AutismKB 2.0

Annotation Detail for PPEF2


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Basic Information Top
Gene Symbol:PPEF2 ( PPP7CB )
Gene Full Name: protein phosphatase, EF-hand calcium binding domain 2
Band: 4q21.1
Quick LinksEntrez ID:5470; OMIM: 602256; Uniprot ID:PPE2_HUMAN; ENSEMBL ID: ENSG00000156194; HGNC ID: 9244
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 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult11 / 19391215
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal16 / 33603074
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
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: 208411_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.45
Adipocyte7.75
AdrenalCortex10.6
Adrenalgland7.1
Amygdala7.55
Appendix10.9
AtrioventricularNode10.45
BDCA4+_DentriticCells7.9
Bonemarrow8.65
BronchialEpithelialCells7.55
CD105+_Endothelial7.8
CD14+_Monocytes8.4
CD19+_BCells(neg._sel.)8.2
CD33+_Myeloid9.7
CD34+9.1
CD4+_Tcells8.15
CD56+_NKCells8.85
CD71+_EarlyErythroid7.6
CD8+_Tcells6.9
CardiacMyocytes15.35
Caudatenucleus7.15
Cerebellum6.6
CerebellumPeduncles9.8
CiliaryGanglion7.9
CingulateCortex8.45
Colorectaladenocarcinoma7.85
DorsalRootGanglion7.5
FetalThyroid8
Fetalbrain7.65
Fetalliver7.05
Fetallung6
GlobusPallidus6.55
Heart12.05
Hypothalamus8.3
Kidney7.65
Leukemia_chronicMyelogenousK-5627.2
Leukemia_promyelocytic-HL-606.95
Leukemialymphoblastic(MOLT-4)6.15
Liver11.95
Lung8.65
Lymphnode6.55
Lymphoma_burkitts(Daudi)10.6
Lymphoma_burkitts(Raji)12.35
MedullaOblongata7.15
OccipitalLobe7.05
OlfactoryBulb6.2
Ovary6.05
Pancreas6.75
PancreaticIslet8.7
ParietalLobe8.95
Pituitary9.25
Placenta7.6
Pons8
PrefrontalCortex9.25
Prostate8.8
Salivarygland6.75
SkeletalMuscle11.95
Skin7.8
SmoothMuscle9
Spinalcord8.4
SubthalamicNucleus8
SuperiorCervicalGanglion13.65
TemporalLobe7.6
Testis6.85
TestisGermCell6.35
TestisIntersitial7.95
TestisLeydigCell8.4
TestisSeminiferousTubule6.95
Thalamus8.3
Thymus6.1
Thyroid9.25
Tongue9.7
Tonsil8.1
Trachea6.65
TrigeminalGanglion11
Uterus6
UterusCorpus8.35
WholeBlood8.65
Wholebrain6
colon7.8
pineal_day10.06
pineal_night9.76
retina112.25
small_intestine7.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7894_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
Amygdala2.23 ± 1.02
Basal Forebrain1.83 ± 0.19
Basal Part of Pons1.54 ± 0.39
Cerebellar Cortex1.63 ± 0.56
Cerebellar Nuclei2.13 ± 0.79
Claustrum2.68 ± 0.91
Epithalamus1.56 ± 0.71
Frontal Lobe1.63 ± 0.67
Globus Pallidus2.4 ± 0.38
Hypothalamus1.99 ± 0.94
Insula1.71 ± 0.58
Limbic Lobe1.78 ± 0.59
Mesencephalon1.95 ± 0.68
Myelencephalon1.8 ± 0.67
Occipital Lobe1.83 ± 0.49
Parietal Lobe1.77 ± 0.67
Pontine Tegmentum1.83 ± 0.73
Striatum1.98 ± 0.59
Subthalamus1.88 ± 0.62
Temporal Lobe1.73 ± 0.71
Thalamus1.78 ± 0.61
White Matter2.41 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ppef2CBCerebellum0.14
0.55
Ppef2CTXCerebral cortex0.31
0.46
Ppef2HIPHippocampal region0.05
0.1
Ppef2HPFHippocampal formation0.06
0.12
Ppef2HYHypothalamus0.16
0.29
Ppef2LSXLateral septal complex0
0
Ppef2MBMidbrain0.2
0.62
Ppef2MYMedulla0.02
0.06
Ppef2OLFOlfactory bulb0.29
2.15
Ppef2PPons0.04
0.08
Ppef2PALPallidum0.07
0.17
Ppef2RHPRetrohippocampal region0.06
0.17
Ppef2sAMYStriatum-like amygdalar nuclei0.08
0.05
Ppef2STRStriatum0.02
0.01
Ppef2STRdStriatum dorsal region0.01
0.01
Ppef2STRvStriatum ventral region0.02
0.01
Ppef2THThalamus0.12
0.2
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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