AutismKB 2.0

Annotation Detail for EGLN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EGLN1 ( C1orf12,DKFZp761F179,ECYT3,HIFPH2,HPH2,PHD2,SM20,ZMYND6 )
Gene Full Name: egl nine homolog 1 (C. elegans)
Band: 1q42.2
Quick LinksEntrez ID:54583; OMIM: 606425; Uniprot ID:EGLN1_HUMAN; ENSEMBL ID: ENSG00000135766; HGNC ID: 1232
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 body4 / 7076156
blastocyst1 / 6231916
fetus32 / 56401256
neonate1 / 3109732
infant3 / 23620127
juvenile0 / 555560 
adult84 / 193912143
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor12 / 26384545
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia9 / 9584293
liver tumor3 / 9635931
lung tumor5 / 10312748
lymphoma4 / 7175555
non-neoplasia2 / 9725020
normal177 / 336030752
ovarian tumor7 / 7668291
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood6 / 12347848
bone3 / 7165541
bone marrow7 / 48801143
brain39 / 110098935
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine9 / 23447238
kidney18 / 21177784
larynx2 / 2414582
liver7 / 20774333
lung18 / 33697453
lymph1 / 4427022
lymph node9 / 9161098
mammary gland5 / 15327132
mouth4 / 6705259
muscle9 / 10771583
nerve0 / 157680 
ovary7 / 10205168
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta1 / 2808253
prostate11 / 18934558
salivary gland2 / 2015599
skin7 / 21057433
spleen0 / 539520 
stomach3 / 9661931
testis14 / 33044242
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus13 / 23287855
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221497_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.3
Adipocyte5.4
AdrenalCortex5.75
Adrenalgland5
Amygdala9
Appendix6.45
AtrioventricularNode4.75
BDCA4+_DentriticCells6.3
Bonemarrow5.45
BronchialEpithelialCells5.6
CD105+_Endothelial5.5
CD14+_Monocytes6.9
CD19+_BCells(neg._sel.)6.1
CD33+_Myeloid11.45
CD34+6.85
CD4+_Tcells6.5
CD56+_NKCells7.4
CD71+_EarlyErythroid5.1
CD8+_Tcells5.4
CardiacMyocytes9.5
Caudatenucleus5.05
Cerebellum4.55
CerebellumPeduncles6.65
CiliaryGanglion4.5
CingulateCortex5.9
Colorectaladenocarcinoma5.5
DorsalRootGanglion4.45
FetalThyroid5.4
Fetalbrain5.45
Fetalliver4.95
Fetallung4.45
GlobusPallidus4.1
Heart7.75
Hypothalamus5.8
Kidney4.65
Leukemia_chronicMyelogenousK-5624.8
Leukemia_promyelocytic-HL-604.8
Leukemialymphoblastic(MOLT-4)4.2
Liver7.8
Lung6
Lymphnode4.55
Lymphoma_burkitts(Daudi)7.05
Lymphoma_burkitts(Raji)8.45
MedullaOblongata5.1
OccipitalLobe5
OlfactoryBulb4.35
Ovary3.95
Pancreas4.35
PancreaticIslet6.45
ParietalLobe5.9
Pituitary6.35
Placenta5.75
Pons5.25
PrefrontalCortex6.7
Prostate6.4
Salivarygland4.45
SkeletalMuscle7
Skin4.8
SmoothMuscle13.25
Spinalcord5.85
SubthalamicNucleus5.1
SuperiorCervicalGanglion7.3
TemporalLobe5.45
Testis4.6
TestisGermCell4.9
TestisIntersitial4.65
TestisLeydigCell5.35
TestisSeminiferousTubule5
Thalamus5.65
Thymus4.45
Thyroid6.9
Tongue5.6
Tonsil5.45
Trachea4.5
TrigeminalGanglion5.95
Uterus5.35
UterusCorpus4.95
WholeBlood56.15
Wholebrain4.55
colon12
pineal_day6.68
pineal_night6.86
retina7.125
small_intestine9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P34710
  • 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
Amygdala8.98 ± 0.16
Basal Forebrain8.96 ± 0.09
Basal Part of Pons8.55 ± 0.12
Cerebellar Cortex8.79 ± 0.12
Cerebellar Nuclei8.64 ± 0.07
Claustrum8.75 ± 0.15
Epithalamus8.71 ± 0.22
Frontal Lobe8.86 ± 0.19
Globus Pallidus9.35 ± 0.17
Hypothalamus8.92 ± 0.19
Insula8.9 ± 0.11
Limbic Lobe9.05 ± 0.21
Mesencephalon9 ± 0.17
Myelencephalon8.92 ± 0.21
Occipital Lobe9.01 ± 0.18
Parietal Lobe8.88 ± 0.21
Pontine Tegmentum8.97 ± 0.21
Striatum9.17 ± 0.13
Subthalamus8.78 ± 0.21
Temporal Lobe8.93 ± 0.17
Thalamus8.88 ± 0.16
White Matter9.31 ± 0.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Egln1CBCerebellum7.76
7.98
Egln1CTXCerebral cortex32.91
30.25
Egln1HIPHippocampal region25.46
33.45
Egln1HPFHippocampal formation18.52
21.65
Egln1HYHypothalamus1.53
1.1
Egln1LSXLateral septal complex2.85
2.11
Egln1MBMidbrain2.03
1.9
Egln1MYMedulla5.14
5.6
Egln1OLFOlfactory bulb14.04
11.12
Egln1PPons2.94
3.34
Egln1PALPallidum2.57
2.43
Egln1RHPRetrohippocampal region5.82
4.31
Egln1sAMYStriatum-like amygdalar nuclei2.75
1.96
Egln1STRStriatum11.74
9.04
Egln1STRdStriatum dorsal region11.9
9.01
Egln1STRvStriatum ventral region18.86
14.76
Egln1THThalamus4.92
4.37
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EGLN1_HUMAN_2 15 2 16 ANDSGGPGGPSPSER PRIDE
PAp00025682 12 205 216 HGICVVDDFLGK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved