AutismKB 2.0

Annotation Detail for PBK


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PBK ( CT84,FLJ14385,Nori-3,SPK,TOPK )
Gene Full Name: PDZ binding kinase
Band: 8p21.1
Quick LinksEntrez ID:55872; OMIM: 611210; Uniprot ID:TOPK_HUMAN; ENSEMBL ID: ENSG00000168078; HGNC ID: 18282
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 body2 / 7076128
blastocyst1 / 6231916
fetus36 / 56401263
neonate0 / 310970 
infant13 / 23620550
juvenile1 / 5555617
adult39 / 193912120
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) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor12 / 26384545
glioma9 / 10688384
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor6 / 9635962
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal117 / 336030734
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor9 / 12494972
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites5 / 40015124
bladder0 / 297570 
blood2 / 12347816
bone6 / 7165583
bone marrow1 / 4880120
brain37 / 110098933
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye3 / 21105414
heart1 / 8962611
intestine1 / 2344724
kidney15 / 21177770
larynx0 / 241450 
liver21 / 207743101
lung3 / 3369748
lymph0 / 442700 
lymph node9 / 9161098
mammary gland5 / 15327132
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate2 / 18934510
salivary gland1 / 2015549
skin10 / 21057447
spleen0 / 539520 
stomach3 / 9661931
testis68 / 330442205
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219148_at
Cell line Expression level Expression bar
721_B_lymphoblasts309.45
Adipocyte5.8
AdrenalCortex7.05
Adrenalgland5.4
Amygdala6.05
Appendix6.85
AtrioventricularNode6.05
BDCA4+_DentriticCells6.3
Bonemarrow6.4
BronchialEpithelialCells14
CD105+_Endothelial199.85
CD14+_Monocytes6.35
CD19+_BCells(neg._sel.)6.2
CD33+_Myeloid7.8
CD34+23.7
CD4+_Tcells6.35
CD56+_NKCells7
CD71+_EarlyErythroid157.3
CD8+_Tcells5.75
CardiacMyocytes57.45
Caudatenucleus5.35
Cerebellum4.9
CerebellumPeduncles7.1
CiliaryGanglion5
CingulateCortex6.25
Colorectaladenocarcinoma17.5
DorsalRootGanglion5.05
FetalThyroid5.9
Fetalbrain5.8
Fetalliver10.8
Fetallung4.8
GlobusPallidus4.75
Heart8.85
Hypothalamus6.25
Kidney5.25
Leukemia_chronicMyelogenousK-56292.25
Leukemia_promyelocytic-HL-6065.8
Leukemialymphoblastic(MOLT-4)126.5
Liver8.7
Lung6.55
Lymphnode5.05
Lymphoma_burkitts(Daudi)247.55
Lymphoma_burkitts(Raji)9.5
MedullaOblongata5.45
OccipitalLobe5.35
OlfactoryBulb4.7
Ovary4.3
Pancreas5.05
PancreaticIslet6.5
ParietalLobe6.65
Pituitary6.95
Placenta6.05
Pons5.9
PrefrontalCortex7.35
Prostate6.9
Salivarygland4.95
SkeletalMuscle8.35
Skin5.35
SmoothMuscle7
Spinalcord6.4
SubthalamicNucleus5.75
SuperiorCervicalGanglion8.45
TemporalLobe5.65
Testis88.5
TestisGermCell156.7
TestisIntersitial312.7
TestisLeydigCell260.5
TestisSeminiferousTubule186.2
Thalamus6.2
Thymus4.9
Thyroid7.2
Tongue6.5
Tonsil7.3
Trachea5
TrigeminalGanglion7.2
Uterus4.8
UterusCorpus5.9
WholeBlood6.5
Wholebrain4.8
colon12.7
pineal_day7.42
pineal_night7.24
retina7.275
small_intestine23.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8147_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
Amygdala2.03 ± 1.01
Basal Forebrain1.57 ± 0.2
Basal Part of Pons1.28 ± 0.34
Cerebellar Cortex1.45 ± 0.7
Cerebellar Nuclei1.84 ± 0.64
Claustrum2.41 ± 0.88
Epithalamus1.32 ± 0.75
Frontal Lobe1.42 ± 0.57
Globus Pallidus2.2 ± 0.37
Hypothalamus1.66 ± 0.73
Insula1.47 ± 0.49
Limbic Lobe1.55 ± 0.57
Mesencephalon1.72 ± 0.66
Myelencephalon1.61 ± 0.65
Occipital Lobe1.68 ± 0.7
Parietal Lobe1.59 ± 0.64
Pontine Tegmentum1.64 ± 0.66
Striatum1.73 ± 0.49
Subthalamus1.72 ± 0.59
Temporal Lobe1.51 ± 0.67
Thalamus1.58 ± 0.64
White Matter2.04 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PbkCBCerebellum0.73
2.09
PbkCTXCerebral cortex0.28
0.51
PbkHIPHippocampal region0.08
0.23
PbkHPFHippocampal formation0.08
0.2
PbkHYHypothalamus0.08
0.11
PbkLSXLateral septal complex0.04
0
PbkMBMidbrain0.24
0.5
PbkMYMedulla0.77
1.01
PbkOLFOlfactory bulb1.02
2.32
PbkPPons0.16
0.15
PbkPALPallidum0.25
0.22
PbkRHPRetrohippocampal region0.05
0.15
PbksAMYStriatum-like amygdalar nuclei0.05
0.11
PbkSTRStriatum0.18
0.42
PbkSTRdStriatum dorsal region0.21
0.36
PbkSTRvStriatum ventral region0.24
1.17
PbkTHThalamus0.14
0.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00068555 10 55 64 GLSHSPWAVK Peptide Atlas
TOPK_HUMAN_1 8 1 8 MEGISNFK PRIDE
TOPK_HUMAN_215 12 215 226 EAVEENGVITDK 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