AutismKB 2.0

Annotation Detail for LRRC8E


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Basic Information Top
Gene Symbol:LRRC8E ( FLJ23420 )
Gene Full Name: leucine rich repeat containing 8 family, member E
Band: 19p13.2
Quick LinksEntrez ID:80131; OMIM: 612891; Uniprot ID:LRC8E_HUMAN; ENSEMBL ID: ENSG00000171017; HGNC ID: 26272
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 body1 / 7076114
blastocyst0 / 623190 
fetus1 / 5640121
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult29 / 193912114
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor12 / 13630288
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal25 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain2 / 11009891
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine4 / 23447217
kidney3 / 21177714
larynx3 / 24145124
liver1 / 2077434
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth8 / 67052119
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate4 / 18934521
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220174_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.3
Adipocyte5.25
AdrenalCortex5.9
Adrenalgland4.65
Amygdala5.45
Appendix5.65
AtrioventricularNode4.5
BDCA4+_DentriticCells5.6
Bonemarrow5.55
BronchialEpithelialCells5.3
CD105+_Endothelial5.65
CD14+_Monocytes5.65
CD19+_BCells(neg._sel.)5.65
CD33+_Myeloid6.65
CD34+6.65
CD4+_Tcells5.7
CD56+_NKCells6.15
CD71+_EarlyErythroid5.05
CD8+_Tcells4.95
CardiacMyocytes7.45
Caudatenucleus4.85
Cerebellum4.4
CerebellumPeduncles6.35
CiliaryGanglion3.85
CingulateCortex5.6
Colorectaladenocarcinoma5.45
DorsalRootGanglion4.1
FetalThyroid5.2
Fetalbrain5.15
Fetalliver4.6
Fetallung4.2
GlobusPallidus4.05
Heart7.6
Hypothalamus5.7
Kidney4.65
Leukemia_chronicMyelogenousK-5624.85
Leukemia_promyelocytic-HL-604.75
Leukemialymphoblastic(MOLT-4)4.25
Liver7.35
Lung5.8
Lymphnode4.6
Lymphoma_burkitts(Daudi)6.85
Lymphoma_burkitts(Raji)7.65
MedullaOblongata4.9
OccipitalLobe4.85
OlfactoryBulb4.2
Ovary3.7
Pancreas4.35
PancreaticIslet5.75
ParietalLobe5.95
Pituitary6.3
Placenta5.55
Pons6.25
PrefrontalCortex6.45
Prostate6.35
Salivarygland4.45
SkeletalMuscle7.1
Skin4.3
SmoothMuscle6
Spinalcord5.7
SubthalamicNucleus5
SuperiorCervicalGanglion7.2
TemporalLobe5
Testis4.55
TestisGermCell4.3
TestisIntersitial4.55
TestisLeydigCell5.35
TestisSeminiferousTubule4.6
Thalamus5.5
Thymus4.1
Thyroid6.6
Tongue5.65
Tonsil5.3
Trachea4.5
TrigeminalGanglion5.95
Uterus4.35
UterusCorpus5.05
WholeBlood5.8
Wholebrain4.5
colon5.4
pineal_day6.58
pineal_night6.44
retina6.475
small_intestine5.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P348203
  • 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
Amygdala2.13 ± 1.02
Basal Forebrain1.65 ± 0.2
Basal Part of Pons1.72 ± 0.79
Cerebellar Cortex1.65 ± 0.86
Cerebellar Nuclei1.99 ± 0.71
Claustrum2.68 ± 0.97
Epithalamus1.49 ± 0.86
Frontal Lobe1.55 ± 0.68
Globus Pallidus2.2 ± 0.29
Hypothalamus1.74 ± 0.68
Insula1.68 ± 0.6
Limbic Lobe1.76 ± 0.74
Mesencephalon1.86 ± 0.74
Myelencephalon1.77 ± 0.73
Occipital Lobe1.83 ± 0.82
Parietal Lobe1.67 ± 0.73
Pontine Tegmentum1.7 ± 0.67
Striatum1.85 ± 0.59
Subthalamus1.86 ± 0.72
Temporal Lobe1.69 ± 0.77
Thalamus1.65 ± 0.62
White Matter1.99 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Lrrc8eCBCerebellum0.59
0.97
Lrrc8eCTXCerebral cortex0.71
0.59
Lrrc8eHIPHippocampal region1.08
1.11
Lrrc8eHPFHippocampal formation1.17
1.21
Lrrc8eHYHypothalamus0.14
0.14
Lrrc8eLSXLateral septal complex0.33
0.66
Lrrc8eMBMidbrain0.17
0.37
Lrrc8eMYMedulla1.88
2.48
Lrrc8eOLFOlfactory bulb1.52
1.55
Lrrc8ePPons0.75
1.11
Lrrc8ePALPallidum0.2
0.15
Lrrc8eRHPRetrohippocampal region1.33
1.31
Lrrc8esAMYStriatum-like amygdalar nuclei0.34
1.01
Lrrc8eSTRStriatum0.52
0.64
Lrrc8eSTRdStriatum dorsal region0.6
0.53
Lrrc8eSTRvStriatum ventral region0.48
0.98
Lrrc8eTHThalamus0.13
0.2
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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