AutismKB 2.0

Annotation Detail for PNPLA8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PNPLA8 ( IPLA2(GAMMA),IPLA2-2,IPLA2G )
Gene Full Name: patatin-like phospholipase domain containing 8
Band: 7q31.1
Quick LinksEntrez ID:50640; OMIM: 612123; Uniprot ID:PLPL8_HUMAN; ENSEMBL ID: ENSG00000135241; HGNC ID: 28900
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 
blastocyst2 / 6231932
fetus50 / 56401288
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult88 / 193912145
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor28 / 263845106
glioma0 / 1068830 
head and neck tumor10 / 13630273
kidney tumor6 / 6895987
leukemia1 / 9584210
liver tumor7 / 9635972
lung tumor1 / 1031279
lymphoma5 / 7175569
non-neoplasia11 / 97250113
normal240 / 336030771
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites2 / 4001549
bladder2 / 2975767
blood10 / 12347880
bone2 / 7165527
bone marrow1 / 4880120
brain142 / 1100989128
cervix2 / 4817141
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye12 / 21105456
heart2 / 8962622
intestine14 / 23447259
kidney14 / 21177766
larynx0 / 241450 
liver13 / 20774362
lung14 / 33697441
lymph3 / 4427067
lymph node3 / 9161032
mammary gland5 / 15327132
mouth10 / 67052149
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas1 / 2148124
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta19 / 28082567
prostate3 / 18934515
salivary gland0 / 201550 
skin3 / 21057414
spleen4 / 5395274
stomach5 / 9661951
testis35 / 330442105
thymus12 / 81131147
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus12 / 23287851
vascular8 / 51780154
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P85045
  • 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
Amygdala6.46 ± 0.52
Basal Forebrain6.38 ± 0.21
Basal Part of Pons6.33 ± 0.23
Cerebellar Cortex5.96 ± 0.27
Cerebellar Nuclei6.02 ± 0.57
Claustrum5.9 ± 0.69
Epithalamus6.52 ± 0.47
Frontal Lobe6.35 ± 0.38
Globus Pallidus6.29 ± 0.46
Hypothalamus6.55 ± 0.21
Insula6.33 ± 0.25
Limbic Lobe6.21 ± 0.51
Mesencephalon6.29 ± 0.41
Myelencephalon6.26 ± 0.46
Occipital Lobe6.32 ± 0.49
Parietal Lobe6.37 ± 0.37
Pontine Tegmentum6.32 ± 0.44
Striatum6.49 ± 0.31
Subthalamus6.01 ± 0.97
Temporal Lobe6.27 ± 0.5
Thalamus6.27 ± 0.46
White Matter6.05 ± 0.2
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011119 19 582 600 NYGHFPGINSHYLGGCQYK 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