AutismKB 2.0

Annotation Detail for PHKA2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PHKA2 ( GSD9A,MGC133071,PHK,PYK,PYKL,XLG,XLG2 )
Gene Full Name: phosphorylase kinase, alpha 2 (liver)
Band: Xp22.13
Quick LinksEntrez ID:5256; OMIM: 300798; Uniprot ID:KPB2_HUMAN; ENSEMBL ID: ENSG00000044446; HGNC ID: 8926
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 body3 / 7076142
blastocyst2 / 6231932
fetus33 / 56401258
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult77 / 193912139
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) tumor6 / 9417863
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor19 / 26384572
glioma1 / 1068839
head and neck tumor6 / 13630244
kidney tumor2 / 6895929
leukemia5 / 9584252
liver tumor6 / 9635962
lung tumor3 / 10312729
lymphoma8 / 71755111
non-neoplasia4 / 9725041
normal139 / 336030741
ovarian tumor2 / 7668226
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone1 / 7165513
bone marrow0 / 488010 
brain34 / 110098930
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye6 / 21105428
heart2 / 8962622
intestine16 / 23447268
kidney8 / 21177737
larynx0 / 241450 
liver9 / 20774343
lung19 / 33697456
lymph0 / 442700 
lymph node14 / 91610152
mammary gland9 / 15327158
mouth4 / 6705259
muscle7 / 10771564
nerve2 / 15768126
ovary2 / 10205119
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta7 / 28082524
prostate9 / 18934547
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach2 / 9661920
testis38 / 330442114
thymus6 / 8113173
thyroid2 / 4747342
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus4 / 23287817
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209438_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.65
Adipocyte8.85
AdrenalCortex8.2
Adrenalgland7.6
Amygdala6.7
Appendix7.9
AtrioventricularNode6.05
BDCA4+_DentriticCells8.65
Bonemarrow12.3
BronchialEpithelialCells6.1
CD105+_Endothelial7.9
CD14+_Monocytes8.25
CD19+_BCells(neg._sel.)8.35
CD33+_Myeloid18.5
CD34+12.8
CD4+_Tcells8.6
CD56+_NKCells10.4
CD71+_EarlyErythroid7.3
CD8+_Tcells7.55
CardiacMyocytes8.4
Caudatenucleus6.95
Cerebellum7.1
CerebellumPeduncles8.8
CiliaryGanglion7.15
CingulateCortex8
Colorectaladenocarcinoma7.7
DorsalRootGanglion8.3
FetalThyroid7.55
Fetalbrain7.65
Fetalliver10
Fetallung6.55
GlobusPallidus5.65
Heart10.15
Hypothalamus8.55
Kidney6.45
Leukemia_chronicMyelogenousK-5627.1
Leukemia_promyelocytic-HL-606.9
Leukemialymphoblastic(MOLT-4)8.55
Liver12.95
Lung8.5
Lymphnode9.3
Lymphoma_burkitts(Daudi)10
Lymphoma_burkitts(Raji)10.8
MedullaOblongata7.2
OccipitalLobe6.4
OlfactoryBulb6.7
Ovary5.05
Pancreas7.85
PancreaticIslet8.3
ParietalLobe8.4
Pituitary11.1
Placenta8.1
Pons7.4
PrefrontalCortex7.9
Prostate8.85
Salivarygland5.95
SkeletalMuscle9.7
Skin8.65
SmoothMuscle5.35
Spinalcord8.65
SubthalamicNucleus9.3
SuperiorCervicalGanglion9.9
TemporalLobe7.1
Testis6.7
TestisGermCell6.65
TestisIntersitial4.55
TestisLeydigCell7.5
TestisSeminiferousTubule6.9
Thalamus7.9
Thymus6.3
Thyroid9.6
Tongue7.6
Tonsil7.35
Trachea6.55
TrigeminalGanglion6.8
Uterus6.35
UterusCorpus7.1
WholeBlood8.55
Wholebrain6.4
colon6.2
pineal_day10.42
pineal_night9.54
retina9.375
small_intestine7.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14653_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
Amygdala2.51 ± 1.35
Basal Forebrain2.01 ± 0.37
Basal Part of Pons1.79 ± 0.4
Cerebellar Cortex2.27 ± 0.7
Cerebellar Nuclei2.13 ± 0.69
Claustrum2.68 ± 0.82
Epithalamus2.08 ± 0.65
Frontal Lobe2.02 ± 0.87
Globus Pallidus2.51 ± 0.58
Hypothalamus1.97 ± 0.77
Insula1.71 ± 0.64
Limbic Lobe2.05 ± 0.77
Mesencephalon2.24 ± 0.75
Myelencephalon2.12 ± 0.7
Occipital Lobe2.05 ± 0.7
Parietal Lobe1.91 ± 0.71
Pontine Tegmentum2.14 ± 0.67
Striatum2.47 ± 0.65
Subthalamus2.15 ± 0.7
Temporal Lobe1.88 ± 0.65
Thalamus2.06 ± 0.62
White Matter3.31 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phka2CBCerebellum15.69
15.07
Phka2CTXCerebral cortex100
100
Phka2HIPHippocampal region71.46
100
Phka2HPFHippocampal formation81.21
100
Phka2HYHypothalamus50.8
39.07
Phka2LSXLateral septal complex46.83
31.74
Phka2MBMidbrain41.54
35.17
Phka2MYMedulla40.25
41.44
Phka2OLFOlfactory bulb100
91.72
Phka2PPons45.09
45.44
Phka2PALPallidum46.96
38.81
Phka2RHPRetrohippocampal region100
87.36
Phka2sAMYStriatum-like amygdalar nuclei56.56
39.84
Phka2STRStriatum51.82
36.24
Phka2STRdStriatum dorsal region43.61
29.61
Phka2STRvStriatum ventral region76.98
54.06
Phka2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KPB2_HUMAN_729 14 729 742 SLNLVDSPQPLLEK PRIDE
PAp00038307 19 569 587 TMLTNDGSDIHSAVLSTIR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved