AutismKB 2.0

Annotation Detail for EHMT1


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Basic Information Top
Gene Symbol:EHMT1 ( DEL9q34,DKFZp667M072,EUHMTASE1,Eu-HMTase1,FLJ12879,FP13812,GLP,KIAA1876,KMT1D,bA188C12.1 )
Gene Full Name: euchromatic histone-lysine N-methyltransferase 1
Band: 9q34.3
Quick LinksEntrez ID:79813; OMIM: 607001; Uniprot ID:EHMT1_HUMAN; ENSEMBL ID: ENSG00000181090; HGNC ID: 24650
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 body6 / 7076184
blastocyst9 / 62319144
fetus27 / 56401247
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult74 / 193912138
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor25 / 26384594
glioma7 / 10688365
head and neck tumor2 / 13630214
kidney tumor5 / 6895972
leukemia9 / 9584293
liver tumor1 / 9635910
lung tumor10 / 10312796
lymphoma15 / 71755209
non-neoplasia2 / 9725020
normal162 / 336030748
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor10 / 12494980
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood7 / 12347856
bone3 / 7165541
bone marrow0 / 488010 
brain33 / 110098929
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye12 / 21105456
heart0 / 896260 
intestine14 / 23447259
kidney10 / 21177747
larynx0 / 241450 
liver2 / 2077439
lung25 / 33697474
lymph13 / 44270293
lymph node24 / 91610261
mammary gland4 / 15327126
mouth0 / 670520 
muscle12 / 107715111
nerve1 / 1576863
ovary4 / 10205139
pancreas9 / 21481241
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta13 / 28082546
prostate9 / 18934547
salivary gland2 / 2015599
skin10 / 21057447
spleen2 / 5395237
stomach7 / 9661972
testis17 / 33044251
thymus1 / 8113112
thyroid0 / 474730 
tonsil4 / 16999235
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219339_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.2
Adipocyte7.5
AdrenalCortex6.3
Adrenalgland7.15
Amygdala5.8
Appendix6
AtrioventricularNode5.4
BDCA4+_DentriticCells7.5
Bonemarrow7.35
BronchialEpithelialCells5.8
CD105+_Endothelial7.9
CD14+_Monocytes6.25
CD19+_BCells(neg._sel.)7.15
CD33+_Myeloid7.85
CD34+7.75
CD4+_Tcells6.55
CD56+_NKCells13.25
CD71+_EarlyErythroid6.15
CD8+_Tcells5.8
CardiacMyocytes7.9
Caudatenucleus5.6
Cerebellum4.9
CerebellumPeduncles7.1
CiliaryGanglion5.5
CingulateCortex6.35
Colorectaladenocarcinoma5.9
DorsalRootGanglion4.6
FetalThyroid5.9
Fetalbrain6.35
Fetalliver5.3
Fetallung4.75
GlobusPallidus9.95
Heart8.7
Hypothalamus5.95
Kidney6.45
Leukemia_chronicMyelogenousK-5626.7
Leukemia_promyelocytic-HL-605.95
Leukemialymphoblastic(MOLT-4)5.15
Liver8.85
Lung6.3
Lymphnode5.2
Lymphoma_burkitts(Daudi)7.8
Lymphoma_burkitts(Raji)8.7
MedullaOblongata5.8
OccipitalLobe6.5
OlfactoryBulb7.4
Ovary4
Pancreas4.85
PancreaticIslet6.5
ParietalLobe6.35
Pituitary7.05
Placenta6.45
Pons7.25
PrefrontalCortex6.7
Prostate6.6
Salivarygland5.3
SkeletalMuscle13.4
Skin5.4
SmoothMuscle6.8
Spinalcord6.5
SubthalamicNucleus9.6
SuperiorCervicalGanglion6.9
TemporalLobe5.55
Testis5.25
TestisGermCell5.85
TestisIntersitial7.1
TestisLeydigCell7.35
TestisSeminiferousTubule7.6
Thalamus6.2
Thymus4.45
Thyroid7.25
Tongue6.3
Tonsil5.9
Trachea5.35
TrigeminalGanglion6.05
Uterus4.7
UterusCorpus8.8
WholeBlood6.5
Wholebrain4.9
colon6.05
pineal_day7.16
pineal_night7
retina6.825
small_intestine5.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P20894
  • 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
Amygdala3.68 ± 0.72
Basal Forebrain3.48 ± 0.27
Basal Part of Pons3.47 ± 0.38
Cerebellar Cortex4.19 ± 0.31
Cerebellar Nuclei3.56 ± 0.64
Claustrum3.54 ± 0.63
Epithalamus3.82 ± 0.37
Frontal Lobe3.5 ± 0.63
Globus Pallidus4.49 ± 0.66
Hypothalamus3.36 ± 0.62
Insula3.35 ± 0.46
Limbic Lobe3.59 ± 0.64
Mesencephalon3.82 ± 0.71
Myelencephalon3.71 ± 0.63
Occipital Lobe4.06 ± 0.65
Parietal Lobe3.74 ± 0.53
Pontine Tegmentum3.63 ± 0.65
Striatum3.84 ± 0.69
Subthalamus3.86 ± 0.33
Temporal Lobe3.54 ± 0.61
Thalamus3.83 ± 0.61
White Matter4.74 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ehmt1CBCerebellum10.12
10.08
Ehmt1CTXCerebral cortex18.46
11.76
Ehmt1HIPHippocampal region18.78
20.27
Ehmt1HPFHippocampal formation16.4
15.18
Ehmt1HYHypothalamus6.7
4.98
Ehmt1LSXLateral septal complex11.15
6.89
Ehmt1MBMidbrain7.93
6.34
Ehmt1MYMedulla18.13
16.55
Ehmt1OLFOlfactory bulb27.96
20.92
Ehmt1PPons9.56
8.61
Ehmt1PALPallidum8.58
6.42
Ehmt1RHPRetrohippocampal region11.94
7.79
Ehmt1sAMYStriatum-like amygdalar nuclei5.65
3.8
Ehmt1STRStriatum7.84
5.44
Ehmt1STRdStriatum dorsal region6.18
4.56
Ehmt1STRvStriatum ventral region13.93
8.7
Ehmt1THThalamus13.16
10.06
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011539 24 529 552 SREITTLANNQCMATESVDHELGR 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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