AutismKB 2.0

Annotation Detail for POLQ


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:POLQ ( DKFZp781A0112,POLH,PRO0327 )
Gene Full Name: polymerase (DNA directed), theta
Band: 3q13.33
Quick LinksEntrez ID:10721; OMIM: 604419; Uniprot ID:Q59EE4_HUMAN; ENSEMBL ID: ENSG00000051341; HGNC ID: 9186
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
blastocyst2 / 6231932
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult37 / 193912119
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor25 / 136302183
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal24 / 33603077
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone1 / 7165513
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue1 / 1492556
ear2 / 16212123
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine5 / 23447221
kidney3 / 21177714
larynx24 / 24145993
liver2 / 2077439
lung2 / 3369745
lymph1 / 4427022
lymph node6 / 9161065
mammary gland4 / 15327126
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach1 / 9661910
testis4 / 33044212
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219510_at
Cell line Expression level Expression bar
721_B_lymphoblasts20.2
Adipocyte4.15
AdrenalCortex4.7
Adrenalgland3.6
Amygdala4.55
Appendix4.65
AtrioventricularNode3.4
BDCA4+_DentriticCells4.45
Bonemarrow4.3
BronchialEpithelialCells4.15
CD105+_Endothelial13.9
CD14+_Monocytes4.45
CD19+_BCells(neg._sel.)4.4
CD33+_Myeloid5.75
CD34+9.2
CD4+_Tcells4.45
CD56+_NKCells5.05
CD71+_EarlyErythroid5.45
CD8+_Tcells3.95
CardiacMyocytes6.1
Caudatenucleus3.8
Cerebellum3.45
CerebellumPeduncles4.8
CiliaryGanglion3
CingulateCortex4.3
Colorectaladenocarcinoma4.3
DorsalRootGanglion3.45
FetalThyroid4.1
Fetalbrain4.15
Fetalliver3.8
Fetallung3.45
GlobusPallidus3.15
Heart5.6
Hypothalamus4.7
Kidney3.55
Leukemia_chronicMyelogenousK-5623.85
Leukemia_promyelocytic-HL-604.95
Leukemialymphoblastic(MOLT-4)5.85
Liver5.85
Lung4.65
Lymphnode3.6
Lymphoma_burkitts(Daudi)27.6
Lymphoma_burkitts(Raji)6.2
MedullaOblongata3.85
OccipitalLobe3.8
OlfactoryBulb3.35
Ovary2.9
Pancreas3.45
PancreaticIslet4.5
ParietalLobe4.5
Pituitary4.95
Placenta4.3
Pons4
PrefrontalCortex5.2
Prostate4.9
Salivarygland3.45
SkeletalMuscle5.1
Skin3.35
SmoothMuscle4.85
Spinalcord4.5
SubthalamicNucleus3.85
SuperiorCervicalGanglion5.6
TemporalLobe3.85
Testis3.7
TestisGermCell3.6
TestisIntersitial3.55
TestisLeydigCell4.25
TestisSeminiferousTubule3.65
Thalamus4.3
Thymus3.4
Thyroid5.25
Tongue4.2
Tonsil4.15
Trachea3.95
TrigeminalGanglion4.85
Uterus3.5
UterusCorpus3.9
WholeBlood4.65
Wholebrain3.55
colon4.3
pineal_day5.2
pineal_night5.08
retina5.175
small_intestine4.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14753_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
Amygdala2.35 ± 1.01
Basal Forebrain1.87 ± 0.2
Basal Part of Pons1.6 ± 0.36
Cerebellar Cortex1.78 ± 0.71
Cerebellar Nuclei2.24 ± 0.73
Claustrum2.66 ± 0.73
Epithalamus1.87 ± 0.64
Frontal Lobe1.77 ± 0.64
Globus Pallidus2.45 ± 0.31
Hypothalamus1.92 ± 0.7
Insula1.81 ± 0.47
Limbic Lobe1.94 ± 0.57
Mesencephalon2.08 ± 0.66
Myelencephalon1.95 ± 0.63
Occipital Lobe1.92 ± 0.45
Parietal Lobe1.97 ± 0.79
Pontine Tegmentum1.98 ± 0.68
Striatum2.08 ± 0.52
Subthalamus2.11 ± 0.63
Temporal Lobe1.87 ± 0.68
Thalamus1.89 ± 0.59
White Matter2.37 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PolqPPons0.28
0.27
Peptide Top

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved