AutismKB 2.0

Annotation Detail for EHMT2


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Basic Information Top
Gene Symbol:EHMT2 ( BAT8,C6orf30,DKFZp686H08213,FLJ35547,G9A,KMT1C,NG36 )
Gene Full Name: euchromatic histone-lysine N-methyltransferase 2
Band: 6p21.33
Quick LinksEntrez ID:10919; OMIM: 604599; Uniprot ID:EHMT2_HUMAN; ENSEMBL ID: ENSG00000204371; HGNC ID: 14129
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 body8 / 70761113
blastocyst13 / 62319208
fetus36 / 56401263
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult133 / 193912168
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor5 / 9417853
cervical tumor3 / 3436687
chondrosarcoma10 / 82823120
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor15 / 26384556
glioma8 / 10688374
head and neck tumor7 / 13630251
kidney tumor5 / 6895972
leukemia5 / 9584252
liver tumor9 / 9635993
lung tumor13 / 103127126
lymphoma6 / 7175583
non-neoplasia2 / 9725020
normal207 / 336030761
ovarian tumor7 / 7668291
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer9 / 10268087
retinoblastoma8 / 46356172
skin tumor14 / 124949112
soft tissue/muscle tissue tumor16 / 125191127
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood6 / 12347848
bone6 / 7165583
bone marrow0 / 488010 
brain77 / 110098969
cervix4 / 4817183
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue35 / 215722162
esophagus0 / 202090 
eye20 / 21105494
heart6 / 8962666
intestine16 / 23447268
kidney7 / 21177733
larynx2 / 2414582
liver11 / 20774352
lung25 / 33697474
lymph5 / 44270112
lymph node11 / 91610120
mammary gland7 / 15327145
mouth1 / 6705214
muscle10 / 10771592
nerve2 / 15768126
ovary8 / 10205178
pancreas3 / 21481213
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate22 / 189345116
salivary gland1 / 2015549
skin18 / 21057485
spleen3 / 5395255
stomach7 / 9661972
testis15 / 33044245
thymus3 / 8113136
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus19 / 23287881
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207484_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.6
Adipocyte5.9
AdrenalCortex6.35
Adrenalgland5.15
Amygdala6.35
Appendix6.25
AtrioventricularNode4.65
BDCA4+_DentriticCells6.85
Bonemarrow6.15
BronchialEpithelialCells5.95
CD105+_Endothelial6.05
CD14+_Monocytes6.4
CD19+_BCells(neg._sel.)6.5
CD33+_Myeloid7.45
CD34+7.7
CD4+_Tcells6.8
CD56+_NKCells7.35
CD71+_EarlyErythroid5.55
CD8+_Tcells5.85
CardiacMyocytes7.35
Caudatenucleus5.35
Cerebellum5.05
CerebellumPeduncles6.9
CiliaryGanglion4.55
CingulateCortex6.45
Colorectaladenocarcinoma5.85
DorsalRootGanglion4.6
FetalThyroid5.8
Fetalbrain6
Fetalliver5.2
Fetallung4.95
GlobusPallidus4.5
Heart7.75
Hypothalamus6.5
Kidney5.1
Leukemia_chronicMyelogenousK-5625.4
Leukemia_promyelocytic-HL-605.3
Leukemialymphoblastic(MOLT-4)4.9
Liver8
Lung6.55
Lymphnode5.15
Lymphoma_burkitts(Daudi)7.65
Lymphoma_burkitts(Raji)8.4
MedullaOblongata5.45
OccipitalLobe5.4
OlfactoryBulb4.75
Ovary4
Pancreas4.8
PancreaticIslet6.4
ParietalLobe6.2
Pituitary8.45
Placenta6.15
Pons5.7
PrefrontalCortex7.45
Prostate7.05
Salivarygland4.8
SkeletalMuscle9.9
Skin4.6
SmoothMuscle6.6
Spinalcord6.45
SubthalamicNucleus5.55
SuperiorCervicalGanglion6.75
TemporalLobe5.45
Testis5.15
TestisGermCell5
TestisIntersitial5.35
TestisLeydigCell5.85
TestisSeminiferousTubule5.1
Thalamus6.6
Thymus4.8
Thyroid7.55
Tongue5.7
Tonsil5.8
Trachea5.05
TrigeminalGanglion6.15
Uterus4.85
UterusCorpus5.45
WholeBlood6.55
Wholebrain5.05
colon6
pineal_day7.46
pineal_night7.18
retina7.15
small_intestine5.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P303390
  • 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
Amygdala6.3 ± 0.41
Basal Forebrain6.44 ± 0.17
Basal Part of Pons6.33 ± 0.16
Cerebellar Cortex6.1 ± 0.31
Cerebellar Nuclei6 ± 0.43
Claustrum6.29 ± 0.56
Epithalamus6.18 ± 0.34
Frontal Lobe6.1 ± 0.3
Globus Pallidus6.33 ± 0.24
Hypothalamus6.22 ± 0.25
Insula6.18 ± 0.28
Limbic Lobe6.21 ± 0.34
Mesencephalon6.13 ± 0.43
Myelencephalon6.22 ± 0.31
Occipital Lobe6.29 ± 0.29
Parietal Lobe6.26 ± 0.33
Pontine Tegmentum6.07 ± 0.38
Striatum6.57 ± 0.27
Subthalamus5.94 ± 0.56
Temporal Lobe6.23 ± 0.29
Thalamus6.13 ± 0.29
White Matter6.71 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ehmt2CBCerebellum46.14
78.08
Ehmt2CTXCerebral cortex74.69
63.27
Ehmt2HIPHippocampal region41.47
63.85
Ehmt2HPFHippocampal formation54.37
66.94
Ehmt2HYHypothalamus24.44
22.6
Ehmt2LSXLateral septal complex29.67
29.1
Ehmt2MBMidbrain30.2
31.15
Ehmt2MYMedulla50.73
68.23
Ehmt2OLFOlfactory bulb65.6
66.71
Ehmt2PPons36.87
47.24
Ehmt2PALPallidum16.26
16.06
Ehmt2RHPRetrohippocampal region75.3
72.58
Ehmt2sAMYStriatum-like amygdalar nuclei33.8
25.03
Ehmt2STRStriatum25.07
19.59
Ehmt2STRdStriatum dorsal region24.31
19.35
Ehmt2STRvStriatum ventral region21.55
15.03
Ehmt2THThalamus43.75
41.1
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00067374 14 1076 1089 FINHLCDPNIIPVR 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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