AutismKB 2.0

Annotation Detail for PDK1


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Basic Information Top
Gene Symbol:PDK1 ( - )
Gene Full Name: pyruvate dehydrogenase kinase, isozyme 1
Band: 2q31.1
Quick LinksEntrez ID:5163; OMIM: 602524; Uniprot ID:PDK1_HUMAN; ENSEMBL ID: ENSG00000152256; HGNC ID: 8809
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 body1 / 7076114
blastocyst5 / 6231980
fetus17 / 56401230
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult52 / 193912126
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) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor13 / 26384549
glioma1 / 1068839
head and neck tumor11 / 13630280
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal91 / 336030727
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood3 / 12347824
bone1 / 7165513
bone marrow2 / 4880140
brain19 / 110098917
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye10 / 21105447
heart3 / 8962633
intestine2 / 2344728
kidney7 / 21177733
larynx1 / 2414541
liver1 / 2077434
lung10 / 33697429
lymph1 / 4427022
lymph node5 / 9161054
mammary gland4 / 15327126
mouth9 / 67052134
muscle6 / 10771555
nerve0 / 157680 
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate4 / 18934521
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach3 / 9661931
testis20 / 33044260
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus2 / 2328788
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206686_at
Cell line Expression level Expression bar
721_B_lymphoblasts25.2
Adipocyte7.75
AdrenalCortex5.1
Adrenalgland4.05
Amygdala4.8
Appendix4.75
AtrioventricularNode3.75
BDCA4+_DentriticCells8.75
Bonemarrow4.8
BronchialEpithelialCells12.35
CD105+_Endothelial4.8
CD14+_Monocytes5
CD19+_BCells(neg._sel.)6.75
CD33+_Myeloid5.9
CD34+5.85
CD4+_Tcells13
CD56+_NKCells5.45
CD71+_EarlyErythroid4.4
CD8+_Tcells11.7
CardiacMyocytes10.2
Caudatenucleus4.2
Cerebellum3.75
CerebellumPeduncles5.4
CiliaryGanglion3.4
CingulateCortex4.75
Colorectaladenocarcinoma9.05
DorsalRootGanglion3.65
FetalThyroid4.5
Fetalbrain4.75
Fetalliver4.3
Fetallung5.2
GlobusPallidus3.4
Heart6.4
Hypothalamus4.95
Kidney4.55
Leukemia_chronicMyelogenousK-5624.4
Leukemia_promyelocytic-HL-6022.05
Leukemialymphoblastic(MOLT-4)12.8
Liver6.4
Lung5.05
Lymphnode4.1
Lymphoma_burkitts(Daudi)7.15
Lymphoma_burkitts(Raji)7.85
MedullaOblongata4.2
OccipitalLobe4.25
OlfactoryBulb3.7
Ovary7.5
Pancreas4.2
PancreaticIslet5.05
ParietalLobe7.6
Pituitary5.5
Placenta4.75
Pons4.45
PrefrontalCortex5.75
Prostate5.45
Salivarygland4.3
SkeletalMuscle6.35
Skin3.65
SmoothMuscle19.2
Spinalcord4.95
SubthalamicNucleus4.3
SuperiorCervicalGanglion5.45
TemporalLobe4.3
Testis9.5
TestisGermCell6.4
TestisIntersitial7.4
TestisLeydigCell6.7
TestisSeminiferousTubule5.95
Thalamus4.7
Thymus5.05
Thyroid6.6
Tongue4.75
Tonsil9.3
Trachea4.8
TrigeminalGanglion4.7
Uterus3.7
UterusCorpus6.8
WholeBlood7.5
Wholebrain3.9
colon4.75
pineal_day5.74
pineal_night5.6
retina5.9
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P10614
  • 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
Amygdala5.52 ± 0.33
Basal Forebrain5.46 ± 0.16
Basal Part of Pons5.77 ± 0.16
Cerebellar Cortex5.66 ± 0.27
Cerebellar Nuclei5.17 ± 0.31
Claustrum5.7 ± 0.4
Epithalamus4.98 ± 0.26
Frontal Lobe5.2 ± 0.33
Globus Pallidus5.3 ± 0.28
Hypothalamus5.31 ± 0.39
Insula5.2 ± 0.48
Limbic Lobe5.37 ± 0.38
Mesencephalon5.28 ± 0.39
Myelencephalon5.36 ± 0.38
Occipital Lobe5.75 ± 0.33
Parietal Lobe5.45 ± 0.39
Pontine Tegmentum5.35 ± 0.46
Striatum5.33 ± 0.43
Subthalamus5.28 ± 0.34
Temporal Lobe5.38 ± 0.34
Thalamus5.49 ± 0.35
White Matter5.47 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pdk1CBCerebellum2.26
2.93
Pdk1CTXCerebral cortex45.96
36.66
Pdk1HIPHippocampal region26.23
29.18
Pdk1HPFHippocampal formation32.55
31.94
Pdk1HYHypothalamus1.25
1.04
Pdk1LSXLateral septal complex2.98
2.38
Pdk1MBMidbrain0.8
0.79
Pdk1MYMedulla1.49
1.81
Pdk1OLFOlfactory bulb21.71
19.77
Pdk1PPons1.1
1.36
Pdk1PALPallidum3.28
3.02
Pdk1RHPRetrohippocampal region42.45
35.08
Pdk1sAMYStriatum-like amygdalar nuclei14.79
11.31
Pdk1STRStriatum5.81
4.41
Pdk1STRdStriatum dorsal region6.29
4.93
Pdk1STRvStriatum ventral region2.1
1.37
Pdk1THThalamus2.53
2.55
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00027530 21 238 258 RLCDLYYINSPELELEELNAK 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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