AutismKB 2.0

Annotation Detail for PNPLA4


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Basic Information Top
Gene Symbol:PNPLA4 ( DXS1283E,GS2 )
Gene Full Name: patatin-like phospholipase domain containing 4
Band: Xp22.31
Quick LinksEntrez ID:8228; OMIM: 300102; Uniprot ID:PLPL4_HUMAN; ENSEMBL ID: ENSG00000006757; HGNC ID: 24887
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
blastocyst1 / 6231916
fetus15 / 56401226
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult51 / 193912126
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) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal70 / 336030720
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood2 / 12347816
bone3 / 7165541
bone marrow0 / 488010 
brain30 / 110098927
cervix4 / 4817183
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye7 / 21105433
heart4 / 8962644
intestine2 / 2344728
kidney3 / 21177714
larynx0 / 241450 
liver8 / 20774338
lung20 / 33697459
lymph1 / 4427022
lymph node0 / 916100 
mammary gland5 / 15327132
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid6 / 20539292
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate5 / 18934526
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis5 / 33044215
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209740_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.05
Adipocyte6.3
AdrenalCortex8.85
Adrenalgland12.4
Amygdala10.45
Appendix7.1
AtrioventricularNode5.4
BDCA4+_DentriticCells6
Bonemarrow6.8
BronchialEpithelialCells6.45
CD105+_Endothelial6.4
CD14+_Monocytes6.65
CD19+_BCells(neg._sel.)6.95
CD33+_Myeloid7.2
CD34+7.95
CD4+_Tcells6.55
CD56+_NKCells6.75
CD71+_EarlyErythroid6
CD8+_Tcells5.4
CardiacMyocytes9.8
Caudatenucleus7.45
Cerebellum5.55
CerebellumPeduncles7.55
CiliaryGanglion5.05
CingulateCortex7.05
Colorectaladenocarcinoma6.4
DorsalRootGanglion5.35
FetalThyroid7.05
Fetalbrain6.15
Fetalliver6.2
Fetallung4.9
GlobusPallidus4.95
Heart9.3
Hypothalamus9.5
Kidney12.85
Leukemia_chronicMyelogenousK-5625.8
Leukemia_promyelocytic-HL-605.75
Leukemialymphoblastic(MOLT-4)5.05
Liver13.65
Lung7.2
Lymphnode5.2
Lymphoma_burkitts(Daudi)8.6
Lymphoma_burkitts(Raji)9.65
MedullaOblongata8.95
OccipitalLobe6.05
OlfactoryBulb5.8
Ovary4.55
Pancreas5.45
PancreaticIslet7.25
ParietalLobe7
Pituitary10.55
Placenta6.5
Pons9
PrefrontalCortex12.6
Prostate8.85
Salivarygland5
SkeletalMuscle8.4
Skin5.95
SmoothMuscle7.05
Spinalcord9.25
SubthalamicNucleus6.6
SuperiorCervicalGanglion8.45
TemporalLobe6.2
Testis5.5
TestisGermCell5.8
TestisIntersitial5.35
TestisLeydigCell6.65
TestisSeminiferousTubule5.45
Thalamus8.25
Thymus4.85
Thyroid15.9
Tongue6.75
Tonsil6.4
Trachea5.35
TrigeminalGanglion6.6
Uterus5
UterusCorpus6.4
WholeBlood6.95
Wholebrain12.1
colon6.65
pineal_day16.38
pineal_night9.44
retina13.925
small_intestine6.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P159797
  • 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
Amygdala7.65 ± 0.4
Basal Forebrain7.88 ± 0.1
Basal Part of Pons7.83 ± 0.2
Cerebellar Cortex7.56 ± 0.12
Cerebellar Nuclei7.92 ± 0.24
Claustrum7.39 ± 0.29
Epithalamus8.41 ± 0.23
Frontal Lobe7.83 ± 0.2
Globus Pallidus8.41 ± 0.19
Hypothalamus8.18 ± 0.22
Insula7.83 ± 0.19
Limbic Lobe7.67 ± 0.26
Mesencephalon7.83 ± 0.33
Myelencephalon7.81 ± 0.29
Occipital Lobe7.46 ± 0.31
Parietal Lobe7.76 ± 0.25
Pontine Tegmentum7.86 ± 0.27
Striatum8.24 ± 0.18
Subthalamus7.87 ± 0.19
Temporal Lobe7.82 ± 0.22
Thalamus7.81 ± 0.21
White Matter7.15 ± 0.09
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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