AutismKB 2.0

Annotation Detail for LRRC8D


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Basic Information Top
Gene Symbol:LRRC8D ( FLJ10470,FLJ20403,LRRC5 )
Gene Full Name: leucine rich repeat containing 8 family, member D
Band: 1p22.2
Quick LinksEntrez ID:55144; OMIM: 612890; Uniprot ID:LRC8D_HUMAN; ENSEMBL ID: ENSG00000171492; HGNC ID: 16992
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
blastocyst0 / 623190 
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile8 / 55556143
adult60 / 193912130
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor20 / 26384575
glioma1 / 1068839
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor5 / 9635951
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia7 / 9725071
normal89 / 336030726
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor8 / 9025788
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
blood3 / 12347824
bone2 / 7165527
bone marrow3 / 4880161
brain39 / 110098935
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye6 / 21105428
heart1 / 8962611
intestine7 / 23447229
kidney12 / 21177756
larynx1 / 2414541
liver6 / 20774328
lung5 / 33697414
lymph1 / 4427022
lymph node1 / 9161010
mammary gland4 / 15327126
mouth3 / 6705244
muscle0 / 1077150 
nerve2 / 15768126
ovary1 / 1020519
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate1 / 1893455
salivary gland0 / 201550 
skin4 / 21057418
spleen1 / 5395218
stomach2 / 9661920
testis20 / 33044260
thymus9 / 81131110
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus18 / 23287877
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218684_at
Cell line Expression level Expression bar
721_B_lymphoblasts359.9
Adipocyte68.9
AdrenalCortex68.9
Adrenalgland88.5
Amygdala221.75
Appendix27.15
AtrioventricularNode30.75
BDCA4+_DentriticCells319.3
Bonemarrow44.4
BronchialEpithelialCells113.2
CD105+_Endothelial78.8
CD14+_Monocytes461.1
CD19+_BCells(neg._sel.)248.8
CD33+_Myeloid782.1
CD34+390.05
CD4+_Tcells303.6
CD56+_NKCells277.75
CD71+_EarlyErythroid22.4
CD8+_Tcells202.35
CardiacMyocytes91.25
Caudatenucleus153.15
Cerebellum56.35
CerebellumPeduncles64.2
CiliaryGanglion27.15
CingulateCortex115.85
Colorectaladenocarcinoma91.5
DorsalRootGanglion50.5
FetalThyroid64.4
Fetalbrain118.3
Fetalliver60.35
Fetallung39.35
GlobusPallidus52.4
Heart55.5
Hypothalamus401.8
Kidney67.3
Leukemia_chronicMyelogenousK-562160.3
Leukemia_promyelocytic-HL-60154.75
Leukemialymphoblastic(MOLT-4)84.05
Liver75.65
Lung25.3
Lymphnode98.8
Lymphoma_burkitts(Daudi)180.05
Lymphoma_burkitts(Raji)137.05
MedullaOblongata144.15
OccipitalLobe135.1
OlfactoryBulb141.55
Ovary21.65
Pancreas102.8
PancreaticIslet83.7
ParietalLobe149.7
Pituitary216.35
Placenta29.4
Pons62.25
PrefrontalCortex299.75
Prostate35.9
Salivarygland93
SkeletalMuscle37.3
Skin25.35
SmoothMuscle76.1
Spinalcord344.5
SubthalamicNucleus102.7
SuperiorCervicalGanglion53.3
TemporalLobe86.9
Testis43.75
TestisGermCell113.75
TestisIntersitial52.85
TestisLeydigCell25.9
TestisSeminiferousTubule48.25
Thalamus195
Thymus62.35
Thyroid119.35
Tongue41.25
Tonsil69.3
Trachea72
TrigeminalGanglion44.7
Uterus47.25
UterusCorpus33.55
WholeBlood241.65
Wholebrain141.45
colon53.25
pineal_day173.22
pineal_night205.18
retina186.3
small_intestine86.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12762_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
Amygdala2.71 ± 0.95
Basal Forebrain2.31 ± 0.52
Basal Part of Pons2.26 ± 0.54
Cerebellar Cortex2.36 ± 0.69
Cerebellar Nuclei2.72 ± 0.71
Claustrum2.86 ± 0.67
Epithalamus2.51 ± 1.17
Frontal Lobe2.45 ± 0.75
Globus Pallidus3.19 ± 0.59
Hypothalamus2.27 ± 0.57
Insula2.2 ± 0.54
Limbic Lobe2.44 ± 0.64
Mesencephalon2.54 ± 0.68
Myelencephalon2.52 ± 0.72
Occipital Lobe2.58 ± 0.79
Parietal Lobe2.57 ± 0.74
Pontine Tegmentum2.59 ± 0.7
Striatum2.71 ± 0.61
Subthalamus2.66 ± 0.63
Temporal Lobe2.39 ± 0.71
Thalamus2.5 ± 0.58
White Matter3.33 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Lrrc8dCBCerebellum17.22
23.09
Lrrc8dCTXCerebral cortex37.54
30.64
Lrrc8dHIPHippocampal region30.94
49.1
Lrrc8dHPFHippocampal formation30.72
39.34
Lrrc8dHYHypothalamus19.26
15.71
Lrrc8dLSXLateral septal complex20.78
17.73
Lrrc8dMBMidbrain11.86
13.29
Lrrc8dMYMedulla9.03
10.87
Lrrc8dOLFOlfactory bulb35.14
33.21
Lrrc8dPPons10.26
11.5
Lrrc8dPALPallidum12.77
12.42
Lrrc8dRHPRetrohippocampal region30.7
27.17
Lrrc8dsAMYStriatum-like amygdalar nuclei9.33
7.1
Lrrc8dSTRStriatum13.17
10.78
Lrrc8dSTRdStriatum dorsal region11.05
9.47
Lrrc8dSTRvStriatum ventral region20.59
15.06
Lrrc8dTHThalamus10.47
10.16
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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