AutismKB 2.0

Annotation Detail for EPS8L2


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Basic Information Top
Gene Symbol:EPS8L2 ( EPS8R2,FLJ16738,FLJ21935,FLJ22171,MGC126530,MGC3088 )
Gene Full Name: EPS8-like 2
Band: 11p15.5
Quick LinksEntrez ID:64787; OMIM: NA; Uniprot ID:ES8L2_HUMAN; ENSEMBL ID: ENSG00000177106; HGNC ID: 21296
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 body7 / 7076198
blastocyst2 / 6231932
fetus13 / 56401223
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult106 / 193912154
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) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor16 / 114246140
esophageal tumor7 / 17290404
gastrointestinal tumor5 / 11936941
germ cell tumor8 / 26384530
glioma7 / 10688365
head and neck tumor12 / 13630288
kidney tumor14 / 68959203
leukemia1 / 9584210
liver tumor8 / 9635983
lung tumor8 / 10312777
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal192 / 336030757
ovarian tumor4 / 7668252
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer10 / 10268097
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder2 / 2975767
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain48 / 110098943
cervix3 / 4817162
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus7 / 20209346
eye18 / 21105485
heart2 / 8962622
intestine25 / 234472106
kidney37 / 211777174
larynx1 / 2414541
liver10 / 20774348
lung40 / 336974118
lymph0 / 442700 
lymph node0 / 916100 
mammary gland7 / 15327145
mouth11 / 67052164
muscle2 / 10771518
nerve2 / 15768126
ovary5 / 10205148
pancreas26 / 214812121
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta31 / 280825110
prostate14 / 18934573
salivary gland3 / 20155148
skin8 / 21057437
spleen0 / 539520 
stomach2 / 9661920
testis4 / 33044212
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea10 / 52413190
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218180_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.3
Adipocyte3.4
AdrenalCortex3.7
Adrenalgland2.9
Amygdala3.6
Appendix3.45
AtrioventricularNode2.75
BDCA4+_DentriticCells25.9
Bonemarrow3.4
BronchialEpithelialCells59.8
CD105+_Endothelial3.5
CD14+_Monocytes3.7
CD19+_BCells(neg._sel.)3.7
CD33+_Myeloid4.4
CD34+4.35
CD4+_Tcells3.8
CD56+_NKCells4.15
CD71+_EarlyErythroid3.2
CD8+_Tcells3.35
CardiacMyocytes4.3
Caudatenucleus3.05
Cerebellum6
CerebellumPeduncles4.3
CiliaryGanglion2.35
CingulateCortex3.5
Colorectaladenocarcinoma63
DorsalRootGanglion2.6
FetalThyroid8.25
Fetalbrain3.4
Fetalliver3.2
Fetallung7.6
GlobusPallidus2.5
Heart4.25
Hypothalamus4.5
Kidney53.85
Leukemia_chronicMyelogenousK-5623.1
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)2.8
Liver12.15
Lung56
Lymphnode2.95
Lymphoma_burkitts(Daudi)4.35
Lymphoma_burkitts(Raji)4.8
MedullaOblongata3.15
OccipitalLobe3.1
OlfactoryBulb2.7
Ovary2.25
Pancreas8.5
PancreaticIslet4.4
ParietalLobe3.6
Pituitary4.05
Placenta34.7
Pons3.25
PrefrontalCortex4.35
Prostate12.4
Salivarygland3.55
SkeletalMuscle3.85
Skin2.75
SmoothMuscle3.9
Spinalcord3.65
SubthalamicNucleus3.15
SuperiorCervicalGanglion3.85
TemporalLobe3.15
Testis2.95
TestisGermCell2.9
TestisIntersitial2.9
TestisLeydigCell3.35
TestisSeminiferousTubule2.95
Thalamus3.45
Thymus2.7
Thyroid18.6
Tongue14.35
Tonsil4.25
Trachea3.1
TrigeminalGanglion3.4
Uterus2.85
UterusCorpus3.05
WholeBlood3.75
Wholebrain2.95
colon4.55
pineal_day4.5
pineal_night4.26
retina4.15
small_intestine8.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8587_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
Amygdala4.05 ± 0.91
Basal Forebrain4.62 ± 0.57
Basal Part of Pons5.19 ± 0.49
Cerebellar Cortex5.32 ± 0.38
Cerebellar Nuclei5.01 ± 0.42
Claustrum5.22 ± 1.05
Epithalamus4.75 ± 0.23
Frontal Lobe4.25 ± 0.74
Globus Pallidus5.14 ± 0.88
Hypothalamus5.05 ± 0.48
Insula3.88 ± 0.53
Limbic Lobe4.22 ± 1.01
Mesencephalon4.77 ± 0.8
Myelencephalon4.55 ± 0.69
Occipital Lobe4.36 ± 0.82
Parietal Lobe4.47 ± 0.87
Pontine Tegmentum4.33 ± 0.88
Striatum4.15 ± 0.97
Subthalamus4.73 ± 0.16
Temporal Lobe4.3 ± 0.68
Thalamus4.86 ± 0.68
White Matter4.11 ± 0.78
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eps8l2CBCerebellum8.18
11.27
Eps8l2CTXCerebral cortex25.47
19.85
Eps8l2HIPHippocampal region18.47
20.64
Eps8l2HPFHippocampal formation18.62
18.84
Eps8l2HYHypothalamus14
11.95
Eps8l2LSXLateral septal complex26.34
20.61
Eps8l2MBMidbrain4.44
5.48
Eps8l2MYMedulla5.89
10.2
Eps8l2OLFOlfactory bulb23.95
20.97
Eps8l2PPons5.22
6.77
Eps8l2PALPallidum13.75
11.71
Eps8l2RHPRetrohippocampal region19.76
17.04
Eps8l2sAMYStriatum-like amygdalar nuclei17.8
13.83
Eps8l2STRStriatum14.73
10.96
Eps8l2STRdStriatum dorsal region12.78
9.39
Eps8l2STRvStriatum ventral region16.68
11.79
Eps8l2THThalamus28.99
30.32
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ES8L2_HUMAN_103 20 103 122 LLDIESQEELEDFPLPTVQR PRIDE
ES8L2_HUMAN_296 10 296 305 APAEGVLTLR PRIDE
ES8L2_HUMAN_333 32 333 364 HIQNPSAAELVHFLFGPLDLIVNTCSGPDIAR PRIDE
ES8L2_HUMAN_366 9 366 374 SVSCPLLSR PRIDE
ES8L2_HUMAN_375 7 375 381 DAVDFLR PRIDE
ES8L2_HUMAN_409 10 409 418 EPQVPLYVPK PRIDE
ES8L2_HUMAN_486 10 486 495 GYQPTPAMAK PRIDE
ES8L2_HUMAN_516 11 516 526 DEVLEVLEDGR PRIDE
ES8L2_HUMAN_575 9 575 583 LPPSFPGNK PRIDE
ES8L2_HUMAN_669 8 669 676 VCGEEGVR PRIDE
ES8L2_HUMAN_691 13 691 703 QQSGSELEELMNK PRIDE
ES8L2_HUMAN_87 16 87 102 IWTQEMLLQVNDQSLR PRIDE
PAp00027728 30 535 564 SGQAGYVPCNILGEARPEDAGAPFEQAGQK 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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