AutismKB 2.0

Annotation Detail for ETHE1


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Basic Information Top
Gene Symbol:ETHE1 ( HSCO,YF13H12 )
Gene Full Name: ethylmalonic encephalopathy 1
Band: 19q13.31
Quick LinksEntrez ID:23474; OMIM: 608451; Uniprot ID:ETHE1_HUMAN; ENSEMBL ID: ENSG00000105755; HGNC ID: 23287
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 body2 / 7076128
blastocyst0 / 623190 
fetus31 / 56401254
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult84 / 193912143
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor10 / 11424687
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor2 / 2638457
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal103 / 336030730
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder2 / 2975767
blood4 / 12347832
bone0 / 716550 
bone marrow0 / 488010 
brain18 / 110098916
cervix1 / 4817120
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye7 / 21105433
heart3 / 8962633
intestine31 / 234472132
kidney14 / 21177766
larynx0 / 241450 
liver3 / 20774314
lung12 / 33697435
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta12 / 28082542
prostate11 / 18934558
salivary gland0 / 201550 
skin8 / 21057437
spleen1 / 5395218
stomach5 / 9661951
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord2 / 13680146
uterus11 / 23287847
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204034_at
Cell line Expression level Expression bar
721_B_lymphoblasts44.85
Adipocyte30.7
AdrenalCortex15.95
Adrenalgland35
Amygdala10.35
Appendix12.4
AtrioventricularNode25.8
BDCA4+_DentriticCells56.9
Bonemarrow88.3
BronchialEpithelialCells523.35
CD105+_Endothelial12
CD14+_Monocytes300.9
CD19+_BCells(neg._sel.)41.8
CD33+_Myeloid338.7
CD34+149.05
CD4+_Tcells52.15
CD56+_NKCells92.2
CD71+_EarlyErythroid5.95
CD8+_Tcells29.6
CardiacMyocytes74.75
Caudatenucleus16.7
Cerebellum21.95
CerebellumPeduncles21.1
CiliaryGanglion10.4
CingulateCortex19.05
Colorectaladenocarcinoma106.65
DorsalRootGanglion13.8
FetalThyroid16.25
Fetalbrain16.05
Fetalliver20.55
Fetallung21.7
GlobusPallidus17.5
Heart129.15
Hypothalamus18.7
Kidney35.25
Leukemia_chronicMyelogenousK-56214.9
Leukemia_promyelocytic-HL-6015.75
Leukemialymphoblastic(MOLT-4)54
Liver246.35
Lung161.2
Lymphnode23.6
Lymphoma_burkitts(Daudi)18.4
Lymphoma_burkitts(Raji)19.45
MedullaOblongata12.9
OccipitalLobe9.3
OlfactoryBulb24.9
Ovary12.65
Pancreas155.85
PancreaticIslet68.7
ParietalLobe9.85
Pituitary46.8
Placenta76.55
Pons9.45
PrefrontalCortex12.4
Prostate59.4
Salivarygland31.2
SkeletalMuscle6.4
Skin18.2
SmoothMuscle90
Spinalcord20.1
SubthalamicNucleus13.75
SuperiorCervicalGanglion12.4
TemporalLobe19.1
Testis7
TestisGermCell7.15
TestisIntersitial5.6
TestisLeydigCell14.4
TestisSeminiferousTubule15.75
Thalamus21.05
Thymus39.55
Thyroid23.4
Tongue50.6
Tonsil55.4
Trachea30.9
TrigeminalGanglion14.75
Uterus17.65
UterusCorpus12.7
WholeBlood57.9
Wholebrain18.95
colon460.5
pineal_day11.86
pineal_night11.58
retina17.725
small_intestine102.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15428_PI416261804
  • 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
Amygdala4.78 ± 0.66
Basal Forebrain4.93 ± 0.28
Basal Part of Pons5.37 ± 0.36
Cerebellar Cortex4.84 ± 0.32
Cerebellar Nuclei5.39 ± 0.41
Claustrum4.53 ± 0.94
Epithalamus4.76 ± 0.19
Frontal Lobe5.12 ± 0.45
Globus Pallidus5.47 ± 0.43
Hypothalamus4.88 ± 0.49
Insula4.88 ± 0.6
Limbic Lobe4.76 ± 0.51
Mesencephalon4.89 ± 0.46
Myelencephalon4.96 ± 0.52
Occipital Lobe4.64 ± 0.45
Parietal Lobe5.14 ± 0.44
Pontine Tegmentum4.9 ± 0.51
Striatum5.07 ± 0.42
Subthalamus5.19 ± 0.28
Temporal Lobe4.96 ± 0.38
Thalamus5.17 ± 0.4
White Matter4.41 ± 0.71
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ethe1CBCerebellum11.63
14.89
Ethe1CTXCerebral cortex26.79
19.09
Ethe1HIPHippocampal region10.86
10.53
Ethe1HPFHippocampal formation14.72
12.91
Ethe1HYHypothalamus16.7
12.95
Ethe1LSXLateral septal complex5.07
3.45
Ethe1MBMidbrain16.32
16.13
Ethe1MYMedulla31.51
42.02
Ethe1OLFOlfactory bulb24.67
17.94
Ethe1PPons27.83
34.53
Ethe1PALPallidum22.68
21.27
Ethe1RHPRetrohippocampal region21.88
16.73
Ethe1sAMYStriatum-like amygdalar nuclei19.11
12.94
Ethe1STRStriatum10.03
7.06
Ethe1STRdStriatum dorsal region8.61
6.22
Ethe1STRvStriatum ventral region13.28
8.68
Ethe1THThalamus17.88
14.89
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ETHE1_HUMAN_0 0 0 0 EAVLIDPVLETAPR PRIDE
ETHE1_HUMAN_0 0 0 0 SLLPGCQSVISR PRIDE
ETHE1_HUMAN_104 17 104 120 LSGAQADLHIEDGDSIR PRIDE
ETHE1_HUMAN_130 29 130 158 ASPGHTPGCVTFVLNDHSMAFTGDALLIR PRIDE
ETHE1_HUMAN_16 10 16 25 GGSGAPILLR PRIDE
ETHE1_HUMAN_181 28 181 208 IFTLPGDCLIYPAHDYHGFTVSTVEEER PRIDE
ETHE1_HUMAN_224 22 224 245 IMGNLNLPKPQQIDFAVPANMR PRIDE
ETHE1_HUMAN_26 20 26 45 QMFEPVSCTFTYLLGDRESR PRIDE
ETHE1_HUMAN_46 14 46 59 EAVLIDPVLETAPR PRIDE
ETHE1_HUMAN_60 11 60 70 DAQLIKELGLR PRIDE
ETHE1_HUMAN_71 21 71 91 LLYAVNTHCHADHITGSGLLR PRIDE
ETHE1_HUMAN_92 12 92 103 SLLPGCQSVISR PRIDE
PAp00003784 28 182 209 IFTLPGDCLIYPAHDYHGFTVSTVEEER 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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