AutismKB 2.0

Annotation Detail for PDP1


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Basic Information Top
Gene Symbol:PDP1 ( FLJ32517,FLJ56179,MGC119646,PDH,PDP,PDPC,PPM2C )
Gene Full Name: pyruvate dehyrogenase phosphatase catalytic subunit 1
Band: 8q22.1
Quick LinksEntrez ID:54704; OMIM: 605993; Uniprot ID:PDP1_HUMAN; ENSEMBL ID: ENSG00000164951; HGNC ID: 9279
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
blastocyst0 / 623190 
fetus31 / 56401254
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult72 / 193912137
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma10 / 10688393
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal203 / 336030760
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland6 / 33197180
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain142 / 1100989128
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus2 / 2020998
eye3 / 21105414
heart3 / 8962633
intestine4 / 23447217
kidney11 / 21177751
larynx1 / 2414541
liver6 / 20774328
lung11 / 33697432
lymph0 / 442700 
lymph node4 / 9161043
mammary gland4 / 15327126
mouth4 / 6705259
muscle15 / 107715139
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta6 / 28082521
prostate3 / 18934515
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach2 / 9661920
testis23 / 33044269
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus9 / 23287838
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218273_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.05
Adipocyte5.4
AdrenalCortex17.85
Adrenalgland10.8
Amygdala19.3
Appendix5.95
AtrioventricularNode5.15
BDCA4+_DentriticCells13.35
Bonemarrow5.75
BronchialEpithelialCells6.5
CD105+_Endothelial5.5
CD14+_Monocytes18.95
CD19+_BCells(neg._sel.)18.55
CD33+_Myeloid21.15
CD34+9.75
CD4+_Tcells8.95
CD56+_NKCells11.7
CD71+_EarlyErythroid5.25
CD8+_Tcells5.6
CardiacMyocytes8
Caudatenucleus39.65
Cerebellum4.65
CerebellumPeduncles6.6
CiliaryGanglion9.85
CingulateCortex35.45
Colorectaladenocarcinoma11.45
DorsalRootGanglion4.6
FetalThyroid5.55
Fetalbrain13.15
Fetalliver4.9
Fetallung4.35
GlobusPallidus23.6
Heart7.75
Hypothalamus5.8
Kidney5
Leukemia_chronicMyelogenousK-5624.3
Leukemia_promyelocytic-HL-604.35
Leukemialymphoblastic(MOLT-4)4.9
Liver7.55
Lung5.6
Lymphnode4.1
Lymphoma_burkitts(Daudi)7.25
Lymphoma_burkitts(Raji)7.95
MedullaOblongata21.05
OccipitalLobe31.75
OlfactoryBulb4.4
Ovary3.9
Pancreas4.75
PancreaticIslet5.95
ParietalLobe11.35
Pituitary6.4
Placenta5.35
Pons9.1
PrefrontalCortex132.5
Prostate6.55
Salivarygland4.6
SkeletalMuscle7
Skin4.5
SmoothMuscle20.25
Spinalcord5.9
SubthalamicNucleus32.7
SuperiorCervicalGanglion20.15
TemporalLobe38.75
Testis6.85
TestisGermCell4.5
TestisIntersitial7.3
TestisLeydigCell5.6
TestisSeminiferousTubule4.7
Thalamus6.45
Thymus7.55
Thyroid6.85
Tongue5.7
Tonsil5.5
Trachea4.95
TrigeminalGanglion15
Uterus4.9
UterusCorpus5.4
WholeBlood6.35
Wholebrain40.85
colon5.85
pineal_day6.64
pineal_night6.88
retina6.75
small_intestine5.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7765_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
Amygdala10.4 ± 0.7
Basal Forebrain10.4 ± 0.43
Basal Part of Pons10.27 ± 0.63
Cerebellar Cortex9.66 ± 0.45
Cerebellar Nuclei10.27 ± 0.52
Claustrum10.8 ± 0.62
Epithalamus9.64 ± 0.73
Frontal Lobe10.13 ± 0.58
Globus Pallidus10.68 ± 0.34
Hypothalamus10.14 ± 0.49
Insula10.05 ± 0.45
Limbic Lobe10.28 ± 0.59
Mesencephalon10.24 ± 0.54
Myelencephalon10.23 ± 0.6
Occipital Lobe10.16 ± 0.61
Parietal Lobe10.11 ± 0.53
Pontine Tegmentum10 ± 0.44
Striatum10.4 ± 0.55
Subthalamus9.83 ± 0.47
Temporal Lobe10.09 ± 0.59
Thalamus10.25 ± 0.46
White Matter10.26 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ppm2cCBCerebellum24.58
29.96
Ppm2cCTXCerebral cortex100
100
Ppm2cHIPHippocampal region28.53
43.89
Ppm2cHPFHippocampal formation36.58
42.85
Ppm2cHYHypothalamus36.91
26.03
Ppm2cLSXLateral septal complex77.37
68.86
Ppm2cMBMidbrain39.44
35.29
Ppm2cMYMedulla38.56
43.28
Ppm2cOLFOlfactory bulb69.72
87.47
Ppm2cPPons40.72
41.28
Ppm2cPALPallidum40.9
32.31
Ppm2cRHPRetrohippocampal region47.11
41.25
Ppm2csAMYStriatum-like amygdalar nuclei47.08
31.66
Ppm2cSTRStriatum100
100
Ppm2cSTRdStriatum dorsal region100
100
Ppm2cSTRvStriatum ventral region91.39
95.54
Ppm2cTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011359 9 128 136 SAATCLQTR 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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