AutismKB 2.0

Annotation Detail for PI4KA


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Basic Information Top
Gene Symbol:PI4KA ( FLJ16556,PI4K-ALPHA,PIK4CA,pi4K230 )
Gene Full Name: phosphatidylinositol 4-kinase, catalytic, alpha
Band: 22q11.21
Quick LinksEntrez ID:5297; OMIM: 600286; Uniprot ID:PI4KA_HUMAN; ENSEMBL ID: ENSG00000100038,ENSG00000241973; HGNC ID: 8983
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
blastocyst4 / 6231964
fetus53 / 56401293
neonate0 / 310970 
infant3 / 23620127
juvenile2 / 5555635
adult164 / 193912184
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor9 / 11424678
esophageal tumor1 / 1729057
gastrointestinal tumor9 / 11936975
germ cell tumor17 / 26384564
glioma14 / 106883130
head and neck tumor9 / 13630266
kidney tumor5 / 6895972
leukemia9 / 9584293
liver tumor1 / 9635910
lung tumor13 / 103127126
lymphoma2 / 7175527
non-neoplasia6 / 9725061
normal264 / 336030778
ovarian tumor8 / 76682104
pancreatic tumor24 / 104616229
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer7 / 10268068
retinoblastoma3 / 4635664
skin tumor3 / 12494924
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland2 / 3319760
ascites3 / 4001574
bladder2 / 2975767
blood8 / 12347864
bone5 / 7165569
bone marrow0 / 488010 
brain164 / 1100989148
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus1 / 2020949
eye10 / 21105447
heart8 / 8962689
intestine15 / 23447263
kidney11 / 21177751
larynx2 / 2414582
liver2 / 2077439
lung27 / 33697480
lymph0 / 442700 
lymph node10 / 91610109
mammary gland9 / 15327158
mouth2 / 6705229
muscle6 / 10771555
nerve0 / 157680 
ovary9 / 10205188
pancreas27 / 214812125
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta20 / 28082571
prostate12 / 18934563
salivary gland0 / 201550 
skin5 / 21057423
spleen3 / 5395255
stomach4 / 9661941
testis36 / 330442108
thymus8 / 8113198
thyroid6 / 47473126
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus18 / 23287877
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207081_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts73.45
Adipocyte15.2
AdrenalCortex11.25
Adrenalgland12.35
Amygdala232.35
Appendix13.75
AtrioventricularNode10.15
BDCA4+_DentriticCells239.55
Bonemarrow15.35
BronchialEpithelialCells12.15
CD105+_Endothelial27.6
CD14+_Monocytes51.45
CD19+_BCells(neg._sel.)47.95
CD33+_Myeloid109.6
CD34+85.4
CD4+_Tcells134.1
CD56+_NKCells94.85
CD71+_EarlyErythroid26.2
CD8+_Tcells135.95
CardiacMyocytes16.35
Caudatenucleus102.15
Cerebellum86.3
CerebellumPeduncles132.85
CiliaryGanglion10.7
CingulateCortex133.7
Colorectaladenocarcinoma19.1
DorsalRootGanglion10.95
FetalThyroid40.95
Fetalbrain89.55
Fetalliver13.5
Fetallung21.7
GlobusPallidus113.95
Heart27.1
Hypothalamus137.65
Kidney15.35
Leukemia_chronicMyelogenousK-56277.4
Leukemia_promyelocytic-HL-6021.95
Leukemialymphoblastic(MOLT-4)42
Liver20.85
Lung63.9
Lymphnode36.85
Lymphoma_burkitts(Daudi)31.55
Lymphoma_burkitts(Raji)35.85
MedullaOblongata177.2
OccipitalLobe262.45
OlfactoryBulb22.5
Ovary10.05
Pancreas11.65
PancreaticIslet15.7
ParietalLobe222.85
Pituitary31.45
Placenta72.15
Pons94.75
PrefrontalCortex408.75
Prostate72.3
Salivarygland8.35
SkeletalMuscle15.25
Skin8.3
SmoothMuscle17.3
Spinalcord28.75
SubthalamicNucleus163.95
SuperiorCervicalGanglion18.15
TemporalLobe134.35
Testis36.05
TestisGermCell33.15
TestisIntersitial26.8
TestisLeydigCell13.45
TestisSeminiferousTubule33.85
Thalamus127.1
Thymus111.3
Thyroid66.85
Tongue12.85
Tonsil20.95
Trachea13.1
TrigeminalGanglion14.3
Uterus56.4
UterusCorpus12.9
WholeBlood36.65
Wholebrain389.85
colon17.05
pineal_day151.68
pineal_night194.9
retina67.375
small_intestine14.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P102994
  • 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
Amygdala8.64 ± 0.71
Basal Forebrain8.85 ± 0.49
Basal Part of Pons9.56 ± 0.59
Cerebellar Cortex9.02 ± 0.4
Cerebellar Nuclei8.51 ± 0.54
Claustrum9.1 ± 1.02
Epithalamus8.72 ± 0.37
Frontal Lobe9.26 ± 0.51
Globus Pallidus7.23 ± 0.46
Hypothalamus9.17 ± 0.48
Insula9.28 ± 0.35
Limbic Lobe8.81 ± 0.83
Mesencephalon8.52 ± 0.61
Myelencephalon8.8 ± 0.76
Occipital Lobe8.08 ± 0.93
Parietal Lobe8.95 ± 0.63
Pontine Tegmentum8.75 ± 0.6
Striatum7.98 ± 0.82
Subthalamus9.31 ± 0.38
Temporal Lobe9.25 ± 0.56
Thalamus8.65 ± 0.48
White Matter7.44 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pik4caCBCerebellum62.91
100
Pik4caCTXCerebral cortex100
100
Pik4caHIPHippocampal region100
100
Pik4caHPFHippocampal formation100
100
Pik4caHYHypothalamus100
100
Pik4caLSXLateral septal complex100
100
Pik4caMBMidbrain100
100
Pik4caMYMedulla94.8
100
Pik4caOLFOlfactory bulb100
100
Pik4caPPons100
100
Pik4caPALPallidum100
100
Pik4caRHPRetrohippocampal region100
100
Pik4casAMYStriatum-like amygdalar nuclei100
100
Pik4caSTRStriatum100
100
Pik4caSTRdStriatum dorsal region100
100
Pik4caSTRvStriatum ventral region100
100
Pik4caTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064118 20 702 721 ASSSAGNLGVLIPVIAVLTR 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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