AutismKB 2.0

Annotation Detail for ERN2


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Basic Information Top
Gene Symbol:ERN2 ( IRE1b )
Gene Full Name: endoplasmic reticulum to nucleus signaling 2
Band: 16p12.2
Quick LinksEntrez ID:10595; OMIM: 604034; Uniprot ID:ERN2_HUMAN; ENSEMBL ID: ENSG00000134398; HGNC ID: 16942
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 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult30 / 193912115
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal7 / 33603072
ovarian tumor0 / 766820 
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites6 / 40015149
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine20 / 23447285
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth5 / 6705274
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach3 / 9661931
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea17 / 52413324
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214372_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts50.9
Adipocyte91.7
AdrenalCortex152.45
Adrenalgland102.05
Amygdala90.7
Appendix129.7
AtrioventricularNode104.55
BDCA4+_DentriticCells56.1
Bonemarrow100.35
BronchialEpithelialCells42.8
CD105+_Endothelial88.05
CD14+_Monocytes78.75
CD19+_BCells(neg._sel.)61.4
CD33+_Myeloid107.6
CD34+100.9
CD4+_Tcells106.65
CD56+_NKCells82.55
CD71+_EarlyErythroid54.35
CD8+_Tcells88.65
CardiacMyocytes138.45
Caudatenucleus85.85
Cerebellum119.45
CerebellumPeduncles123.15
CiliaryGanglion79
CingulateCortex181.85
Colorectaladenocarcinoma94.95
DorsalRootGanglion81.4
FetalThyroid102.9
Fetalbrain95.05
Fetalliver83.85
Fetallung71.7
GlobusPallidus143.4
Heart127
Hypothalamus94.35
Kidney84.1
Leukemia_chronicMyelogenousK-56288.1
Leukemia_promyelocytic-HL-6069.5
Leukemialymphoblastic(MOLT-4)73.95
Liver115.2
Lung93.4
Lymphnode91.3
Lymphoma_burkitts(Daudi)132.15
Lymphoma_burkitts(Raji)137.8
MedullaOblongata117.4
OccipitalLobe137.25
OlfactoryBulb84.2
Ovary64.6
Pancreas90.4
PancreaticIslet104.6
ParietalLobe169.15
Pituitary139.85
Placenta105.35
Pons135.2
PrefrontalCortex115.05
Prostate131.45
Salivarygland85
SkeletalMuscle133.3
Skin75.05
SmoothMuscle87.3
Spinalcord101.3
SubthalamicNucleus89.75
SuperiorCervicalGanglion192.65
TemporalLobe101.9
Testis83.2
TestisGermCell75.4
TestisIntersitial82.25
TestisLeydigCell121.8
TestisSeminiferousTubule141.6
Thalamus104.7
Thymus75
Thyroid114.55
Tongue139.5
Tonsil100.7
Trachea142.25
TrigeminalGanglion127.5
Uterus72.5
UterusCorpus86.5
WholeBlood66.45
Wholebrain59.8
colon109.2
pineal_day106.46
pineal_night113.42
retina103.45
small_intestine77.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P49310
  • 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
Amygdala5.67 ± 0.67
Basal Forebrain5.5 ± 0.33
Basal Part of Pons5.64 ± 0.28
Cerebellar Cortex5.26 ± 0.57
Cerebellar Nuclei5.73 ± 0.25
Claustrum5.86 ± 0.6
Epithalamus4.66 ± 0.4
Frontal Lobe5.34 ± 0.63
Globus Pallidus6.11 ± 0.37
Hypothalamus4.78 ± 0.78
Insula5.28 ± 0.54
Limbic Lobe5.57 ± 0.56
Mesencephalon5.45 ± 0.46
Myelencephalon5.49 ± 0.6
Occipital Lobe5.4 ± 0.67
Parietal Lobe5.43 ± 0.57
Pontine Tegmentum5.29 ± 0.5
Striatum5.68 ± 0.5
Subthalamus5.36 ± 0.98
Temporal Lobe5.33 ± 0.58
Thalamus5.47 ± 0.49
White Matter5.71 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ern2CBCerebellum8.24
9.1
Ern2CTXCerebral cortex29.8
23.17
Ern2HIPHippocampal region59.74
100
Ern2HPFHippocampal formation55.93
76.8
Ern2HYHypothalamus9.56
7.16
Ern2LSXLateral septal complex24.26
18.64
Ern2MBMidbrain8.81
8.16
Ern2MYMedulla14.35
15.11
Ern2OLFOlfactory bulb49.34
47.44
Ern2PPons10.48
10.27
Ern2PALPallidum18.42
16.88
Ern2RHPRetrohippocampal region49.81
47.56
Ern2sAMYStriatum-like amygdalar nuclei32.66
24.88
Ern2STRStriatum17.1
12.24
Ern2STRdStriatum dorsal region12.56
8.75
Ern2STRvStriatum ventral region21.88
14.72
Ern2THThalamus17.91
15.95
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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