AutismKB 2.0

Annotation Detail for PLEKHA3


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Basic Information Top
Gene Symbol:PLEKHA3 ( FAPP1,FLJ20067 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3
Band: 2q31.2
Quick LinksEntrez ID:65977; OMIM: 607774; Uniprot ID:PKHA3_HUMAN; ENSEMBL ID: ENSG00000116095; HGNC ID: 14338
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 
blastocyst1 / 6231916
fetus25 / 56401244
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult41 / 193912121
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) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor13 / 26384549
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal96 / 336030728
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor4 / 12494932
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 tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood1 / 1234788
bone3 / 7165541
bone marrow1 / 4880120
brain33 / 110098929
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye6 / 21105428
heart2 / 8962622
intestine7 / 23447229
kidney9 / 21177742
larynx0 / 241450 
liver3 / 20774314
lung46 / 336974136
lymph0 / 442700 
lymph node6 / 9161065
mammary gland1 / 1532716
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas7 / 21481232
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate4 / 18934521
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach1 / 9661910
testis9 / 33044227
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P209206
  • 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
Amygdala3.31 ± 0.58
Basal Forebrain2.86 ± 0.36
Basal Part of Pons2.88 ± 0.53
Cerebellar Cortex3.05 ± 0.57
Cerebellar Nuclei3.03 ± 0.33
Claustrum3.3 ± 0.74
Epithalamus3.03 ± 0.55
Frontal Lobe3 ± 0.56
Globus Pallidus2.86 ± 0.6
Hypothalamus3.09 ± 0.62
Insula2.9 ± 0.62
Limbic Lobe3.18 ± 0.46
Mesencephalon3.13 ± 0.69
Myelencephalon3.06 ± 0.58
Occipital Lobe3.28 ± 0.78
Parietal Lobe3.01 ± 0.57
Pontine Tegmentum3.05 ± 0.6
Striatum3.36 ± 0.53
Subthalamus2.73 ± 0.88
Temporal Lobe3.04 ± 0.58
Thalamus3 ± 0.51
White Matter3.48 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekha3CBCerebellum4.14
3.56
Plekha3CTXCerebral cortex6.62
2.63
Plekha3HIPHippocampal region6.58
4.65
Plekha3HPFHippocampal formation5.16
3.15
Plekha3HYHypothalamus4.42
1.33
Plekha3LSXLateral septal complex2.83
0.63
Plekha3MBMidbrain2.11
0.93
Plekha3MYMedulla8.32
4.43
Plekha3OLFOlfactory bulb9.85
4.48
Plekha3PPons4.67
2.21
Plekha3PALPallidum1.36
0.43
Plekha3RHPRetrohippocampal region2.98
1.17
Plekha3sAMYStriatum-like amygdalar nuclei0.57
0.29
Plekha3STRStriatum1.12
0.44
Plekha3STRdStriatum dorsal region0.92
0.45
Plekha3STRvStriatum ventral region1.44
0.37
Plekha3THThalamus4.69
1.72
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