AutismKB 2.0

Annotation Detail for PPARA


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Basic Information Top
Gene Symbol:PPARA ( MGC2237,MGC2452,NR1C1,PPAR,PPARalpha,hPPAR )
Gene Full Name: peroxisome proliferator-activated receptor alpha
Band: 22q13.31
Quick LinksEntrez ID:5465; OMIM: 170998; Uniprot ID:PPARA_HUMAN; ENSEMBL ID: ENSG00000186951; HGNC ID: 9232
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 body2 / 7076128
blastocyst0 / 623190 
fetus36 / 56401263
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult66 / 193912134
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult0 / 19391210 
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor4 / 26384515
glioma8 / 10688374
head and neck tumor2 / 13630214
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor6 / 9635962
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal95 / 336030728
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor1 / 9025711
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal3 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites1 / 4001524
bladder1 / 2975733
blood1 / 1234788
bone3 / 7165541
bone marrow1 / 4880120
brain21 / 110098919
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye3 / 21105414
heart3 / 8962633
intestine14 / 23447259
kidney12 / 21177756
larynx0 / 241450 
liver15 / 20774372
lung9 / 33697426
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth2 / 6705229
muscle14 / 107715129
nerve1 / 1576863
ovary1 / 1020519
pancreas1 / 2148124
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta6 / 28082521
prostate0 / 1893450 
salivary gland0 / 201550 
skin6 / 21057428
spleen1 / 5395218
stomach1 / 9661910
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart3 / 8962633
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206870_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.8
Adipocyte6
AdrenalCortex7.25
Adrenalgland5.35
Amygdala6.1
Appendix6.6
AtrioventricularNode5.55
BDCA4+_DentriticCells6.2
Bonemarrow6.4
BronchialEpithelialCells5.95
CD105+_Endothelial8.35
CD14+_Monocytes6.4
CD19+_BCells(neg._sel.)6.25
CD33+_Myeloid7.4
CD34+8.45
CD4+_Tcells6.2
CD56+_NKCells6.95
CD71+_EarlyErythroid5.8
CD8+_Tcells5.65
CardiacMyocytes8.45
Caudatenucleus5.45
Cerebellum4.95
CerebellumPeduncles7.25
CiliaryGanglion5.05
CingulateCortex6.35
Colorectaladenocarcinoma6.1
DorsalRootGanglion5.05
FetalThyroid6
Fetalbrain5.85
Fetalliver5.45
Fetallung4.9
GlobusPallidus4.7
Heart8.75
Hypothalamus6.5
Kidney5.3
Leukemia_chronicMyelogenousK-5625.5
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)4.7
Liver8.6
Lung6.6
Lymphnode5
Lymphoma_burkitts(Daudi)8
Lymphoma_burkitts(Raji)8.9
MedullaOblongata5.5
OccipitalLobe5.45
OlfactoryBulb4.8
Ovary4.55
Pancreas5.1
PancreaticIslet6.6
ParietalLobe6.65
Pituitary7.1
Placenta6.2
Pons5.85
PrefrontalCortex7.3
Prostate6.95
Salivarygland5
SkeletalMuscle8.15
Skin5.1
SmoothMuscle6.8
Spinalcord6.5
SubthalamicNucleus5.7
SuperiorCervicalGanglion8
TemporalLobe5.75
Testis5.2
TestisGermCell4.95
TestisIntersitial5.2
TestisLeydigCell6.3
TestisSeminiferousTubule5.3
Thalamus6.3
Thymus4.55
Thyroid7.3
Tongue6.55
Tonsil5.95
Trachea5.05
TrigeminalGanglion6.75
Uterus4.85
UterusCorpus5.75
WholeBlood6.6
Wholebrain4.9
colon6.1
pineal_day7.34
pineal_night7.28
retina7.3
small_intestine5.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P211643
  • 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
Amygdala3.43 ± 1.05
Basal Forebrain2.94 ± 0.63
Basal Part of Pons2.77 ± 0.58
Cerebellar Cortex2.76 ± 0.57
Cerebellar Nuclei3.19 ± 0.69
Claustrum3.34 ± 0.6
Epithalamus3.78 ± 0.39
Frontal Lobe3.11 ± 0.77
Globus Pallidus4.74 ± 0.48
Hypothalamus2.98 ± 0.73
Insula2.82 ± 0.8
Limbic Lobe3 ± 0.78
Mesencephalon3.57 ± 0.87
Myelencephalon3.18 ± 0.79
Occipital Lobe3.24 ± 0.66
Parietal Lobe3.12 ± 0.82
Pontine Tegmentum3.2 ± 0.67
Striatum3.57 ± 0.79
Subthalamus2.86 ± 0.8
Temporal Lobe2.99 ± 0.73
Thalamus3.38 ± 0.58
White Matter4.95 ± 0.32
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