AutismKB 2.0

Annotation Detail for PLEKHM1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PLEKHM1 ( AP162,B2,KIAA0356,OPTB6 )
Gene Full Name: pleckstrin homology domain containing, family M (with RUN domain) member 1
Band: 17q21.31
Quick LinksEntrez ID:9842; OMIM: 611466; Uniprot ID:PKHM1_HUMAN; ENSEMBL ID: ENSG00000225190; HGNC ID: 29017
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
blastocyst2 / 6231932
fetus29 / 56401251
neonate4 / 31097128
infant0 / 236200 
juvenile1 / 5555617
adult90 / 193912146
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma4 / 17475228
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor12 / 26384545
glioma9 / 10688384
head and neck tumor17 / 136302124
kidney tumor0 / 689590 
leukemia10 / 95842104
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal142 / 336030742
ovarian tumor2 / 7668226
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor4 / 12494932
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 
bladder5 / 29757168
blood8 / 12347864
bone7 / 7165597
bone marrow2 / 4880140
brain75 / 110098968
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye10 / 21105447
heart3 / 8962633
intestine18 / 23447276
kidney1 / 2117774
larynx4 / 24145165
liver4 / 20774319
lung10 / 33697429
lymph0 / 442700 
lymph node8 / 9161087
mammary gland4 / 15327126
mouth13 / 67052193
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate3 / 18934515
salivary gland3 / 20155148
skin5 / 21057423
spleen2 / 5395237
stomach2 / 9661920
testis10 / 33044230
thymus7 / 8113186
thyroid0 / 474730 
tonsil1 / 1699958
trachea6 / 52413114
umbilical cord8 / 13680584
uterus13 / 23287855
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212717_at
Cell line Expression level Expression bar
721_B_lymphoblasts27.35
Adipocyte28.75
AdrenalCortex30.25
Adrenalgland24.35
Amygdala33.4
Appendix26.05
AtrioventricularNode21.65
BDCA4+_DentriticCells97.8
Bonemarrow28.4
BronchialEpithelialCells24.8
CD105+_Endothelial29.55
CD14+_Monocytes103.1
CD19+_BCells(neg._sel.)57.05
CD33+_Myeloid202.6
CD34+41.55
CD4+_Tcells62.95
CD56+_NKCells98.15
CD71+_EarlyErythroid53.8
CD8+_Tcells82.35
CardiacMyocytes36.7
Caudatenucleus22.3
Cerebellum38.75
CerebellumPeduncles36.55
CiliaryGanglion20.1
CingulateCortex28.4
Colorectaladenocarcinoma32.75
DorsalRootGanglion21.6
FetalThyroid27.4
Fetalbrain27.6
Fetalliver23.55
Fetallung23.7
GlobusPallidus19.7
Heart58
Hypothalamus31.05
Kidney23.25
Leukemia_chronicMyelogenousK-56225.8
Leukemia_promyelocytic-HL-6019.5
Leukemialymphoblastic(MOLT-4)40.4
Liver37.3
Lung91.3
Lymphnode26.4
Lymphoma_burkitts(Daudi)36.3
Lymphoma_burkitts(Raji)26.85
MedullaOblongata24.5
OccipitalLobe26.1
OlfactoryBulb21.55
Ovary19.95
Pancreas25.95
PancreaticIslet31.1
ParietalLobe29.65
Pituitary33.9
Placenta40.9
Pons27.15
PrefrontalCortex50.35
Prostate65.3
Salivarygland23.15
SkeletalMuscle33.2
Skin21.85
SmoothMuscle33
Spinalcord31
SubthalamicNucleus19
SuperiorCervicalGanglion38.1
TemporalLobe26.5
Testis24.55
TestisGermCell21.75
TestisIntersitial24.05
TestisLeydigCell25.6
TestisSeminiferousTubule23.8
Thalamus29.35
Thymus25.5
Thyroid56.25
Tongue31.9
Tonsil27
Trachea23.6
TrigeminalGanglion28.65
Uterus25.1
UterusCorpus24.95
WholeBlood206
Wholebrain23.35
colon60.25
pineal_day44.34
pineal_night47.44
retina53.4
small_intestine43.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P49514
  • 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
Amygdala4.17 ± 0.47
Basal Forebrain3.76 ± 0.52
Basal Part of Pons4.17 ± 0.6
Cerebellar Cortex4.1 ± 0.41
Cerebellar Nuclei3.88 ± 0.55
Claustrum4.01 ± 0.78
Epithalamus3.34 ± 0.5
Frontal Lobe3.72 ± 0.57
Globus Pallidus4.26 ± 0.46
Hypothalamus3.31 ± 0.7
Insula3.7 ± 0.65
Limbic Lobe4.13 ± 0.62
Mesencephalon3.86 ± 0.58
Myelencephalon3.95 ± 0.62
Occipital Lobe4.45 ± 0.58
Parietal Lobe3.95 ± 0.53
Pontine Tegmentum3.96 ± 0.69
Striatum4.16 ± 0.8
Subthalamus3.92 ± 1.04
Temporal Lobe3.8 ± 0.61
Thalamus4.02 ± 0.58
White Matter4.73 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekhm1CBCerebellum13.78
12.02
Plekhm1CTXCerebral cortex39.86
14.64
Plekhm1HIPHippocampal region18.67
12.3
Plekhm1HPFHippocampal formation25.97
13.47
Plekhm1HYHypothalamus11.19
3.18
Plekhm1LSXLateral septal complex3.64
0.96
Plekhm1MBMidbrain12.71
5.1
Plekhm1MYMedulla27.03
14.94
Plekhm1OLFOlfactory bulb37.29
18.01
Plekhm1PPons20.26
8.35
Plekhm1PALPallidum10.32
3.35
Plekhm1RHPRetrohippocampal region42.32
16.58
Plekhm1sAMYStriatum-like amygdalar nuclei21.5
6.61
Plekhm1STRStriatum9.93
3.18
Plekhm1STRdStriatum dorsal region9.11
2.88
Plekhm1STRvStriatum ventral region10.91
3.8
Plekhm1THThalamus10.84
2.98
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved