AutismKB 2.0

Annotation Detail for PNKP


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Basic Information Top
Gene Symbol:PNKP ( MCSZ,PNK )
Gene Full Name: polynucleotide kinase 3'-phosphatase
Band: 19q13.33
Quick LinksEntrez ID:11284; OMIM: 605610; Uniprot ID:PNKP_HUMAN; ENSEMBL ID: ENSG00000039650; HGNC ID: 9154
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
blastocyst2 / 6231932
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult80 / 193912141
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 tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma5 / 10688346
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor8 / 10312777
lymphoma5 / 7175569
non-neoplasia3 / 9725030
normal79 / 336030723
ovarian tumor6 / 7668278
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS26 / 125680206
prostate cancer9 / 10268087
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
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 
blood6 / 12347848
bone4 / 7165555
bone marrow1 / 4880120
brain30 / 110098927
cervix6 / 48171124
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine9 / 23447238
kidney4 / 21177718
larynx0 / 241450 
liver7 / 20774333
lung19 / 33697456
lymph1 / 4427022
lymph node2 / 9161021
mammary gland4 / 15327126
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary6 / 10205158
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate10 / 18934552
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach4 / 9661941
testis7 / 33044221
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218961_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts108.6
Adipocyte14.9
AdrenalCortex22.55
Adrenalgland54.75
Amygdala20.05
Appendix13.1
AtrioventricularNode5.45
BDCA4+_DentriticCells38.3
Bonemarrow14.75
BronchialEpithelialCells37.3
CD105+_Endothelial16.25
CD14+_Monocytes44.05
CD19+_BCells(neg._sel.)41.25
CD33+_Myeloid24.45
CD34+43.75
CD4+_Tcells52.85
CD56+_NKCells32.4
CD71+_EarlyErythroid10.3
CD8+_Tcells33.25
CardiacMyocytes26.75
Caudatenucleus10.75
Cerebellum10.7
CerebellumPeduncles14.55
CiliaryGanglion9.1
CingulateCortex15.4
Colorectaladenocarcinoma79.2
DorsalRootGanglion4.9
FetalThyroid16.7
Fetalbrain13.9
Fetalliver11.45
Fetallung14.55
GlobusPallidus6.45
Heart91.9
Hypothalamus16.95
Kidney12.85
Leukemia_chronicMyelogenousK-56213.95
Leukemia_promyelocytic-HL-6022.85
Leukemialymphoblastic(MOLT-4)35.15
Liver39.6
Lung37.5
Lymphnode11.4
Lymphoma_burkitts(Daudi)24.7
Lymphoma_burkitts(Raji)58.25
MedullaOblongata10.95
OccipitalLobe12.15
OlfactoryBulb10.7
Ovary9.9
Pancreas11.25
PancreaticIslet14.15
ParietalLobe13.3
Pituitary16.3
Placenta15.25
Pons13.05
PrefrontalCortex16.65
Prostate22.1
Salivarygland10.4
SkeletalMuscle15.7
Skin5.9
SmoothMuscle21.45
Spinalcord16.15
SubthalamicNucleus7.3
SuperiorCervicalGanglion14.45
TemporalLobe15.45
Testis14.1
TestisGermCell18.1
TestisIntersitial15.8
TestisLeydigCell14.35
TestisSeminiferousTubule12.9
Thalamus15.45
Thymus21.2
Thyroid44.35
Tongue11.65
Tonsil14.7
Trachea12.7
TrigeminalGanglion10.05
Uterus11.3
UterusCorpus8.65
WholeBlood24.15
Wholebrain15.35
colon15.35
pineal_day16.92
pineal_night18.12
retina20.725
small_intestine14.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16592_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
Amygdala5.51 ± 0.5
Basal Forebrain5.44 ± 0.47
Basal Part of Pons5.35 ± 0.39
Cerebellar Cortex4.98 ± 0.36
Cerebellar Nuclei5.45 ± 0.38
Claustrum6.01 ± 0.71
Epithalamus4.7 ± 0.38
Frontal Lobe5.29 ± 0.52
Globus Pallidus6.07 ± 0.36
Hypothalamus4.84 ± 0.71
Insula5.18 ± 0.34
Limbic Lobe5.41 ± 0.59
Mesencephalon5.35 ± 0.51
Myelencephalon5.38 ± 0.55
Occipital Lobe5.23 ± 0.71
Parietal Lobe5.28 ± 0.55
Pontine Tegmentum5.15 ± 0.62
Striatum5.29 ± 0.61
Subthalamus5.15 ± 0.83
Temporal Lobe5.3 ± 0.51
Thalamus5.28 ± 0.5
White Matter6.16 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PnkpCBCerebellum31.12
34.89
PnkpCTXCerebral cortex61.74
42.39
PnkpHIPHippocampal region53.71
69.81
PnkpHPFHippocampal formation54.92
58.9
PnkpHYHypothalamus25.35
18.3
PnkpLSXLateral septal complex21.08
13.69
PnkpMBMidbrain39.59
35.15
PnkpMYMedulla41.19
43
PnkpOLFOlfactory bulb64.91
49.34
PnkpPPons40.39
38.63
PnkpPALPallidum33.59
29.56
PnkpRHPRetrohippocampal region56.67
45.63
PnkpsAMYStriatum-like amygdalar nuclei28.05
18.29
PnkpSTRStriatum24.56
16.36
PnkpSTRdStriatum dorsal region20.55
13.66
PnkpSTRvStriatum ventral region37.7
24.46
PnkpTHThalamus40.83
32.29
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00145556 20 485 504 QFEAPTLAEGFSAILEIPFR 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


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