AutismKB 2.0

Annotation Detail for EGLN2


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Basic Information Top
Gene Symbol:EGLN2 ( DKFZp434E026,EIT6,HIFPH1,HPH-3,PHD1 )
Gene Full Name: egl nine homolog 2 (C. elegans)
Band: 19q13.2
Quick LinksEntrez ID:112398; OMIM: 606424; Uniprot ID:EGLN2_HUMAN; ENSEMBL ID: ENSG00000171570; HGNC ID: 14660
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
blastocyst7 / 62319112
fetus44 / 56401278
neonate10 / 31097321
infant8 / 23620338
juvenile15 / 55556269
adult214 / 1939121110
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) tumor20 / 94178212
cervical tumor3 / 3436687
chondrosarcoma6 / 8282372
colorectal tumor7 / 11424661
esophageal tumor2 / 17290115
gastrointestinal tumor17 / 119369142
germ cell tumor36 / 263845136
glioma16 / 106883149
head and neck tumor5 / 13630236
kidney tumor8 / 68959116
leukemia14 / 95842146
liver tumor2 / 9635920
lung tumor15 / 103127145
lymphoma4 / 7175555
non-neoplasia22 / 97250226
normal621 / 3360307184
ovarian tumor11 / 76682143
pancreatic tumor33 / 104616315
primitive neuroectodermal tumor of the CNS30 / 125680238
prostate cancer2 / 10268019
retinoblastoma4 / 4635686
skin tumor32 / 124949256
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland11 / 33197331
ascites10 / 40015249
bladder4 / 29757134
blood22 / 123478178
bone3 / 7165541
bone marrow6 / 48801122
brain236 / 1100989214
cervix5 / 48171103
connective tissue17 / 149255113
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus3 / 20209148
eye13 / 21105461
heart13 / 89626145
intestine39 / 234472166
kidney22 / 211777103
larynx0 / 241450 
liver8 / 20774338
lung49 / 336974145
lymph4 / 4427090
lymph node36 / 91610392
mammary gland33 / 153271215
mouth7 / 67052104
muscle12 / 107715111
nerve0 / 157680 
ovary16 / 102051156
pancreas37 / 214812172
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta52 / 280825185
prostate25 / 189345132
salivary gland1 / 2015549
skin42 / 210574199
spleen42 / 53952778
stomach13 / 96619134
testis101 / 330442305
thymus27 / 81131332
thyroid9 / 47473189
tonsil0 / 169990 
trachea10 / 52413190
umbilical cord2 / 13680146
uterus36 / 232878154
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220956_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts148.15
Adipocyte44.65
AdrenalCortex60.75
Adrenalgland59.65
Amygdala65.2
Appendix33.4
AtrioventricularNode18.1
BDCA4+_DentriticCells135.3
Bonemarrow69.55
BronchialEpithelialCells54.05
CD105+_Endothelial204.1
CD14+_Monocytes271.9
CD19+_BCells(neg._sel.)250.4
CD33+_Myeloid193.4
CD34+142.95
CD4+_Tcells221.15
CD56+_NKCells188.75
CD71+_EarlyErythroid111.1
CD8+_Tcells170.2
CardiacMyocytes63.75
Caudatenucleus73.8
Cerebellum75.85
CerebellumPeduncles133.9
CiliaryGanglion22.15
CingulateCortex72.35
Colorectaladenocarcinoma63.35
DorsalRootGanglion44.15
FetalThyroid70.4
Fetalbrain71.75
Fetalliver36.8
Fetallung91.15
GlobusPallidus55.35
Heart68.1
Hypothalamus82.25
Kidney26.3
Leukemia_chronicMyelogenousK-56265.1
Leukemia_promyelocytic-HL-6025.45
Leukemialymphoblastic(MOLT-4)74
Liver83.75
Lung132.95
Lymphnode68.55
Lymphoma_burkitts(Daudi)46.15
Lymphoma_burkitts(Raji)72.2
MedullaOblongata66.85
OccipitalLobe37.85
OlfactoryBulb78.95
Ovary30.5
Pancreas31.75
PancreaticIslet42.5
ParietalLobe59.75
Pituitary58.75
Placenta184.8
Pons73.8
PrefrontalCortex143.2
Prostate83.85
Salivarygland32
SkeletalMuscle28.1
Skin10.35
SmoothMuscle90
Spinalcord74.9
SubthalamicNucleus69.05
SuperiorCervicalGanglion30.6
TemporalLobe73.45
Testis335.7
TestisGermCell293.95
TestisIntersitial490.1
TestisLeydigCell225.5
TestisSeminiferousTubule334.15
Thalamus73.6
Thymus64.55
Thyroid111.25
Tongue46.45
Tonsil69.35
Trachea29.3
TrigeminalGanglion25.35
Uterus34.7
UterusCorpus28.9
WholeBlood221.25
Wholebrain93.85
colon27.65
pineal_day103.6
pineal_night93.02
retina59.975
small_intestine28.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11477_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
Amygdala5.48 ± 0.68
Basal Forebrain5.57 ± 0.37
Basal Part of Pons6.19 ± 0.52
Cerebellar Cortex6.12 ± 0.54
Cerebellar Nuclei5.31 ± 0.6
Claustrum5.23 ± 0.71
Epithalamus5.86 ± 0.48
Frontal Lobe6.03 ± 0.52
Globus Pallidus4.96 ± 0.21
Hypothalamus5.55 ± 0.56
Insula6.02 ± 0.33
Limbic Lobe5.72 ± 0.61
Mesencephalon5.64 ± 0.51
Myelencephalon5.82 ± 0.56
Occipital Lobe5.28 ± 0.62
Parietal Lobe5.74 ± 0.52
Pontine Tegmentum5.59 ± 0.66
Striatum5.33 ± 0.45
Subthalamus5.58 ± 0.09
Temporal Lobe6.02 ± 0.48
Thalamus5.74 ± 0.49
White Matter5.01 ± 0.64
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Egln2CBCerebellum23.56
35.82
Egln2CTXCerebral cortex21.98
19.36
Egln2HIPHippocampal region38.58
71.79
Egln2HPFHippocampal formation37.14
57.44
Egln2HYHypothalamus14.79
15.81
Egln2LSXLateral septal complex9.4
11.11
Egln2MBMidbrain4.1
6.55
Egln2MYMedulla8.35
16.07
Egln2OLFOlfactory bulb52.32
50.86
Egln2PPons12.65
21.23
Egln2PALPallidum16.35
19.92
Egln2RHPRetrohippocampal region35.01
36.88
Egln2sAMYStriatum-like amygdalar nuclei43.28
39.68
Egln2STRStriatum18.17
16.83
Egln2STRdStriatum dorsal region8.76
7.88
Egln2STRvStriatum ventral region40.56
35.6
Egln2THThalamus9.99
11.11
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EGLN2_HUMAN_139 8 139 146 QENQEAER PRIDE

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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