AutismKB 2.0

Annotation Detail for PI4K2A


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Basic Information Top
Gene Symbol:PI4K2A ( DKFZp761G1923,PI4KII,PIK42A,RP11-548K23.6 )
Gene Full Name: phosphatidylinositol 4-kinase type 2 alpha
Band: 10q24.2
Quick LinksEntrez ID:55361; OMIM: 609763; Uniprot ID:P4K2A_HUMAN; ENSEMBL ID: ENSG00000155252,ENSG00000249967; HGNC ID: 30031
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
blastocyst6 / 6231996
fetus20 / 56401235
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult74 / 193912138
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) tumor0 / 941780 
cervical tumor3 / 3436687
chondrosarcoma8 / 8282396
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor11 / 26384541
glioma5 / 10688346
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor6 / 10312758
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal123 / 336030736
ovarian tumor4 / 7668252
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor9 / 12494972
soft tissue/muscle tissue tumor2 / 12519115
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 
ascites0 / 400150 
bladder2 / 2975767
blood0 / 1234780 
bone4 / 7165555
bone marrow0 / 488010 
brain34 / 110098930
cervix3 / 4817162
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus1 / 2020949
eye9 / 21105442
heart2 / 8962622
intestine4 / 23447217
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung19 / 33697456
lymph0 / 442700 
lymph node1 / 9161010
mammary gland3 / 15327119
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary5 / 10205148
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta9 / 28082532
prostate10 / 18934552
salivary gland0 / 201550 
skin11 / 21057452
spleen1 / 5395218
stomach3 / 9661931
testis20 / 33044260
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus13 / 23287855
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209346_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.15
Adipocyte4.15
AdrenalCortex4.3
Adrenalgland3.55
Amygdala4.3
Appendix4.25
AtrioventricularNode3.15
BDCA4+_DentriticCells4.7
Bonemarrow4.1
BronchialEpithelialCells4.1
CD105+_Endothelial4.25
CD14+_Monocytes4.35
CD19+_BCells(neg._sel.)4.5
CD33+_Myeloid5.4
CD34+5.05
CD4+_Tcells4.6
CD56+_NKCells5.6
CD71+_EarlyErythroid5.7
CD8+_Tcells4.05
CardiacMyocytes5.05
Caudatenucleus3.8
Cerebellum3.4
CerebellumPeduncles4.75
CiliaryGanglion2.9
CingulateCortex4.35
Colorectaladenocarcinoma4.15
DorsalRootGanglion3.55
FetalThyroid4.05
Fetalbrain4.2
Fetalliver3.6
Fetallung3.5
GlobusPallidus3.15
Heart5.1
Hypothalamus4.55
Kidney3.45
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)3.35
Liver5.45
Lung4.65
Lymphnode3.65
Lymphoma_burkitts(Daudi)5.3
Lymphoma_burkitts(Raji)5.65
MedullaOblongata3.95
OccipitalLobe3.8
OlfactoryBulb3.35
Ovary2.75
Pancreas3.35
PancreaticIslet4.45
ParietalLobe4.45
Pituitary4.9
Placenta4.4
Pons6.3
PrefrontalCortex5.3
Prostate4.85
Salivarygland3.3
SkeletalMuscle4.65
Skin3.2
SmoothMuscle4.7
Spinalcord4.45
SubthalamicNucleus3.85
SuperiorCervicalGanglion4.7
TemporalLobe4.4
Testis3.6
TestisGermCell3.5
TestisIntersitial3.5
TestisLeydigCell4.1
TestisSeminiferousTubule3.6
Thalamus4.25
Thymus3.15
Thyroid5.25
Tongue4.05
Tonsil4.1
Trachea3.5
TrigeminalGanglion4.1
Uterus3.4
UterusCorpus3.55
WholeBlood4.35
Wholebrain3.55
colon4.2
pineal_day5.18
pineal_night5.04
retina5.15
small_intestine4.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P127339
  • 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
Amygdala8.81 ± 0.3
Basal Forebrain9 ± 0.24
Basal Part of Pons9.33 ± 0.2
Cerebellar Cortex9.22 ± 0.28
Cerebellar Nuclei9.26 ± 0.4
Claustrum9.13 ± 0.49
Epithalamus8.33 ± 0.35
Frontal Lobe8.9 ± 0.34
Globus Pallidus9.13 ± 0.34
Hypothalamus8.74 ± 0.34
Insula8.75 ± 0.4
Limbic Lobe9.07 ± 0.45
Mesencephalon9.06 ± 0.41
Myelencephalon8.99 ± 0.37
Occipital Lobe9.38 ± 0.36
Parietal Lobe9.06 ± 0.3
Pontine Tegmentum8.93 ± 0.29
Striatum9.03 ± 0.34
Subthalamus9.07 ± 0.15
Temporal Lobe8.88 ± 0.29
Thalamus9.06 ± 0.28
White Matter8.3 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pi4k2aCBCerebellum22.55
62.23
Pi4k2aCTXCerebral cortex77.86
54.97
Pi4k2aHIPHippocampal region44.7
71.93
Pi4k2aHPFHippocampal formation51.96
59.53
Pi4k2aHYHypothalamus31.37
21.13
Pi4k2aLSXLateral septal complex13.91
8.74
Pi4k2aMBMidbrain42.24
37.58
Pi4k2aMYMedulla45.34
53.28
Pi4k2aOLFOlfactory bulb67.29
53.02
Pi4k2aPPons53.82
57.64
Pi4k2aPALPallidum38.88
32.39
Pi4k2aRHPRetrohippocampal region65.84
48.2
Pi4k2asAMYStriatum-like amygdalar nuclei40.29
21.6
Pi4k2aSTRStriatum32.44
17.68
Pi4k2aSTRdStriatum dorsal region22.57
12.14
Pi4k2aSTRvStriatum ventral region31.03
17.21
Pi4k2aTHThalamus60.59
51.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00132613 19 38 56 VAAAAGSGPSPPGSPGHDR 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