AutismKB 2.0

Annotation Detail for AEN


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Basic Information Top
Gene Symbol:AEN ( FLJ12484,FLJ12562,ISG20L1,pp12744 )
Gene Full Name: apoptosis enhancing nuclease
Band: 15q26.1
Quick LinksEntrez ID:64782; OMIM: 610177; Uniprot ID:AEN_HUMAN; ENSEMBL ID: ENSG00000181026; HGNC ID: 25722
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 body6 / 7076184
blastocyst16 / 62319256
fetus26 / 56401246
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult78 / 193912140
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) tumor4 / 9417842
cervical tumor6 / 34366174
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor20 / 26384575
glioma6 / 10688356
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor4 / 9635941
lung tumor2 / 10312719
lymphoma8 / 71755111
non-neoplasia3 / 9725030
normal121 / 336030736
ovarian tumor2 / 7668226
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer2 / 10268019
retinoblastoma10 / 46356215
skin tumor30 / 124949240
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood5 / 12347840
bone3 / 7165541
bone marrow2 / 4880140
brain40 / 110098936
cervix12 / 48171249
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue26 / 215722120
esophagus0 / 202090 
eye14 / 21105466
heart3 / 8962633
intestine16 / 23447268
kidney2 / 2117779
larynx0 / 241450 
liver4 / 20774319
lung24 / 33697471
lymph4 / 4427090
lymph node4 / 9161043
mammary gland7 / 15327145
mouth0 / 670520 
muscle7 / 10771564
nerve0 / 157680 
ovary2 / 10205119
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate2 / 18934510
salivary gland0 / 201550 
skin34 / 210574161
spleen2 / 5395237
stomach2 / 9661920
testis20 / 33044260
thymus0 / 811310 
thyroid3 / 4747363
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord0 / 136800 
uterus12 / 23287851
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219361_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts42.3
Adipocyte16.25
AdrenalCortex16.3
Adrenalgland13.85
Amygdala12.8
Appendix13.95
AtrioventricularNode12.55
BDCA4+_DentriticCells19.85
Bonemarrow16.95
BronchialEpithelialCells15.65
CD105+_Endothelial111.7
CD14+_Monocytes16.75
CD19+_BCells(neg._sel.)24.9
CD33+_Myeloid21.25
CD34+34.95
CD4+_Tcells33.15
CD56+_NKCells18.9
CD71+_EarlyErythroid71.65
CD8+_Tcells17.3
CardiacMyocytes20.4
Caudatenucleus14
Cerebellum12.6
CerebellumPeduncles17.7
CiliaryGanglion11.05
CingulateCortex16.05
Colorectaladenocarcinoma16.5
DorsalRootGanglion12.25
FetalThyroid15.8
Fetalbrain15.5
Fetalliver13.6
Fetallung11.65
GlobusPallidus13.55
Heart19.1
Hypothalamus16.15
Kidney12.5
Leukemia_chronicMyelogenousK-56217.95
Leukemia_promyelocytic-HL-6021.45
Leukemialymphoblastic(MOLT-4)22.55
Liver18.55
Lung14.95
Lymphnode13.65
Lymphoma_burkitts(Daudi)39.65
Lymphoma_burkitts(Raji)21.4
MedullaOblongata14.25
OccipitalLobe16.2
OlfactoryBulb12.25
Ovary9.05
Pancreas13.3
PancreaticIslet16.75
ParietalLobe24
Pituitary23.2
Placenta17
Pons22.2
PrefrontalCortex16.95
Prostate18.55
Salivarygland13.25
SkeletalMuscle17.25
Skin11.85
SmoothMuscle18.1
Spinalcord16.75
SubthalamicNucleus15.8
SuperiorCervicalGanglion17.35
TemporalLobe14.3
Testis19.55
TestisGermCell14.1
TestisIntersitial13.65
TestisLeydigCell16.45
TestisSeminiferousTubule19.35
Thalamus17.25
Thymus12.2
Thyroid19.75
Tongue14.7
Tonsil15.3
Trachea13
TrigeminalGanglion15.55
Uterus12.55
UterusCorpus10.55
WholeBlood13.4
Wholebrain9.1
colon15.75
pineal_day21
pineal_night21.18
retina19.15
small_intestine14.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P206077
  • 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
Amygdala2.15 ± 0.87
Basal Forebrain1.6 ± 0.24
Basal Part of Pons1.73 ± 0.59
Cerebellar Cortex1.77 ± 0.77
Cerebellar Nuclei2.01 ± 0.7
Claustrum2.61 ± 0.85
Epithalamus1.69 ± 0.54
Frontal Lobe1.78 ± 0.59
Globus Pallidus2.2 ± 0.19
Hypothalamus2.06 ± 0.83
Insula1.9 ± 0.37
Limbic Lobe1.77 ± 0.57
Mesencephalon1.96 ± 0.65
Myelencephalon1.87 ± 0.57
Occipital Lobe1.62 ± 0.59
Parietal Lobe1.82 ± 0.77
Pontine Tegmentum1.83 ± 0.69
Striatum1.84 ± 0.56
Subthalamus2.04 ± 0.5
Temporal Lobe1.79 ± 0.66
Thalamus1.89 ± 0.62
White Matter2.12 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Isg20l1CBCerebellum19.58
25.09
Isg20l1CTXCerebral cortex20.35
15.62
Isg20l1HIPHippocampal region15.22
15.35
Isg20l1HPFHippocampal formation16
14.71
Isg20l1HYHypothalamus7.89
6.72
Isg20l1LSXLateral septal complex1.81
1.33
Isg20l1MBMidbrain11.67
11.48
Isg20l1MYMedulla22.67
25.73
Isg20l1OLFOlfactory bulb23.18
19.3
Isg20l1PPons15.08
17.07
Isg20l1PALPallidum7.62
7.41
Isg20l1RHPRetrohippocampal region17.86
14.24
Isg20l1sAMYStriatum-like amygdalar nuclei12.16
8.94
Isg20l1STRStriatum6.44
5.03
Isg20l1STRdStriatum dorsal region6
5
Isg20l1STRvStriatum ventral region6.99
4.68
Isg20l1THThalamus16.23
13.44
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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