AutismKB 2.0

Annotation Detail for POLG


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Basic Information Top
Gene Symbol:POLG ( FLJ27114,MDP1,PEO,POLG1,POLGA,SANDO,SCAE )
Gene Full Name: polymerase (DNA directed), gamma
Band: 15q26.1
Quick LinksEntrez ID:5428; OMIM: 174763; Uniprot ID:DPOG1_HUMAN; ENSEMBL ID: ENSG00000140521; HGNC ID: 9179
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
blastocyst5 / 6231980
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult66 / 193912134
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor2 / 11936916
germ cell tumor20 / 26384575
glioma1 / 1068839
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma7 / 7175597
non-neoplasia1 / 9725010
normal120 / 336030735
ovarian tumor3 / 7668239
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer0 / 1026800 
retinoblastoma5 / 46356107
skin tumor21 / 124949168
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood4 / 12347832
bone2 / 7165527
bone marrow2 / 4880140
brain40 / 110098936
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus2 / 2020998
eye12 / 21105456
heart0 / 896260 
intestine5 / 23447221
kidney4 / 21177718
larynx2 / 2414582
liver7 / 20774333
lung9 / 33697426
lymph4 / 4427090
lymph node6 / 9161065
mammary gland4 / 15327126
mouth4 / 6705259
muscle2 / 10771518
nerve0 / 157680 
ovary3 / 10205129
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta12 / 28082542
prostate3 / 18934515
salivary gland0 / 201550 
skin22 / 210574104
spleen5 / 5395292
stomach1 / 9661910
testis17 / 33044251
thymus8 / 8113198
thyroid1 / 4747321
tonsil3 / 16999176
trachea0 / 524130 
umbilical cord0 / 136800 
uterus14 / 23287860
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217635_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts32.9
Adipocyte24.1
AdrenalCortex35.5
Adrenalgland20.5
Amygdala15.45
Appendix24
AtrioventricularNode35.4
BDCA4+_DentriticCells20.75
Bonemarrow23.65
BronchialEpithelialCells17.2
CD105+_Endothelial21.1
CD14+_Monocytes44.8
CD19+_BCells(neg._sel.)21.65
CD33+_Myeloid26.05
CD34+28.45
CD4+_Tcells35.85
CD56+_NKCells25
CD71+_EarlyErythroid31.75
CD8+_Tcells39.4
CardiacMyocytes29.4
Caudatenucleus21.65
Cerebellum20
CerebellumPeduncles33.7
CiliaryGanglion44.5
CingulateCortex37.5
Colorectaladenocarcinoma21.5
DorsalRootGanglion29.15
FetalThyroid22.1
Fetalbrain23.65
Fetalliver18.4
Fetallung16.3
GlobusPallidus28.3
Heart24.55
Hypothalamus22.95
Kidney22.6
Leukemia_chronicMyelogenousK-56222.8
Leukemia_promyelocytic-HL-6023.4
Leukemialymphoblastic(MOLT-4)26.55
Liver25.4
Lung19.75
Lymphnode19.6
Lymphoma_burkitts(Daudi)30.2
Lymphoma_burkitts(Raji)29.1
MedullaOblongata20.7
OccipitalLobe28.35
OlfactoryBulb18
Ovary21.2
Pancreas16.7
PancreaticIslet21.5
ParietalLobe35.95
Pituitary27
Placenta22.95
Pons25.7
PrefrontalCortex25.85
Prostate17.6
Salivarygland19.55
SkeletalMuscle55.9
Skin25.35
SmoothMuscle22.9
Spinalcord25.45
SubthalamicNucleus30.45
SuperiorCervicalGanglion32.45
TemporalLobe22.5
Testis17.35
TestisGermCell18.2
TestisIntersitial19.55
TestisLeydigCell29.65
TestisSeminiferousTubule19.9
Thalamus42.9
Thymus17.7
Thyroid18.75
Tongue31.45
Tonsil25.8
Trachea18.55
TrigeminalGanglion30
Uterus11.6
UterusCorpus18.25
WholeBlood19.8
Wholebrain11.15
colon15.2
pineal_day27.92
pineal_night26.12
retina31.425
small_intestine14.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P3355
  • 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
Amygdala7.73 ± 0.36
Basal Forebrain7.93 ± 0.08
Basal Part of Pons8.06 ± 0.23
Cerebellar Cortex8.26 ± 0.14
Cerebellar Nuclei7.97 ± 0.3
Claustrum7.82 ± 0.29
Epithalamus7.81 ± 0.21
Frontal Lobe8.06 ± 0.27
Globus Pallidus7.61 ± 0.17
Hypothalamus7.83 ± 0.21
Insula8.13 ± 0.2
Limbic Lobe8.06 ± 0.31
Mesencephalon7.89 ± 0.31
Myelencephalon7.97 ± 0.29
Occipital Lobe7.84 ± 0.31
Parietal Lobe8.01 ± 0.24
Pontine Tegmentum8 ± 0.25
Striatum7.68 ± 0.27
Subthalamus8.05 ± 0.16
Temporal Lobe8.1 ± 0.25
Thalamus7.9 ± 0.24
White Matter8.45 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PolgCBCerebellum19.4
21.04
PolgCTXCerebral cortex68.59
51.59
PolgHIPHippocampal region45.55
66.82
PolgHPFHippocampal formation42.79
50.13
PolgHYHypothalamus9.72
7.16
PolgLSXLateral septal complex17.89
11.78
PolgMBMidbrain22.08
19.09
PolgMYMedulla31.72
31.79
PolgOLFOlfactory bulb51.34
42.48
PolgPPons27.41
26.88
PolgPALPallidum18.45
15.52
PolgRHPRetrohippocampal region38.49
28.79
PolgsAMYStriatum-like amygdalar nuclei28.76
20.65
PolgSTRStriatum27.72
19.34
PolgSTRdStriatum dorsal region27.31
19.15
PolgSTRvStriatum ventral region32.81
22.17
PolgTHThalamus28.4
22.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DPOG1_HUMAN_773 29 773 801 MEDGTLQAGPGGASGPRALEINKMISFWR PRIDE
PAp00505882 20 82 101 GLHEQIFGQGGEMPGEAAVR 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