AutismKB 2.0

Annotation Detail for EHHADH


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Basic Information Top
Gene Symbol:EHHADH ( ECHD,L-PBE,LBFP,LBP,MGC120586,PBFE )
Gene Full Name: enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Band: 3q27.2
Quick LinksEntrez ID:1962; OMIM: 607037; Uniprot ID:ECHP_HUMAN; ENSEMBL ID: ENSG00000113790; HGNC ID: 3247
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 body0 / 707610 
blastocyst0 / 623190 
fetus31 / 56401254
neonate1 / 3109732
infant1 / 2362042
juvenile2 / 5555635
adult42 / 193912121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor10 / 96359103
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal92 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain13 / 110098911
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine3 / 23447212
kidney16 / 21177775
larynx1 / 2414541
liver28 / 207743134
lung1 / 3369742
lymph0 / 442700 
lymph node2 / 9161021
mammary gland5 / 15327132
mouth5 / 6705274
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate7 / 18934536
salivary gland1 / 2015549
skin2 / 2105749
spleen1 / 5395218
stomach1 / 9661910
testis4 / 33044212
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea9 / 52413171
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205222_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.35
Adipocyte11.4
AdrenalCortex19.95
Adrenalgland11.6
Amygdala9.55
Appendix20.55
AtrioventricularNode22
BDCA4+_DentriticCells9.35
Bonemarrow16
BronchialEpithelialCells10.7
CD105+_Endothelial11.25
CD14+_Monocytes13.5
CD19+_BCells(neg._sel.)12.05
CD33+_Myeloid12.5
CD34+13.7
CD4+_Tcells10.95
CD56+_NKCells12.15
CD71+_EarlyErythroid11.85
CD8+_Tcells8.7
CardiacMyocytes30.85
Caudatenucleus10.55
Cerebellum9.6
CerebellumPeduncles18
CiliaryGanglion18.75
CingulateCortex14.1
Colorectaladenocarcinoma12
DorsalRootGanglion15.15
FetalThyroid14.45
Fetalbrain11.35
Fetalliver55
Fetallung8.9
GlobusPallidus11.5
Heart22.75
Hypothalamus12.15
Kidney27.55
Leukemia_chronicMyelogenousK-56210.65
Leukemia_promyelocytic-HL-6010.6
Leukemialymphoblastic(MOLT-4)7.9
Liver68.45
Lung12.35
Lymphnode9.05
Lymphoma_burkitts(Daudi)16.55
Lymphoma_burkitts(Raji)19.8
MedullaOblongata10.35
OccipitalLobe10.55
OlfactoryBulb8.55
Ovary13.2
Pancreas11.55
PancreaticIslet13.6
ParietalLobe15.1
Pituitary14.65
Placenta10.85
Pons12.95
PrefrontalCortex12.8
Prostate13.05
Salivarygland10.8
SkeletalMuscle29.45
Skin18.1
SmoothMuscle13.4
Spinalcord12.65
SubthalamicNucleus13.15
SuperiorCervicalGanglion29.1
TemporalLobe12
Testis9.5
TestisGermCell9.15
TestisIntersitial11.3
TestisLeydigCell14.25
TestisSeminiferousTubule10.3
Thalamus13.1
Thymus7.8
Thyroid14.05
Tongue19.7
Tonsil12.3
Trachea9.6
TrigeminalGanglion22.6
Uterus8.2
UterusCorpus16.4
WholeBlood12.85
Wholebrain8.5
colon13
pineal_day12.98
pineal_night12.86
retina14.45
small_intestine14.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13907_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
Amygdala2.23 ± 0.87
Basal Forebrain1.85 ± 0.46
Basal Part of Pons1.98 ± 0.8
Cerebellar Cortex1.67 ± 0.52
Cerebellar Nuclei2.47 ± 0.86
Claustrum2.41 ± 0.82
Epithalamus2.29 ± 0.53
Frontal Lobe1.92 ± 0.82
Globus Pallidus3.76 ± 0.53
Hypothalamus2.21 ± 0.37
Insula1.78 ± 0.52
Limbic Lobe1.93 ± 0.74
Mesencephalon2.55 ± 0.87
Myelencephalon2.15 ± 0.77
Occipital Lobe2.3 ± 0.71
Parietal Lobe2.19 ± 0.66
Pontine Tegmentum2.23 ± 0.84
Striatum2.49 ± 0.77
Subthalamus1.9 ± 0.78
Temporal Lobe2.06 ± 0.8
Thalamus2.45 ± 0.75
White Matter2.08 ± 0.76
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
EhhadhCBCerebellum0.45
0.71
EhhadhCTXCerebral cortex3.06
2.19
EhhadhHIPHippocampal region0.53
0.6
EhhadhHPFHippocampal formation3.05
2.87
EhhadhHYHypothalamus0.15
0.52
EhhadhLSXLateral septal complex0.05
0
EhhadhMBMidbrain0.28
0.36
EhhadhMYMedulla0.8
0.97
EhhadhOLFOlfactory bulb2.83
3.02
EhhadhPPons1.24
1.4
EhhadhPALPallidum0.04
0.02
EhhadhRHPRetrohippocampal region6.56
5.47
EhhadhsAMYStriatum-like amygdalar nuclei0.06
0.33
EhhadhSTRStriatum0.07
0.09
EhhadhSTRdStriatum dorsal region0.07
0.07
EhhadhSTRvStriatum ventral region0.08
0.06
EhhadhTHThalamus0.12
0.12
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001200 11 623 633 CLYSLINEAFR 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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