AutismKB 2.0

Annotation Detail for PPA2


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Basic Information Top
Gene Symbol:PPA2 ( FLJ20459,MGC49850,SID6-306 )
Gene Full Name: pyrophosphatase (inorganic) 2
Band: 4q24
Quick LinksEntrez ID:27068; OMIM: 609988; Uniprot ID:IPYR2_HUMAN; ENSEMBL ID: ENSG00000138777; HGNC ID: 28883
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 body12 / 70761169
blastocyst1 / 6231916
fetus37 / 56401265
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult99 / 193912151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor9 / 11936975
germ cell tumor10 / 26384537
glioma13 / 106883121
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor7 / 9635972
lung tumor2 / 10312719
lymphoma6 / 7175583
non-neoplasia8 / 9725082
normal186 / 336030755
ovarian tumor1 / 7668213
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor21 / 125191167
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder6 / 29757201
blood7 / 12347856
bone4 / 7165555
bone marrow5 / 48801102
brain58 / 110098952
cervix2 / 4817141
connective tissue14 / 14925593
ear2 / 16212123
embryonic tissue19 / 21572288
esophagus2 / 2020998
eye10 / 21105447
heart6 / 8962666
intestine19 / 23447281
kidney24 / 211777113
larynx0 / 241450 
liver12 / 20774357
lung15 / 33697444
lymph0 / 442700 
lymph node5 / 9161054
mammary gland6 / 15327139
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas10 / 21481246
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta10 / 28082535
prostate10 / 18934552
salivary gland0 / 201550 
skin7 / 21057433
spleen4 / 5395274
stomach9 / 9661993
testis15 / 33044245
thymus6 / 8113173
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus14 / 23287860
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220741_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts801.45
Adipocyte130.4
AdrenalCortex90.9
Adrenalgland97.05
Amygdala103.35
Appendix73.75
AtrioventricularNode57.3
BDCA4+_DentriticCells443.8
Bonemarrow114.2
BronchialEpithelialCells764.25
CD105+_Endothelial1133.25
CD14+_Monocytes276.75
CD19+_BCells(neg._sel.)269.75
CD33+_Myeloid416.2
CD34+995.8
CD4+_Tcells165.6
CD56+_NKCells323.85
CD71+_EarlyErythroid282.85
CD8+_Tcells169.5
CardiacMyocytes78.7
Caudatenucleus74.5
Cerebellum35.35
CerebellumPeduncles67.45
CiliaryGanglion41.75
CingulateCortex94
Colorectaladenocarcinoma69.65
DorsalRootGanglion51.05
FetalThyroid171.55
Fetalbrain60.15
Fetalliver68.8
Fetallung104.4
GlobusPallidus55.3
Heart91.55
Hypothalamus160.3
Kidney128.8
Leukemia_chronicMyelogenousK-56298.9
Leukemia_promyelocytic-HL-60123.95
Leukemialymphoblastic(MOLT-4)246.25
Liver84.8
Lung131.15
Lymphnode84.1
Lymphoma_burkitts(Daudi)106.05
Lymphoma_burkitts(Raji)84.9
MedullaOblongata70.1
OccipitalLobe69.3
OlfactoryBulb59
Ovary56.4
Pancreas111.1
PancreaticIslet125.75
ParietalLobe92.5
Pituitary165.55
Placenta44.95
Pons73.6
PrefrontalCortex116.1
Prostate298.7
Salivarygland124
SkeletalMuscle76.7
Skin70.65
SmoothMuscle199.3
Spinalcord100.7
SubthalamicNucleus78.25
SuperiorCervicalGanglion62.85
TemporalLobe84.3
Testis58.4
TestisGermCell53.75
TestisIntersitial70.35
TestisLeydigCell61.1
TestisSeminiferousTubule56
Thalamus102.75
Thymus66.5
Thyroid310.15
Tongue99.15
Tonsil126.3
Trachea164.85
TrigeminalGanglion50.3
Uterus94.75
UterusCorpus45.55
WholeBlood88.85
Wholebrain132.55
colon455.6
pineal_day280.84
pineal_night295.32
retina163.575
small_intestine495.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7729_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
Amygdala6.61 ± 0.58
Basal Forebrain6.59 ± 0.18
Basal Part of Pons6.72 ± 0.4
Cerebellar Cortex6.77 ± 0.41
Cerebellar Nuclei6.53 ± 0.48
Claustrum5.97 ± 0.87
Epithalamus6.96 ± 0.34
Frontal Lobe6.92 ± 0.43
Globus Pallidus7.02 ± 0.35
Hypothalamus6.96 ± 0.28
Insula6.88 ± 0.33
Limbic Lobe6.37 ± 0.65
Mesencephalon6.67 ± 0.43
Myelencephalon6.61 ± 0.59
Occipital Lobe6.12 ± 0.52
Parietal Lobe6.83 ± 0.44
Pontine Tegmentum6.75 ± 0.58
Striatum6.36 ± 0.42
Subthalamus6.84 ± 0.26
Temporal Lobe6.84 ± 0.41
Thalamus6.78 ± 0.51
White Matter6.89 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ppa2CBCerebellum66.2
100
Ppa2CTXCerebral cortex100
100
Ppa2HIPHippocampal region100
100
Ppa2HPFHippocampal formation100
100
Ppa2HYHypothalamus100
100
Ppa2LSXLateral septal complex100
100
Ppa2MBMidbrain100
100
Ppa2MYMedulla86.23
100
Ppa2OLFOlfactory bulb100
100
Ppa2PPons93.37
100
Ppa2PALPallidum100
100
Ppa2RHPRetrohippocampal region100
100
Ppa2sAMYStriatum-like amygdalar nuclei100
100
Ppa2STRStriatum100
100
Ppa2STRdStriatum dorsal region100
100
Ppa2STRvStriatum ventral region100
100
Ppa2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
IPYR2_HUMAN_0 0 0 0 ARNDEYENLFNMIVEIPR PRIDE
IPYR2_HUMAN_0 0 0 0 ILGILALIDEGETDWK PRIDE
IPYR2_HUMAN_0 0 0 0 LIAINANDPEASK PRIDE
IPYR2_HUMAN_127 9 127 135 YVANIFPYK PRIDE
IPYR2_HUMAN_176 11 176 186 ILSCGEVIHVK PRIDE
IPYR2_HUMAN_187 16 187 202 ILGILALIDEGETDWK PRIDE
IPYR2_HUMAN_203 13 203 215 LIAINANDPEASK PRIDE
IPYR2_HUMAN_203 22 203 224 LIAINANDPEASKFHDIDDVKK PRIDE
IPYR2_HUMAN_225 14 225 238 FKPGYLEATLNWFR PRIDE
IPYR2_HUMAN_53 16 53 68 NVTGHYISPFHDIPLK PRIDE
IPYR2_HUMAN_82 18 82 99 ARNDEYENLFNMIVEIPR PRIDE
PAp00003941 11 148 158 ILSCGEVIHVK 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


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