AutismKB 2.0

Annotation Detail for EGLN3


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Basic Information Top
Gene Symbol:EGLN3 ( FLJ21620,HIFPH3,MGC125998,MGC125999,PHD3 )
Gene Full Name: egl nine homolog 3 (C. elegans)
Band: 14q13.1
Quick LinksEntrez ID:112399; OMIM: 606426; Uniprot ID:EGLN3_HUMAN; ENSEMBL ID: ENSG00000129521; HGNC ID: 14661
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 
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult71 / 193912136
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor5 / 26384518
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal140 / 336030741
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain28 / 110098925
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine8 / 23447234
kidney6 / 21177728
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary7 / 10205168
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta30 / 280825106
prostate2 / 18934510
salivary gland0 / 201550 
skin44 / 210574208
spleen0 / 539520 
stomach2 / 9661920
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219232_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.25
Adipocyte6.5
AdrenalCortex9.55
Adrenalgland6
Amygdala6.6
Appendix10.9
AtrioventricularNode7.85
BDCA4+_DentriticCells8.35
Bonemarrow7.35
BronchialEpithelialCells6.3
CD105+_Endothelial6.45
CD14+_Monocytes7.1
CD19+_BCells(neg._sel.)6.65
CD33+_Myeloid7.9
CD34+7.75
CD4+_Tcells6.5
CD56+_NKCells7.35
CD71+_EarlyErythroid6.45
CD8+_Tcells5.75
CardiacMyocytes8.85
Caudatenucleus6.05
Cerebellum5.5
CerebellumPeduncles8.15
CiliaryGanglion8.55
CingulateCortex7.7
Colorectaladenocarcinoma6.6
DorsalRootGanglion7.45
FetalThyroid6.75
Fetalbrain6.3
Fetalliver6
Fetallung5.6
GlobusPallidus5.4
Heart10.3
Hypothalamus6.9
Kidney6.3
Leukemia_chronicMyelogenousK-5625.9
Leukemia_promyelocytic-HL-605.95
Leukemialymphoblastic(MOLT-4)4.95
Liver11.35
Lung7.25
Lymphnode5.55
Lymphoma_burkitts(Daudi)8.85
Lymphoma_burkitts(Raji)10.25
MedullaOblongata6.05
OccipitalLobe6.1
OlfactoryBulb5.25
Ovary6.9
Pancreas5.55
PancreaticIslet7.1
ParietalLobe7.7
Pituitary7.75
Placenta7.95
Pons6.7
PrefrontalCortex8.35
Prostate7.4
Salivarygland5.8
SkeletalMuscle12.35
Skin9.15
SmoothMuscle7.4
Spinalcord7.1
SubthalamicNucleus6.8
SuperiorCervicalGanglion12
TemporalLobe6.5
Testis5.65
TestisGermCell5.45
TestisIntersitial5.7
TestisLeydigCell7.05
TestisSeminiferousTubule5.65
Thalamus6.95
Thymus5.2
Thyroid7.9
Tongue7.85
Tonsil6.8
Trachea5.7
TrigeminalGanglion11.2
Uterus5.15
UterusCorpus6.9
WholeBlood7.1
Wholebrain5.5
colon7.65
pineal_day7.98
pineal_night7.9
retina8.025
small_intestine8.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9381_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
Amygdala6.91 ± 0.42
Basal Forebrain7.04 ± 0.26
Basal Part of Pons6.67 ± 0.25
Cerebellar Cortex6.29 ± 0.25
Cerebellar Nuclei7.24 ± 0.38
Claustrum6.51 ± 0.43
Epithalamus7 ± 0.32
Frontal Lobe6.68 ± 0.45
Globus Pallidus8.24 ± 0.38
Hypothalamus6.77 ± 0.32
Insula6.54 ± 0.33
Limbic Lobe6.51 ± 0.78
Mesencephalon6.93 ± 0.41
Myelencephalon6.89 ± 0.37
Occipital Lobe7.08 ± 0.39
Parietal Lobe6.79 ± 0.39
Pontine Tegmentum6.94 ± 0.36
Striatum7.14 ± 0.46
Subthalamus6.8 ± 0.24
Temporal Lobe6.58 ± 0.49
Thalamus7.17 ± 0.27
White Matter8.48 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Egln3CBCerebellum0.12
0.23
Egln3CTXCerebral cortex0.15
0.26
Egln3HIPHippocampal region0.79
1.47
Egln3HPFHippocampal formation0.5
1.28
Egln3HYHypothalamus0.02
0.01
Egln3LSXLateral septal complex0
0
Egln3MBMidbrain0.1
0.16
Egln3MYMedulla0.03
0.1
Egln3OLFOlfactory bulb0.67
1.59
Egln3PPons0.02
0.06
Egln3PALPallidum0.07
0.03
Egln3RHPRetrohippocampal region0.13
0.97
Egln3sAMYStriatum-like amygdalar nuclei0.03
0
Egln3STRStriatum0.14
0.1
Egln3STRdStriatum dorsal region0.19
0.15
Egln3STRvStriatum ventral region0.06
0.02
Egln3THThalamus0.03
0.02
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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