AutismKB 2.0

Annotation Detail for PLEKHA5


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Basic Information Top
Gene Symbol:PLEKHA5 ( FLJ10667,FLJ26734,FLJ31492,KIAA1686,PEPP-2,PEPP2 )
Gene Full Name: pleckstrin homology domain containing, family A member 5
Band: 12p12.3
Quick LinksEntrez ID:54477; OMIM: 607770; Uniprot ID:PKHA5_HUMAN; ENSEMBL ID: ENSG00000052126; HGNC ID: 30036
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
blastocyst7 / 62319112
fetus23 / 56401240
neonate2 / 3109764
infant0 / 236200 
juvenile3 / 5555653
adult98 / 193912150
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor39 / 263845147
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal144 / 336030742
ovarian tumor2 / 7668226
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites2 / 4001549
bladder1 / 2975733
blood1 / 1234788
bone0 / 716550 
bone marrow2 / 4880140
brain28 / 110098925
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye11 / 21105452
heart5 / 8962655
intestine4 / 23447217
kidney20 / 21177794
larynx1 / 2414541
liver7 / 20774333
lung13 / 33697438
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth3 / 6705244
muscle9 / 10771583
nerve1 / 1576863
ovary2 / 10205119
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta13 / 28082546
prostate4 / 18934521
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach2 / 9661920
testis34 / 330442102
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220952_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.65
Adipocyte5.6
AdrenalCortex8.25
Adrenalgland81.95
Amygdala41.05
Appendix6.45
AtrioventricularNode4.85
BDCA4+_DentriticCells4.85
Bonemarrow5.5
BronchialEpithelialCells11.95
CD105+_Endothelial6.15
CD14+_Monocytes5.2
CD19+_BCells(neg._sel.)5.1
CD33+_Myeloid7.1
CD34+14.8
CD4+_Tcells4.3
CD56+_NKCells7.45
CD71+_EarlyErythroid4.75
CD8+_Tcells4.55
CardiacMyocytes6.9
Caudatenucleus21.65
Cerebellum4.55
CerebellumPeduncles6.15
CiliaryGanglion4.5
CingulateCortex20.05
Colorectaladenocarcinoma13.45
DorsalRootGanglion4.6
FetalThyroid6.25
Fetalbrain83.25
Fetalliver5.5
Fetallung6
GlobusPallidus4.5
Heart6.25
Hypothalamus28.45
Kidney20
Leukemia_chronicMyelogenousK-5624.85
Leukemia_promyelocytic-HL-6052.45
Leukemialymphoblastic(MOLT-4)4.55
Liver6.55
Lung6.25
Lymphnode5
Lymphoma_burkitts(Daudi)5.5
Lymphoma_burkitts(Raji)42.6
MedullaOblongata9.55
OccipitalLobe11.8
OlfactoryBulb6.55
Ovary4.15
Pancreas9.9
PancreaticIslet6.75
ParietalLobe7.55
Pituitary21.95
Placenta6.3
Pons5.5
PrefrontalCortex191.75
Prostate30.25
Salivarygland4.9
SkeletalMuscle6.6
Skin4.9
SmoothMuscle7.4
Spinalcord35.75
SubthalamicNucleus8.3
SuperiorCervicalGanglion7
TemporalLobe6.95
Testis13.9
TestisGermCell11.7
TestisIntersitial5.4
TestisLeydigCell6.05
TestisSeminiferousTubule5.55
Thalamus9.1
Thymus5
Thyroid29.25
Tongue6.1
Tonsil5.15
Trachea34
TrigeminalGanglion5.95
Uterus101.1
UterusCorpus5.4
WholeBlood5.25
Wholebrain5.7
colon11.75
pineal_day23.68
pineal_night26.9
retina17.85
small_intestine11.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P218068
  • 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
Amygdala6.03 ± 0.65
Basal Forebrain6.02 ± 0.4
Basal Part of Pons6.84 ± 0.46
Cerebellar Cortex6.28 ± 0.32
Cerebellar Nuclei6.07 ± 0.52
Claustrum6.49 ± 0.65
Epithalamus7.5 ± 0.73
Frontal Lobe6.68 ± 0.44
Globus Pallidus5.78 ± 0.32
Hypothalamus6.67 ± 0.59
Insula6.81 ± 0.46
Limbic Lobe6.3 ± 0.57
Mesencephalon6.49 ± 0.67
Myelencephalon6.41 ± 0.61
Occipital Lobe6.2 ± 0.63
Parietal Lobe6.65 ± 0.54
Pontine Tegmentum6.4 ± 0.43
Striatum6.28 ± 0.74
Subthalamus7.11 ± 0.61
Temporal Lobe6.7 ± 0.43
Thalamus6.55 ± 0.5
White Matter5.59 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekha5CBCerebellum81.46
82.96
Plekha5CTXCerebral cortex100
100
Plekha5HIPHippocampal region95.8
100
Plekha5HPFHippocampal formation100
100
Plekha5HYHypothalamus61.86
50.47
Plekha5LSXLateral septal complex100
97.85
Plekha5MBMidbrain69.15
65.22
Plekha5MYMedulla58.97
67.66
Plekha5OLFOlfactory bulb100
100
Plekha5PPons58.39
60.95
Plekha5PALPallidum76.16
74.46
Plekha5RHPRetrohippocampal region100
100
Plekha5sAMYStriatum-like amygdalar nuclei95.46
87.63
Plekha5STRStriatum100
100
Plekha5STRdStriatum dorsal region100
100
Plekha5STRvStriatum ventral region100
100
Plekha5THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00068525 20 923 942 GLNVIGASDQSPLQSPSNLR Peptide Atlas
PKHA5_HUMAN_734 22 734 755 NQMQEQLDHLGEVQTESAGIQR PRIDE

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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