AutismKB 2.0

Annotation Detail for PLEKHA4


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Basic Information Top
Gene Symbol:PLEKHA4 ( PEPP1 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4
Band: 19q13.33
Quick LinksEntrez ID:57664; OMIM: 607769; Uniprot ID:PKHA4_HUMAN; ENSEMBL ID: ENSG00000105559; HGNC ID: 14339
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 
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult22 / 193912111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma8 / 10688374
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia0 / 972500 
normal48 / 336030714
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor21 / 124949168
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood3 / 12347824
bone3 / 7165541
bone marrow2 / 4880140
brain12 / 110098910
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye6 / 21105428
heart3 / 8962633
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver3 / 20774314
lung4 / 33697411
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin25 / 210574118
spleen2 / 5395237
stomach1 / 9661910
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219011_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.35
Adipocyte4.3
AdrenalCortex4.35
Adrenalgland3.6
Amygdala4.4
Appendix4.25
AtrioventricularNode33.65
BDCA4+_DentriticCells4.7
Bonemarrow4.15
BronchialEpithelialCells4.2
CD105+_Endothelial4.3
CD14+_Monocytes4.55
CD19+_BCells(neg._sel.)4.95
CD33+_Myeloid5.5
CD34+5.45
CD4+_Tcells4.6
CD56+_NKCells5.15
CD71+_EarlyErythroid4
CD8+_Tcells4.1
CardiacMyocytes5.3
Caudatenucleus3.85
Cerebellum3.45
CerebellumPeduncles5.6
CiliaryGanglion6.15
CingulateCortex4.4
Colorectaladenocarcinoma4.25
DorsalRootGanglion18.4
FetalThyroid4.4
Fetalbrain4.3
Fetalliver3.65
Fetallung3.6
GlobusPallidus3.2
Heart5.35
Hypothalamus4.65
Kidney3.6
Leukemia_chronicMyelogenousK-5623.85
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.45
Liver5.65
Lung4.7
Lymphnode3.7
Lymphoma_burkitts(Daudi)5.4
Lymphoma_burkitts(Raji)5.9
MedullaOblongata3.85
OccipitalLobe3.8
OlfactoryBulb150.55
Ovary2.8
Pancreas3.45
PancreaticIslet4.5
ParietalLobe4.45
Pituitary5
Placenta4.45
Pons4
PrefrontalCortex5.25
Prostate5
Salivarygland3.4
SkeletalMuscle5.05
Skin3.4
SmoothMuscle4.8
Spinalcord6.35
SubthalamicNucleus5.55
SuperiorCervicalGanglion4.75
TemporalLobe3.85
Testis3.7
TestisGermCell3.55
TestisIntersitial3.55
TestisLeydigCell4.2
TestisSeminiferousTubule3.65
Thalamus4.35
Thymus3.35
Thyroid5.35
Tongue4.1
Tonsil4.15
Trachea3.55
TrigeminalGanglion6.9
Uterus3.45
UterusCorpus3.75
WholeBlood4.65
Wholebrain3.55
colon4.25
pineal_day5.3
pineal_night5.24
retina5.2
small_intestine4.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P67360
  • 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
Amygdala3.18 ± 1.12
Basal Forebrain2.61 ± 0.29
Basal Part of Pons2.21 ± 0.63
Cerebellar Cortex2.24 ± 0.66
Cerebellar Nuclei2.74 ± 0.73
Claustrum3.41 ± 0.9
Epithalamus4.37 ± 0.79
Frontal Lobe2.51 ± 0.75
Globus Pallidus4.04 ± 0.77
Hypothalamus2.69 ± 0.76
Insula2.65 ± 0.77
Limbic Lobe2.49 ± 0.83
Mesencephalon2.74 ± 0.76
Myelencephalon2.69 ± 0.81
Occipital Lobe2.31 ± 0.8
Parietal Lobe2.66 ± 0.88
Pontine Tegmentum2.67 ± 0.84
Striatum3.18 ± 0.73
Subthalamus2.67 ± 0.53
Temporal Lobe2.47 ± 0.86
Thalamus2.5 ± 0.57
White Matter2.57 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekha4CBCerebellum12.89
21.4
Plekha4CTXCerebral cortex29.82
25.06
Plekha4HIPHippocampal region11.54
11.56
Plekha4HPFHippocampal formation10.34
9.46
Plekha4HYHypothalamus0.96
0.78
Plekha4LSXLateral septal complex0.61
0.52
Plekha4MBMidbrain1.94
2.85
Plekha4MYMedulla2.82
4.49
Plekha4OLFOlfactory bulb9.01
8.33
Plekha4PPons1.59
2.44
Plekha4PALPallidum3.08
2.96
Plekha4RHPRetrohippocampal region8.31
6.59
Plekha4sAMYStriatum-like amygdalar nuclei5.78
4.62
Plekha4STRStriatum3.14
3.18
Plekha4STRdStriatum dorsal region3.22
3.31
Plekha4STRvStriatum ventral region2.13
2.83
Plekha4THThalamus6.55
6.36
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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