AutismKB 2.0

Annotation Detail for POLR3D


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Basic Information Top
Gene Symbol:POLR3D ( BN51T,RPC4,RPC53,TSBN51 )
Gene Full Name: polymerase (RNA) III (DNA directed) polypeptide D, 44kDa
Band: 8p21.3
Quick LinksEntrez ID:661; OMIM: 187280; Uniprot ID:RPC4_HUMAN; ENSEMBL ID: ENSG00000168495; HGNC ID: 1080
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
blastocyst1 / 6231916
fetus19 / 56401233
neonate1 / 3109732
infant1 / 2362042
juvenile4 / 5555671
adult72 / 193912137
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor3 / 3436687
chondrosarcoma7 / 8282384
colorectal tumor8 / 11424670
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor11 / 26384541
glioma12 / 106883112
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor12 / 96359124
lung tumor5 / 10312748
lymphoma11 / 71755153
non-neoplasia2 / 9725020
normal82 / 336030724
ovarian tumor2 / 7668226
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS24 / 125680190
prostate cancer6 / 10268058
retinoblastoma4 / 4635686
skin tumor14 / 124949112
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites3 / 4001574
bladder1 / 2975733
blood4 / 12347832
bone1 / 7165513
bone marrow2 / 4880140
brain37 / 110098933
cervix5 / 48171103
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus1 / 2020949
eye13 / 21105461
heart1 / 8962611
intestine12 / 23447251
kidney2 / 2117779
larynx0 / 241450 
liver13 / 20774362
lung12 / 33697435
lymph11 / 44270248
lymph node0 / 916100 
mammary gland4 / 15327126
mouth3 / 6705244
muscle1 / 1077159
nerve2 / 15768126
ovary4 / 10205139
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta6 / 28082521
prostate7 / 18934536
salivary gland0 / 201550 
skin19 / 21057490
spleen1 / 5395218
stomach4 / 9661941
testis8 / 33044224
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208361_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts28.65
Adipocyte5.75
AdrenalCortex6.15
Adrenalgland4.85
Amygdala6.05
Appendix5.8
AtrioventricularNode4.55
BDCA4+_DentriticCells7.95
Bonemarrow5.85
BronchialEpithelialCells5.65
CD105+_Endothelial5.85
CD14+_Monocytes6.1
CD19+_BCells(neg._sel.)9.65
CD33+_Myeloid7.5
CD34+7.65
CD4+_Tcells7.3
CD56+_NKCells7
CD71+_EarlyErythroid5.4
CD8+_Tcells6.9
CardiacMyocytes15.65
Caudatenucleus5.1
Cerebellum4.8
CerebellumPeduncles6.5
CiliaryGanglion4.35
CingulateCortex5.85
Colorectaladenocarcinoma5.8
DorsalRootGanglion4.5
FetalThyroid7.45
Fetalbrain5.75
Fetalliver5
Fetallung4.8
GlobusPallidus4.25
Heart8.3
Hypothalamus6.1
Kidney4.65
Leukemia_chronicMyelogenousK-56214.9
Leukemia_promyelocytic-HL-606.3
Leukemialymphoblastic(MOLT-4)5.85
Liver7.65
Lung6.4
Lymphnode5
Lymphoma_burkitts(Daudi)8.05
Lymphoma_burkitts(Raji)8.65
MedullaOblongata5.25
OccipitalLobe5.1
OlfactoryBulb4.4
Ovary3.8
Pancreas5.05
PancreaticIslet6.2
ParietalLobe6.05
Pituitary6.75
Placenta8.7
Pons5.1
PrefrontalCortex7.1
Prostate6.75
Salivarygland4.6
SkeletalMuscle6.6
Skin4.5
SmoothMuscle12.5
Spinalcord5.45
SubthalamicNucleus5.25
SuperiorCervicalGanglion7
TemporalLobe5.65
Testis13.6
TestisGermCell5.9
TestisIntersitial5.3
TestisLeydigCell6.05
TestisSeminiferousTubule5.1
Thalamus5.8
Thymus5.2
Thyroid7.25
Tongue5.55
Tonsil5.55
Trachea4.85
TrigeminalGanglion5.8
Uterus4.75
UterusCorpus5.15
WholeBlood6.15
Wholebrain4.9
colon5.75
pineal_day7.04
pineal_night7.06
retina6.975
small_intestine5.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1325_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
Amygdala5.11 ± 1.12
Basal Forebrain4.9 ± 0.46
Basal Part of Pons4.32 ± 0.51
Cerebellar Cortex5.17 ± 0.6
Cerebellar Nuclei5.39 ± 1.12
Claustrum5.98 ± 1.19
Epithalamus4.16 ± 0.35
Frontal Lobe4.66 ± 0.72
Globus Pallidus4.54 ± 0.9
Hypothalamus4.73 ± 0.45
Insula4.86 ± 0.54
Limbic Lobe4.83 ± 0.88
Mesencephalon4.96 ± 0.92
Myelencephalon5.05 ± 0.89
Occipital Lobe5.17 ± 0.73
Parietal Lobe4.82 ± 0.68
Pontine Tegmentum5.17 ± 0.67
Striatum4.67 ± 0.71
Subthalamus4.7 ± 0.54
Temporal Lobe4.8 ± 0.72
Thalamus5.02 ± 0.82
White Matter5.27 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Polr3dCBCerebellum23.02
26.88
Polr3dCTXCerebral cortex49.72
38.73
Polr3dHIPHippocampal region26.45
34.05
Polr3dHPFHippocampal formation28.4
30.42
Polr3dHYHypothalamus15.79
12.56
Polr3dLSXLateral septal complex18.88
13.31
Polr3dMBMidbrain14.28
12.82
Polr3dMYMedulla18.53
19.86
Polr3dOLFOlfactory bulb50.05
43
Polr3dPPons13.41
14.54
Polr3dPALPallidum18.56
16.33
Polr3dRHPRetrohippocampal region32.97
26.54
Polr3dsAMYStriatum-like amygdalar nuclei24.23
17.6
Polr3dSTRStriatum20.29
15.63
Polr3dSTRdStriatum dorsal region13.88
10.84
Polr3dSTRvStriatum ventral region37.96
28.12
Polr3dTHThalamus19.04
14.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00079594 16 126 141 TVDVSDMGPSHIINIK Peptide Atlas
RPC4_HUMAN_2 16 2 17 SEGNAAGEPSTPGGPR PRIDE
RPC4_HUMAN_2 23 2 24 SEGNAAGEPSTPGGPRPLLTGAR PRIDE

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