AutismKB 2.0

Annotation Detail for POLR1E


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Basic Information Top
Gene Symbol:POLR1E ( FLJ13390,FLJ13970,PAF53,PRAF1,RP11-405L18.3 )
Gene Full Name: polymerase (RNA) I polypeptide E, 53kDa
Band: 9p13.2
Quick LinksEntrez ID:64425; OMIM: NA; Uniprot ID:RPA49_HUMAN; ENSEMBL ID: ENSG00000137054; HGNC ID: 17631
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 body4 / 7076156
blastocyst3 / 6231948
fetus21 / 56401237
neonate3 / 3109796
infant10 / 23620423
juvenile11 / 55556197
adult47 / 193912124
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) tumor7 / 9417874
cervical tumor6 / 34366174
chondrosarcoma1 / 8282312
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor9 / 11936975
germ cell tumor15 / 26384556
glioma7 / 10688365
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor7 / 9635972
lung tumor3 / 10312729
lymphoma5 / 7175569
non-neoplasia2 / 9725020
normal110 / 336030732
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS25 / 125680198
prostate cancer1 / 1026809
retinoblastoma4 / 4635686
skin tumor13 / 124949104
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites6 / 40015149
bladder1 / 2975733
blood5 / 12347840
bone2 / 7165527
bone marrow3 / 4880161
brain54 / 110098949
cervix8 / 48171166
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye5 / 21105423
heart4 / 8962644
intestine15 / 23447263
kidney6 / 21177728
larynx0 / 241450 
liver8 / 20774338
lung13 / 33697438
lymph0 / 442700 
lymph node1 / 9161010
mammary gland7 / 15327145
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta9 / 28082532
prostate2 / 18934510
salivary gland0 / 201550 
skin16 / 21057475
spleen2 / 5395237
stomach6 / 9661962
testis15 / 33044245
thymus7 / 8113186
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord3 / 13680219
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218997_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.15
Adipocyte13.8
AdrenalCortex11.8
Adrenalgland9.7
Amygdala12.1
Appendix11.4
AtrioventricularNode8.4
BDCA4+_DentriticCells13
Bonemarrow11.2
BronchialEpithelialCells11.7
CD105+_Endothelial11.75
CD14+_Monocytes12.1
CD19+_BCells(neg._sel.)20.5
CD33+_Myeloid14.6
CD34+22.7
CD4+_Tcells20.55
CD56+_NKCells25.35
CD71+_EarlyErythroid10.45
CD8+_Tcells21.6
CardiacMyocytes14.3
Caudatenucleus10.35
Cerebellum9.25
CerebellumPeduncles12.95
CiliaryGanglion7.9
CingulateCortex11.55
Colorectaladenocarcinoma18.6
DorsalRootGanglion8.5
FetalThyroid10.9
Fetalbrain11.65
Fetalliver9.85
Fetallung9.65
GlobusPallidus8.3
Heart14.3
Hypothalamus12.35
Kidney9.15
Leukemia_chronicMyelogenousK-56212.7
Leukemia_promyelocytic-HL-6014.95
Leukemialymphoblastic(MOLT-4)10.3
Liver14.95
Lung12.95
Lymphnode10.05
Lymphoma_burkitts(Daudi)28.6
Lymphoma_burkitts(Raji)20.7
MedullaOblongata10.25
OccipitalLobe9.95
OlfactoryBulb9.1
Ovary7.6
Pancreas10.05
PancreaticIslet16.75
ParietalLobe12.05
Pituitary16.25
Placenta12
Pons10.9
PrefrontalCortex14.55
Prostate13.8
Salivarygland9.15
SkeletalMuscle12.75
Skin8.75
SmoothMuscle14.75
Spinalcord12.25
SubthalamicNucleus10.35
SuperiorCervicalGanglion12.75
TemporalLobe13.6
Testis10.05
TestisGermCell9.75
TestisIntersitial9.65
TestisLeydigCell12.15
TestisSeminiferousTubule9.9
Thalamus10.9
Thymus9.35
Thyroid14.55
Tongue11.1
Tonsil12.55
Trachea9.75
TrigeminalGanglion11.05
Uterus12.4
UterusCorpus13.05
WholeBlood12.9
Wholebrain9.7
colon11.6
pineal_day14.28
pineal_night13.76
retina14.225
small_intestine11.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1524_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
Amygdala4.97 ± 0.32
Basal Forebrain5.37 ± 0.21
Basal Part of Pons5.2 ± 0.33
Cerebellar Cortex5.28 ± 0.28
Cerebellar Nuclei4.82 ± 0.46
Claustrum4.78 ± 0.58
Epithalamus5.4 ± 0.43
Frontal Lobe4.99 ± 0.4
Globus Pallidus5.16 ± 0.38
Hypothalamus5.24 ± 0.39
Insula5.1 ± 0.31
Limbic Lobe4.88 ± 0.42
Mesencephalon5.03 ± 0.5
Myelencephalon4.95 ± 0.44
Occipital Lobe4.86 ± 0.39
Parietal Lobe4.9 ± 0.39
Pontine Tegmentum4.97 ± 0.45
Striatum5 ± 0.37
Subthalamus4.82 ± 0.69
Temporal Lobe5.08 ± 0.36
Thalamus4.87 ± 0.44
White Matter5.48 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Polr1eCBCerebellum15.34
16.78
Polr1eCTXCerebral cortex35.48
20.26
Polr1eHIPHippocampal region19.34
17.02
Polr1eHPFHippocampal formation29.51
20.94
Polr1eHYHypothalamus6.19
3.94
Polr1eLSXLateral septal complex8.11
3.39
Polr1eMBMidbrain9.58
7.02
Polr1eMYMedulla23.93
20.57
Polr1eOLFOlfactory bulb34.23
21.03
Polr1ePPons18.17
14.07
Polr1ePALPallidum13.15
10.12
Polr1eRHPRetrohippocampal region44.47
26.4
Polr1esAMYStriatum-like amygdalar nuclei11.08
6.37
Polr1eSTRStriatum10.18
6.14
Polr1eSTRdStriatum dorsal region9.15
5.93
Polr1eSTRvStriatum ventral region14.04
7.77
Polr1eTHThalamus28.99
20.26
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00008769 12 11 22 WQYCGAPDGSQR 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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