AutismKB 2.0

Annotation Detail for PLEKHA2


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Basic Information Top
Gene Symbol:PLEKHA2 ( FLJ25921,TAPP2 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2
Band: 8p11.22
Quick LinksEntrez ID:59339; OMIM: 607773; Uniprot ID:PKHA2_HUMAN; ENSEMBL ID: ENSG00000169499; HGNC ID: 14336
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 body4 / 7076156
blastocyst0 / 623190 
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult74 / 193912138
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) tumor0 / 941780 
cervical tumor5 / 34366145
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma8 / 10688374
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia11 / 95842114
liver tumor3 / 9635931
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal150 / 336030744
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood3 / 12347824
bone4 / 7165555
bone marrow7 / 48801143
brain34 / 110098930
cervix5 / 48171103
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye11 / 21105452
heart6 / 8962666
intestine8 / 23447234
kidney11 / 21177751
larynx0 / 241450 
liver7 / 20774333
lung13 / 33697438
lymph1 / 4427022
lymph node32 / 91610349
mammary gland4 / 15327126
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary4 / 10205139
pancreas4 / 21481218
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta12 / 28082542
prostate2 / 18934510
salivary gland0 / 201550 
skin8 / 21057437
spleen3 / 5395255
stomach1 / 9661910
testis5 / 33044215
thymus2 / 8113124
thyroid1 / 4747321
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord0 / 136800 
uterus9 / 23287838
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217677_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.55
Adipocyte10.6
AdrenalCortex11.9
Adrenalgland9.35
Amygdala10.85
Appendix12.05
AtrioventricularNode11.35
BDCA4+_DentriticCells10.05
Bonemarrow12.1
BronchialEpithelialCells10.05
CD105+_Endothelial9.7
CD14+_Monocytes11.15
CD19+_BCells(neg._sel.)22.2
CD33+_Myeloid11.75
CD34+11.35
CD4+_Tcells9.75
CD56+_NKCells11.9
CD71+_EarlyErythroid9.9
CD8+_Tcells10
CardiacMyocytes14.4
Caudatenucleus10.2
Cerebellum8.6
CerebellumPeduncles14.2
CiliaryGanglion11.85
CingulateCortex11
Colorectaladenocarcinoma10.95
DorsalRootGanglion9.45
FetalThyroid10.4
Fetalbrain10.7
Fetalliver9.35
Fetallung8.55
GlobusPallidus8.05
Heart16.75
Hypothalamus11.15
Kidney9.3
Leukemia_chronicMyelogenousK-5628.75
Leukemia_promyelocytic-HL-609.4
Leukemialymphoblastic(MOLT-4)8.6
Liver15.3
Lung11.4
Lymphnode9.15
Lymphoma_burkitts(Daudi)13.9
Lymphoma_burkitts(Raji)15.75
MedullaOblongata9.75
OccipitalLobe9.55
OlfactoryBulb8.45
Ovary7.4
Pancreas9.1
PancreaticIslet11.3
ParietalLobe11.6
Pituitary13.1
Placenta9.9
Pons10.3
PrefrontalCortex11.4
Prostate12
Salivarygland10.05
SkeletalMuscle15.65
Skin9.8
SmoothMuscle11.7
Spinalcord12.35
SubthalamicNucleus9.9
SuperiorCervicalGanglion23.65
TemporalLobe10.95
Testis8.65
TestisGermCell8.9
TestisIntersitial9.05
TestisLeydigCell10.7
TestisSeminiferousTubule9.15
Thalamus10.95
Thymus8
Thyroid12.3
Tongue12.4
Tonsil10.4
Trachea9
TrigeminalGanglion18.3
Uterus7.95
UterusCorpus12.2
WholeBlood11.5
Wholebrain8.7
colon10.5
pineal_day11.26
pineal_night11.86
retina12.45
small_intestine8.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P150130
  • 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
Amygdala4.41 ± 0.71
Basal Forebrain3.88 ± 0.63
Basal Part of Pons4.09 ± 0.53
Cerebellar Cortex3.51 ± 0.54
Cerebellar Nuclei3.84 ± 0.58
Claustrum3.68 ± 0.82
Epithalamus3.75 ± 0.76
Frontal Lobe4.43 ± 0.52
Globus Pallidus4.02 ± 1.05
Hypothalamus3.94 ± 0.52
Insula4.59 ± 0.36
Limbic Lobe4.4 ± 0.83
Mesencephalon4.13 ± 0.71
Myelencephalon4.19 ± 0.64
Occipital Lobe3.87 ± 0.81
Parietal Lobe4.36 ± 0.78
Pontine Tegmentum4.17 ± 0.69
Striatum4.07 ± 0.99
Subthalamus4.16 ± 0.6
Temporal Lobe4.57 ± 0.59
Thalamus3.89 ± 0.61
White Matter3.06 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekha2CBCerebellum13.65
23.63
Plekha2CTXCerebral cortex20.47
17.18
Plekha2HIPHippocampal region34.25
50
Plekha2HPFHippocampal formation27.66
36.36
Plekha2HYHypothalamus5.75
5.03
Plekha2LSXLateral septal complex5.86
6.42
Plekha2MBMidbrain8.09
8.97
Plekha2MYMedulla17.44
24.72
Plekha2OLFOlfactory bulb31.91
42.93
Plekha2PPons14.19
17.64
Plekha2PALPallidum8.79
8.93
Plekha2RHPRetrohippocampal region18.47
15.94
Plekha2sAMYStriatum-like amygdalar nuclei6.66
5.4
Plekha2STRStriatum10.93
8.52
Plekha2STRdStriatum dorsal region11.43
8.69
Plekha2STRvStriatum ventral region12.61
9.37
Plekha2THThalamus5.58
5.33
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00038336 13 78 90 TPFCFVINALSQR 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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