AutismKB 2.0

Annotation Detail for PIK3C2A


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Basic Information Top
Gene Symbol:PIK3C2A ( CPK,DKFZp686L193,MGC142218,PI3-K-C2(ALPHA),PI3-K-C2A )
Gene Full Name: phosphoinositide-3-kinase, class 2, alpha polypeptide
Band: 11p15.1
Quick LinksEntrez ID:5286; OMIM: 603601; Uniprot ID:P3C2A_HUMAN; ENSEMBL ID: ENSG00000011405; HGNC ID: 8971
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 body6 / 7076184
blastocyst9 / 62319144
fetus17 / 56401230
neonate3 / 3109796
infant0 / 236200 
juvenile4 / 5555671
adult142 / 193912173
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor4 / 34366116
chondrosarcoma5 / 8282360
colorectal tumor13 / 114246113
esophageal tumor6 / 17290347
gastrointestinal tumor7 / 11936958
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor9 / 13630266
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor8 / 9635983
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal195 / 336030758
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain40 / 110098936
cervix4 / 4817183
connective tissue5 / 14925533
ear3 / 16212185
embryonic tissue16 / 21572274
esophagus6 / 20209296
eye4 / 21105418
heart1 / 8962611
intestine15 / 23447263
kidney10 / 21177747
larynx3 / 24145124
liver11 / 20774352
lung12 / 33697435
lymph0 / 442700 
lymph node5 / 9161054
mammary gland12 / 15327178
mouth3 / 6705244
muscle18 / 107715167
nerve1 / 1576863
ovary6 / 10205158
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta31 / 280825110
prostate10 / 18934552
salivary gland0 / 201550 
skin10 / 21057447
spleen0 / 539520 
stomach6 / 9661962
testis19 / 33044257
thymus2 / 8113124
thyroid6 / 47473126
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus12 / 23287851
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213070_at
Cell line Expression level Expression bar
721_B_lymphoblasts31.95
Adipocyte41.95
AdrenalCortex29.9
Adrenalgland20.95
Amygdala174.3
Appendix41
AtrioventricularNode20.1
BDCA4+_DentriticCells25.15
Bonemarrow25.7
BronchialEpithelialCells35.05
CD105+_Endothelial36.05
CD14+_Monocytes27.45
CD19+_BCells(neg._sel.)25.7
CD33+_Myeloid50.1
CD34+31.3
CD4+_Tcells26.1
CD56+_NKCells32.65
CD71+_EarlyErythroid21.1
CD8+_Tcells25.95
CardiacMyocytes38.05
Caudatenucleus60.2
Cerebellum20.65
CerebellumPeduncles25.45
CiliaryGanglion18.95
CingulateCortex34
Colorectaladenocarcinoma188.8
DorsalRootGanglion14.85
FetalThyroid27.3
Fetalbrain36.85
Fetalliver26.6
Fetallung86.55
GlobusPallidus20.05
Heart33.6
Hypothalamus85.9
Kidney20.55
Leukemia_chronicMyelogenousK-56224.6
Leukemia_promyelocytic-HL-6036.45
Leukemialymphoblastic(MOLT-4)19.55
Liver32.8
Lung17.75
Lymphnode44.65
Lymphoma_burkitts(Daudi)31
Lymphoma_burkitts(Raji)82.7
MedullaOblongata39.5
OccipitalLobe56.8
OlfactoryBulb29.75
Ovary18.25
Pancreas22.85
PancreaticIslet35.2
ParietalLobe36.55
Pituitary52.55
Placenta19.35
Pons24.35
PrefrontalCortex135.4
Prostate58.95
Salivarygland32.3
SkeletalMuscle31.65
Skin21.55
SmoothMuscle84.1
Spinalcord116.75
SubthalamicNucleus18.3
SuperiorCervicalGanglion30.9
TemporalLobe22.65
Testis21.65
TestisGermCell87.5
TestisIntersitial23.4
TestisLeydigCell30.85
TestisSeminiferousTubule28.2
Thalamus30.85
Thymus13.25
Thyroid273.8
Tongue24.4
Tonsil24.6
Trachea31.25
TrigeminalGanglion24.3
Uterus123.65
UterusCorpus26.8
WholeBlood35.8
Wholebrain25.35
colon71.5
pineal_day53.36
pineal_night86
retina78.425
small_intestine58.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15279_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
Amygdala5.71 ± 0.53
Basal Forebrain5.79 ± 0.17
Basal Part of Pons4.64 ± 0.39
Cerebellar Cortex5.21 ± 0.35
Cerebellar Nuclei5.09 ± 0.39
Claustrum5.48 ± 0.6
Epithalamus5.45 ± 0.28
Frontal Lobe5.07 ± 0.46
Globus Pallidus6.18 ± 0.45
Hypothalamus5.25 ± 0.49
Insula5.13 ± 0.17
Limbic Lobe5.1 ± 0.5
Mesencephalon5.48 ± 0.36
Myelencephalon5.31 ± 0.55
Occipital Lobe5.58 ± 0.5
Parietal Lobe5.22 ± 0.49
Pontine Tegmentum5.43 ± 0.38
Striatum5.94 ± 0.5
Subthalamus5.08 ± 0.49
Temporal Lobe5.04 ± 0.44
Thalamus5.58 ± 0.38
White Matter5.92 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pik3c2aCBCerebellum0.86
1.76
Pik3c2aCTXCerebral cortex0.93
1.06
Pik3c2aHIPHippocampal region1.05
0.98
Pik3c2aHPFHippocampal formation0.85
0.73
Pik3c2aHYHypothalamus0.05
0.07
Pik3c2aLSXLateral septal complex1.22
1.79
Pik3c2aMBMidbrain0.49
0.77
Pik3c2aMYMedulla3.12
4.55
Pik3c2aOLFOlfactory bulb1.9
2.81
Pik3c2aPPons3.49
5.24
Pik3c2aPALPallidum0.36
0.37
Pik3c2aRHPRetrohippocampal region0.55
0.42
Pik3c2asAMYStriatum-like amygdalar nuclei2.23
2.37
Pik3c2aSTRStriatum0.44
0.52
Pik3c2aSTRdStriatum dorsal region0.21
0.24
Pik3c2aSTRvStriatum ventral region0.12
0.08
Pik3c2aTHThalamus0.27
0.43
Peptide Top

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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