AutismKB 2.0

Annotation Detail for POLE


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Basic Information Top
Gene Symbol:POLE ( DKFZp434F222,FLJ21434,POLE1 )
Gene Full Name: polymerase (DNA directed), epsilon
Band: 12q24.33
Quick LinksEntrez ID:5426; OMIM: 174762; Uniprot ID:DPOE1_HUMAN; ENSEMBL ID: ENSG00000177084; HGNC ID: 9177
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 body3 / 7076142
blastocyst9 / 62319144
fetus32 / 56401256
neonate1 / 3109732
infant1 / 2362042
juvenile2 / 5555635
adult118 / 193912160
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor30 / 263845113
glioma6 / 10688356
head and neck tumor10 / 13630273
kidney tumor4 / 6895958
leukemia10 / 95842104
liver tumor0 / 963590 
lung tumor11 / 103127106
lymphoma9 / 71755125
non-neoplasia3 / 9725030
normal170 / 336030750
ovarian tumor7 / 7668291
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer2 / 10268019
retinoblastoma6 / 46356129
skin tumor7 / 12494956
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder3 / 29757100
blood13 / 123478105
bone0 / 716550 
bone marrow1 / 4880120
brain69 / 110098962
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus0 / 202090 
eye12 / 21105456
heart1 / 8962611
intestine21 / 23447289
kidney9 / 21177742
larynx4 / 24145165
liver1 / 2077434
lung12 / 33697435
lymph8 / 44270180
lymph node11 / 91610120
mammary gland6 / 15327139
mouth3 / 6705244
muscle5 / 10771546
nerve0 / 157680 
ovary7 / 10205168
pancreas5 / 21481223
parathyroid4 / 20539194
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta4 / 28082514
prostate7 / 18934536
salivary gland0 / 201550 
skin9 / 21057442
spleen3 / 5395255
stomach4 / 9661941
testis26 / 33044278
thymus12 / 81131147
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216026_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts51.2
Adipocyte28.45
AdrenalCortex31.95
Adrenalgland24.45
Amygdala25.45
Appendix26.85
AtrioventricularNode28
BDCA4+_DentriticCells45.95
Bonemarrow39.95
BronchialEpithelialCells22.35
CD105+_Endothelial30.3
CD14+_Monocytes26.45
CD19+_BCells(neg._sel.)27.4
CD33+_Myeloid30.2
CD34+100.6
CD4+_Tcells29.35
CD56+_NKCells35.75
CD71+_EarlyErythroid38.6
CD8+_Tcells24.9
CardiacMyocytes36
Caudatenucleus25.2
Cerebellum23.1
CerebellumPeduncles41.4
CiliaryGanglion24.45
CingulateCortex36.65
Colorectaladenocarcinoma34.1
DorsalRootGanglion26.75
FetalThyroid25.6
Fetalbrain33.95
Fetalliver34.45
Fetallung19.7
GlobusPallidus23.65
Heart40.65
Hypothalamus29.3
Kidney32.7
Leukemia_chronicMyelogenousK-56243.1
Leukemia_promyelocytic-HL-6028.25
Leukemialymphoblastic(MOLT-4)92.45
Liver59.7
Lung31.35
Lymphnode24.7
Lymphoma_burkitts(Daudi)40.65
Lymphoma_burkitts(Raji)46.25
MedullaOblongata25.65
OccipitalLobe21.15
OlfactoryBulb19.8
Ovary18.9
Pancreas25.6
PancreaticIslet30.05
ParietalLobe38.4
Pituitary33.75
Placenta27.4
Pons40.8
PrefrontalCortex28.45
Prostate31.5
Salivarygland19.5
SkeletalMuscle48.45
Skin29.5
SmoothMuscle31.25
Spinalcord34.25
SubthalamicNucleus26.4
SuperiorCervicalGanglion37.7
TemporalLobe26.45
Testis38.75
TestisGermCell33.6
TestisIntersitial27.3
TestisLeydigCell28.75
TestisSeminiferousTubule27.1
Thalamus30.95
Thymus27.5
Thyroid27.35
Tongue26.15
Tonsil27.1
Trachea22.65
TrigeminalGanglion35.6
Uterus21.2
UterusCorpus25.95
WholeBlood23.8
Wholebrain23.25
colon22.7
pineal_day30.82
pineal_night28.82
retina32.375
small_intestine23.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P159355
  • 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
Amygdala2.56 ± 1.01
Basal Forebrain2.13 ± 0.13
Basal Part of Pons1.84 ± 0.55
Cerebellar Cortex2.39 ± 0.71
Cerebellar Nuclei2.37 ± 0.73
Claustrum2.99 ± 0.91
Epithalamus1.78 ± 0.78
Frontal Lobe1.98 ± 0.59
Globus Pallidus2.37 ± 0.46
Hypothalamus2.18 ± 0.59
Insula1.94 ± 0.51
Limbic Lobe2.22 ± 0.69
Mesencephalon2.37 ± 0.7
Myelencephalon2.21 ± 0.65
Occipital Lobe2.47 ± 1.01
Parietal Lobe2.13 ± 0.68
Pontine Tegmentum2.09 ± 0.66
Striatum2.23 ± 0.68
Subthalamus2.29 ± 0.68
Temporal Lobe2.12 ± 0.69
Thalamus2.16 ± 0.61
White Matter2.44 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PoleCBCerebellum0.69
0.96
PoleCTXCerebral cortex0.43
0.46
PoleHIPHippocampal region0.25
0.35
PoleHPFHippocampal formation0.33
0.4
PoleHYHypothalamus0.2
0.13
PoleLSXLateral septal complex0.13
0.25
PoleMBMidbrain0.29
0.3
PoleMYMedulla0.24
0.34
PoleOLFOlfactory bulb0.42
0.45
PolePPons0.26
0.34
PolePALPallidum0.19
0.31
PoleRHPRetrohippocampal region0.47
0.48
PolesAMYStriatum-like amygdalar nuclei0.33
0.16
PoleSTRStriatum0.15
0.14
PoleSTRdStriatum dorsal region0.12
0.17
PoleSTRvStriatum ventral region0.14
0.08
PoleTHThalamus0.35
0.31
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00510257 17 1943 1959 AGGAEDEQENEDDEEER 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


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