AutismKB 2.0

Annotation Detail for PNPLA7


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Basic Information Top
Gene Symbol:PNPLA7 ( C9orf111,FLJ31318,FLJ43070,FLJ44279,NTE-R1,NTEL1 )
Gene Full Name: patatin-like phospholipase domain containing 7
Band: 9q34.3
Quick LinksEntrez ID:375775; OMIM: 612122; Uniprot ID:PLPL7_HUMAN; ENSEMBL ID: ENSG00000130653; HGNC ID: 24768
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 
blastocyst1 / 6231916
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult29 / 193912114
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 tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal61 / 336030718
ovarian tumor2 / 7668226
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
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 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain26 / 110098923
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine3 / 23447212
kidney1 / 2117774
larynx0 / 241450 
liver2 / 2077439
lung13 / 33697438
lymph0 / 442700 
lymph node11 / 91610120
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach5 / 9661951
testis0 / 3304420 
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P43455
  • 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
Amygdala6.42 ± 0.43
Basal Forebrain6.37 ± 0.2
Basal Part of Pons6.46 ± 0.3
Cerebellar Cortex6.08 ± 0.3
Cerebellar Nuclei6.09 ± 0.38
Claustrum6.21 ± 0.46
Epithalamus6.3 ± 0.3
Frontal Lobe6.26 ± 0.41
Globus Pallidus6.23 ± 0.16
Hypothalamus6.17 ± 0.27
Insula6.4 ± 0.4
Limbic Lobe6.38 ± 0.52
Mesencephalon6.22 ± 0.35
Myelencephalon6.35 ± 0.36
Occipital Lobe6.5 ± 0.39
Parietal Lobe6.37 ± 0.3
Pontine Tegmentum6.3 ± 0.45
Striatum6.79 ± 0.33
Subthalamus5.94 ± 0.2
Temporal Lobe6.45 ± 0.33
Thalamus6.44 ± 0.3
White Matter6.9 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pnpla7CBCerebellum17.97
22.63
Pnpla7CTXCerebral cortex28.81
19.32
Pnpla7HIPHippocampal region23.12
21.57
Pnpla7HPFHippocampal formation28.19
24.17
Pnpla7HYHypothalamus9.67
6.91
Pnpla7LSXLateral septal complex1.68
1.11
Pnpla7MBMidbrain13.66
12.68
Pnpla7MYMedulla28.64
30.86
Pnpla7OLFOlfactory bulb26.76
19.17
Pnpla7PPons25.81
26.05
Pnpla7PALPallidum22.7
21.28
Pnpla7RHPRetrohippocampal region36.89
27.72
Pnpla7sAMYStriatum-like amygdalar nuclei14.68
10.55
Pnpla7STRStriatum13.62
9.79
Pnpla7STRdStriatum dorsal region15.02
10.97
Pnpla7STRvStriatum ventral region9.93
6.38
Pnpla7THThalamus17.19
12.99
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