AutismKB 2.0

Annotation Detail for POLA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:POLA1 ( DKFZp686K1672,POLA,p180 )
Gene Full Name: polymerase (DNA directed), alpha 1, catalytic subunit
Band: Xp22.11-p21.3
Quick LinksEntrez ID:5422; OMIM: 312040; Uniprot ID:DPOLA_HUMAN; ENSEMBL ID: ENSG00000101868; HGNC ID: 9173
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 body2 / 7076128
blastocyst2 / 6231932
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult34 / 193912117
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal45 / 336030713
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow2 / 4880140
brain6 / 11009895
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine3 / 23447212
kidney4 / 21177718
larynx0 / 241450 
liver8 / 20774338
lung1 / 3369742
lymph0 / 442700 
lymph node1 / 9161010
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis5 / 33044215
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204835_at
Cell line Expression level Expression bar
721_B_lymphoblasts106.8
Adipocyte5.4
AdrenalCortex5.8
Adrenalgland4.6
Amygdala5.7
Appendix5.7
AtrioventricularNode4.5
BDCA4+_DentriticCells6.55
Bonemarrow5.5
BronchialEpithelialCells5.35
CD105+_Endothelial63.4
CD14+_Monocytes5.8
CD19+_BCells(neg._sel.)5.7
CD33+_Myeloid7.05
CD34+47.45
CD4+_Tcells5.95
CD56+_NKCells7.15
CD71+_EarlyErythroid20.95
CD8+_Tcells5.3
CardiacMyocytes7.2
Caudatenucleus4.9
Cerebellum4.4
CerebellumPeduncles6.2
CiliaryGanglion4.05
CingulateCortex5.65
Colorectaladenocarcinoma5.5
DorsalRootGanglion4.3
FetalThyroid5.3
Fetalbrain5.5
Fetalliver4.8
Fetallung4.5
GlobusPallidus4.05
Heart7
Hypothalamus5.95
Kidney4.4
Leukemia_chronicMyelogenousK-5624.95
Leukemia_promyelocytic-HL-605
Leukemialymphoblastic(MOLT-4)8.9
Liver7.25
Lung5.9
Lymphnode4.7
Lymphoma_burkitts(Daudi)7.75
Lymphoma_burkitts(Raji)7.8
MedullaOblongata5
OccipitalLobe4.9
OlfactoryBulb4.9
Ovary3.7
Pancreas4.4
PancreaticIslet5.85
ParietalLobe5.8
Pituitary6.4
Placenta5.5
Pons5.2
PrefrontalCortex6.75
Prostate6.35
Salivarygland4.4
SkeletalMuscle6.9
Skin4.2
SmoothMuscle6.1
Spinalcord5.85
SubthalamicNucleus5
SuperiorCervicalGanglion7.2
TemporalLobe5.05
Testis4.7
TestisGermCell4.5
TestisIntersitial4.6
TestisLeydigCell5.4
TestisSeminiferousTubule4.7
Thalamus5.55
Thymus4.35
Thyroid6.85
Tongue5.45
Tonsil5.35
Trachea4.5
TrigeminalGanglion5.9
Uterus4.5
UterusCorpus5.05
WholeBlood5.95
Wholebrain4.45
colon5.5
pineal_day8.96
pineal_night6.76
retina6.6
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16524_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
Amygdala4.75 ± 0.51
Basal Forebrain4.68 ± 0.44
Basal Part of Pons4.1 ± 0.64
Cerebellar Cortex4.72 ± 0.3
Cerebellar Nuclei4.52 ± 0.42
Claustrum4.34 ± 0.65
Epithalamus4.71 ± 0.33
Frontal Lobe4.25 ± 0.53
Globus Pallidus4.98 ± 0.79
Hypothalamus3.92 ± 0.57
Insula4.3 ± 0.35
Limbic Lobe4.35 ± 0.6
Mesencephalon4.41 ± 0.6
Myelencephalon4.37 ± 0.55
Occipital Lobe4.67 ± 0.59
Parietal Lobe4.41 ± 0.55
Pontine Tegmentum4.39 ± 0.58
Striatum4.14 ± 0.6
Subthalamus4.31 ± 0.2
Temporal Lobe4.15 ± 0.5
Thalamus4.29 ± 0.55
White Matter5.79 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pola1CBCerebellum0.19
0.22
Pola1CTXCerebral cortex0.29
0.25
Pola1HIPHippocampal region0.2
0.24
Pola1HPFHippocampal formation0.26
0.21
Pola1HYHypothalamus0.27
0.15
Pola1LSXLateral septal complex0.2
0.12
Pola1MBMidbrain0.48
0.43
Pola1MYMedulla0.6
0.68
Pola1OLFOlfactory bulb0.43
0.26
Pola1PPons0.27
0.25
Pola1PALPallidum0.12
0.14
Pola1RHPRetrohippocampal region0.36
0.15
Pola1sAMYStriatum-like amygdalar nuclei0.02
0.12
Pola1STRStriatum0.12
0.13
Pola1STRdStriatum dorsal region0.11
0.15
Pola1STRvStriatum ventral region0.16
0.12
Pola1THThalamus0.3
0.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DPOLA_HUMAN_11 10 11 20 SDSGSFVSSR PRIDE
PAp00072906 14 816 829 LGDEDEEIDGDTNK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved