AutismKB 2.0

Annotation Detail for POLG2


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Basic Information Top
Gene Symbol:POLG2 ( HP55,MTPOLB,PEOA4,POLB,POLG-BETA,POLGB )
Gene Full Name: polymerase (DNA directed), gamma 2, accessory subunit
Band: 17q23.3
Quick LinksEntrez ID:11232; OMIM: 604983; Uniprot ID:DPOG2_HUMAN; ENSEMBL ID: ENSG00000136480; HGNC ID: 9180
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
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult27 / 193912113
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) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal70 / 336030720
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
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 tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain14 / 110098912
cervix4 / 4817183
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine2 / 2344728
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung9 / 33697426
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth2 / 6705229
muscle4 / 10771537
nerve0 / 157680 
ovary2 / 10205119
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis8 / 33044224
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205811_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.4
Adipocyte12.15
AdrenalCortex13.95
Adrenalgland10.7
Amygdala12.45
Appendix15.8
AtrioventricularNode10.1
BDCA4+_DentriticCells14.3
Bonemarrow15.2
BronchialEpithelialCells10.55
CD105+_Endothelial17.6
CD14+_Monocytes12.95
CD19+_BCells(neg._sel.)22.85
CD33+_Myeloid17.65
CD34+44.2
CD4+_Tcells28.2
CD56+_NKCells15.1
CD71+_EarlyErythroid12
CD8+_Tcells41.95
CardiacMyocytes15.65
Caudatenucleus10.85
Cerebellum10.15
CerebellumPeduncles14.35
CiliaryGanglion9.3
CingulateCortex12.35
Colorectaladenocarcinoma23.5
DorsalRootGanglion9.95
FetalThyroid12.1
Fetalbrain13.65
Fetalliver11
Fetallung10.2
GlobusPallidus9.7
Heart15.45
Hypothalamus12.5
Kidney10.2
Leukemia_chronicMyelogenousK-56214.25
Leukemia_promyelocytic-HL-6013.35
Leukemialymphoblastic(MOLT-4)19.1
Liver16.45
Lung13.25
Lymphnode11.65
Lymphoma_burkitts(Daudi)19.85
Lymphoma_burkitts(Raji)20.75
MedullaOblongata11.1
OccipitalLobe10.95
OlfactoryBulb9.7
Ovary9.8
Pancreas10.75
PancreaticIslet16.6
ParietalLobe14.1
Pituitary14.15
Placenta11.45
Pons11.85
PrefrontalCortex12.4
Prostate15.05
Salivarygland10.35
SkeletalMuscle14.95
Skin12.3
SmoothMuscle12.2
Spinalcord12.85
SubthalamicNucleus11.2
SuperiorCervicalGanglion20.85
TemporalLobe11.05
Testis12.15
TestisGermCell16.65
TestisIntersitial23.75
TestisLeydigCell13.9
TestisSeminiferousTubule11.95
Thalamus12.7
Thymus9.9
Thyroid14.9
Tongue16.05
Tonsil14.8
Trachea10
TrigeminalGanglion22.6
Uterus11.95
UterusCorpus11.4
WholeBlood13.1
Wholebrain9.1
colon12.25
pineal_day14.68
pineal_night14.5
retina14.475
small_intestine11.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16516_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
Amygdala5.08 ± 0.46
Basal Forebrain5.06 ± 0.35
Basal Part of Pons5.35 ± 0.38
Cerebellar Cortex5.76 ± 0.22
Cerebellar Nuclei5.4 ± 0.45
Claustrum5.16 ± 0.91
Epithalamus5.46 ± 0.36
Frontal Lobe5.31 ± 0.39
Globus Pallidus5.18 ± 0.27
Hypothalamus5.34 ± 0.47
Insula5.29 ± 0.21
Limbic Lobe5.17 ± 0.34
Mesencephalon5.2 ± 0.48
Myelencephalon5.25 ± 0.46
Occipital Lobe5.33 ± 0.34
Parietal Lobe5.22 ± 0.49
Pontine Tegmentum5.28 ± 0.5
Striatum5.11 ± 0.35
Subthalamus5.2 ± 0.14
Temporal Lobe5.33 ± 0.37
Thalamus5.28 ± 0.37
White Matter6.25 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Polg2CBCerebellum3.22
4.59
Polg2CTXCerebral cortex1.33
1.74
Polg2HIPHippocampal region1.17
1.75
Polg2HPFHippocampal formation1.13
2.05
Polg2HYHypothalamus0.6
0.61
Polg2LSXLateral septal complex0.57
0.62
Polg2MBMidbrain1.21
1.35
Polg2MYMedulla2.41
2.77
Polg2OLFOlfactory bulb0.68
1.4
Polg2PPons1.82
2.25
Polg2PALPallidum0.98
0.94
Polg2RHPRetrohippocampal region1.08
2.17
Polg2sAMYStriatum-like amygdalar nuclei0.67
0.46
Polg2STRStriatum0.72
0.67
Polg2STRdStriatum dorsal region0.82
0.8
Polg2STRvStriatum ventral region0.56
0.46
Polg2THThalamus1.74
1.62
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00082101 19 89 107 DSLLSGCHPGFGPLGVELR 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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