AutismKB 2.0

Annotation Detail for PTEN


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Basic Information Top
Gene Symbol:PTEN ( 10q23del,BZS,DEC,GLM2,MGC11227,MHAM,MMAC1,PTEN1,TEP1 )
Gene Full Name: phosphatase and tensin homolog
Band: 10q23.31
Quick LinksEntrez ID:5728; OMIM: 601728; Uniprot ID:PTEN_HUMAN; ENSEMBL ID: ENSG00000171862; HGNC ID: 9588
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 body1 / 7076114
blastocyst1 / 6231916
fetus69 / 564012122
neonate1 / 3109732
infant1 / 2362042
juvenile1 / 5555617
adult138 / 193912171
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor14 / 114246122
esophageal tumor0 / 172900 
gastrointestinal tumor17 / 119369142
germ cell tumor6 / 26384522
glioma7 / 10688365
head and neck tumor10 / 13630273
kidney tumor2 / 6895929
leukemia9 / 9584293
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal213 / 336030763
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor19 / 125191151
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood4 / 12347832
bone2 / 7165527
bone marrow0 / 488010 
brain28 / 110098925
cervix5 / 48171103
connective tissue25 / 149255167
ear6 / 16212370
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye14 / 21105466
heart9 / 89626100
intestine20 / 23447285
kidney12 / 21177756
larynx4 / 24145165
liver8 / 20774338
lung27 / 33697480
lymph1 / 4427022
lymph node44 / 91610480
mammary gland3 / 15327119
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary2 / 10205119
pancreas14 / 21481265
parathyroid6 / 20539292
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta12 / 28082542
prostate17 / 18934589
salivary gland0 / 201550 
skin7 / 21057433
spleen1 / 5395218
stomach15 / 96619155
testis14 / 33044242
thymus5 / 8113161
thyroid5 / 47473105
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord1 / 1368073
uterus11 / 23287847
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217492_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts351.65
Adipocyte70.05
AdrenalCortex13.5
Adrenalgland6.35
Amygdala14.1
Appendix23.75
AtrioventricularNode15.5
BDCA4+_DentriticCells164.2
Bonemarrow14.05
BronchialEpithelialCells73.4
CD105+_Endothelial62.8
CD14+_Monocytes242.45
CD19+_BCells(neg._sel.)225.05
CD33+_Myeloid240.5
CD34+94.75
CD4+_Tcells63.4
CD56+_NKCells112.05
CD71+_EarlyErythroid60.15
CD8+_Tcells66.6
CardiacMyocytes39.3
Caudatenucleus6.75
Cerebellum4.9
CerebellumPeduncles7.3
CiliaryGanglion9.75
CingulateCortex12.2
Colorectaladenocarcinoma11.9
DorsalRootGanglion11.95
FetalThyroid12.35
Fetalbrain17.45
Fetalliver11.05
Fetallung72.8
GlobusPallidus8.85
Heart8.1
Hypothalamus8.9
Kidney5.05
Leukemia_chronicMyelogenousK-56222.65
Leukemia_promyelocytic-HL-60110.75
Leukemialymphoblastic(MOLT-4)16.25
Liver8.3
Lung9.65
Lymphnode23
Lymphoma_burkitts(Daudi)121.05
Lymphoma_burkitts(Raji)139.45
MedullaOblongata5.3
OccipitalLobe8.75
OlfactoryBulb28.65
Ovary9.8
Pancreas30.15
PancreaticIslet28.3
ParietalLobe6.95
Pituitary11.5
Placenta30.55
Pons5.95
PrefrontalCortex14
Prostate13.75
Salivarygland43.55
SkeletalMuscle10.2
Skin15.8
SmoothMuscle103.2
Spinalcord7.75
SubthalamicNucleus8.65
SuperiorCervicalGanglion11.45
TemporalLobe10.85
Testis10.15
TestisGermCell74.9
TestisIntersitial109.9
TestisLeydigCell28.1
TestisSeminiferousTubule30.6
Thalamus5.9
Thymus14.3
Thyroid22.45
Tongue11.2
Tonsil43.75
Trachea13.65
TrigeminalGanglion12.9
Uterus29.95
UterusCorpus9
WholeBlood773.85
Wholebrain5.9
colon44.9
pineal_day18.22
pineal_night24.22
retina13.6
small_intestine16.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P252785
  • 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
Amygdala10.03 ± 0.13
Basal Forebrain9.7 ± 0.2
Basal Part of Pons9.79 ± 0.25
Cerebellar Cortex10.1 ± 0.13
Cerebellar Nuclei9.71 ± 0.22
Claustrum9.82 ± 0.26
Epithalamus9.89 ± 0.25
Frontal Lobe9.78 ± 0.25
Globus Pallidus9.47 ± 0.14
Hypothalamus9.95 ± 0.3
Insula9.91 ± 0.21
Limbic Lobe9.94 ± 0.24
Mesencephalon9.88 ± 0.28
Myelencephalon9.79 ± 0.26
Occipital Lobe10.02 ± 0.25
Parietal Lobe9.85 ± 0.24
Pontine Tegmentum9.86 ± 0.24
Striatum9.57 ± 0.17
Subthalamus9.78 ± 0.12
Temporal Lobe9.88 ± 0.21
Thalamus9.8 ± 0.21
White Matter9.1 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PtenCBCerebellum37.68
78.26
PtenCTXCerebral cortex100
100
PtenHIPHippocampal region100
100
PtenHPFHippocampal formation100
100
PtenHYHypothalamus100
100
PtenLSXLateral septal complex100
100
PtenMBMidbrain62.73
85.3
PtenMYMedulla26.75
49.99
PtenOLFOlfactory bulb100
100
PtenPPons38.91
69.02
PtenPALPallidum100
100
PtenRHPRetrohippocampal region100
100
PtensAMYStriatum-like amygdalar nuclei100
100
PtenSTRStriatum100
100
PtenSTRdStriatum dorsal region100
100
PtenSTRvStriatum ventral region100
100
PtenTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00504862 29 350 378 TVEEPSNPEASSSTSVTPDVSDNEPDHYR Peptide Atlas
PTEN_HUMAN_2 10 2 11 TAIIKEIVSR PRIDE

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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