AutismKB 2.0

Annotation Detail for POLDIP3


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Basic Information Top
Gene Symbol:POLDIP3 ( KIAA1649,PDIP46,SKAR )
Gene Full Name: polymerase (DNA-directed), delta interacting protein 3
Band: 22q13.2
Quick LinksEntrez ID:84271; OMIM: 611520; Uniprot ID:PDIP3_HUMAN; ENSEMBL ID: ENSG00000100227; HGNC ID: 23782
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 body23 / 70761325
blastocyst16 / 62319256
fetus137 / 564012242
neonate2 / 3109764
infant0 / 236200 
juvenile8 / 55556143
adult249 / 1939121128
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor3 / 3436687
chondrosarcoma11 / 82823132
colorectal tumor17 / 114246148
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor102 / 263845386
glioma29 / 106883271
head and neck tumor39 / 136302286
kidney tumor10 / 68959145
leukemia19 / 95842198
liver tumor15 / 96359155
lung tumor11 / 103127106
lymphoma27 / 71755376
non-neoplasia15 / 97250154
normal606 / 3360307180
ovarian tumor8 / 76682104
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS42 / 125680334
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor40 / 124949320
soft tissue/muscle tissue tumor33 / 125191263
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites5 / 40015124
bladder3 / 29757100
blood16 / 123478129
bone5 / 7165569
bone marrow6 / 48801122
brain375 / 1100989340
cervix9 / 48171186
connective tissue28 / 149255187
ear1 / 1621261
embryonic tissue47 / 215722217
esophagus1 / 2020949
eye18 / 21105485
heart12 / 89626133
intestine23 / 23447298
kidney19 / 21177789
larynx3 / 24145124
liver18 / 20774386
lung31 / 33697491
lymph21 / 44270474
lymph node17 / 91610185
mammary gland15 / 15327197
mouth33 / 67052492
muscle24 / 107715222
nerve0 / 157680 
ovary19 / 102051186
pancreas14 / 21481265
parathyroid2 / 2053997
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta65 / 280825231
prostate12 / 18934563
salivary gland0 / 201550 
skin44 / 210574208
spleen8 / 53952148
stomach5 / 9661951
testis108 / 330442326
thymus92 / 811311133
thyroid3 / 4747363
tonsil0 / 169990 
trachea47 / 52413896
umbilical cord5 / 13680365
uterus40 / 232878171
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210583_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.35
Adipocyte11.4
AdrenalCortex12.45
Adrenalgland11.7
Amygdala11.75
Appendix36.65
AtrioventricularNode13.8
BDCA4+_DentriticCells12.45
Bonemarrow13.5
BronchialEpithelialCells10.05
CD105+_Endothelial10.9
CD14+_Monocytes11.15
CD19+_BCells(neg._sel.)11.2
CD33+_Myeloid13.7
CD34+12.6
CD4+_Tcells11.5
CD56+_NKCells12.2
CD71+_EarlyErythroid10.85
CD8+_Tcells8.35
CardiacMyocytes14.75
Caudatenucleus15.75
Cerebellum16.8
CerebellumPeduncles21.95
CiliaryGanglion16
CingulateCortex20.6
Colorectaladenocarcinoma10.5
DorsalRootGanglion17.95
FetalThyroid13.9
Fetalbrain12.5
Fetalliver10.35
Fetallung9.65
GlobusPallidus15.35
Heart14.2
Hypothalamus12.75
Kidney13.25
Leukemia_chronicMyelogenousK-56210.65
Leukemia_promyelocytic-HL-6010.45
Leukemialymphoblastic(MOLT-4)11.7
Liver15.75
Lung19.75
Lymphnode10.15
Lymphoma_burkitts(Daudi)23
Lymphoma_burkitts(Raji)14.15
MedullaOblongata14.05
OccipitalLobe11.85
OlfactoryBulb11.9
Ovary10.4
Pancreas9.15
PancreaticIslet12.4
ParietalLobe17.95
Pituitary16.8
Placenta10.55
Pons17.25
PrefrontalCortex14.15
Prostate13.3
Salivarygland9.45
SkeletalMuscle26.15
Skin18.9
SmoothMuscle17.9
Spinalcord12.85
SubthalamicNucleus10.95
SuperiorCervicalGanglion16
TemporalLobe16.75
Testis10.85
TestisGermCell9.5
TestisIntersitial9.9
TestisLeydigCell19.8
TestisSeminiferousTubule17.7
Thalamus16.35
Thymus8.85
Thyroid13.25
Tongue12.3
Tonsil11.45
Trachea11.5
TrigeminalGanglion12.05
Uterus7.85
UterusCorpus10.6
WholeBlood12.45
Wholebrain9.2
colon9.55
pineal_day12.4
pineal_night9.44
retina12.25
small_intestine9.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5510_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
Amygdala4.46 ± 0.45
Basal Forebrain4.46 ± 0.44
Basal Part of Pons4.47 ± 0.38
Cerebellar Cortex4.54 ± 0.64
Cerebellar Nuclei4.46 ± 0.46
Claustrum4.1 ± 0.85
Epithalamus4.35 ± 0.45
Frontal Lobe4.18 ± 0.43
Globus Pallidus4.73 ± 0.48
Hypothalamus3.74 ± 0.8
Insula4.21 ± 0.5
Limbic Lobe4.32 ± 0.49
Mesencephalon4.22 ± 0.56
Myelencephalon4.26 ± 0.53
Occipital Lobe4.44 ± 0.47
Parietal Lobe4.29 ± 0.63
Pontine Tegmentum4.37 ± 0.57
Striatum4.47 ± 0.57
Subthalamus4.33 ± 0.46
Temporal Lobe4.2 ± 0.48
Thalamus4.25 ± 0.52
White Matter5.58 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Poldip3CBCerebellum2.46
3.18
Poldip3CTXCerebral cortex1.62
1.33
Poldip3HIPHippocampal region2.12
2.16
Poldip3HPFHippocampal formation1.43
1.4
Poldip3HYHypothalamus2.4
3.77
Poldip3LSXLateral septal complex0.53
0.56
Poldip3MBMidbrain1.77
1.75
Poldip3MYMedulla1.74
1.77
Poldip3OLFOlfactory bulb2.66
2.64
Poldip3PPons1.26
1.22
Poldip3PALPallidum0.53
0.63
Poldip3RHPRetrohippocampal region0.33
0.34
Poldip3sAMYStriatum-like amygdalar nuclei0.93
1.1
Poldip3STRStriatum0.91
0.89
Poldip3STRdStriatum dorsal region1
0.99
Poldip3STRvStriatum ventral region0.73
0.62
Poldip3THThalamus0.97
0.97
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001230 19 346 364 CNLHMNGNVITSDQPILLR Peptide Atlas
PDIP3_HUMAN_156 13 156 168 AMAPLHPHPAGMR PRIDE
PDIP3_HUMAN_2 10 2 11 ADISLDELIR PRIDE
PDIP3_HUMAN_201 18 201 218 FAASGGFLHHMAGLSSSK PRIDE
PDIP3_HUMAN_282 9 282 290 MTVNNLHPR PRIDE
PDIP3_HUMAN_86 10 86 95 RIKGKVQDAR 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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