AutismKB 2.0

Annotation Detail for POLR2K


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Basic Information Top
Gene Symbol:POLR2K ( ABC10-alpha,RPABC4,RPB10alpha,RPB12,RPB7.0,hRPB7.0,hsRPB10a )
Gene Full Name: polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa
Band: 8q22.2
Quick LinksEntrez ID:5440; OMIM: 606033; Uniprot ID:RPAB4_HUMAN; ENSEMBL ID: ENSG00000147669; HGNC ID: 9198
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
blastocyst3 / 6231948
fetus33 / 56401258
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult97 / 193912150
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma33 / 174751888
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor12 / 26384545
glioma16 / 106883149
head and neck tumor20 / 136302146
kidney tumor2 / 6895929
leukemia18 / 95842187
liver tumor6 / 9635962
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal176 / 336030752
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer16 / 102680155
retinoblastoma4 / 4635686
skin tumor3 / 12494924
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder33 / 297571108
blood11 / 12347889
bone6 / 7165583
bone marrow15 / 48801307
brain69 / 110098962
cervix1 / 4817120
connective tissue2 / 14925513
ear3 / 16212185
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye10 / 21105447
heart3 / 8962633
intestine4 / 23447217
kidney9 / 21177742
larynx18 / 24145745
liver15 / 20774372
lung25 / 33697474
lymph0 / 442700 
lymph node11 / 91610120
mammary gland3 / 15327119
mouth1 / 6705214
muscle7 / 10771564
nerve0 / 157680 
ovary4 / 10205139
pancreas7 / 21481232
parathyroid5 / 20539243
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta9 / 28082532
prostate20 / 189345105
salivary gland4 / 20155198
skin8 / 21057437
spleen0 / 539520 
stomach8 / 9661982
testis17 / 33044251
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus13 / 23287855
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202634_at
Cell line Expression level Expression bar
721_B_lymphoblasts57.95
Adipocyte59.95
AdrenalCortex32.6
Adrenalgland56.55
Amygdala95.05
Appendix44.15
AtrioventricularNode29.05
BDCA4+_DentriticCells48.9
Bonemarrow45.95
BronchialEpithelialCells76.15
CD105+_Endothelial74.65
CD14+_Monocytes50.45
CD19+_BCells(neg._sel.)74.25
CD33+_Myeloid39.4
CD34+72.3
CD4+_Tcells36.55
CD56+_NKCells95.75
CD71+_EarlyErythroid52.1
CD8+_Tcells23.3
CardiacMyocytes57.55
Caudatenucleus66.85
Cerebellum53.2
CerebellumPeduncles68
CiliaryGanglion40.9
CingulateCortex74.85
Colorectaladenocarcinoma45.5
DorsalRootGanglion35.7
FetalThyroid54.85
Fetalbrain45.15
Fetalliver40.95
Fetallung30.6
GlobusPallidus57.2
Heart45
Hypothalamus57.35
Kidney36.85
Leukemia_chronicMyelogenousK-56264
Leukemia_promyelocytic-HL-6094.2
Leukemialymphoblastic(MOLT-4)47.25
Liver28.8
Lung30.65
Lymphnode44
Lymphoma_burkitts(Daudi)54.3
Lymphoma_burkitts(Raji)70.85
MedullaOblongata40.15
OccipitalLobe68
OlfactoryBulb26.7
Ovary25.8
Pancreas25.85
PancreaticIslet46.3
ParietalLobe48.2
Pituitary46.35
Placenta38.6
Pons52.5
PrefrontalCortex122.3
Prostate38.15
Salivarygland36.2
SkeletalMuscle37.2
Skin47.2
SmoothMuscle62.9
Spinalcord106.15
SubthalamicNucleus52.05
SuperiorCervicalGanglion47.45
TemporalLobe46.9
Testis28.95
TestisGermCell28.8
TestisIntersitial29.85
TestisLeydigCell32.85
TestisSeminiferousTubule30.1
Thalamus81.25
Thymus38.9
Thyroid66.45
Tongue32
Tonsil42.55
Trachea43.6
TrigeminalGanglion36.45
Uterus51.8
UterusCorpus31.85
WholeBlood65.9
Wholebrain77.05
colon114.3
pineal_day69.3
pineal_night80.62
retina103.675
small_intestine74.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P56584
  • 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
Amygdala2.65 ± 1.09
Basal Forebrain2.07 ± 0.24
Basal Part of Pons2.01 ± 0.76
Cerebellar Cortex2.24 ± 0.84
Cerebellar Nuclei2.39 ± 0.73
Claustrum2.98 ± 0.76
Epithalamus2 ± 0.68
Frontal Lobe2.06 ± 0.74
Globus Pallidus2.31 ± 0.39
Hypothalamus2.19 ± 0.63
Insula1.91 ± 0.33
Limbic Lobe2.06 ± 0.62
Mesencephalon2.3 ± 0.74
Myelencephalon2.13 ± 0.64
Occipital Lobe2.02 ± 0.42
Parietal Lobe2.21 ± 0.71
Pontine Tegmentum2.12 ± 0.61
Striatum2.03 ± 0.52
Subthalamus2.35 ± 0.76
Temporal Lobe2.03 ± 0.67
Thalamus2.04 ± 0.62
White Matter2.96 ± 1.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Polr2kCBCerebellum1.3
1.67
Polr2kCTXCerebral cortex3.77
1.39
Polr2kHIPHippocampal region0.84
0.73
Polr2kHPFHippocampal formation0.99
0.84
Polr2kHYHypothalamus0.12
0.07
Polr2kLSXLateral septal complex1.06
0.27
Polr2kMBMidbrain0.5
0.48
Polr2kMYMedulla1.11
0.79
Polr2kOLFOlfactory bulb6.65
2.57
Polr2kPPons0.46
0.32
Polr2kPALPallidum0.09
0.05
Polr2kRHPRetrohippocampal region1.27
1.04
Polr2ksAMYStriatum-like amygdalar nuclei0.83
0.23
Polr2kSTRStriatum0.57
0.28
Polr2kSTRdStriatum dorsal region0.63
0.36
Polr2kSTRvStriatum ventral region0.16
0.11
Polr2kTHThalamus0.34
0.3
Peptide Top

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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