AutismKB 2.0

Annotation Detail for EPN3


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Basic Information Top
Gene Symbol:EPN3 ( FLJ20778,MGC129899 )
Gene Full Name: epsin 3
Band: 17q21.33
Quick LinksEntrez ID:55040; OMIM: 607264; Uniprot ID:EPN3_HUMAN; ENSEMBL ID: ENSG00000049283; HGNC ID: 18235
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 body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult24 / 193912112
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) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor3 / 11936925
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor37 / 136302271
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal86 / 336030725
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites1 / 4001524
bladder3 / 29757100
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain22 / 110098919
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus3 / 20209148
eye2 / 2110549
heart2 / 8962622
intestine9 / 23447238
kidney10 / 21177747
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node2 / 9161021
mammary gland8 / 15327152
mouth38 / 67052566
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta15 / 28082553
prostate29 / 189345153
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach2 / 9661920
testis6 / 33044218
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea10 / 52413190
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220318_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.75
Adipocyte3.7
AdrenalCortex4.05
Adrenalgland3.2
Amygdala3.9
Appendix3.8
AtrioventricularNode2.9
BDCA4+_DentriticCells4.15
Bonemarrow3.7
BronchialEpithelialCells3.75
CD105+_Endothelial3.8
CD14+_Monocytes4
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid4.85
CD34+4.8
CD4+_Tcells4.1
CD56+_NKCells4.5
CD71+_EarlyErythroid3.55
CD8+_Tcells3.6
CardiacMyocytes4.65
Caudatenucleus3.4
Cerebellum3.05
CerebellumPeduncles4.3
CiliaryGanglion2.75
CingulateCortex4.55
Colorectaladenocarcinoma3.75
DorsalRootGanglion2.95
FetalThyroid3.65
Fetalbrain3.8
Fetalliver3.25
Fetallung3.05
GlobusPallidus3.25
Heart4.8
Hypothalamus4.1
Kidney3.05
Leukemia_chronicMyelogenousK-5623.35
Leukemia_promyelocytic-HL-603.3
Leukemialymphoblastic(MOLT-4)3
Liver4.95
Lung4.1
Lymphnode3.25
Lymphoma_burkitts(Daudi)4.8
Lymphoma_burkitts(Raji)5.2
MedullaOblongata3.45
OccipitalLobe3.35
OlfactoryBulb3.8
Ovary2.45
Pancreas3.05
PancreaticIslet4.05
ParietalLobe4
Pituitary4.4
Placenta4
Pons3.6
PrefrontalCortex4.7
Prostate4.5
Salivarygland3
SkeletalMuscle4.4
Skin3.1
SmoothMuscle4.25
Spinalcord4
SubthalamicNucleus3.45
SuperiorCervicalGanglion4.3
TemporalLobe3.75
Testis3.2
TestisGermCell3.15
TestisIntersitial3.15
TestisLeydigCell3.75
TestisSeminiferousTubule3.25
Thalamus6.2
Thymus3.1
Thyroid4.7
Tongue5
Tonsil3.65
Trachea3.2
TrigeminalGanglion3.7
Uterus3.1
UterusCorpus3.75
WholeBlood4.05
Wholebrain3.15
colon3.8
pineal_day4.7
pineal_night4.6
retina4.525
small_intestine3.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P130027
  • 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
Amygdala3.31 ± 1.25
Basal Forebrain3.39 ± 0.65
Basal Part of Pons6.24 ± 0.39
Cerebellar Cortex4.78 ± 1.31
Cerebellar Nuclei7.28 ± 0.64
Claustrum3.35 ± 0.74
Epithalamus2.95 ± 0.95
Frontal Lobe4.72 ± 1.66
Globus Pallidus5.86 ± 0.49
Hypothalamus3.24 ± 1.01
Insula3.86 ± 0.7
Limbic Lobe3.09 ± 1
Mesencephalon4.28 ± 1.34
Myelencephalon4.29 ± 1.58
Occipital Lobe4.71 ± 1.02
Parietal Lobe5.42 ± 1.09
Pontine Tegmentum4.32 ± 1.28
Striatum1.9 ± 0.95
Subthalamus5.67 ± 0.18
Temporal Lobe4.04 ± 1.03
Thalamus6.24 ± 1.31
White Matter1.48 ± 0.85
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Epn3CBCerebellum54.59
89.23
Epn3CTXCerebral cortex23.43
18.93
Epn3HIPHippocampal region11.28
14.4
Epn3HPFHippocampal formation10.63
11.48
Epn3HYHypothalamus8.67
8.94
Epn3LSXLateral septal complex1.96
1.47
Epn3MBMidbrain11.14
13.39
Epn3MYMedulla29.27
42.81
Epn3OLFOlfactory bulb32.62
30.58
Epn3PPons25.46
32.94
Epn3PALPallidum10.02
9.65
Epn3RHPRetrohippocampal region9.91
7.91
Epn3sAMYStriatum-like amygdalar nuclei12.37
16.17
Epn3STRStriatum14.53
13.76
Epn3STRdStriatum dorsal region13.16
12.73
Epn3STRvStriatum ventral region26.13
20.21
Epn3THThalamus59.23
63.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00351362 12 12 23 NIVHNYSEAEIK 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