AutismKB 2.0

Annotation Detail for PPP1R8


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Basic Information Top
Gene Symbol:PPP1R8 ( ARD-1,ARD1,NIPP-1,NIPP1,PRO2047 )
Gene Full Name: protein phosphatase 1, regulatory (inhibitor) subunit 8
Band: 1p35.3
Quick LinksEntrez ID:5511; OMIM: 602636; Uniprot ID:PP1R8_HUMAN; ENSEMBL ID: ENSG00000117751; HGNC ID: 9296
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 body6 / 7076184
blastocyst4 / 6231964
fetus29 / 56401251
neonate3 / 3109796
infant0 / 236200 
juvenile7 / 55556125
adult122 / 193912162
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) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor45 / 263845170
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia6 / 9584262
liver tumor7 / 9635972
lung tumor1 / 1031279
lymphoma13 / 71755181
non-neoplasia8 / 9725082
normal207 / 336030761
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer9 / 10268087
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites10 / 40015249
bladder2 / 2975767
blood15 / 123478121
bone4 / 7165555
bone marrow1 / 4880120
brain81 / 110098973
cervix6 / 48171124
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye5 / 21105423
heart8 / 8962689
intestine12 / 23447251
kidney13 / 21177761
larynx0 / 241450 
liver10 / 20774348
lung8 / 33697423
lymph9 / 44270203
lymph node1 / 9161010
mammary gland11 / 15327171
mouth1 / 6705214
muscle8 / 10771574
nerve0 / 157680 
ovary3 / 10205129
pancreas5 / 21481223
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland3 / 16585180
placenta14 / 28082549
prostate21 / 189345110
salivary gland0 / 201550 
skin7 / 21057433
spleen3 / 5395255
stomach3 / 9661931
testis31 / 33044293
thymus12 / 81131147
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus14 / 23287860
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207830_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts137.75
Adipocyte11.5
AdrenalCortex13.05
Adrenalgland11.3
Amygdala21.05
Appendix14.15
AtrioventricularNode9.6
BDCA4+_DentriticCells88.1
Bonemarrow13.85
BronchialEpithelialCells40.2
CD105+_Endothelial137.55
CD14+_Monocytes68.25
CD19+_BCells(neg._sel.)103.6
CD33+_Myeloid37.25
CD34+128.95
CD4+_Tcells41.75
CD56+_NKCells174.65
CD71+_EarlyErythroid44.55
CD8+_Tcells69.15
CardiacMyocytes19.2
Caudatenucleus13.45
Cerebellum10.5
CerebellumPeduncles14.95
CiliaryGanglion6
CingulateCortex12.35
Colorectaladenocarcinoma14.6
DorsalRootGanglion10.05
FetalThyroid11.25
Fetalbrain30.65
Fetalliver11.55
Fetallung21.5
GlobusPallidus7.75
Heart16.65
Hypothalamus25.1
Kidney8.55
Leukemia_chronicMyelogenousK-56222.15
Leukemia_promyelocytic-HL-6073.7
Leukemialymphoblastic(MOLT-4)43.95
Liver17.25
Lung15.95
Lymphnode13.3
Lymphoma_burkitts(Daudi)30.8
Lymphoma_burkitts(Raji)21.7
MedullaOblongata13
OccipitalLobe13.05
OlfactoryBulb10.7
Ovary8.35
Pancreas10.3
PancreaticIslet18.2
ParietalLobe13.55
Pituitary21.75
Placenta29.65
Pons10.55
PrefrontalCortex22.55
Prostate26.2
Salivarygland8.85
SkeletalMuscle15.7
Skin6.65
SmoothMuscle17.1
Spinalcord20.85
SubthalamicNucleus10.15
SuperiorCervicalGanglion15.25
TemporalLobe11.3
Testis13.15
TestisGermCell13.1
TestisIntersitial11.9
TestisLeydigCell11
TestisSeminiferousTubule10.7
Thalamus14.3
Thymus27.1
Thyroid27.15
Tongue12.55
Tonsil11
Trachea12
TrigeminalGanglion12.05
Uterus17.25
UterusCorpus11.7
WholeBlood47.7
Wholebrain23.2
colon18.55
pineal_day184.88
pineal_night170.14
retina43.85
small_intestine30.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P139773
  • 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
Amygdala8.56 ± 0.32
Basal Forebrain8.57 ± 0.31
Basal Part of Pons8.21 ± 0.28
Cerebellar Cortex8.19 ± 0.25
Cerebellar Nuclei8.51 ± 0.32
Claustrum8.57 ± 0.45
Epithalamus8.37 ± 0.23
Frontal Lobe8.18 ± 0.3
Globus Pallidus8.86 ± 0.21
Hypothalamus8.22 ± 0.34
Insula8.14 ± 0.3
Limbic Lobe8.45 ± 0.32
Mesencephalon8.45 ± 0.29
Myelencephalon8.41 ± 0.39
Occipital Lobe8.72 ± 0.45
Parietal Lobe8.33 ± 0.31
Pontine Tegmentum8.42 ± 0.31
Striatum8.81 ± 0.33
Subthalamus8.15 ± 0.09
Temporal Lobe8.24 ± 0.27
Thalamus8.4 ± 0.26
White Matter9.31 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ppp1r8CBCerebellum28.87
54.06
Ppp1r8CTXCerebral cortex100
100
Ppp1r8HIPHippocampal region62.16
100
Ppp1r8HPFHippocampal formation76.73
100
Ppp1r8HYHypothalamus21.21
17.39
Ppp1r8LSXLateral septal complex21.17
14.73
Ppp1r8MBMidbrain37.41
34.65
Ppp1r8MYMedulla29.73
34.78
Ppp1r8OLFOlfactory bulb86.54
81.98
Ppp1r8PPons24.12
26.2
Ppp1r8PALPallidum32.7
29.81
Ppp1r8RHPRetrohippocampal region100
100
Ppp1r8sAMYStriatum-like amygdalar nuclei86.49
72.75
Ppp1r8STRStriatum75.48
58.4
Ppp1r8STRdStriatum dorsal region81.81
63.1
Ppp1r8STRvStriatum ventral region59.82
44.78
Ppp1r8THThalamus51.43
44.55
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00076965 16 13 28 RVEGPGSLGLEESGSR 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