AutismKB 2.0

Annotation Detail for POLA2


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Basic Information Top
Gene Symbol:POLA2 ( FLJ21662,FLJ37250 )
Gene Full Name: polymerase (DNA directed), alpha 2 (70kD subunit)
Band: 11q13.1
Quick LinksEntrez ID:23649; OMIM: NA; Uniprot ID:DPOA2_HUMAN; ENSEMBL ID: ENSG00000014138; HGNC ID: 30073
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
blastocyst4 / 6231964
fetus27 / 56401247
neonate3 / 3109796
infant2 / 2362084
juvenile11 / 55556197
adult139 / 193912171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor8 / 34366232
chondrosarcoma4 / 8282348
colorectal tumor5 / 11424643
esophageal tumor6 / 17290347
gastrointestinal tumor7 / 11936958
germ cell tumor69 / 263845261
glioma10 / 10688393
head and neck tumor10 / 13630273
kidney tumor6 / 6895987
leukemia11 / 95842114
liver tumor8 / 9635983
lung tumor18 / 103127174
lymphoma3 / 7175541
non-neoplasia3 / 9725030
normal179 / 336030753
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS20 / 125680159
prostate cancer4 / 10268038
retinoblastoma3 / 4635664
skin tumor5 / 12494940
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood6 / 12347848
bone4 / 7165555
bone marrow5 / 48801102
brain73 / 110098966
cervix8 / 48171166
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus6 / 20209296
eye8 / 21105437
heart2 / 8962622
intestine13 / 23447255
kidney12 / 21177756
larynx2 / 2414582
liver11 / 20774352
lung34 / 336974100
lymph2 / 4427045
lymph node10 / 91610109
mammary gland6 / 15327139
mouth8 / 67052119
muscle5 / 10771546
nerve0 / 157680 
ovary3 / 10205129
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate7 / 18934536
salivary gland1 / 2015549
skin11 / 21057452
spleen7 / 53952129
stomach3 / 9661931
testis71 / 330442214
thymus15 / 81131184
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord1 / 1368073
uterus17 / 23287872
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204441_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts30.9
Adipocyte6.1
AdrenalCortex6.5
Adrenalgland5.25
Amygdala6.55
Appendix6.2
AtrioventricularNode4.75
BDCA4+_DentriticCells6.9
Bonemarrow6.1
BronchialEpithelialCells6.05
CD105+_Endothelial9.2
CD14+_Monocytes6.65
CD19+_BCells(neg._sel.)6.8
CD33+_Myeloid8.05
CD34+10.3
CD4+_Tcells7.2
CD56+_NKCells7.4
CD71+_EarlyErythroid5.8
CD8+_Tcells6.05
CardiacMyocytes8.95
Caudatenucleus5.55
Cerebellum4.95
CerebellumPeduncles7.25
CiliaryGanglion4.4
CingulateCortex6.3
Colorectaladenocarcinoma19.2
DorsalRootGanglion4.75
FetalThyroid6
Fetalbrain6.15
Fetalliver6.05
Fetallung5.2
GlobusPallidus4.65
Heart8.7
Hypothalamus6.5
Kidney5
Leukemia_chronicMyelogenousK-5626.3
Leukemia_promyelocytic-HL-607.65
Leukemialymphoblastic(MOLT-4)12.7
Liver8.5
Lung6.75
Lymphnode5.3
Lymphoma_burkitts(Daudi)16.75
Lymphoma_burkitts(Raji)9
MedullaOblongata5.65
OccipitalLobe5.55
OlfactoryBulb4.7
Ovary4.1
Pancreas4.95
PancreaticIslet6.6
ParietalLobe6.5
Pituitary7.35
Placenta6.4
Pons5.85
PrefrontalCortex7.75
Prostate7.25
Salivarygland4.95
SkeletalMuscle7.55
Skin4.8
SmoothMuscle7.05
Spinalcord6.6
SubthalamicNucleus5.45
SuperiorCervicalGanglion7
TemporalLobe5.7
Testis5.65
TestisGermCell5.2
TestisIntersitial5.2
TestisLeydigCell6.1
TestisSeminiferousTubule5.35
Thalamus6.3
Thymus6
Thyroid7.85
Tongue6.05
Tonsil6
Trachea5.15
TrigeminalGanglion6.15
Uterus5.1
UterusCorpus5.8
WholeBlood6.6
Wholebrain5.25
colon6.3
pineal_day7.62
pineal_night7.34
retina7.4
small_intestine7.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16504_PI416261804
  • 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
Amygdala2.66 ± 0.99
Basal Forebrain2.26 ± 0.45
Basal Part of Pons1.69 ± 0.36
Cerebellar Cortex2.82 ± 0.49
Cerebellar Nuclei2.42 ± 0.77
Claustrum2.73 ± 0.72
Epithalamus1.88 ± 0.84
Frontal Lobe2.1 ± 0.74
Globus Pallidus2.03 ± 0.54
Hypothalamus2.23 ± 0.78
Insula2.07 ± 0.59
Limbic Lobe2.12 ± 0.7
Mesencephalon2.41 ± 0.84
Myelencephalon2.19 ± 0.7
Occipital Lobe2.14 ± 0.7
Parietal Lobe2.1 ± 0.85
Pontine Tegmentum2.22 ± 0.66
Striatum1.9 ± 0.69
Subthalamus2.27 ± 0.72
Temporal Lobe2.11 ± 0.74
Thalamus2.08 ± 0.64
White Matter3.05 ± 0.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pola2CBCerebellum14.95
22.21
Pola2CTXCerebral cortex33.51
27.2
Pola2HIPHippocampal region13.64
14.62
Pola2HPFHippocampal formation29.32
29.6
Pola2HYHypothalamus0.26
0.29
Pola2LSXLateral septal complex0.04
0
Pola2MBMidbrain2.41
2.16
Pola2MYMedulla2.54
2.76
Pola2OLFOlfactory bulb16.35
13.27
Pola2PPons0.74
0.68
Pola2PALPallidum3.77
3.93
Pola2RHPRetrohippocampal region50.22
45.64
Pola2sAMYStriatum-like amygdalar nuclei8.06
6.2
Pola2STRStriatum8.43
7.19
Pola2STRdStriatum dorsal region11.54
10.15
Pola2STRvStriatum ventral region1.49
1.27
Pola2THThalamus1.9
1.83
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00078156 13 415 427 SSGSHLVFVPSLR 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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