AutismKB 2.0

Annotation Detail for PDPR


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PDPR ( DKFZp686A088,DKFZp686D16130,FLJ10079,PDP3 )
Gene Full Name: pyruvate dehydrogenase phosphatase regulatory subunit
Band: 16q22.1
Quick LinksEntrez ID:55066; OMIM: NA; Uniprot ID:PDPR_HUMAN; ENSEMBL ID: ENSG00000090857; HGNC ID: 30264
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
blastocyst5 / 6231980
fetus36 / 56401263
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult93 / 193912147
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) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor13 / 114246113
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor15 / 26384556
glioma1 / 1068839
head and neck tumor14 / 136302102
kidney tumor4 / 6895958
leukemia13 / 95842135
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal174 / 336030751
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
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 
bladder0 / 297570 
blood13 / 123478105
bone6 / 7165583
bone marrow0 / 488010 
brain50 / 110098945
cervix2 / 4817141
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue21 / 21572297
esophagus1 / 2020949
eye2 / 2110549
heart2 / 8962622
intestine18 / 23447276
kidney12 / 21177756
larynx1 / 2414541
liver1 / 2077434
lung6 / 33697417
lymph1 / 4427022
lymph node16 / 91610174
mammary gland6 / 15327139
mouth3 / 6705244
muscle4 / 10771537
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta13 / 28082546
prostate4 / 18934521
salivary gland0 / 201550 
skin3 / 21057414
spleen5 / 5395292
stomach3 / 9661931
testis42 / 330442127
thymus4 / 8113149
thyroid10 / 47473210
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220236_at
Cell line Expression level Expression bar
721_B_lymphoblasts3.85
Adipocyte2.85
AdrenalCortex3
Adrenalgland2.4
Amygdala3.05
Appendix2.9
AtrioventricularNode2.15
BDCA4+_DentriticCells3.2
Bonemarrow2.8
BronchialEpithelialCells2.85
CD105+_Endothelial2.9
CD14+_Monocytes3.1
CD19+_BCells(neg._sel.)3.05
CD33+_Myeloid3.7
CD34+3.65
CD4+_Tcells3.15
CD56+_NKCells3.5
CD71+_EarlyErythroid2.7
CD8+_Tcells2.85
CardiacMyocytes3.55
Caudatenucleus2.55
Cerebellum2.3
CerebellumPeduncles3.25
CiliaryGanglion2
CingulateCortex2.9
Colorectaladenocarcinoma2.85
DorsalRootGanglion2.25
FetalThyroid2.75
Fetalbrain2.9
Fetalliver2.45
Fetallung2.4
GlobusPallidus2.1
Heart3.55
Hypothalamus3.15
Kidney2.25
Leukemia_chronicMyelogenousK-5622.55
Leukemia_promyelocytic-HL-602.5
Leukemialymphoblastic(MOLT-4)2.35
Liver3.75
Lung3.2
Lymphnode2.5
Lymphoma_burkitts(Daudi)3.65
Lymphoma_burkitts(Raji)3.95
MedullaOblongata2.6
OccipitalLobe2.55
OlfactoryBulb2.25
Ovary1.9
Pancreas2.25
PancreaticIslet3.05
ParietalLobe3
Pituitary3.35
Placenta3.05
Pons2.7
PrefrontalCortex3.65
Prostate3.4
Salivarygland2.3
SkeletalMuscle3.2
Skin2.55
SmoothMuscle3.25
Spinalcord3.05
SubthalamicNucleus2.6
SuperiorCervicalGanglion3.2
TemporalLobe2.6
Testis2.5
TestisGermCell2.45
TestisIntersitial2.4
TestisLeydigCell2.85
TestisSeminiferousTubule2.45
Thalamus2.9
Thymus2.3
Thyroid3.65
Tongue2.75
Tonsil2.8
Trachea2.4
TrigeminalGanglion2.8
Uterus2.4
UterusCorpus2.55
WholeBlood3.2
Wholebrain2.45
colon2.9
pineal_day3.58
pineal_night3.54
retina3.475
small_intestine2.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P206677
  • 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
Amygdala4.07 ± 0.55
Basal Forebrain4.26 ± 0.33
Basal Part of Pons4.22 ± 0.43
Cerebellar Cortex4.18 ± 0.39
Cerebellar Nuclei4.57 ± 0.37
Claustrum4.47 ± 1.13
Epithalamus3.83 ± 0.21
Frontal Lobe3.78 ± 0.67
Globus Pallidus4.79 ± 0.76
Hypothalamus3.52 ± 0.8
Insula3.71 ± 0.75
Limbic Lobe4.21 ± 0.69
Mesencephalon4.27 ± 0.7
Myelencephalon4.03 ± 0.74
Occipital Lobe4.47 ± 0.68
Parietal Lobe4.15 ± 0.76
Pontine Tegmentum4.09 ± 0.74
Striatum4.6 ± 0.62
Subthalamus3.94 ± 0.51
Temporal Lobe3.9 ± 0.65
Thalamus4.01 ± 0.7
White Matter4.88 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4930402E16RikCBCerebellum11.7
12.66
4930402E16RikCTXCerebral cortex29.82
21.46
4930402E16RikHIPHippocampal region23.74
24.42
4930402E16RikHPFHippocampal formation20.5
18.77
4930402E16RikHYHypothalamus5.73
4.6
4930402E16RikLSXLateral septal complex6.74
4.61
4930402E16RikMBMidbrain16.45
16.17
4930402E16RikMYMedulla10.84
12.63
4930402E16RikOLFOlfactory bulb21.69
15.6
4930402E16RikPPons19.07
21.35
4930402E16RikPALPallidum10.05
10.07
4930402E16RikRHPRetrohippocampal region15.45
11.4
4930402E16RiksAMYStriatum-like amygdalar nuclei6.48
4.45
4930402E16RikSTRStriatum7.69
5.57
4930402E16RikSTRdStriatum dorsal region7.26
5.42
4930402E16RikSTRvStriatum ventral region10.51
7.08
4930402E16RikTHThalamus20.23
17.62
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010894 13 354 366 LVNCPETFTPDMR 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