AutismKB 2.0

Annotation Detail for PRKDC


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Basic Information Top
Gene Symbol:PRKDC ( DNA-PKcs,DNAPK,DNPK1,HYRC,HYRC1,XRCC7,p350 )
Gene Full Name: protein kinase, DNA-activated, catalytic polypeptide
Band: 8q11.21
Quick LinksEntrez ID:5591; OMIM: 600899; Uniprot ID:PRKDC_HUMAN; ENSEMBL ID: ENSG00000121031; HGNC ID: 9413
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 body15 / 70761211
blastocyst12 / 62319192
fetus59 / 564012104
neonate2 / 3109764
infant1 / 2362042
juvenile8 / 55556143
adult233 / 1939121120
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor19 / 94178201
cervical tumor5 / 34366145
chondrosarcoma16 / 82823193
colorectal tumor23 / 114246201
esophageal tumor4 / 17290231
gastrointestinal tumor9 / 11936975
germ cell tumor50 / 263845189
glioma9 / 10688384
head and neck tumor29 / 136302212
kidney tumor9 / 68959130
leukemia12 / 95842125
liver tumor14 / 96359145
lung tumor24 / 103127232
lymphoma11 / 71755153
non-neoplasia2 / 9725020
normal262 / 336030777
ovarian tumor6 / 7668278
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer7 / 10268068
retinoblastoma9 / 46356194
skin tumor11 / 12494988
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites3 / 4001574
bladder7 / 29757235
blood11 / 12347889
bone16 / 71655223
bone marrow5 / 48801102
brain67 / 110098960
cervix5 / 48171103
connective tissue13 / 14925587
ear1 / 1621261
embryonic tissue45 / 215722208
esophagus4 / 20209197
eye22 / 211054104
heart7 / 8962678
intestine29 / 234472123
kidney20 / 21177794
larynx2 / 2414582
liver30 / 207743144
lung41 / 336974121
lymph8 / 44270180
lymph node7 / 9161076
mammary gland26 / 153271169
mouth13 / 67052193
muscle9 / 10771583
nerve4 / 15768253
ovary9 / 10205188
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx17 / 41328411
pituitary gland1 / 1658560
placenta21 / 28082574
prostate19 / 189345100
salivary gland2 / 2015599
skin12 / 21057456
spleen3 / 5395255
stomach5 / 9661951
testis24 / 33044272
thymus6 / 8113173
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus18 / 23287877
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210543_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts94.2
Adipocyte17.75
AdrenalCortex9.2
Adrenalgland7.2
Amygdala9.2
Appendix9.35
AtrioventricularNode6.8
BDCA4+_DentriticCells18.25
Bonemarrow9.65
BronchialEpithelialCells27.45
CD105+_Endothelial39.05
CD14+_Monocytes9.1
CD19+_BCells(neg._sel.)10.25
CD33+_Myeloid19.6
CD34+71.1
CD4+_Tcells11.8
CD56+_NKCells13.75
CD71+_EarlyErythroid9.95
CD8+_Tcells18.6
CardiacMyocytes12.45
Caudatenucleus8.8
Cerebellum7.05
CerebellumPeduncles11.35
CiliaryGanglion7.05
CingulateCortex10.75
Colorectaladenocarcinoma33.15
DorsalRootGanglion7.45
FetalThyroid8.55
Fetalbrain9.35
Fetalliver11.75
Fetallung8.75
GlobusPallidus6.6
Heart10.9
Hypothalamus10.8
Kidney7.25
Leukemia_chronicMyelogenousK-56250.1
Leukemia_promyelocytic-HL-6054.5
Leukemialymphoblastic(MOLT-4)45.35
Liver11.25
Lung7.5
Lymphnode8.25
Lymphoma_burkitts(Daudi)68.1
Lymphoma_burkitts(Raji)26.7
MedullaOblongata9.95
OccipitalLobe9.4
OlfactoryBulb7.4
Ovary6.4
Pancreas12.75
PancreaticIslet8.95
ParietalLobe10.6
Pituitary11.55
Placenta10.4
Pons9.4
PrefrontalCortex11.1
Prostate7.35
Salivarygland7.4
SkeletalMuscle11.95
Skin6.55
SmoothMuscle16.35
Spinalcord9.5
SubthalamicNucleus9.1
SuperiorCervicalGanglion9.45
TemporalLobe10.35
Testis6.35
TestisGermCell10.1
TestisIntersitial8.25
TestisLeydigCell10.9
TestisSeminiferousTubule8.9
Thalamus10.1
Thymus10.65
Thyroid7.85
Tongue9.15
Tonsil18.7
Trachea7.6
TrigeminalGanglion9.35
Uterus8.5
UterusCorpus8.85
WholeBlood10.6
Wholebrain7.65
colon9.95
pineal_day20.62
pineal_night20.98
retina15.4
small_intestine9.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P25204
  • 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
Amygdala5.23 ± 0.44
Basal Forebrain5.26 ± 0.49
Basal Part of Pons5.51 ± 0.28
Cerebellar Cortex5.71 ± 0.31
Cerebellar Nuclei5.49 ± 0.48
Claustrum4.98 ± 0.78
Epithalamus5.75 ± 0.23
Frontal Lobe5.41 ± 0.4
Globus Pallidus5.26 ± 0.3
Hypothalamus5.58 ± 0.26
Insula5.54 ± 0.36
Limbic Lobe5.32 ± 0.45
Mesencephalon5.47 ± 0.48
Myelencephalon5.38 ± 0.47
Occipital Lobe5.39 ± 0.48
Parietal Lobe5.43 ± 0.43
Pontine Tegmentum5.48 ± 0.43
Striatum5.32 ± 0.39
Subthalamus5.71 ± 0.18
Temporal Lobe5.53 ± 0.4
Thalamus5.48 ± 0.41
White Matter5.73 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PrkdcCBCerebellum19.41
23.4
PrkdcCTXCerebral cortex27.11
20.15
PrkdcHIPHippocampal region20.61
21.64
PrkdcHPFHippocampal formation20.15
18.91
PrkdcHYHypothalamus6.64
5.28
PrkdcLSXLateral septal complex8.7
6.04
PrkdcMBMidbrain14.39
14.15
PrkdcMYMedulla22.51
25.71
PrkdcOLFOlfactory bulb30.29
22.64
PrkdcPPons17.91
20.46
PrkdcPALPallidum11.52
9.88
PrkdcRHPRetrohippocampal region19.49
15.12
PrkdcsAMYStriatum-like amygdalar nuclei9.59
6.17
PrkdcSTRStriatum13.58
9.66
PrkdcSTRdStriatum dorsal region10.61
7.75
PrkdcSTRvStriatum ventral region28.55
18.87
PrkdcTHThalamus28.51
24.69
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000367 29 1460 1488 AGLLHNILPSQSTDLHHSVGTELLSLVYK 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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