AutismKB 2.0

Annotation Detail for ECHDC3


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Basic Information Top
Gene Symbol:ECHDC3 ( FLJ20909 )
Gene Full Name: enoyl CoA hydratase domain containing 3
Band: 10p14
Quick LinksEntrez ID:79746; OMIM: NA; Uniprot ID:ECHD3_HUMAN; ENSEMBL ID: ENSG00000134463; HGNC ID: 23489
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 
blastocyst1 / 6231916
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult49 / 193912125
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor5 / 9635951
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal58 / 336030717
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain9 / 11009898
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus1 / 2020949
eye2 / 2110549
heart2 / 8962622
intestine1 / 2344724
kidney5 / 21177723
larynx0 / 241450 
liver9 / 20774343
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta10 / 28082535
prostate3 / 18934515
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis5 / 33044215
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219298_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.95
Adipocyte5.6
AdrenalCortex5.4
Adrenalgland8.85
Amygdala5.55
Appendix5.2
AtrioventricularNode4
BDCA4+_DentriticCells5.85
Bonemarrow5.15
BronchialEpithelialCells4.9
CD105+_Endothelial5.15
CD14+_Monocytes5.85
CD19+_BCells(neg._sel.)5.55
CD33+_Myeloid6.7
CD34+6.4
CD4+_Tcells5.55
CD56+_NKCells6
CD71+_EarlyErythroid4.85
CD8+_Tcells4.9
CardiacMyocytes6.5
Caudatenucleus4.65
Cerebellum4.2
CerebellumPeduncles5.85
CiliaryGanglion3.55
CingulateCortex5.25
Colorectaladenocarcinoma5.15
DorsalRootGanglion3.9
FetalThyroid6.75
Fetalbrain5.15
Fetalliver5.2
Fetallung5.2
GlobusPallidus3.7
Heart86.2
Hypothalamus5.7
Kidney163.1
Leukemia_chronicMyelogenousK-5625.35
Leukemia_promyelocytic-HL-604.55
Leukemialymphoblastic(MOLT-4)4.15
Liver269.25
Lung39.7
Lymphnode4.45
Lymphoma_burkitts(Daudi)6.55
Lymphoma_burkitts(Raji)7.15
MedullaOblongata4.75
OccipitalLobe4.65
OlfactoryBulb4.05
Ovary3.45
Pancreas4.15
PancreaticIslet5.6
ParietalLobe5.4
Pituitary6.05
Placenta5.45
Pons4.9
PrefrontalCortex6.5
Prostate13.95
Salivarygland4.1
SkeletalMuscle8.15
Skin4
SmoothMuscle5.9
Spinalcord5.55
SubthalamicNucleus4.6
SuperiorCervicalGanglion5.95
TemporalLobe4.7
Testis4.9
TestisGermCell4.45
TestisIntersitial4.4
TestisLeydigCell5.1
TestisSeminiferousTubule4.55
Thalamus5.25
Thymus4.1
Thyroid39.15
Tongue5.1
Tonsil5.05
Trachea4.35
TrigeminalGanglion5.45
Uterus4.3
UterusCorpus4.6
WholeBlood5.75
Wholebrain4.45
colon5.2
pineal_day6.52
pineal_night6.38
retina9.4
small_intestine5.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P343621
  • 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
Amygdala4.08 ± 0.68
Basal Forebrain3.94 ± 0.31
Basal Part of Pons4.16 ± 0.61
Cerebellar Cortex3.71 ± 0.68
Cerebellar Nuclei4.05 ± 0.92
Claustrum4.05 ± 0.82
Epithalamus3.62 ± 0.69
Frontal Lobe3.76 ± 0.79
Globus Pallidus4.05 ± 0.69
Hypothalamus3.49 ± 0.9
Insula4.1 ± 0.63
Limbic Lobe3.97 ± 0.83
Mesencephalon3.67 ± 0.9
Myelencephalon3.84 ± 0.83
Occipital Lobe3.59 ± 0.75
Parietal Lobe3.66 ± 0.7
Pontine Tegmentum3.68 ± 0.69
Striatum3.95 ± 0.74
Subthalamus2.47 ± 1.16
Temporal Lobe3.81 ± 0.83
Thalamus3.84 ± 0.78
White Matter4.69 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Echdc3CBCerebellum0.23
0.74
Echdc3CTXCerebral cortex0.38
1.16
Echdc3HIPHippocampal region0.08
0.24
Echdc3HPFHippocampal formation0.08
0.21
Echdc3HYHypothalamus0.24
0.86
Echdc3LSXLateral septal complex0.06
0.11
Echdc3MBMidbrain0.2
0.53
Echdc3MYMedulla0.28
0.64
Echdc3OLFOlfactory bulb0.63
1.97
Echdc3PPons0.85
2.09
Echdc3PALPallidum0.51
0.65
Echdc3RHPRetrohippocampal region0.07
0.18
Echdc3sAMYStriatum-like amygdalar nuclei0.11
0.18
Echdc3STRStriatum0.35
0.35
Echdc3STRdStriatum dorsal region0.19
0.25
Echdc3STRvStriatum ventral region1.26
0.94
Echdc3THThalamus0.06
0.15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009879 12 119 130 DYHAEVFQTCSK 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