AutismKB 2.0

Annotation Detail for PIK3CA


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Basic Information Top
Gene Symbol:PIK3CA ( MGC142161,MGC142163,PI3K,p110-alpha )
Gene Full Name: phosphoinositide-3-kinase, catalytic, alpha polypeptide
Band: 3q26.32
Quick LinksEntrez ID:5290; OMIM: 171834; Uniprot ID:PK3CA_HUMAN; ENSEMBL ID: ENSG00000121879; HGNC ID: 8975
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 body0 / 707610 
blastocyst4 / 6231964
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult36 / 193912118
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult29 / 193912114
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor7 / 26384526
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal77 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor1 / 9025711
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal51 / 336030715
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood2 / 12347816
bone1 / 7165513
bone marrow1 / 4880120
brain10 / 11009899
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye2 / 2110549
heart4 / 8962644
intestine3 / 23447212
kidney3 / 21177714
larynx0 / 241450 
liver4 / 20774319
lung2 / 3369745
lymph0 / 442700 
lymph node7 / 9161076
mammary gland4 / 15327126
mouth0 / 670520 
muscle6 / 10771555
nerve1 / 1576863
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta7 / 28082524
prostate5 / 18934526
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach1 / 9661910
testis9 / 33044227
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular7 / 51780135
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain5 / 11009894
cervix4 / 4817183
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine4 / 23447217
kidney2 / 2117779
larynx0 / 241450 
liver2 / 2077439
lung2 / 3369745
lymph0 / 442700 
lymph node3 / 9161032
mammary gland5 / 15327132
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204369_at
Cell line Expression level Expression bar
721_B_lymphoblasts40.4
Adipocyte8.25
AdrenalCortex7.95
Adrenalgland5.9
Amygdala6.95
Appendix7.55
AtrioventricularNode7.15
BDCA4+_DentriticCells7.55
Bonemarrow7.1
BronchialEpithelialCells6.75
CD105+_Endothelial6.55
CD14+_Monocytes11.05
CD19+_BCells(neg._sel.)51.5
CD33+_Myeloid27.1
CD34+10.9
CD4+_Tcells39.7
CD56+_NKCells29.4
CD71+_EarlyErythroid6.5
CD8+_Tcells60.7
CardiacMyocytes10.2
Caudatenucleus5.9
Cerebellum5.45
CerebellumPeduncles8.5
CiliaryGanglion5.45
CingulateCortex7.15
Colorectaladenocarcinoma6.85
DorsalRootGanglion5.65
FetalThyroid6.9
Fetalbrain8.15
Fetalliver6.1
Fetallung5.55
GlobusPallidus5.25
Heart9.55
Hypothalamus7.2
Kidney5.85
Leukemia_chronicMyelogenousK-5626.35
Leukemia_promyelocytic-HL-606.45
Leukemialymphoblastic(MOLT-4)5.45
Liver9.6
Lung7.05
Lymphnode5.9
Lymphoma_burkitts(Daudi)13.35
Lymphoma_burkitts(Raji)10.15
MedullaOblongata6.1
OccipitalLobe7.55
OlfactoryBulb5.5
Ovary4.75
Pancreas5.55
PancreaticIslet7.4
ParietalLobe7.65
Pituitary8
Placenta6.4
Pons6.85
PrefrontalCortex21.65
Prostate7.75
Salivarygland5.75
SkeletalMuscle9.25
Skin6.55
SmoothMuscle7.9
Spinalcord7.05
SubthalamicNucleus6.9
SuperiorCervicalGanglion9.7
TemporalLobe6.45
Testis5.6
TestisGermCell5.9
TestisIntersitial5.8
TestisLeydigCell6.9
TestisSeminiferousTubule5.95
Thalamus7
Thymus5.25
Thyroid7.85
Tongue7.1
Tonsil6.85
Trachea5.8
TrigeminalGanglion7.6
Uterus10.75
UterusCorpus6.6
WholeBlood10.05
Wholebrain5.4
colon8.05
pineal_day12.5
pineal_night8.96
retina8.05
small_intestine6.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15807_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
Amygdala7.67 ± 0.19
Basal Forebrain7.63 ± 0.2
Basal Part of Pons7.71 ± 0.3
Cerebellar Cortex7.65 ± 0.23
Cerebellar Nuclei7.8 ± 0.29
Claustrum7.9 ± 0.33
Epithalamus7.48 ± 0.32
Frontal Lobe7.6 ± 0.26
Globus Pallidus7.67 ± 0.13
Hypothalamus7.59 ± 0.19
Insula7.47 ± 0.25
Limbic Lobe7.59 ± 0.31
Mesencephalon7.63 ± 0.3
Myelencephalon7.59 ± 0.26
Occipital Lobe7.93 ± 0.18
Parietal Lobe7.77 ± 0.36
Pontine Tegmentum7.71 ± 0.25
Striatum7.42 ± 0.2
Subthalamus7.76 ± 0.56
Temporal Lobe7.57 ± 0.26
Thalamus7.64 ± 0.23
White Matter7.49 ± 0.35
Mouse Brain ISH
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