AutismKB 2.0

Annotation Detail for EPN2


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Basic Information Top
Gene Symbol:EPN2 ( EHB21,KIAA1065 )
Gene Full Name: epsin 2
Band: 17p11.2
Quick LinksEntrez ID:22905; OMIM: 607263; Uniprot ID:EPN2_HUMAN; ENSEMBL ID: ENSG00000072134; HGNC ID: 18639
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 body2 / 7076128
blastocyst6 / 6231996
fetus41 / 56401272
neonate0 / 310970 
infant3 / 23620127
juvenile3 / 5555653
adult89 / 193912145
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor16 / 26384560
glioma19 / 106883177
head and neck tumor21 / 136302154
kidney tumor2 / 6895929
leukemia7 / 9584273
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia9 / 9725092
normal253 / 336030775
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer6 / 10268058
retinoblastoma2 / 4635643
skin tumor5 / 12494940
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood6 / 12347848
bone1 / 7165513
bone marrow0 / 488010 
brain177 / 1100989160
cervix2 / 4817141
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye10 / 21105447
heart6 / 8962666
intestine3 / 23447212
kidney10 / 21177747
larynx1 / 2414541
liver4 / 20774319
lung13 / 33697438
lymph0 / 442700 
lymph node0 / 916100 
mammary gland7 / 15327145
mouth22 / 67052328
muscle8 / 10771574
nerve2 / 15768126
ovary1 / 1020519
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta20 / 28082571
prostate12 / 18934563
salivary gland0 / 201550 
skin6 / 21057428
spleen3 / 5395255
stomach1 / 9661910
testis25 / 33044275
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203463_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.55
Adipocyte5.8
AdrenalCortex6.1
Adrenalgland4.7
Amygdala10.4
Appendix5.8
AtrioventricularNode4.45
BDCA4+_DentriticCells5.7
Bonemarrow5.5
BronchialEpithelialCells6.1
CD105+_Endothelial5.55
CD14+_Monocytes5.95
CD19+_BCells(neg._sel.)5.9
CD33+_Myeloid6.85
CD34+6.6
CD4+_Tcells5.75
CD56+_NKCells6.45
CD71+_EarlyErythroid29.45
CD8+_Tcells5.1
CardiacMyocytes7.85
Caudatenucleus5.95
Cerebellum16.3
CerebellumPeduncles6.6
CiliaryGanglion4.1
CingulateCortex6.05
Colorectaladenocarcinoma5.55
DorsalRootGanglion4.35
FetalThyroid5.4
Fetalbrain5.8
Fetalliver4.8
Fetallung4.65
GlobusPallidus4.3
Heart8.25
Hypothalamus6.1
Kidney4.7
Leukemia_chronicMyelogenousK-5624.95
Leukemia_promyelocytic-HL-604.85
Leukemialymphoblastic(MOLT-4)4.35
Liver7.25
Lung7.25
Lymphnode4.75
Lymphoma_burkitts(Daudi)7.1
Lymphoma_burkitts(Raji)8.05
MedullaOblongata5.6
OccipitalLobe10.9
OlfactoryBulb4.4
Ovary3.6
Pancreas4.4
PancreaticIslet5.9
ParietalLobe6.65
Pituitary6.5
Placenta7.6
Pons5.35
PrefrontalCortex9.65
Prostate6.55
Salivarygland4.45
SkeletalMuscle7.35
Skin4.9
SmoothMuscle6.3
Spinalcord5.9
SubthalamicNucleus5.25
SuperiorCervicalGanglion6.9
TemporalLobe5.1
Testis4.95
TestisGermCell4.65
TestisIntersitial4.7
TestisLeydigCell6.05
TestisSeminiferousTubule4.75
Thalamus5.65
Thymus4.2
Thyroid7.05
Tongue5.7
Tonsil5.45
Trachea4.6
TrigeminalGanglion5.75
Uterus4.5
UterusCorpus5.05
WholeBlood5.95
Wholebrain14.45
colon5.65
pineal_day7.18
pineal_night10.4
retina7
small_intestine5.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P89310
  • 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
Amygdala11.43 ± 0.27
Basal Forebrain11.34 ± 0.16
Basal Part of Pons11.34 ± 0.31
Cerebellar Cortex11.31 ± 0.22
Cerebellar Nuclei11.51 ± 0.24
Claustrum11.12 ± 0.3
Epithalamus10.81 ± 0.37
Frontal Lobe11.46 ± 0.32
Globus Pallidus11.79 ± 0.2
Hypothalamus10.88 ± 0.36
Insula11.44 ± 0.2
Limbic Lobe11.64 ± 0.28
Mesencephalon11.3 ± 0.36
Myelencephalon11.42 ± 0.34
Occipital Lobe11.23 ± 0.29
Parietal Lobe11.37 ± 0.29
Pontine Tegmentum11.41 ± 0.3
Striatum11.57 ± 0.25
Subthalamus11.16 ± 0.28
Temporal Lobe11.5 ± 0.3
Thalamus11.4 ± 0.27
White Matter12.89 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Epn2CBCerebellum55.08
57.69
Epn2CTXCerebral cortex100
95.58
Epn2HIPHippocampal region93.77
100
Epn2HPFHippocampal formation95.77
100
Epn2HYHypothalamus60.87
51.36
Epn2LSXLateral septal complex100
87.49
Epn2MBMidbrain47.26
39.3
Epn2MYMedulla45.98
40.64
Epn2OLFOlfactory bulb100
93.46
Epn2PPons45.93
41.65
Epn2PALPallidum49.24
43.1
Epn2RHPRetrohippocampal region99.35
84.64
Epn2sAMYStriatum-like amygdalar nuclei85.39
66.61
Epn2STRStriatum90.01
69.56
Epn2STRdStriatum dorsal region87.31
65.95
Epn2STRvStriatum ventral region98.94
77.07
Epn2THThalamus51.24
42.56
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00515853 17 350 366 NSDPWAASQQPASSAGK 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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