AutismKB 2.0

Annotation Detail for PHKG2


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Basic Information Top
Gene Symbol:PHKG2 ( GSD9C )
Gene Full Name: phosphorylase kinase, gamma 2 (testis)
Band: 16p11.2
Quick LinksEntrez ID:5261; OMIM: 172471; Uniprot ID:PHKG2_HUMAN; ENSEMBL ID: ENSG00000156873; HGNC ID: 8931
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 body4 / 7076156
blastocyst1 / 6231916
fetus21 / 56401237
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult102 / 193912152
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor6 / 26384522
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal130 / 336030738
ovarian tumor5 / 7668265
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer8 / 10268077
retinoblastoma2 / 4635643
skin tumor5 / 12494940
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood22 / 123478178
bone4 / 7165555
bone marrow0 / 488010 
brain39 / 110098935
cervix3 / 4817162
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye9 / 21105442
heart2 / 8962622
intestine7 / 23447229
kidney4 / 21177718
larynx0 / 241450 
liver1 / 2077434
lung12 / 33697435
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary8 / 10205178
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate10 / 18934552
salivary gland0 / 201550 
skin8 / 21057437
spleen1 / 5395218
stomach2 / 9661920
testis14 / 33044242
thymus2 / 8113124
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203709_at
Cell line Expression level Expression bar
721_B_lymphoblasts27.6
Adipocyte13.95
AdrenalCortex15.05
Adrenalgland12.4
Amygdala15.95
Appendix13.55
AtrioventricularNode11.05
BDCA4+_DentriticCells46.7
Bonemarrow14.25
BronchialEpithelialCells14.55
CD105+_Endothelial15.05
CD14+_Monocytes28.2
CD19+_BCells(neg._sel.)16.1
CD33+_Myeloid33.4
CD34+19.1
CD4+_Tcells54.65
CD56+_NKCells22.65
CD71+_EarlyErythroid13.8
CD8+_Tcells56.05
CardiacMyocytes17.25
Caudatenucleus14.35
Cerebellum11.85
CerebellumPeduncles16.7
CiliaryGanglion9.55
CingulateCortex15
Colorectaladenocarcinoma18.7
DorsalRootGanglion10.95
FetalThyroid19
Fetalbrain14.4
Fetalliver11.1
Fetallung11.95
GlobusPallidus10.75
Heart21.75
Hypothalamus19
Kidney11.8
Leukemia_chronicMyelogenousK-56211.9
Leukemia_promyelocytic-HL-6014.25
Leukemialymphoblastic(MOLT-4)18.7
Liver19.35
Lung18.4
Lymphnode13.15
Lymphoma_burkitts(Daudi)24.9
Lymphoma_burkitts(Raji)20.25
MedullaOblongata13.5
OccipitalLobe13
OlfactoryBulb11.65
Ovary9.7
Pancreas9.9
PancreaticIslet15.75
ParietalLobe15.5
Pituitary17.45
Placenta14.05
Pons14
PrefrontalCortex18.55
Prostate15.6
Salivarygland11.6
SkeletalMuscle18.3
Skin11.2
SmoothMuscle16.8
Spinalcord18.45
SubthalamicNucleus17.45
SuperiorCervicalGanglion15.35
TemporalLobe13.5
Testis250.4
TestisGermCell123.2
TestisIntersitial176.7
TestisLeydigCell110.75
TestisSeminiferousTubule121.85
Thalamus16.65
Thymus19.45
Thyroid19.1
Tongue14.15
Tonsil14.35
Trachea12.3
TrigeminalGanglion14.5
Uterus11.9
UterusCorpus12
WholeBlood20.55
Wholebrain29.5
colon13.65
pineal_day25.94
pineal_night17.82
retina21.475
small_intestine10.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P296457
  • 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
Amygdala4.04 ± 0.72
Basal Forebrain3.44 ± 0.18
Basal Part of Pons4.36 ± 0.61
Cerebellar Cortex4.17 ± 0.53
Cerebellar Nuclei3.78 ± 0.56
Claustrum3.55 ± 0.77
Epithalamus3.97 ± 0.75
Frontal Lobe4.32 ± 0.5
Globus Pallidus3.11 ± 0.71
Hypothalamus4.14 ± 0.62
Insula4.24 ± 0.35
Limbic Lobe4.02 ± 0.74
Mesencephalon3.93 ± 0.71
Myelencephalon3.99 ± 0.71
Occipital Lobe3.32 ± 0.78
Parietal Lobe3.99 ± 0.59
Pontine Tegmentum3.95 ± 0.73
Striatum3.18 ± 0.66
Subthalamus3.85 ± 0.7
Temporal Lobe4.28 ± 0.56
Thalamus3.82 ± 0.63
White Matter2.5 ± 0.82
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phkg2CBCerebellum19.87
23.7
Phkg2CTXCerebral cortex46.38
33.51
Phkg2HIPHippocampal region31.63
35.03
Phkg2HPFHippocampal formation35.81
33.46
Phkg2HYHypothalamus24.26
19.95
Phkg2LSXLateral septal complex17.43
11.18
Phkg2MBMidbrain31.75
29.48
Phkg2MYMedulla37.32
41.82
Phkg2OLFOlfactory bulb36.38
26.01
Phkg2PPons31.05
34.65
Phkg2PALPallidum22.22
22.21
Phkg2RHPRetrohippocampal region40.41
31.09
Phkg2sAMYStriatum-like amygdalar nuclei15.13
10
Phkg2STRStriatum16.22
11.31
Phkg2STRdStriatum dorsal region15.95
11.1
Phkg2STRvStriatum ventral region17.28
12.33
Phkg2THThalamus37.11
30.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00499233 16 153 168 DLKPENILLDDNMQIR Peptide Atlas
PHKG2_HUMAN_238 6 238 243 QILMLR 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


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