AutismKB 2.0

Annotation Detail for PPARGC1A


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Basic Information Top
Gene Symbol:PPARGC1A ( LEM6,PGC-1(alpha),PGC-1v,PGC1,PGC1A,PPARGC1 )
Gene Full Name: peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
Band: 4p15.2
Quick LinksEntrez ID:10891; OMIM: 604517; Uniprot ID:PRGC1_HUMAN; ENSEMBL ID: ENSG00000109819; HGNC ID: 9237
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 body0 / 707610 
blastocyst0 / 623190 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult38 / 193912119
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) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor6 / 9635962
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal76 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain19 / 110098917
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart3 / 8962633
intestine4 / 23447217
kidney20 / 21177794
larynx2 / 2414582
liver20 / 20774396
lung9 / 33697426
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219195_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.55
Adipocyte12.2
AdrenalCortex15.8
Adrenalgland10.8
Amygdala11.85
Appendix18.8
AtrioventricularNode21.05
BDCA4+_DentriticCells10.5
Bonemarrow13.55
BronchialEpithelialCells10.35
CD105+_Endothelial10.95
CD14+_Monocytes12.65
CD19+_BCells(neg._sel.)11.6
CD33+_Myeloid14.15
CD34+12.8
CD4+_Tcells11.65
CD56+_NKCells12.9
CD71+_EarlyErythroid11.95
CD8+_Tcells9.7
CardiacMyocytes22.2
Caudatenucleus10.8
Cerebellum10.05
CerebellumPeduncles15.4
CiliaryGanglion14.9
CingulateCortex13.1
Colorectaladenocarcinoma11.15
DorsalRootGanglion13
FetalThyroid14.35
Fetalbrain12.2
Fetalliver11.55
Fetallung9.3
GlobusPallidus12.05
Heart21.85
Hypothalamus23.35
Kidney13.05
Leukemia_chronicMyelogenousK-5629.85
Leukemia_promyelocytic-HL-6010.2
Leukemialymphoblastic(MOLT-4)8.05
Liver18.9
Lung12.6
Lymphnode8.85
Lymphoma_burkitts(Daudi)15.75
Lymphoma_burkitts(Raji)18.85
MedullaOblongata12.25
OccipitalLobe12.8
OlfactoryBulb8.85
Ovary10.3
Pancreas9.85
PancreaticIslet12.95
ParietalLobe18.9
Pituitary13.45
Placenta10.4
Pons16.6
PrefrontalCortex21.85
Prostate13.15
Salivarygland88.6
SkeletalMuscle24.75
Skin17.65
SmoothMuscle12.85
Spinalcord12.3
SubthalamicNucleus20.4
SuperiorCervicalGanglion20.85
TemporalLobe14.25
Testis9.5
TestisGermCell9.5
TestisIntersitial12.6
TestisLeydigCell12.65
TestisSeminiferousTubule9.5
Thalamus12.75
Thymus7.9
Thyroid64.3
Tongue19.45
Tonsil11.2
Trachea9.25
TrigeminalGanglion18.4
Uterus9
UterusCorpus11.75
WholeBlood11.5
Wholebrain9.8
colon13.2
pineal_day15.04
pineal_night14.56
retina15.775
small_intestine12.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P303052
  • 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
Amygdala6.17 ± 0.58
Basal Forebrain6.04 ± 0.21
Basal Part of Pons5.3 ± 0.36
Cerebellar Cortex5.95 ± 0.54
Cerebellar Nuclei6.67 ± 0.24
Claustrum5.96 ± 0.47
Epithalamus6.49 ± 0.56
Frontal Lobe5.93 ± 0.52
Globus Pallidus6.34 ± 0.36
Hypothalamus5.41 ± 0.49
Insula5.78 ± 0.48
Limbic Lobe5.8 ± 0.54
Mesencephalon6.08 ± 0.59
Myelencephalon6.06 ± 0.61
Occipital Lobe6.75 ± 0.53
Parietal Lobe6.34 ± 0.43
Pontine Tegmentum6.29 ± 0.56
Striatum6.52 ± 0.41
Subthalamus6.6 ± 0.22
Temporal Lobe5.78 ± 0.55
Thalamus6.39 ± 0.6
White Matter3.78 ± 0.55
Mouse Brain ISH
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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