AutismKB 2.0

Annotation Detail for EDIL3


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Basic Information Top
Gene Symbol:EDIL3 ( DEL1,MGC26287 )
Gene Full Name: EGF-like repeats and discoidin I-like domains 3
Band: 5q14.3
Quick LinksEntrez ID:10085; OMIM: 606018; Uniprot ID:EDIL3_HUMAN; ENSEMBL ID: ENSG00000164176; HGNC ID: 3173
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 body7 / 7076198
blastocyst4 / 6231964
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult118 / 193912160
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma6 / 10688356
head and neck tumor7 / 13630251
kidney tumor6 / 6895987
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia15 / 97250154
normal205 / 336030761
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer11 / 102680107
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone5 / 7165569
bone marrow2 / 4880140
brain214 / 1100989194
cervix1 / 4817120
connective tissue21 / 149255140
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus1 / 2020949
eye12 / 21105456
heart1 / 8962611
intestine8 / 23447234
kidney14 / 21177766
larynx5 / 24145207
liver2 / 2077439
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary2 / 10205119
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate17 / 18934589
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis7 / 33044221
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus7 / 23287830
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207379_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.1
Adipocyte5.2
AdrenalCortex5.65
Adrenalgland4.5
Amygdala5.95
Appendix6.45
AtrioventricularNode4.8
BDCA4+_DentriticCells5.7
Bonemarrow5.25
BronchialEpithelialCells5.2
CD105+_Endothelial5.25
CD14+_Monocytes5.6
CD19+_BCells(neg._sel.)5.6
CD33+_Myeloid6.75
CD34+6.35
CD4+_Tcells5.45
CD56+_NKCells5.95
CD71+_EarlyErythroid4.95
CD8+_Tcells4.85
CardiacMyocytes20
Caudatenucleus5
Cerebellum4.3
CerebellumPeduncles6.1
CiliaryGanglion3.85
CingulateCortex8.25
Colorectaladenocarcinoma5.25
DorsalRootGanglion4.5
FetalThyroid5.1
Fetalbrain5.25
Fetalliver4.6
Fetallung4.25
GlobusPallidus4.35
Heart7.05
Hypothalamus7.45
Kidney4.3
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-604.65
Leukemialymphoblastic(MOLT-4)4.25
Liver7.05
Lung5.75
Lymphnode4.5
Lymphoma_burkitts(Daudi)6.75
Lymphoma_burkitts(Raji)7.55
MedullaOblongata15.05
OccipitalLobe22.2
OlfactoryBulb4.15
Ovary3.55
Pancreas4.25
PancreaticIslet8.2
ParietalLobe8.8
Pituitary6.15
Placenta5.4
Pons6.25
PrefrontalCortex13.15
Prostate6.1
Salivarygland4.3
SkeletalMuscle6.45
Skin4.75
SmoothMuscle20.75
Spinalcord5.65
SubthalamicNucleus5.7
SuperiorCervicalGanglion7.35
TemporalLobe5.6
Testis4.5
TestisGermCell4.35
TestisIntersitial4.5
TestisLeydigCell5.4
TestisSeminiferousTubule4.55
Thalamus5.4
Thymus4.05
Thyroid6.5
Tongue5.25
Tonsil5.1
Trachea4.45
TrigeminalGanglion6.85
Uterus4.3
UterusCorpus5.25
WholeBlood5.7
Wholebrain5.65
colon5.3
pineal_day6.4
pineal_night6.34
retina10.075
small_intestine5.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4776_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
Amygdala10.62 ± 0.4
Basal Forebrain10.92 ± 0.4
Basal Part of Pons10.77 ± 0.54
Cerebellar Cortex10.37 ± 0.26
Cerebellar Nuclei11.46 ± 0.47
Claustrum10.49 ± 0.49
Epithalamus9.98 ± 1.08
Frontal Lobe10.7 ± 0.62
Globus Pallidus12.29 ± 0.41
Hypothalamus10.43 ± 0.72
Insula10.55 ± 0.35
Limbic Lobe10.94 ± 0.65
Mesencephalon10.86 ± 0.7
Myelencephalon10.9 ± 0.68
Occipital Lobe11.33 ± 0.49
Parietal Lobe10.91 ± 0.6
Pontine Tegmentum11.18 ± 0.31
Striatum11.18 ± 0.61
Subthalamus11.4 ± 0.7
Temporal Lobe10.87 ± 0.41
Thalamus10.93 ± 0.46
White Matter13.49 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Edil3CBCerebellum3.7
3.29
Edil3CTXCerebral cortex1.39
1.08
Edil3HIPHippocampal region1.14
1.23
Edil3HPFHippocampal formation1.15
1.18
Edil3HYHypothalamus0.83
0.28
Edil3LSXLateral septal complex0.56
0.31
Edil3MBMidbrain2.77
2.02
Edil3MYMedulla6.29
5.04
Edil3OLFOlfactory bulb1.66
1.88
Edil3PPons3.17
3.13
Edil3PALPallidum2.08
1.56
Edil3RHPRetrohippocampal region0.98
0.97
Edil3sAMYStriatum-like amygdalar nuclei0.51
0.31
Edil3STRStriatum0.74
0.5
Edil3STRdStriatum dorsal region0.84
0.58
Edil3STRvStriatum ventral region0.56
0.43
Edil3THThalamus5.2
2.57
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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