefrontalCortex6.95
Prostate6.25
Salivarygland4.85
SkeletalMuscle7.25
Skin4.15
SmoothMuscle7.35
Spinalcord6.25
SubthalamicNucleus4.65
SuperiorCervicalGanglion13.5
TemporalLobe4.55
Testis4.25
TestisGermCell4.25
TestisIntersitial7.35
TestisLeydigCell5.4
TestisSeminiferousTubule4.35
Thalamus5.6
Thymus3.85
Thyroid6.3
Tongue5.6
Tonsil4.8
Trachea4.1
TrigeminalGanglion6
Uterus4.05
UterusCorpus4.6
WholeBlood5.85
Wholebrain6.85
colon4.9
pineal_day5.92
pineal_night5.8
retina5.95
small_intestine5.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P314760
  • 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
Amygdala10.1 ± 0.4
Basal Forebrain9.57 ± 0.32
Basal Part of Pons10.21 ± 0.21
Cerebellar Cortex9.47 ± 0.12
Cerebellar Nuclei9.7 ± 0.5
Claustrum9.91 ± 0.34
Epithalamus10.04 ± 0.46
Frontal Lobe9.71 ± 0.41
Globus Pallidus10.22 ± 0.22
Hypothalamus9.7 ± 0.44
Insula9.63 ± 0.32
Limbic Lobe10.19 ± 0.37
Mesencephalon9.53 ± 0.53
Myelencephalon9.79 ± 0.47
Occipital Lobe10.13 ± 0.4
Parietal Lobe9.84 ± 0.36
Pontine Tegmentum9.79 ± 0.39
Striatum10.97 ± 0.41
Subthalamus10 ± 0.16
Temporal Lobe9.68 ± 0.26
Thalamus9.59 ± 0.31
White Matter8.15 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Prkag2CBCerebellum57.35
58.46
Prkag2CTXCerebral cortex100
96.1
Prkag2HIPHippocampal region95.12
100
Prkag2HPFHippocampal formation99.65
100
Prkag2HYHypothalamus70.47
58.04
Prkag2LSXLateral septal complex79.47
74.29
Prkag2MBMidbrain51.75
47.48
Prkag2MYMedulla53.31
59.47
Prkag2OLFOlfactory bulb77.86
74.89
Prkag2PPons56.58
63
Prkag2PALPallidum55.13
51.53
Prkag2RHPRetrohippocampal region100
100
Prkag2sAMYStriatum-like amygdalar nuclei73.5
63.58
Prkag2STRStriatum79.54
74.91
Prkag2STRdStriatum dorsal region77.07
72.39
Prkag2STRvStriatum ventral region89.4
80.85
Prkag2THThalamus80.66
75.6
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


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