AutismKB 2.0

Annotation Detail for POLR2A


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Basic Information Top
Gene Symbol:POLR2A ( MGC75453,POLR2,POLRA,RPB1,RPBh1,RPO2,RPOL2,RpIILS,hRPB220,hsRPB1 )
Gene Full Name: polymerase (RNA) II (DNA directed) polypeptide A, 220kDa
Band: 17p13.1
Quick LinksEntrez ID:5430; OMIM: 180660; Uniprot ID:RPB1_HUMAN; ENSEMBL ID: ENSG00000181222; HGNC ID: 9187
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 body7 / 7076198
blastocyst4 / 6231964
fetus29 / 56401251
neonate5 / 31097160
infant0 / 236200 
juvenile6 / 55556107
adult289 / 1939121149
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor43 / 94178456
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor29 / 114246253
esophageal tumor1 / 1729057
gastrointestinal tumor11 / 11936992
germ cell tumor15 / 26384556
glioma8 / 10688374
head and neck tumor28 / 136302205
kidney tumor9 / 68959130
leukemia43 / 95842448
liver tumor6 / 9635962
lung tumor22 / 103127213
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal207 / 336030761
ovarian tumor11 / 76682143
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer14 / 102680136
retinoblastoma4 / 4635686
skin tumor10 / 12494980
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder2 / 2975767
blood31 / 123478251
bone6 / 7165583
bone marrow11 / 48801225
brain47 / 110098942
cervix2 / 4817141
connective tissue5 / 14925533
ear2 / 16212123
embryonic tissue16 / 21572274
esophagus1 / 2020949
eye19 / 21105490
heart1 / 8962611
intestine41 / 234472174
kidney13 / 21177761
larynx10 / 24145414
liver13 / 20774362
lung44 / 336974130
lymph2 / 4427045
lymph node11 / 91610120
mammary gland56 / 153271365
mouth13 / 67052193
muscle8 / 10771574
nerve0 / 157680 
ovary11 / 102051107
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta16 / 28082556
prostate24 / 189345126
salivary gland0 / 201550 
skin25 / 210574118
spleen2 / 5395237
stomach11 / 96619113
testis18 / 33044254
thymus8 / 8113198
thyroid10 / 47473210
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord4 / 13680292
uterus13 / 23287855
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217420_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8
Adipocyte7.05
AdrenalCortex9.7
Adrenalgland6.65
Amygdala7.2
Appendix8.85
AtrioventricularNode7.65
BDCA4+_DentriticCells7.75
Bonemarrow8.25
BronchialEpithelialCells7.05
CD105+_Endothelial7.35
CD14+_Monocytes7.9
CD19+_BCells(neg._sel.)7.5
CD33+_Myeloid9.05
CD34+8.55
CD4+_Tcells7.45
CD56+_NKCells8.1
CD71+_EarlyErythroid7.05
CD8+_Tcells6.85
CardiacMyocytes12.65
Caudatenucleus6.5
Cerebellum6.05
CerebellumPeduncles9.1
CiliaryGanglion6.55
CingulateCortex7.75
Colorectaladenocarcinoma7.4
DorsalRootGanglion6.8
FetalThyroid7.3
Fetalbrain6.8
Fetalliver6.45
Fetallung5.45
GlobusPallidus5.95
Heart12.05
Hypothalamus7.4
Kidney6.6
Leukemia_chronicMyelogenousK-5626.5
Leukemia_promyelocytic-HL-606.5
Leukemialymphoblastic(MOLT-4)5.55
Liver11.45
Lung7.95
Lymphnode5.9
Lymphoma_burkitts(Daudi)9.75
Lymphoma_burkitts(Raji)11.5
MedullaOblongata6.6
OccipitalLobe6.5
OlfactoryBulb5.65
Ovary5.5
Pancreas6.2
PancreaticIslet7.95
ParietalLobe8.15
Pituitary8.45
Placenta7.1
Pons7.35
PrefrontalCortex8.45
Prostate8.25
Salivarygland6.25
SkeletalMuscle11.1
Skin6.85
SmoothMuscle8.25
Spinalcord7.6
SubthalamicNucleus7.45
SuperiorCervicalGanglion11.15
TemporalLobe6.95
Testis6.25
TestisGermCell5.75
TestisIntersitial6.3
TestisLeydigCell7.65
TestisSeminiferousTubule6.25
Thalamus7.6
Thymus5.55
Thyroid8.7
Tongue8.4
Tonsil7.25
Trachea6.05
TrigeminalGanglion9.75
Uterus5.7
UterusCorpus7.9
WholeBlood7.9
Wholebrain5.75
colon7.3
pineal_day8.72
pineal_night8.64
retina8.8
small_intestine6.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P308128
  • 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
Amygdala3.72 ± 0.75
Basal Forebrain3.45 ± 0.43
Basal Part of Pons3.38 ± 0.39
Cerebellar Cortex3.84 ± 0.53
Cerebellar Nuclei3.76 ± 0.44
Claustrum4.16 ± 0.66
Epithalamus3.96 ± 0.5
Frontal Lobe3.77 ± 0.53
Globus Pallidus3.09 ± 0.72
Hypothalamus3.26 ± 0.51
Insula3.53 ± 0.47
Limbic Lobe3.72 ± 0.53
Mesencephalon3.8 ± 0.6
Myelencephalon3.7 ± 0.58
Occipital Lobe3.56 ± 0.65
Parietal Lobe3.69 ± 0.62
Pontine Tegmentum3.69 ± 0.59
Striatum3.51 ± 0.63
Subthalamus3.64 ± 0.7
Temporal Lobe3.73 ± 0.51
Thalamus3.53 ± 0.61
White Matter4.73 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Polr2aCBCerebellum33.47
41.56
Polr2aCTXCerebral cortex50.09
39.73
Polr2aHIPHippocampal region41.06
66.13
Polr2aHPFHippocampal formation45.2
57.14
Polr2aHYHypothalamus17.02
14.15
Polr2aLSXLateral septal complex25.74
21.16
Polr2aMBMidbrain20.58
19.03
Polr2aMYMedulla25.37
29.94
Polr2aOLFOlfactory bulb49.94
44.62
Polr2aPPons25.58
29.27
Polr2aPALPallidum8.74
7.72
Polr2aRHPRetrohippocampal region51.43
45.4
Polr2asAMYStriatum-like amygdalar nuclei17.22
13.99
Polr2aSTRStriatum14.27
11.6
Polr2aSTRdStriatum dorsal region14.97
12.62
Polr2aSTRvStriatum ventral region5.27
3.38
Polr2aTHThalamus32.83
30.24
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002936 30 150 179 GKNICEGGEEMDNKFGVEQPEGDEDLTKEK Peptide Atlas
RPB1_HUMAN_262 10 262 271 PAVVMQGSAR PRIDE
RPB1_HUMAN_309 19 309 327 LLQFHVATMVDNELPGLPR PRIDE
RPB1_HUMAN_320 8 320 327 NELPGLPR PRIDE
RPB1_HUMAN_383 19 383 401 SIAANMTFAEIVTPFNIDR 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


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