AutismKB 2.0

Annotation Detail for POLD2


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Basic Information Top
Gene Symbol:POLD2 ( - )
Gene Full Name: polymerase (DNA directed), delta 2, regulatory subunit 50kDa
Band: 7p13
Quick LinksEntrez ID:5425; OMIM: 600815; Uniprot ID:DPOD2_HUMAN; ENSEMBL ID: ENSG00000106628; HGNC ID: 9176
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 body5 / 7076170
blastocyst5 / 6231980
fetus47 / 56401283
neonate0 / 310970 
infant9 / 23620381
juvenile25 / 55556449
adult210 / 1939121108
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma2 / 17475114
breast (mammary gland) tumor5 / 9417853
cervical tumor14 / 34366407
chondrosarcoma14 / 82823169
colorectal tumor23 / 114246201
esophageal tumor0 / 172900 
gastrointestinal tumor33 / 119369276
germ cell tumor40 / 263845151
glioma25 / 106883233
head and neck tumor34 / 136302249
kidney tumor22 / 68959319
leukemia16 / 95842166
liver tumor23 / 96359238
lung tumor47 / 103127455
lymphoma29 / 71755404
non-neoplasia5 / 9725051
normal267 / 336030779
ovarian tumor21 / 76682273
pancreatic tumor25 / 104616238
primitive neuroectodermal tumor of the CNS67 / 125680533
prostate cancer23 / 102680223
retinoblastoma12 / 46356258
skin tumor46 / 124949368
soft tissue/muscle tissue tumor39 / 125191311
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland6 / 33197180
ascites24 / 40015599
bladder3 / 29757100
blood27 / 123478218
bone18 / 71655251
bone marrow6 / 48801122
brain114 / 1100989103
cervix15 / 48171311
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue29 / 215722134
esophagus0 / 202090 
eye27 / 211054127
heart4 / 8962644
intestine40 / 234472170
kidney34 / 211777160
larynx0 / 241450 
liver29 / 207743139
lung65 / 336974192
lymph18 / 44270406
lymph node6 / 9161065
mammary gland10 / 15327165
mouth1 / 6705214
muscle13 / 107715120
nerve2 / 15768126
ovary27 / 102051264
pancreas30 / 214812139
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta39 / 280825138
prostate28 / 189345147
salivary gland28 / 201551389
skin48 / 210574227
spleen3 / 5395255
stomach8 / 9661982
testis34 / 330442102
thymus7 / 8113186
thyroid7 / 47473147
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus51 / 232878218
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201115_at
Cell line Expression level Expression bar
721_B_lymphoblasts531.75
Adipocyte109.4
AdrenalCortex41.5
Adrenalgland40.8
Amygdala46.75
Appendix39.8
AtrioventricularNode28.1
BDCA4+_DentriticCells85.1
Bonemarrow44.95
BronchialEpithelialCells94.1
CD105+_Endothelial214.45
CD14+_Monocytes45.5
CD19+_BCells(neg._sel.)45.45
CD33+_Myeloid47.1
CD34+305.35
CD4+_Tcells62.4
CD56+_NKCells50.95
CD71+_EarlyErythroid90.95
CD8+_Tcells77.45
CardiacMyocytes84.35
Caudatenucleus40.8
Cerebellum35.05
CerebellumPeduncles54.5
CiliaryGanglion25.7
CingulateCortex42.25
Colorectaladenocarcinoma191.65
DorsalRootGanglion27.5
FetalThyroid44.7
Fetalbrain36.45
Fetalliver39.3
Fetallung41.15
GlobusPallidus25.35
Heart149
Hypothalamus39.1
Kidney41.65
Leukemia_chronicMyelogenousK-562169
Leukemia_promyelocytic-HL-60176.3
Leukemialymphoblastic(MOLT-4)197.95
Liver307.95
Lung90.65
Lymphnode29.6
Lymphoma_burkitts(Daudi)408.55
Lymphoma_burkitts(Raji)592.3
MedullaOblongata26.6
OccipitalLobe22.35
OlfactoryBulb33.5
Ovary27.5
Pancreas29.05
PancreaticIslet45.4
ParietalLobe39.9
Pituitary63.95
Placenta33.6
Pons36.8
PrefrontalCortex52.8
Prostate72.35
Salivarygland33.7
SkeletalMuscle51.15
Skin30.1
SmoothMuscle58.45
Spinalcord58.55
SubthalamicNucleus37.2
SuperiorCervicalGanglion37.4
TemporalLobe40.5
Testis76.25
TestisGermCell30.75
TestisIntersitial34.45
TestisLeydigCell43.5
TestisSeminiferousTubule46
Thalamus50
Thymus67.6
Thyroid109.75
Tongue50.6
Tonsil43.05
Trachea32.8
TrigeminalGanglion31.8
Uterus35.8
UterusCorpus39.95
WholeBlood31.6
Wholebrain44.85
colon63.25
pineal_day95.06
pineal_night83.02
retina105.975
small_intestine78.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P71146
  • 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
Amygdala4.31 ± 0.63
Basal Forebrain4.55 ± 0.68
Basal Part of Pons4.81 ± 0.55
Cerebellar Cortex4.88 ± 0.55
Cerebellar Nuclei3.76 ± 0.59
Claustrum3.81 ± 0.87
Epithalamus5.28 ± 0.64
Frontal Lobe4.63 ± 0.54
Globus Pallidus4.19 ± 0.27
Hypothalamus4.3 ± 0.67
Insula4.7 ± 0.43
Limbic Lobe4.26 ± 0.71
Mesencephalon4.5 ± 0.59
Myelencephalon4.48 ± 0.66
Occipital Lobe4 ± 0.71
Parietal Lobe4.39 ± 0.61
Pontine Tegmentum4.31 ± 0.64
Striatum4.05 ± 0.61
Subthalamus4.67 ± 0.19
Temporal Lobe4.69 ± 0.6
Thalamus4.62 ± 0.58
White Matter4.95 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pold2CBCerebellum1.03
1.54
Pold2CTXCerebral cortex1.67
1.96
Pold2HIPHippocampal region1.24
2.26
Pold2HPFHippocampal formation1.07
1.66
Pold2HYHypothalamus2
4.4
Pold2LSXLateral septal complex0.09
0
Pold2MBMidbrain0.85
2.08
Pold2MYMedulla0.84
1.22
Pold2OLFOlfactory bulb4.1
4.21
Pold2PPons2.61
6.89
Pold2PALPallidum0.66
1.27
Pold2RHPRetrohippocampal region0.49
0.48
Pold2sAMYStriatum-like amygdalar nuclei1.6
2.95
Pold2STRStriatum0.67
0.88
Pold2STRdStriatum dorsal region0.27
0.34
Pold2STRvStriatum ventral region1.7
1.69
Pold2THThalamus0.26
0.42
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DPOD2_HUMAN_1 9 1 9 MFSEQAAQR PRIDE
DPOD2_HUMAN_49 9 49 57 QYAHIYATR PRIDE
DPOD2_HUMAN_63 6 63 68 PFLENR PRIDE
PAp00003384 17 373 389 HISPTAPDTLGCYPFYK Peptide Atlas

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  (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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