AutismKB 2.0

Annotation Detail for PPP6R2


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Basic Information Top
Gene Symbol:PPP6R2 ( KIAA0685,PP6R2,SAP190,SAPS2,dJ579N16.1 )
Gene Full Name: protein phosphatase 6, regulatory subunit 2
Band: 22q13.33
Quick LinksEntrez ID:9701; OMIM: 610877; Uniprot ID:PP6R2_HUMAN; ENSEMBL ID: ENSG00000100239; HGNC ID: 19253
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 body7 / 7076198
blastocyst8 / 62319128
fetus21 / 56401237
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult163 / 193912184
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor8 / 9417884
cervical tumor2 / 3436658
chondrosarcoma19 / 82823229
colorectal tumor14 / 114246122
esophageal tumor0 / 172900 
gastrointestinal tumor13 / 119369108
germ cell tumor9 / 26384534
glioma6 / 10688356
head and neck tumor8 / 13630258
kidney tumor2 / 6895929
leukemia8 / 9584283
liver tumor9 / 9635993
lung tumor10 / 10312796
lymphoma3 / 7175541
non-neoplasia8 / 9725082
normal194 / 336030757
ovarian tumor4 / 7668252
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor13 / 124949104
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites8 / 40015199
bladder0 / 297570 
blood9 / 12347872
bone7 / 7165597
bone marrow0 / 488010 
brain46 / 110098941
cervix2 / 4817141
connective tissue10 / 14925566
ear1 / 1621261
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye14 / 21105466
heart2 / 8962622
intestine21 / 23447289
kidney8 / 21177737
larynx0 / 241450 
liver13 / 20774362
lung35 / 336974103
lymph1 / 4427022
lymph node10 / 91610109
mammary gland9 / 15327158
mouth4 / 6705259
muscle3 / 10771527
nerve0 / 157680 
ovary6 / 10205158
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta26 / 28082592
prostate13 / 18934568
salivary gland3 / 20155148
skin13 / 21057461
spleen1 / 5395218
stomach5 / 9661951
testis70 / 330442211
thymus5 / 8113161
thyroid2 / 4747342
tonsil3 / 16999176
trachea3 / 5241357
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202791_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts54.6
Adipocyte34.95
AdrenalCortex43.2
Adrenalgland30.35
Amygdala35.6
Appendix32.25
AtrioventricularNode27.55
BDCA4+_DentriticCells55.25
Bonemarrow36
BronchialEpithelialCells34.4
CD105+_Endothelial27.55
CD14+_Monocytes38.05
CD19+_BCells(neg._sel.)39.55
CD33+_Myeloid45.45
CD34+45.4
CD4+_Tcells62.05
CD56+_NKCells40.55
CD71+_EarlyErythroid36.35
CD8+_Tcells59.9
CardiacMyocytes52.55
Caudatenucleus32.5
Cerebellum31.7
CerebellumPeduncles41.4
CiliaryGanglion26.5
CingulateCortex39
Colorectaladenocarcinoma36.4
DorsalRootGanglion27.65
FetalThyroid48.05
Fetalbrain37.65
Fetalliver31.5
Fetallung28.85
GlobusPallidus25.7
Heart47.85
Hypothalamus35.75
Kidney26.9
Leukemia_chronicMyelogenousK-56230.05
Leukemia_promyelocytic-HL-6030.4
Leukemialymphoblastic(MOLT-4)31.2
Liver50.1
Lung56.35
Lymphnode29.1
Lymphoma_burkitts(Daudi)45.6
Lymphoma_burkitts(Raji)51.3
MedullaOblongata31
OccipitalLobe34.4
OlfactoryBulb29.05
Ovary27.6
Pancreas28.95
PancreaticIslet54.6
ParietalLobe47.35
Pituitary42.15
Placenta34.5
Pons34.15
PrefrontalCortex60.6
Prostate50.95
Salivarygland29.1
SkeletalMuscle45.65
Skin27.55
SmoothMuscle42.45
Spinalcord38.4
SubthalamicNucleus32.15
SuperiorCervicalGanglion44.5
TemporalLobe32.45
Testis55.75
TestisGermCell38.45
TestisIntersitial58.15
TestisLeydigCell64.9
TestisSeminiferousTubule70.2
Thalamus35.55
Thymus33.8
Thyroid42.8
Tongue41.7
Tonsil35.85
Trachea28.25
TrigeminalGanglion50.7
Uterus29.3
UterusCorpus32.3
WholeBlood38.4
Wholebrain48.6
colon32.95
pineal_day47.92
pineal_night50.18
retina43.225
small_intestine33.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P95353
  • 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
Amygdala5.82 ± 0.51
Basal Forebrain6.05 ± 0.26
Basal Part of Pons6.41 ± 0.43
Cerebellar Cortex6.54 ± 0.23
Cerebellar Nuclei5.73 ± 0.5
Claustrum5.8 ± 0.79
Epithalamus5.76 ± 0.36
Frontal Lobe6.2 ± 0.42
Globus Pallidus5.34 ± 0.2
Hypothalamus5.89 ± 0.66
Insula6.31 ± 0.24
Limbic Lobe6.03 ± 0.42
Mesencephalon5.89 ± 0.41
Myelencephalon6.07 ± 0.48
Occipital Lobe5.76 ± 0.46
Parietal Lobe6.1 ± 0.39
Pontine Tegmentum5.95 ± 0.57
Striatum5.41 ± 0.39
Subthalamus6.03 ± 0.41
Temporal Lobe6.28 ± 0.45
Thalamus6.04 ± 0.57
White Matter5.51 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Saps2CBCerebellum100
100
Saps2CTXCerebral cortex100
100
Saps2HIPHippocampal region100
100
Saps2HPFHippocampal formation100
100
Saps2HYHypothalamus100
100
Saps2LSXLateral septal complex100
100
Saps2MBMidbrain69.34
86.77
Saps2MYMedulla53.29
88.94
Saps2OLFOlfactory bulb100
100
Saps2PPons55.59
89.2
Saps2PALPallidum100
100
Saps2RHPRetrohippocampal region100
100
Saps2sAMYStriatum-like amygdalar nuclei100
100
Saps2STRStriatum100
100
Saps2STRdStriatum dorsal region100
100
Saps2STRvStriatum ventral region100
100
Saps2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001375 16 742 757 CSSPVDTECSHAEGSR 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