AutismKB 2.0

Annotation Detail for PHKB


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Basic Information Top
Gene Symbol:PHKB ( DKFZp781E15103,FLJ41698 )
Gene Full Name: phosphorylase kinase, beta
Band: 16q12.1
Quick LinksEntrez ID:5257; OMIM: 172490; Uniprot ID:KPBB_HUMAN; ENSEMBL ID: ENSG00000102893; HGNC ID: 8927
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 body7 / 7076198
blastocyst3 / 6231948
fetus33 / 56401258
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult135 / 193912169
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor9 / 9417895
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor7 / 13630251
kidney tumor4 / 6895958
leukemia11 / 95842114
liver tumor6 / 9635962
lung tumor2 / 10312719
lymphoma3 / 7175541
non-neoplasia7 / 9725071
normal222 / 336030766
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer7 / 10268068
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood3 / 12347824
bone4 / 7165555
bone marrow7 / 48801143
brain19 / 110098917
cervix0 / 481710 
connective tissue16 / 149255107
ear1 / 1621261
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye20 / 21105494
heart2 / 8962622
intestine22 / 23447293
kidney26 / 211777122
larynx0 / 241450 
liver8 / 20774338
lung17 / 33697450
lymph2 / 4427045
lymph node12 / 91610130
mammary gland13 / 15327184
mouth4 / 6705259
muscle8 / 10771574
nerve2 / 15768126
ovary1 / 1020519
pancreas13 / 21481260
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta19 / 28082567
prostate9 / 18934547
salivary gland0 / 201550 
skin11 / 21057452
spleen1 / 5395218
stomach4 / 9661941
testis31 / 33044293
thymus4 / 8113149
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus19 / 23287881
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202739_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts26.95
Adipocyte20.3
AdrenalCortex33.3
Adrenalgland18.5
Amygdala41
Appendix26.2
AtrioventricularNode19.2
BDCA4+_DentriticCells20.4
Bonemarrow20.8
BronchialEpithelialCells20.1
CD105+_Endothelial19.3
CD14+_Monocytes26.45
CD19+_BCells(neg._sel.)22.25
CD33+_Myeloid27.15
CD34+45.75
CD4+_Tcells21.05
CD56+_NKCells20.3
CD71+_EarlyErythroid19.8
CD8+_Tcells23.9
CardiacMyocytes28.1
Caudatenucleus20.8
Cerebellum14.3
CerebellumPeduncles24.35
CiliaryGanglion19.6
CingulateCortex22.3
Colorectaladenocarcinoma21.5
DorsalRootGanglion17.95
FetalThyroid20.9
Fetalbrain24.35
Fetalliver17.85
Fetallung18.85
GlobusPallidus16.65
Heart24.8
Hypothalamus24.4
Kidney16.35
Leukemia_chronicMyelogenousK-56228.25
Leukemia_promyelocytic-HL-6020.4
Leukemialymphoblastic(MOLT-4)15.7
Liver25.9
Lung20.9
Lymphnode22.4
Lymphoma_burkitts(Daudi)25
Lymphoma_burkitts(Raji)31.05
MedullaOblongata20.55
OccipitalLobe23.35
OlfactoryBulb18.25
Ovary15.25
Pancreas19.35
PancreaticIslet23.8
ParietalLobe22.95
Pituitary30.55
Placenta20.25
Pons20.5
PrefrontalCortex50.55
Prostate35.3
Salivarygland17.4
SkeletalMuscle24.95
Skin18.65
SmoothMuscle16.45
Spinalcord22.55
SubthalamicNucleus24.05
SuperiorCervicalGanglion36.25
TemporalLobe17
Testis17.6
TestisGermCell25.45
TestisIntersitial19.45
TestisLeydigCell20.1
TestisSeminiferousTubule20.55
Thalamus21.2
Thymus15.65
Thyroid161.4
Tongue26.4
Tonsil21.85
Trachea16.3
TrigeminalGanglion23.55
Uterus32.2
UterusCorpus21.8
WholeBlood29.55
Wholebrain13.65
colon35
pineal_day37.26
pineal_night48.08
retina26.85
small_intestine27.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4700_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
Amygdala6.11 ± 0.59
Basal Forebrain6.04 ± 0.17
Basal Part of Pons6.06 ± 0.31
Cerebellar Cortex5.88 ± 0.27
Cerebellar Nuclei6.17 ± 0.41
Claustrum6.39 ± 0.48
Epithalamus6.1 ± 0.42
Frontal Lobe5.98 ± 0.36
Globus Pallidus6.5 ± 0.17
Hypothalamus5.98 ± 0.28
Insula5.99 ± 0.24
Limbic Lobe6.16 ± 0.35
Mesencephalon6.13 ± 0.32
Myelencephalon6.13 ± 0.35
Occipital Lobe6.37 ± 0.26
Parietal Lobe6.16 ± 0.28
Pontine Tegmentum6.17 ± 0.34
Striatum6.5 ± 0.27
Subthalamus6.39 ± 0.16
Temporal Lobe5.99 ± 0.29
Thalamus6.26 ± 0.3
White Matter6.78 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PhkbCBCerebellum32
43.52
PhkbCTXCerebral cortex37.91
24.75
PhkbHIPHippocampal region36.88
37.46
PhkbHPFHippocampal formation40.72
36.57
PhkbHYHypothalamus47.73
37.5
PhkbLSXLateral septal complex13.31
9.2
PhkbMBMidbrain32.08
27.05
PhkbMYMedulla47.32
50.15
PhkbOLFOlfactory bulb57.87
43.96
PhkbPPons44.31
44.69
PhkbPALPallidum33.25
28.08
PhkbRHPRetrohippocampal region49.51
36.56
PhkbsAMYStriatum-like amygdalar nuclei51.3
36.26
PhkbSTRStriatum23.02
15.19
PhkbSTRdStriatum dorsal region18.12
11.56
PhkbSTRvStriatum ventral region30.11
19.08
PhkbTHThalamus33.88
26
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00096882 31 282 312 SHNTDAALLPCISYPAFALDDEVLFSQTLDK 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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