AutismKB 2.0

Annotation Detail for PNPLA3


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Basic Information Top
Gene Symbol:PNPLA3 ( ADPN,C22orf20,iPLA(2)epsilon )
Gene Full Name: patatin-like phospholipase domain containing 3
Band: 22q13.31
Quick LinksEntrez ID:80339; OMIM: 609567; Uniprot ID:PLPL3_HUMAN; ENSEMBL ID: ENSG00000100344; HGNC ID: 18590
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 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult22 / 193912111
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal25 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor12 / 12494996
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone0 / 716550 
bone marrow0 / 488010 
brain11 / 11009899
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine12 / 23447251
kidney3 / 21177714
larynx0 / 241450 
liver3 / 20774314
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin13 / 21057461
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: 220675_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.25
Adipocyte5.65
AdrenalCortex7.1
Adrenalgland4.7
Amygdala5.6
Appendix5.55
AtrioventricularNode13.75
BDCA4+_DentriticCells5.4
Bonemarrow6
BronchialEpithelialCells6.05
CD105+_Endothelial5.5
CD14+_Monocytes5.5
CD19+_BCells(neg._sel.)5.95
CD33+_Myeloid6.5
CD34+7.05
CD4+_Tcells5.85
CD56+_NKCells6.1
CD71+_EarlyErythroid5.2
CD8+_Tcells5.05
CardiacMyocytes7.25
Caudatenucleus4.95
Cerebellum4.55
CerebellumPeduncles6.5
CiliaryGanglion4.25
CingulateCortex5.7
Colorectaladenocarcinoma5.6
DorsalRootGanglion4.5
FetalThyroid6
Fetalbrain6.35
Fetalliver4.9
Fetallung4.55
GlobusPallidus4.55
Heart6.9
Hypothalamus6.05
Kidney5.45
Leukemia_chronicMyelogenousK-5624.95
Leukemia_promyelocytic-HL-604.8
Leukemialymphoblastic(MOLT-4)4.45
Liver8.6
Lung6
Lymphnode5.3
Lymphoma_burkitts(Daudi)7.2
Lymphoma_burkitts(Raji)7.95
MedullaOblongata4.85
OccipitalLobe5
OlfactoryBulb4.3
Ovary3.7
Pancreas4.5
PancreaticIslet5.95
ParietalLobe5.95
Pituitary6.55
Placenta5.45
Pons6.05
PrefrontalCortex6.75
Prostate6.25
Salivarygland4.5
SkeletalMuscle7
Skin4.7
SmoothMuscle6.15
Spinalcord6
SubthalamicNucleus5
SuperiorCervicalGanglion6.9
TemporalLobe5.05
Testis4.8
TestisGermCell4.6
TestisIntersitial4.65
TestisLeydigCell5.5
TestisSeminiferousTubule5.9
Thalamus5.8
Thymus4.15
Thyroid6.85
Tongue5.75
Tonsil5.5
Trachea4.65
TrigeminalGanglion5.8
Uterus4.35
UterusCorpus5.1
WholeBlood5.95
Wholebrain4.9
colon5.35
pineal_day14.88
pineal_night13.36
retina7.625
small_intestine5.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_17022_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
Amygdala5.73 ± 0.51
Basal Forebrain5.57 ± 0.34
Basal Part of Pons5.49 ± 0.34
Cerebellar Cortex5.24 ± 0.47
Cerebellar Nuclei5.63 ± 0.3
Claustrum6.08 ± 0.57
Epithalamus4.98 ± 0.69
Frontal Lobe5.62 ± 0.47
Globus Pallidus5.56 ± 0.34
Hypothalamus5.39 ± 0.54
Insula5.48 ± 0.45
Limbic Lobe5.61 ± 0.46
Mesencephalon5.62 ± 0.42
Myelencephalon5.6 ± 0.51
Occipital Lobe5.4 ± 0.5
Parietal Lobe5.49 ± 0.47
Pontine Tegmentum5.49 ± 0.44
Striatum5.66 ± 0.52
Subthalamus5.5 ± 0.15
Temporal Lobe5.52 ± 0.52
Thalamus5.65 ± 0.44
White Matter5.5 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pnpla3RHPRetrohippocampal region17.89
13.45
Pnpla3sAMYStriatum-like amygdalar nuclei30.11
22.51
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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