AutismKB 2.0

Annotation Detail for PRKAA1


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Basic Information Top
Gene Symbol:PRKAA1 ( AMPK,AMPKa1,MGC33776,MGC57364 )
Gene Full Name: protein kinase, AMP-activated, alpha 1 catalytic subunit
Band: 5p13.1
Quick LinksEntrez ID:5562; OMIM: 602739; Uniprot ID:AAPK1_HUMAN; ENSEMBL ID: ENSG00000132356; HGNC ID: 9376
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
blastocyst0 / 623190 
fetus19 / 56401233
neonate2 / 3109764
infant0 / 236200 
juvenile3 / 5555653
adult112 / 193912157
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor4 / 34366116
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor6 / 11936950
germ cell tumor14 / 26384553
glioma3 / 10688328
head and neck tumor15 / 136302110
kidney tumor2 / 6895929
leukemia7 / 9584273
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma3 / 7175541
non-neoplasia0 / 972500 
normal163 / 336030748
ovarian tumor3 / 7668239
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites3 / 4001574
bladder1 / 2975733
blood10 / 12347880
bone2 / 7165527
bone marrow1 / 4880120
brain37 / 110098933
cervix4 / 4817183
connective tissue2 / 14925513
ear3 / 16212185
embryonic tissue11 / 21572250
esophagus2 / 2020998
eye1 / 2110544
heart0 / 896260 
intestine6 / 23447225
kidney9 / 21177742
larynx3 / 24145124
liver15 / 20774372
lung17 / 33697450
lymph2 / 4427045
lymph node2 / 9161021
mammary gland14 / 15327191
mouth10 / 67052149
muscle11 / 107715102
nerve2 / 15768126
ovary3 / 10205129
pancreas9 / 21481241
parathyroid7 / 20539340
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate9 / 18934547
salivary gland1 / 2015549
skin6 / 21057428
spleen3 / 5395255
stomach3 / 9661931
testis30 / 33044290
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea30 / 52413572
umbilical cord0 / 136800 
uterus19 / 23287881
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209799_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.45
Adipocyte8.2
AdrenalCortex8.9
Adrenalgland6.75
Amygdala7.35
Appendix9.45
AtrioventricularNode6.8
BDCA4+_DentriticCells9.8
Bonemarrow7.9
BronchialEpithelialCells7.15
CD105+_Endothelial7.4
CD14+_Monocytes8.1
CD19+_BCells(neg._sel.)8.45
CD33+_Myeloid9.1
CD34+8.85
CD4+_Tcells31.35
CD56+_NKCells32.3
CD71+_EarlyErythroid7.65
CD8+_Tcells31.35
CardiacMyocytes11.45
Caudatenucleus6.65
Cerebellum6
CerebellumPeduncles9.3
CiliaryGanglion6.05
CingulateCortex7.8
Colorectaladenocarcinoma7.25
DorsalRootGanglion6.35
FetalThyroid7.3
Fetalbrain6.95
Fetalliver7.55
Fetallung5.95
GlobusPallidus5.95
Heart11
Hypothalamus7.6
Kidney6.6
Leukemia_chronicMyelogenousK-5626.55
Leukemia_promyelocytic-HL-606.5
Leukemialymphoblastic(MOLT-4)5.8
Liver10.8
Lung8.05
Lymphnode6.55
Lymphoma_burkitts(Daudi)9.5
Lymphoma_burkitts(Raji)11.15
MedullaOblongata6.5
OccipitalLobe6.55
OlfactoryBulb5.65
Ovary6.2
Pancreas6.15
PancreaticIslet8.3
ParietalLobe8.25
Pituitary8.5
Placenta7.25
Pons7.35
PrefrontalCortex8.4
Prostate8.4
Salivarygland6.25
SkeletalMuscle12.65
Skin6.4
SmoothMuscle8.95
Spinalcord8
SubthalamicNucleus7
SuperiorCervicalGanglion11.9
TemporalLobe6.9
Testis130.05
TestisGermCell119.65
TestisIntersitial207.15
TestisLeydigCell127.8
TestisSeminiferousTubule87.45
Thalamus7.45
Thymus5.6
Thyroid8.75
Tongue8.45
Tonsil7.65
Trachea7
TrigeminalGanglion8.55
Uterus5.95
UterusCorpus8.05
WholeBlood9.55
Wholebrain5.75
colon9.4
pineal_day9.04
pineal_night8.82
retina9.025
small_intestine7.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14368_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
Amygdala5.49 ± 0.45
Basal Forebrain5.68 ± 0.15
Basal Part of Pons5.77 ± 0.25
Cerebellar Cortex5.86 ± 0.27
Cerebellar Nuclei6.28 ± 0.31
Claustrum5.61 ± 0.48
Epithalamus5.71 ± 0.56
Frontal Lobe5.56 ± 0.4
Globus Pallidus6.09 ± 0.31
Hypothalamus5.81 ± 0.33
Insula5.49 ± 0.41
Limbic Lobe5.5 ± 0.37
Mesencephalon5.75 ± 0.5
Myelencephalon5.63 ± 0.41
Occipital Lobe5.87 ± 0.36
Parietal Lobe5.64 ± 0.39
Pontine Tegmentum5.61 ± 0.54
Striatum5.71 ± 0.48
Subthalamus6.04 ± 0.54
Temporal Lobe5.5 ± 0.4
Thalamus5.72 ± 0.27
White Matter6.66 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Prkaa1CBCerebellum4.32
6.44
Prkaa1CTXCerebral cortex2.06
2.31
Prkaa1HIPHippocampal region3.51
3.95
Prkaa1HPFHippocampal formation3.14
3.61
Prkaa1HYHypothalamus0.28
0.52
Prkaa1LSXLateral septal complex0.9
1.15
Prkaa1MBMidbrain2.92
3.35
Prkaa1MYMedulla15.17
17.61
Prkaa1OLFOlfactory bulb1
1.36
Prkaa1PPons6.39
7.71
Prkaa1PALPallidum0.6
0.62
Prkaa1RHPRetrohippocampal region2.32
3.1
Prkaa1sAMYStriatum-like amygdalar nuclei0.94
0.75
Prkaa1STRStriatum0.74
0.78
Prkaa1STRdStriatum dorsal region0.85
0.94
Prkaa1STRvStriatum ventral region0.23
0.14
Prkaa1THThalamus2.05
2.11
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AAPK1_HUMAN_2 11 2 12 ATAEKQKHDGR PRIDE
AAPK1_HUMAN_45 11 45 55 AVKILNRQKIR PRIDE
PAp00007391 14 428 441 SQSRPNDIMAEVCR 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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