AutismKB 2.0

Annotation Detail for AES


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Basic Information Top
Gene Symbol:AES ( AES-1,AES-2,ESP1,GRG,GRG5,TLE5 )
Gene Full Name: amino-terminal enhancer of split
Band: 19p13.3
Quick LinksEntrez ID:166; OMIM: 600188; Uniprot ID:AES_HUMAN; ENSEMBL ID: ENSG00000104964; HGNC ID: 307
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
blastocyst9 / 62319144
fetus99 / 564012175
neonate0 / 310970 
infant4 / 23620169
juvenile12 / 55556215
adult411 / 1939121211
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor16 / 94178169
cervical tumor8 / 34366232
chondrosarcoma22 / 82823265
colorectal tumor15 / 114246131
esophageal tumor1 / 1729057
gastrointestinal tumor22 / 119369184
germ cell tumor16 / 26384560
glioma37 / 106883346
head and neck tumor19 / 136302139
kidney tumor7 / 68959101
leukemia9 / 9584293
liver tumor6 / 9635962
lung tumor32 / 103127310
lymphoma17 / 71755236
non-neoplasia14 / 97250143
normal538 / 3360307160
ovarian tumor19 / 76682247
pancreatic tumor50 / 104616477
primitive neuroectodermal tumor of the CNS31 / 125680246
prostate cancer31 / 102680301
retinoblastoma13 / 46356280
skin tumor29 / 124949232
soft tissue/muscle tissue tumor33 / 125191263
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites9 / 40015224
bladder7 / 29757235
blood26 / 123478210
bone23 / 71655320
bone marrow3 / 4880161
brain159 / 1100989144
cervix15 / 48171311
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus1 / 2020949
eye67 / 211054317
heart25 / 89626278
intestine37 / 234472157
kidney25 / 211777118
larynx5 / 24145207
liver13 / 20774362
lung89 / 336974264
lymph7 / 44270158
lymph node24 / 91610261
mammary gland23 / 153271150
mouth2 / 6705229
muscle29 / 107715269
nerve10 / 15768634
ovary22 / 102051215
pancreas58 / 214812270
parathyroid7 / 20539340
pharynx3 / 4132872
pituitary gland6 / 16585361
placenta44 / 280825156
prostate62 / 189345327
salivary gland6 / 20155297
skin47 / 210574223
spleen11 / 53952203
stomach21 / 96619217
testis7 / 33044221
thymus7 / 8113186
thyroid5 / 47473105
tonsil9 / 16999529
trachea0 / 524130 
umbilical cord0 / 136800 
uterus34 / 232878145
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217729_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts555.5
Adipocyte158.6
AdrenalCortex324.95
Adrenalgland131.75
Amygdala486
Appendix137.15
AtrioventricularNode65.7
BDCA4+_DentriticCells920.5
Bonemarrow65.8
BronchialEpithelialCells186.9
CD105+_Endothelial160.7
CD14+_Monocytes231.25
CD19+_BCells(neg._sel.)1483.45
CD33+_Myeloid264.8
CD34+373.25
CD4+_Tcells1670.75
CD56+_NKCells1687
CD71+_EarlyErythroid183.1
CD8+_Tcells1356.65
CardiacMyocytes278.85
Caudatenucleus208.95
Cerebellum325.7
CerebellumPeduncles661.7
CiliaryGanglion28.85
CingulateCortex335.2
Colorectaladenocarcinoma203.3
DorsalRootGanglion115.55
FetalThyroid289.5
Fetalbrain263.5
Fetalliver53.7
Fetallung209.2
GlobusPallidus203.85
Heart601.3
Hypothalamus172.6
Kidney125.5
Leukemia_chronicMyelogenousK-562231.1
Leukemia_promyelocytic-HL-60119.75
Leukemialymphoblastic(MOLT-4)298.7
Liver255.85
Lung486.2
Lymphnode253.05
Lymphoma_burkitts(Daudi)177.75
Lymphoma_burkitts(Raji)296.5
MedullaOblongata220.15
OccipitalLobe338.95
OlfactoryBulb193.25
Ovary96.1
Pancreas101.15
PancreaticIslet234.8
ParietalLobe252.1
Pituitary179.7
Placenta447.3
Pons215.5
PrefrontalCortex1214.55
Prostate611.65
Salivarygland112.55
SkeletalMuscle196.7
Skin53.55
SmoothMuscle333.35
Spinalcord207.15
SubthalamicNucleus335.95
SuperiorCervicalGanglion110.35
TemporalLobe388.1
Testis70.7
TestisGermCell123.55
TestisIntersitial79.7
TestisLeydigCell66.15
TestisSeminiferousTubule76.5
Thalamus334.9
Thymus392.75
Thyroid1488.8
Tongue124.55
Tonsil182.1
Trachea155.55
TrigeminalGanglion99.1
Uterus287.85
UterusCorpus127.25
WholeBlood325.6
Wholebrain654.5
colon266.7
pineal_day726.22
pineal_night774.96
retina487.3
small_intestine191.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P416728
  • 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
Amygdala8.12 ± 0.28
Basal Forebrain7.89 ± 0.22
Basal Part of Pons8.5 ± 0.3
Cerebellar Cortex8.34 ± 0.31
Cerebellar Nuclei7.92 ± 0.36
Claustrum8.62 ± 0.35
Epithalamus7.18 ± 0.45
Frontal Lobe8.07 ± 0.36
Globus Pallidus7.43 ± 0.2
Hypothalamus7.7 ± 0.41
Insula8.06 ± 0.31
Limbic Lobe8.05 ± 0.36
Mesencephalon7.85 ± 0.39
Myelencephalon7.98 ± 0.46
Occipital Lobe7.71 ± 0.33
Parietal Lobe8.07 ± 0.41
Pontine Tegmentum7.85 ± 0.31
Striatum7.57 ± 0.36
Subthalamus8.14 ± 0.28
Temporal Lobe8.09 ± 0.35
Thalamus8.08 ± 0.34
White Matter6.7 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AesCBCerebellum100
100
AesCTXCerebral cortex100
100
AesHIPHippocampal region100
100
AesHPFHippocampal formation100
100
AesHYHypothalamus100
100
AesLSXLateral septal complex100
100
AesMBMidbrain100
100
AesMYMedulla100
100
AesOLFOlfactory bulb100
100
AesPPons100
100
AesPALPallidum100
100
AesRHPRetrohippocampal region100
100
AessAMYStriatum-like amygdalar nuclei100
100
AesSTRStriatum100
100
AesSTRdStriatum dorsal region100
100
AesSTRvStriatum ventral region100
100
AesTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00026608 26 152 177 LNGICAQVLPYLSQEHQQQVLGAIER 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


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