AutismKB 2.0

Annotation Detail for PLEKHA6


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Basic Information Top
Gene Symbol:PLEKHA6 ( KIAA0969,MGC176733,PEPP3 )
Gene Full Name: pleckstrin homology domain containing, family A member 6
Band: 1q32.1
Quick LinksEntrez ID:22874; OMIM: 607771; Uniprot ID:PKHA6_HUMAN; ENSEMBL ID: ENSG00000143850; HGNC ID: 17053
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 body1 / 7076114
blastocyst1 / 6231916
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult80 / 193912141
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor0 / 2638450 
glioma6 / 10688356
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal111 / 336030733
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain35 / 110098931
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye8 / 21105437
heart3 / 8962633
intestine19 / 23447281
kidney6 / 21177728
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle2 / 10771518
nerve2 / 15768126
ovary2 / 10205119
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta32 / 280825113
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach7 / 9661972
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205093_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.05
Adipocyte6.9
AdrenalCortex7.15
Adrenalgland5.8
Amygdala7.45
Appendix6.9
AtrioventricularNode9.4
BDCA4+_DentriticCells6.75
Bonemarrow6.75
BronchialEpithelialCells6.55
CD105+_Endothelial4.2
CD14+_Monocytes6.15
CD19+_BCells(neg._sel.)6.3
CD33+_Myeloid9
CD34+8.15
CD4+_Tcells6.6
CD56+_NKCells8.2
CD71+_EarlyErythroid6.1
CD8+_Tcells5.65
CardiacMyocytes8.5
Caudatenucleus6.6
Cerebellum5.8
CerebellumPeduncles11.1
CiliaryGanglion5.15
CingulateCortex8.6
Colorectaladenocarcinoma6.75
DorsalRootGanglion5.35
FetalThyroid6.6
Fetalbrain7
Fetalliver5.95
Fetallung5.85
GlobusPallidus7.25
Heart10.45
Hypothalamus7.7
Kidney8.15
Leukemia_chronicMyelogenousK-5625.8
Leukemia_promyelocytic-HL-605.7
Leukemialymphoblastic(MOLT-4)5.6
Liver9.15
Lung7.75
Lymphnode5.65
Lymphoma_burkitts(Daudi)8.75
Lymphoma_burkitts(Raji)8.4
MedullaOblongata7.35
OccipitalLobe6.35
OlfactoryBulb6.1
Ovary4.5
Pancreas5.55
PancreaticIslet7.8
ParietalLobe7.65
Pituitary8.15
Placenta53.3
Pons6.6
PrefrontalCortex8.85
Prostate8.3
Salivarygland5.5
SkeletalMuscle7.75
Skin5.95
SmoothMuscle7.95
Spinalcord7.6
SubthalamicNucleus14.05
SuperiorCervicalGanglion7.7
TemporalLobe9.25
Testis6.5
TestisGermCell5.9
TestisIntersitial5.8
TestisLeydigCell6.85
TestisSeminiferousTubule6
Thalamus7.7
Thymus5.6
Thyroid8.35
Tongue6.7
Tonsil6.75
Trachea5.85
TrigeminalGanglion12
Uterus5.75
UterusCorpus9.55
WholeBlood6.7
Wholebrain6
colon7
pineal_day8.78
pineal_night7.78
retina9.275
small_intestine6.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P148753
  • 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
Amygdala4.92 ± 0.91
Basal Forebrain4.17 ± 0.58
Basal Part of Pons4.62 ± 0.73
Cerebellar Cortex4.34 ± 0.63
Cerebellar Nuclei4.83 ± 0.48
Claustrum5.13 ± 0.84
Epithalamus3.88 ± 0.65
Frontal Lobe4.4 ± 0.55
Globus Pallidus4.51 ± 0.8
Hypothalamus4.09 ± 0.61
Insula4.44 ± 0.62
Limbic Lobe4.65 ± 0.69
Mesencephalon4.61 ± 0.6
Myelencephalon4.5 ± 0.71
Occipital Lobe5.03 ± 0.72
Parietal Lobe4.67 ± 0.68
Pontine Tegmentum4.7 ± 0.61
Striatum4.97 ± 0.66
Subthalamus4.19 ± 0.7
Temporal Lobe4.61 ± 0.65
Thalamus4.79 ± 0.54
White Matter2.99 ± 0.76
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekha6CBCerebellum64.97
100
Plekha6CTXCerebral cortex100
100
Plekha6HIPHippocampal region75.05
100
Plekha6HPFHippocampal formation100
100
Plekha6HYHypothalamus100
100
Plekha6LSXLateral septal complex100
100
Plekha6MBMidbrain100
100
Plekha6MYMedulla100
100
Plekha6OLFOlfactory bulb100
100
Plekha6PPons100
100
Plekha6PALPallidum100
100
Plekha6RHPRetrohippocampal region100
100
Plekha6sAMYStriatum-like amygdalar nuclei100
100
Plekha6STRStriatum100
100
Plekha6STRdStriatum dorsal region100
100
Plekha6STRvStriatum ventral region100
100
Plekha6THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00763501 15 867 881 SIHEVDISNLEAALR Peptide Atlas
PKHA6_HUMAN_990 14 990 1003 RIEISCALATEASR 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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