AutismKB 2.0

Annotation Detail for PPP6R3


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Basic Information Top
Gene Symbol:PPP6R3 ( C11orf23,DKFZp781E17107,DKFZp781E2374,DKFZp781O2362,FLJ11058,FLJ43065,KIAA1558,MGC125711,MGC125712,PP6R3,SAP190,SAPL,SAPLa,SAPS3 )
Gene Full Name: protein phosphatase 6, regulatory subunit 3
Band: 11q13
Quick LinksEntrez ID:55291; OMIM: 610879; Uniprot ID:PP6R3_HUMAN; ENSEMBL ID: ENSG00000110075; HGNC ID: 1173
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 body11 / 70761155
blastocyst7 / 62319112
fetus40 / 56401270
neonate0 / 310970 
infant1 / 2362042
juvenile8 / 55556143
adult149 / 193912176
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor3 / 3436687
chondrosarcoma7 / 8282384
colorectal tumor9 / 11424678
esophageal tumor2 / 17290115
gastrointestinal tumor6 / 11936950
germ cell tumor25 / 26384594
glioma4 / 10688337
head and neck tumor21 / 136302154
kidney tumor3 / 6895943
leukemia14 / 95842146
liver tumor10 / 96359103
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia6 / 9725061
normal225 / 336030766
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer4 / 10268038
retinoblastoma6 / 46356129
skin tumor9 / 12494972
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites4 / 4001599
bladder1 / 2975733
blood8 / 12347864
bone3 / 7165541
bone marrow9 / 48801184
brain68 / 110098961
cervix3 / 4817162
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue25 / 215722115
esophagus2 / 2020998
eye13 / 21105461
heart9 / 89626100
intestine17 / 23447272
kidney5 / 21177723
larynx4 / 24145165
liver14 / 20774367
lung26 / 33697477
lymph0 / 442700 
lymph node21 / 91610229
mammary gland6 / 15327139
mouth12 / 67052178
muscle9 / 10771583
nerve2 / 15768126
ovary5 / 10205148
pancreas2 / 2148129
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta29 / 280825103
prostate8 / 18934542
salivary gland1 / 2015549
skin9 / 21057442
spleen1 / 5395218
stomach5 / 9661951
testis43 / 330442130
thymus10 / 81131123
thyroid7 / 47473147
tonsil2 / 16999117
trachea16 / 52413305
umbilical cord0 / 136800 
uterus36 / 232878154
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217928_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts159.55
Adipocyte128.85
AdrenalCortex147.6
Adrenalgland105.1
Amygdala56.55
Appendix190.4
AtrioventricularNode96.45
BDCA4+_DentriticCells163.5
Bonemarrow145.15
BronchialEpithelialCells128.9
CD105+_Endothelial171.1
CD14+_Monocytes297.05
CD19+_BCells(neg._sel.)172.35
CD33+_Myeloid216.85
CD34+241.35
CD4+_Tcells330.6
CD56+_NKCells228.9
CD71+_EarlyErythroid218.7
CD8+_Tcells304.05
CardiacMyocytes228.95
Caudatenucleus103.75
Cerebellum124.35
CerebellumPeduncles188.95
CiliaryGanglion88
CingulateCortex130
Colorectaladenocarcinoma213.8
DorsalRootGanglion122.15
FetalThyroid343.3
Fetalbrain146.8
Fetalliver96.7
Fetallung124
GlobusPallidus80.15
Heart132.95
Hypothalamus145.7
Kidney95.6
Leukemia_chronicMyelogenousK-562137.7
Leukemia_promyelocytic-HL-60118.15
Leukemialymphoblastic(MOLT-4)166.05
Liver128.7
Lung97.45
Lymphnode153.15
Lymphoma_burkitts(Daudi)215.25
Lymphoma_burkitts(Raji)199.75
MedullaOblongata110.1
OccipitalLobe119.3
OlfactoryBulb103.8
Ovary103.75
Pancreas109
PancreaticIslet141.5
ParietalLobe139.85
Pituitary234.5
Placenta127.15
Pons129.65
PrefrontalCortex118.85
Prostate158.85
Salivarygland125.5
SkeletalMuscle193.55
Skin119.05
SmoothMuscle173.75
Spinalcord115.55
SubthalamicNucleus104.25
SuperiorCervicalGanglion156.7
TemporalLobe113.2
Testis78.1
TestisGermCell125.25
TestisIntersitial116.4
TestisLeydigCell157.7
TestisSeminiferousTubule146.5
Thalamus144.2
Thymus106
Thyroid148.15
Tongue188.65
Tonsil173.95
Trachea103.3
TrigeminalGanglion141.6
Uterus111.5
UterusCorpus148.95
WholeBlood146.45
Wholebrain79.6
colon110.7
pineal_day209.84
pineal_night180.78
retina140.85
small_intestine83.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P261488
  • 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
Amygdala5.09 ± 0.68
Basal Forebrain4.91 ± 0.19
Basal Part of Pons4.96 ± 0.33
Cerebellar Cortex5.24 ± 0.29
Cerebellar Nuclei5.19 ± 0.47
Claustrum5.11 ± 0.76
Epithalamus4.92 ± 0.36
Frontal Lobe4.96 ± 0.38
Globus Pallidus5.35 ± 0.23
Hypothalamus5.15 ± 0.26
Insula4.94 ± 0.34
Limbic Lobe4.93 ± 0.31
Mesencephalon5.16 ± 0.4
Myelencephalon4.98 ± 0.39
Occipital Lobe5.13 ± 0.33
Parietal Lobe5.07 ± 0.4
Pontine Tegmentum5.05 ± 0.45
Striatum4.77 ± 0.49
Subthalamus4.93 ± 0.3
Temporal Lobe5.01 ± 0.36
Thalamus5.04 ± 0.34
White Matter5.67 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Saps3CBCerebellum33.89
55.4
Saps3CTXCerebral cortex88.27
73.43
Saps3HIPHippocampal region89.88
100
Saps3HPFHippocampal formation76.61
100
Saps3HYHypothalamus29.27
24.89
Saps3LSXLateral septal complex68.87
57.92
Saps3MBMidbrain41.87
38.75
Saps3MYMedulla57.01
60.35
Saps3OLFOlfactory bulb77.41
70.57
Saps3PPons34.74
32.63
Saps3PALPallidum32.29
30.84
Saps3RHPRetrohippocampal region62.7
57.69
Saps3sAMYStriatum-like amygdalar nuclei49.88
41.45
Saps3STRStriatum59.26
47.38
Saps3STRdStriatum dorsal region61.41
49.59
Saps3STRvStriatum ventral region54.1
39.8
Saps3THThalamus51.52
45.47
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002363 21 5 25 FDLHSSSHIDTLLEREDVTLK 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