AutismKB 2.0

Annotation Detail for PLEKHA8


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Basic Information Top
Gene Symbol:PLEKHA8 ( DKFZp313M1034,DKFZp686J09164,FAPP2,MGC3358 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8
Band: 7p14.3
Quick LinksEntrez ID:84725; OMIM: 608639; Uniprot ID:PKHA8_HUMAN; ENSEMBL ID: ENSG00000106086; HGNC ID: 30037
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
blastocyst4 / 6231964
fetus18 / 56401231
neonate0 / 310970 
infant3 / 23620127
juvenile0 / 555560 
adult54 / 193912127
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor19 / 26384572
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal86 / 336030725
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain21 / 110098919
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye8 / 21105437
heart1 / 8962611
intestine2 / 2344728
kidney9 / 21177742
larynx0 / 241450 
liver3 / 20774314
lung3 / 3369748
lymph1 / 4427022
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary4 / 10205139
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta15 / 28082553
prostate2 / 18934510
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach0 / 966190 
testis14 / 33044242
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220157_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.6
Adipocyte4.55
AdrenalCortex5.45
Adrenalgland4
Amygdala4.7
Appendix4.85
AtrioventricularNode3.7
BDCA4+_DentriticCells7
Bonemarrow5.5
BronchialEpithelialCells4.45
CD105+_Endothelial4.6
CD14+_Monocytes4.95
CD19+_BCells(neg._sel.)4.8
CD33+_Myeloid5.85
CD34+6.15
CD4+_Tcells5.1
CD56+_NKCells9.05
CD71+_EarlyErythroid4.35
CD8+_Tcells4.55
CardiacMyocytes5.85
Caudatenucleus4.1
Cerebellum3.75
CerebellumPeduncles5.25
CiliaryGanglion3.35
CingulateCortex4.75
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.7
FetalThyroid4.45
Fetalbrain4.5
Fetalliver3.95
Fetallung3.85
GlobusPallidus3.35
Heart6.2
Hypothalamus4.9
Kidney4.2
Leukemia_chronicMyelogenousK-5624.05
Leukemia_promyelocytic-HL-604
Leukemialymphoblastic(MOLT-4)3.65
Liver6.1
Lung5.1
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.95
Lymphoma_burkitts(Raji)6.35
MedullaOblongata4.15
OccipitalLobe4.05
OlfactoryBulb3.6
Ovary3.1
Pancreas4
PancreaticIslet4.9
ParietalLobe4.9
Pituitary5.4
Placenta4.45
Pons4.4
PrefrontalCortex5.7
Prostate5.25
Salivarygland3.75
SkeletalMuscle6
Skin3.9
SmoothMuscle5
Spinalcord4.9
SubthalamicNucleus4.2
SuperiorCervicalGanglion7.1
TemporalLobe4.2
Testis3.95
TestisGermCell3.85
TestisIntersitial4.05
TestisLeydigCell4.65
TestisSeminiferousTubule3.95
Thalamus4.65
Thymus3.55
Thyroid5.65
Tongue4.55
Tonsil4.45
Trachea3.85
TrigeminalGanglion5.25
Uterus3.55
UterusCorpus4.6
WholeBlood5
Wholebrain3.85
colon4.55
pineal_day5.68
pineal_night5.46
retina5.475
small_intestine4.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_514_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
Amygdala6.31 ± 0.37
Basal Forebrain6.15 ± 0.24
Basal Part of Pons6.27 ± 0.18
Cerebellar Cortex6.46 ± 0.22
Cerebellar Nuclei6.4 ± 0.32
Claustrum6.22 ± 0.35
Epithalamus6.39 ± 0.2
Frontal Lobe6.01 ± 0.36
Globus Pallidus6.17 ± 0.41
Hypothalamus5.94 ± 0.39
Insula6.05 ± 0.35
Limbic Lobe5.92 ± 0.38
Mesencephalon6.06 ± 0.39
Myelencephalon6 ± 0.41
Occipital Lobe6.24 ± 0.43
Parietal Lobe6.09 ± 0.35
Pontine Tegmentum6.03 ± 0.46
Striatum5.86 ± 0.37
Subthalamus6.22 ± 0.03
Temporal Lobe6 ± 0.35
Thalamus6.12 ± 0.33
White Matter6.08 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekha8CBCerebellum5.43
5.71
Plekha8CTXCerebral cortex2.94
2.4
Plekha8HIPHippocampal region5.56
4.6
Plekha8HPFHippocampal formation4.37
3.65
Plekha8HYHypothalamus1.16
0.99
Plekha8LSXLateral septal complex0.5
0.44
Plekha8MBMidbrain4.8
4.86
Plekha8MYMedulla5.53
5.49
Plekha8OLFOlfactory bulb5.07
3.39
Plekha8PPons3.73
3.88
Plekha8PALPallidum2.74
2.21
Plekha8RHPRetrohippocampal region2.03
2.15
Plekha8sAMYStriatum-like amygdalar nuclei3.03
2.24
Plekha8STRStriatum1.53
1.08
Plekha8STRdStriatum dorsal region1.53
1.11
Plekha8STRvStriatum ventral region1.08
0.62
Plekha8THThalamus7.53
5.52
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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