AutismKB 2.0

Annotation Detail for EZH2


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Basic Information Top
Gene Symbol:EZH2 ( ENX-1,ENX1,EZH1,KMT6,KMT6A,MGC9169 )
Gene Full Name: enhancer of zeste homolog 2 (Drosophila)
Band: 7q36.1
Quick LinksEntrez ID:2146; OMIM: 601573; Uniprot ID:EZH2_HUMAN; ENSEMBL ID: ENSG00000106462; HGNC ID: 3527
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 body5 / 7076170
blastocyst8 / 62319128
fetus48 / 56401285
neonate0 / 310970 
infant2 / 2362084
juvenile10 / 55556179
adult95 / 193912148
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor48 / 263845181
glioma3 / 10688328
head and neck tumor4 / 13630229
kidney tumor8 / 68959116
leukemia5 / 9584252
liver tumor8 / 9635983
lung tumor8 / 10312777
lymphoma5 / 7175569
non-neoplasia0 / 972500 
normal144 / 336030742
ovarian tumor6 / 7668278
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor6 / 12494948
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites5 / 40015124
bladder0 / 297570 
blood1 / 1234788
bone6 / 7165583
bone marrow2 / 4880140
brain25 / 110098922
cervix1 / 4817120
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye5 / 21105423
heart4 / 8962644
intestine13 / 23447255
kidney12 / 21177756
larynx1 / 2414541
liver13 / 20774362
lung18 / 33697453
lymph2 / 4427045
lymph node13 / 91610141
mammary gland6 / 15327139
mouth2 / 6705229
muscle7 / 10771564
nerve0 / 157680 
ovary7 / 10205168
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate2 / 18934510
salivary gland0 / 201550 
skin8 / 21057437
spleen1 / 5395218
stomach7 / 9661972
testis48 / 330442145
thymus15 / 81131184
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203358_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts312.6
Adipocyte7.3
AdrenalCortex10.5
Adrenalgland6.65
Amygdala7.35
Appendix9.7
AtrioventricularNode8.05
BDCA4+_DentriticCells16.3
Bonemarrow8.85
BronchialEpithelialCells7.1
CD105+_Endothelial187.3
CD14+_Monocytes8.3
CD19+_BCells(neg._sel.)7.75
CD33+_Myeloid10.95
CD34+186.85
CD4+_Tcells7.8
CD56+_NKCells11.55
CD71+_EarlyErythroid195.7
CD8+_Tcells8.8
CardiacMyocytes14.75
Caudatenucleus6.65
Cerebellum6.1
CerebellumPeduncles9.25
CiliaryGanglion7.4
CingulateCortex8
Colorectaladenocarcinoma66.5
DorsalRootGanglion7.35
FetalThyroid8
Fetalbrain8.15
Fetalliver11.45
Fetallung7.2
GlobusPallidus6.15
Heart10.7
Hypothalamus7.75
Kidney6.75
Leukemia_chronicMyelogenousK-56262.95
Leukemia_promyelocytic-HL-60169.5
Leukemialymphoblastic(MOLT-4)190.75
Liver10.85
Lung8
Lymphnode6.45
Lymphoma_burkitts(Daudi)180
Lymphoma_burkitts(Raji)71.85
MedullaOblongata6.4
OccipitalLobe6.55
OlfactoryBulb5.9
Ovary5.5
Pancreas6.3
PancreaticIslet8.1
ParietalLobe8.5
Pituitary8.55
Placenta7.45
Pons7.9
PrefrontalCortex8.6
Prostate8.25
Salivarygland10.5
SkeletalMuscle11.75
Skin7.15
SmoothMuscle8.55
Spinalcord7.8
SubthalamicNucleus7.45
SuperiorCervicalGanglion11.35
TemporalLobe6.85
Testis39.15
TestisGermCell22.4
TestisIntersitial44.5
TestisLeydigCell32.35
TestisSeminiferousTubule9.2
Thalamus7.65
Thymus43.1
Thyroid8.9
Tongue9.65
Tonsil8.7
Trachea6.1
TrigeminalGanglion10.55
Uterus5.85
UterusCorpus7.35
WholeBlood7.95
Wholebrain5.65
colon7.7
pineal_day8.86
pineal_night8.68
retina8.85
small_intestine7.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P259641
  • 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
Amygdala4.57 ± 0.53
Basal Forebrain4.73 ± 0.37
Basal Part of Pons4.75 ± 0.48
Cerebellar Cortex5.26 ± 0.34
Cerebellar Nuclei4.79 ± 0.45
Claustrum3.96 ± 0.67
Epithalamus4.91 ± 0.71
Frontal Lobe4.54 ± 0.55
Globus Pallidus4.36 ± 0.44
Hypothalamus4.29 ± 0.78
Insula4.62 ± 0.52
Limbic Lobe4.6 ± 0.55
Mesencephalon4.56 ± 0.48
Myelencephalon4.62 ± 0.59
Occipital Lobe4.8 ± 0.42
Parietal Lobe4.58 ± 0.52
Pontine Tegmentum4.55 ± 0.58
Striatum4.81 ± 0.61
Subthalamus4.48 ± 0.92
Temporal Lobe4.68 ± 0.46
Thalamus4.5 ± 0.54
White Matter5.33 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ezh2CBCerebellum0.21
0.73
Ezh2CTXCerebral cortex0.35
0.85
Ezh2HIPHippocampal region0.41
1.04
Ezh2HPFHippocampal formation1.09
2.93
Ezh2HYHypothalamus0.68
1.65
Ezh2LSXLateral septal complex0.76
1.17
Ezh2MBMidbrain0.56
1.47
Ezh2MYMedulla0.54
0.97
Ezh2OLFOlfactory bulb1.15
2.16
Ezh2PPons1.37
3.22
Ezh2PALPallidum1.18
1.9
Ezh2RHPRetrohippocampal region2.69
5.14
Ezh2sAMYStriatum-like amygdalar nuclei0.22
0.34
Ezh2STRStriatum1.3
2.01
Ezh2STRdStriatum dorsal region1.25
2.07
Ezh2STRvStriatum ventral region2.11
2.83
Ezh2THThalamus0.14
0.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EZH2_HUMAN_473 18 473 490 ESSIIAPAPAEDVDTPPR PRIDE
PAp00002192 13 236 248 EQSLHSFHTLFCR Peptide Atlas

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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