AutismKB 2.0

Annotation Detail for POLR2B


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Basic Information Top
Gene Symbol:POLR2B ( POL2RB,RPB2,hRPB140,hsRPB2 )
Gene Full Name: polymerase (RNA) II (DNA directed) polypeptide B, 140kDa
Band: 4q12
Quick LinksEntrez ID:5431; OMIM: 180661; Uniprot ID:RPB2_HUMAN; ENSEMBL ID: ENSG00000047315; HGNC ID: 9188
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 body12 / 70761169
blastocyst13 / 62319208
fetus106 / 564012187
neonate1 / 3109732
infant1 / 2362042
juvenile4 / 5555671
adult204 / 1939121105
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor9 / 9417895
cervical tumor0 / 343660 
chondrosarcoma16 / 82823193
colorectal tumor19 / 114246166
esophageal tumor3 / 17290173
gastrointestinal tumor9 / 11936975
germ cell tumor49 / 263845185
glioma10 / 10688393
head and neck tumor18 / 136302132
kidney tumor9 / 68959130
leukemia3 / 9584231
liver tumor8 / 9635983
lung tumor7 / 10312767
lymphoma5 / 7175569
non-neoplasia9 / 9725092
normal438 / 3360307130
ovarian tumor3 / 7668239
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer8 / 10268077
retinoblastoma10 / 46356215
skin tumor21 / 124949168
soft tissue/muscle tissue tumor16 / 125191127
uterine tumor20 / 90257221
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites1 / 4001524
bladder1 / 2975733
blood3 / 12347824
bone17 / 71655237
bone marrow1 / 4880120
brain175 / 1100989158
cervix4 / 4817183
connective tissue10 / 14925566
ear2 / 16212123
embryonic tissue37 / 215722171
esophagus3 / 20209148
eye25 / 211054118
heart8 / 8962689
intestine27 / 234472115
kidney25 / 211777118
larynx3 / 24145124
liver11 / 20774352
lung25 / 33697474
lymph3 / 4427067
lymph node11 / 91610120
mammary gland10 / 15327165
mouth13 / 67052193
muscle6 / 10771555
nerve1 / 1576863
ovary4 / 10205139
pancreas22 / 214812102
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta26 / 28082592
prostate15 / 18934579
salivary gland1 / 2015549
skin29 / 210574137
spleen2 / 5395237
stomach17 / 96619175
testis73 / 330442220
thymus20 / 81131246
thyroid4 / 4747384
tonsil2 / 16999117
trachea37 / 52413705
umbilical cord0 / 136800 
uterus53 / 232878227
vascular12 / 51780231
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201803_at
Cell line Expression level Expression bar
721_B_lymphoblasts664.5
Adipocyte164.35
AdrenalCortex93.35
Adrenalgland49.85
Amygdala117.25
Appendix51.55
AtrioventricularNode42.6
BDCA4+_DentriticCells581.05
Bonemarrow30.55
BronchialEpithelialCells293.35
CD105+_Endothelial492.2
CD14+_Monocytes379.35
CD19+_BCells(neg._sel.)318.85
CD33+_Myeloid450.95
CD34+741.55
CD4+_Tcells687.15
CD56+_NKCells686.2
CD71+_EarlyErythroid102.2
CD8+_Tcells731.85
CardiacMyocytes143.25
Caudatenucleus67.9
Cerebellum37.15
CerebellumPeduncles94.35
CiliaryGanglion25.05
CingulateCortex90.4
Colorectaladenocarcinoma62.1
DorsalRootGanglion29.6
FetalThyroid111.4
Fetalbrain360.3
Fetalliver80.9
Fetallung113.6
GlobusPallidus55.45
Heart15
Hypothalamus172.85
Kidney46.8
Leukemia_chronicMyelogenousK-562158.65
Leukemia_promyelocytic-HL-60347.05
Leukemialymphoblastic(MOLT-4)403.8
Liver21.75
Lung30.85
Lymphnode182.75
Lymphoma_burkitts(Daudi)263.65
Lymphoma_burkitts(Raji)146.75
MedullaOblongata84.1
OccipitalLobe120.15
OlfactoryBulb54.45
Ovary17.55
Pancreas46.65
PancreaticIslet129.45
ParietalLobe70.05
Pituitary171.05
Placenta117.4
Pons73
PrefrontalCortex216.25
Prostate117.2
Salivarygland96.45
SkeletalMuscle47.15
Skin44.75
SmoothMuscle223.45
Spinalcord127.65
SubthalamicNucleus106.5
SuperiorCervicalGanglion27.85
TemporalLobe91.7
Testis106.7
TestisGermCell185.95
TestisIntersitial138.35
TestisLeydigCell103.75
TestisSeminiferousTubule90.3
Thalamus146.4
Thymus113.45
Thyroid122.7
Tongue50.1
Tonsil122.6
Trachea50.15
TrigeminalGanglion25.35
Uterus94.45
UterusCorpus50.55
WholeBlood238.2
Wholebrain40.85
colon157.3
pineal_day374.52
pineal_night346.76
retina86.775
small_intestine170.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13580_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
Amygdala7.73 ± 0.37
Basal Forebrain7.54 ± 0.3
Basal Part of Pons7.84 ± 0.21
Cerebellar Cortex7.77 ± 0.28
Cerebellar Nuclei7.64 ± 0.42
Claustrum7.94 ± 0.42
Epithalamus7.74 ± 0.24
Frontal Lobe7.67 ± 0.32
Globus Pallidus7.43 ± 0.19
Hypothalamus7.87 ± 0.18
Insula7.68 ± 0.35
Limbic Lobe7.81 ± 0.32
Mesencephalon7.78 ± 0.35
Myelencephalon7.67 ± 0.28
Occipital Lobe7.88 ± 0.28
Parietal Lobe7.72 ± 0.26
Pontine Tegmentum7.7 ± 0.29
Striatum7.53 ± 0.25
Subthalamus7.91 ± 0.32
Temporal Lobe7.7 ± 0.25
Thalamus7.64 ± 0.21
White Matter7.81 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Polr2bCBCerebellum0
0
Polr2bCTXCerebral cortex0
0
Polr2bHIPHippocampal region0
0
Polr2bHPFHippocampal formation0
0
Polr2bHYHypothalamus0
0
Polr2bLSXLateral septal complex0
0
Polr2bMBMidbrain0
0
Polr2bMYMedulla0
0
Polr2bOLFOlfactory bulb0
0
Polr2bPPons0
0
Polr2bPALPallidum0
0
Polr2bRHPRetrohippocampal region0
0
Polr2bsAMYStriatum-like amygdalar nuclei0
0
Polr2bSTRStriatum0
0
Polr2bSTRdStriatum dorsal region0
0
Polr2bSTRvStriatum ventral region0
0
Polr2bTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002403 19 1086 1104 FGEMERDCQIAHGAAQFLR 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