AutismKB 2.0

Annotation Detail for LRRC8B


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Basic Information Top
Gene Symbol:LRRC8B ( KIAA0231,MGC42220,TA-LRRP,TALRRP )
Gene Full Name: leucine rich repeat containing 8 family, member B
Band: 1p22.2
Quick LinksEntrez ID:23507; OMIM: 612888; Uniprot ID:LRC8B_HUMAN; ENSEMBL ID: ENSG00000197147; HGNC ID: 30692
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 
blastocyst5 / 6231980
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult41 / 193912121
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult3 / 19391211
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 
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor4 / 26384515
glioma5 / 10688346
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal100 / 336030729
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor5 / 9025755
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor11 / 26384541
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal13 / 33603073
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
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 gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood1 / 1234788
bone2 / 7165527
bone marrow0 / 488010 
brain54 / 110098949
cervix0 / 481710 
connective tissue1 / 1492556
ear2 / 16212123
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye7 / 21105433
heart4 / 8962644
intestine7 / 23447229
kidney4 / 21177718
larynx0 / 241450 
liver3 / 20774314
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate5 / 18934526
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis25 / 33044275
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212976_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.15
Adipocyte7.3
AdrenalCortex10.15
Adrenalgland7
Amygdala64.55
Appendix9.6
AtrioventricularNode8.4
BDCA4+_DentriticCells7.25
Bonemarrow8.7
BronchialEpithelialCells7.1
CD105+_Endothelial7.45
CD14+_Monocytes8.05
CD19+_BCells(neg._sel.)7.7
CD33+_Myeloid9.1
CD34+8.8
CD4+_Tcells7.55
CD56+_NKCells8.25
CD71+_EarlyErythroid7.85
CD8+_Tcells6.65
CardiacMyocytes15.45
Caudatenucleus14.5
Cerebellum6.3
CerebellumPeduncles9.6
CiliaryGanglion8.8
CingulateCortex14.35
Colorectaladenocarcinoma7.65
DorsalRootGanglion7.25
FetalThyroid7.8
Fetalbrain17.75
Fetalliver6.75
Fetallung5.65
GlobusPallidus7.65
Heart13.8
Hypothalamus7.7
Kidney7.1
Leukemia_chronicMyelogenousK-5627.1
Leukemia_promyelocytic-HL-606.6
Leukemialymphoblastic(MOLT-4)5.7
Liver12.1
Lung8.2
Lymphnode6.15
Lymphoma_burkitts(Daudi)10.1
Lymphoma_burkitts(Raji)12.3
MedullaOblongata28
OccipitalLobe13.45
OlfactoryBulb5.95
Ovary5.8
Pancreas6.55
PancreaticIslet8.3
ParietalLobe9.75
Pituitary8.75
Placenta7.3
Pons11.9
PrefrontalCortex72.2
Prostate8.45
Salivarygland6.55
SkeletalMuscle12.05
Skin7.45
SmoothMuscle8.5
Spinalcord7.9
SubthalamicNucleus8.4
SuperiorCervicalGanglion12.4
TemporalLobe39.4
Testis6.5
TestisGermCell5.9
TestisIntersitial6.65
TestisLeydigCell8.2
TestisSeminiferousTubule6.5
Thalamus8.1
Thymus5.7
Thyroid8.9
Tongue9
Tonsil7.6
Trachea6.25
TrigeminalGanglion13.5
Uterus5.85
UterusCorpus8
WholeBlood8.15
Wholebrain14.85
colon7.4
pineal_day9.12
pineal_night9.12
retina9.05
small_intestine7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P115167
  • 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
Amygdala7.68 ± 0.62
Basal Forebrain7.28 ± 0.5
Basal Part of Pons7.8 ± 0.31
Cerebellar Cortex6.62 ± 0.35
Cerebellar Nuclei7.1 ± 0.68
Claustrum7.23 ± 0.87
Epithalamus6.49 ± 0.39
Frontal Lobe7.77 ± 0.52
Globus Pallidus6.46 ± 0.98
Hypothalamus6.85 ± 0.59
Insula7.7 ± 0.33
Limbic Lobe7.66 ± 0.8
Mesencephalon6.79 ± 0.73
Myelencephalon7.3 ± 0.58
Occipital Lobe6.74 ± 0.94
Parietal Lobe7.47 ± 0.63
Pontine Tegmentum7.24 ± 0.56
Striatum6.75 ± 1.25
Subthalamus6.9 ± 0.44
Temporal Lobe7.68 ± 0.49
Thalamus6.84 ± 0.56
White Matter7.75 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Lrrc8bCBCerebellum0.29
0.36
Lrrc8bCTXCerebral cortex1.91
1.52
Lrrc8bHIPHippocampal region1.45
1.31
Lrrc8bHPFHippocampal formation1.93
1.92
Lrrc8bHYHypothalamus0.03
0.05
Lrrc8bLSXLateral septal complex0.09
0
Lrrc8bMBMidbrain0.18
0.3
Lrrc8bMYMedulla0.14
0.18
Lrrc8bOLFOlfactory bulb1.39
2
Lrrc8bPPons0.07
0.11
Lrrc8bPALPallidum0.02
0.01
Lrrc8bRHPRetrohippocampal region2.94
2.97
Lrrc8bsAMYStriatum-like amygdalar nuclei0.3
0.17
Lrrc8bSTRStriatum0.22
0.16
Lrrc8bSTRdStriatum dorsal region0.26
0.19
Lrrc8bSTRvStriatum ventral region0.14
0.08
Lrrc8bTHThalamus0.51
0.69
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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