AutismKB 2.0

Annotation Detail for ECE2


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Basic Information Top
Gene Symbol:ECE2 ( KIAA0604,MGC17664,MGC2408,MGC78487 )
Gene Full Name: endothelin converting enzyme 2
Band: 3q27.1
Quick LinksEntrez ID:9718; OMIM: 610145; Uniprot ID:ECE2_HUMAN; ENSEMBL ID: ENSG00000145194; HGNC ID: 13275
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 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult36 / 193912118
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 tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor14 / 103127135
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal49 / 336030714
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain34 / 110098930
cervix5 / 48171103
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine2 / 2344728
kidney1 / 2117774
larynx1 / 2414541
liver2 / 2077439
lung17 / 33697450
lymph2 / 4427045
lymph node2 / 9161021
mammary gland4 / 15327126
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach1 / 9661910
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206728_at
Cell line Expression level Expression bar
721_B_lymphoblasts3.9
Adipocyte3.05
AdrenalCortex3.2
Adrenalgland2.6
Amygdala3.35
Appendix3.1
AtrioventricularNode3.25
BDCA4+_DentriticCells3.35
Bonemarrow3.05
BronchialEpithelialCells3.1
CD105+_Endothelial3.15
CD14+_Monocytes3.3
CD19+_BCells(neg._sel.)3.3
CD33+_Myeloid4.05
CD34+4
CD4+_Tcells3.35
CD56+_NKCells3.8
CD71+_EarlyErythroid2.9
CD8+_Tcells2.95
CardiacMyocytes3.85
Caudatenucleus2.8
Cerebellum2.5
CerebellumPeduncles3.6
CiliaryGanglion2.3
CingulateCortex4.65
Colorectaladenocarcinoma3.15
DorsalRootGanglion3.2
FetalThyroid3.05
Fetalbrain3.15
Fetalliver2.65
Fetallung2.5
GlobusPallidus3.7
Heart3.85
Hypothalamus4.5
Kidney2.5
Leukemia_chronicMyelogenousK-5622.8
Leukemia_promyelocytic-HL-602.7
Leukemialymphoblastic(MOLT-4)2.5
Liver4.05
Lung3.4
Lymphnode2.7
Lymphoma_burkitts(Daudi)3.95
Lymphoma_burkitts(Raji)4.3
MedullaOblongata2.9
OccipitalLobe2.8
OlfactoryBulb2.45
Ovary2.1
Pancreas2.5
PancreaticIslet3.35
ParietalLobe3.25
Pituitary3.65
Placenta3.25
Pons3.25
PrefrontalCortex3.95
Prostate3.7
Salivarygland2.55
SkeletalMuscle3.45
Skin3.5
SmoothMuscle3.5
Spinalcord3.3
SubthalamicNucleus2.8
SuperiorCervicalGanglion3.65
TemporalLobe2.8
Testis2.7
TestisGermCell2.55
TestisIntersitial2.6
TestisLeydigCell3.05
TestisSeminiferousTubule2.7
Thalamus3.75
Thymus2.5
Thyroid3.95
Tongue3.1
Tonsil3.05
Trachea2.6
TrigeminalGanglion3.5
Uterus2.55
UterusCorpus2.9
WholeBlood3.4
Wholebrain2.75
colon3.15
pineal_day3.88
pineal_night3.8
retina3.75
small_intestine3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11190_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
Amygdala2.67 ± 1.06
Basal Forebrain2.19 ± 0.23
Basal Part of Pons1.99 ± 0.61
Cerebellar Cortex2.21 ± 0.86
Cerebellar Nuclei2.77 ± 0.91
Claustrum3.08 ± 0.81
Epithalamus2.06 ± 1.18
Frontal Lobe2.36 ± 0.78
Globus Pallidus2.43 ± 0.59
Hypothalamus2.32 ± 0.83
Insula1.99 ± 0.72
Limbic Lobe2.33 ± 0.64
Mesencephalon2.31 ± 0.68
Myelencephalon2.36 ± 0.71
Occipital Lobe2.13 ± 0.75
Parietal Lobe2.23 ± 0.8
Pontine Tegmentum2.52 ± 0.92
Striatum2.33 ± 0.64
Subthalamus2.33 ± 0.64
Temporal Lobe2.42 ± 0.81
Thalamus2.33 ± 0.78
White Matter1.98 ± 0.33
Mouse Brain ISH
Peptide Top

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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