AutismKB 2.0

Annotation Detail for POLH


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Basic Information Top
Gene Symbol:POLH ( FLJ16395,FLJ21978,RAD30,RAD30A,XP-V,XPV )
Gene Full Name: polymerase (DNA directed), eta
Band: 6p21.1
Quick LinksEntrez ID:5429; OMIM: 603968; Uniprot ID:POLH_HUMAN; ENSEMBL ID: ENSG00000170734; HGNC ID: 9181
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
blastocyst0 / 623190 
fetus10 / 56401217
neonate3 / 3109796
infant0 / 236200 
juvenile3 / 5555653
adult41 / 193912121
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) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor8 / 13630258
kidney tumor2 / 6895929
leukemia5 / 9584252
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma17 / 71755236
non-neoplasia1 / 9725010
normal97 / 336030728
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow3 / 4880161
brain22 / 110098919
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye4 / 21105418
heart3 / 8962633
intestine8 / 23447234
kidney11 / 21177751
larynx2 / 2414582
liver5 / 20774324
lung3 / 3369748
lymph17 / 44270384
lymph node19 / 91610207
mammary gland4 / 15327126
mouth6 / 6705289
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin11 / 21057452
spleen0 / 539520 
stomach4 / 9661941
testis21 / 33044263
thymus7 / 8113186
thyroid2 / 4747342
tonsil1 / 1699958
trachea6 / 52413114
umbilical cord0 / 136800 
uterus6 / 23287825
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219380_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts20.1
Adipocyte28.95
AdrenalCortex87.6
Adrenalgland34.95
Amygdala19.95
Appendix79.3
AtrioventricularNode111.5
BDCA4+_DentriticCells23.25
Bonemarrow49.1
BronchialEpithelialCells26.95
CD105+_Endothelial41.9
CD14+_Monocytes67.05
CD19+_BCells(neg._sel.)40.45
CD33+_Myeloid39.65
CD34+54.25
CD4+_Tcells29.1
CD56+_NKCells34.2
CD71+_EarlyErythroid37
CD8+_Tcells33.25
CardiacMyocytes92.65
Caudatenucleus33.05
Cerebellum27.7
CerebellumPeduncles81.8
CiliaryGanglion95.4
CingulateCortex48.05
Colorectaladenocarcinoma138.45
DorsalRootGanglion63.55
FetalThyroid57.7
Fetalbrain35.5
Fetalliver25.7
Fetallung18.05
GlobusPallidus45.8
Heart98.55
Hypothalamus27.85
Kidney37.75
Leukemia_chronicMyelogenousK-56228.15
Leukemia_promyelocytic-HL-6027.4
Leukemialymphoblastic(MOLT-4)21.4
Liver73.35
Lung35.95
Lymphnode26.9
Lymphoma_burkitts(Daudi)50.45
Lymphoma_burkitts(Raji)59.55
MedullaOblongata22.7
OccipitalLobe37.35
OlfactoryBulb28.15
Ovary49.65
Pancreas41.45
PancreaticIslet43.1
ParietalLobe50.85
Pituitary48.45
Placenta24.15
Pons47.4
PrefrontalCortex31.5
Prostate35.5
Salivarygland45.3
SkeletalMuscle98
Skin82.55
SmoothMuscle45.2
Spinalcord30.9
SubthalamicNucleus91
SuperiorCervicalGanglion112.3
TemporalLobe49.4
Testis24.55
TestisGermCell26.35
TestisIntersitial42.3
TestisLeydigCell52
TestisSeminiferousTubule40.25
Thalamus44.9
Thymus20.7
Thyroid31.3
Tongue81.45
Tonsil44.1
Trachea25.4
TrigeminalGanglion103.2
Uterus21.7
UterusCorpus54.2
WholeBlood32.55
Wholebrain16.6
colon25.6
pineal_day83.26
pineal_night51.64
retina39.9
small_intestine25.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P77826
  • 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
Amygdala2.35 ± 1.2
Basal Forebrain1.93 ± 0.58
Basal Part of Pons1.68 ± 0.49
Cerebellar Cortex2.37 ± 0.72
Cerebellar Nuclei2.34 ± 0.74
Claustrum2.92 ± 1.05
Epithalamus1.76 ± 0.69
Frontal Lobe1.87 ± 0.81
Globus Pallidus2.67 ± 0.94
Hypothalamus1.92 ± 0.7
Insula1.68 ± 0.61
Limbic Lobe1.98 ± 0.84
Mesencephalon2.14 ± 0.83
Myelencephalon2.04 ± 0.77
Occipital Lobe2.32 ± 0.95
Parietal Lobe2.04 ± 0.93
Pontine Tegmentum2.13 ± 0.91
Striatum1.9 ± 0.85
Subthalamus1.91 ± 0.66
Temporal Lobe1.87 ± 0.76
Thalamus1.95 ± 0.71
White Matter1.94 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PolhCBCerebellum4.4
4.48
PolhCTXCerebral cortex3.53
3.07
PolhHIPHippocampal region3.33
2.96
PolhHPFHippocampal formation3.93
3.33
PolhHYHypothalamus0.22
0.22
PolhLSXLateral septal complex0.41
0.35
PolhMBMidbrain0.72
1.01
PolhMYMedulla4.16
4.79
PolhOLFOlfactory bulb5.96
5.07
PolhPPons2.62
3.5
PolhPALPallidum0.3
0.25
PolhRHPRetrohippocampal region4.91
3.83
PolhsAMYStriatum-like amygdalar nuclei0.25
0.17
PolhSTRStriatum0.63
0.6
PolhSTRdStriatum dorsal region0.91
0.87
PolhSTRvStriatum ventral region0.14
0.19
PolhTHThalamus0.39
0.4
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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