AutismKB 2.0

Annotation Detail for LRBA


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:LRBA ( BGL,CDC4L,DKFZp686A09128,DKFZp686K03100,DKFZp686P2258,FLJ16600,FLJ25686,LAB300,LBA,MGC72098 )
Gene Full Name: LPS-responsive vesicle trafficking, beach and anchor containing
Band: 4q31.3
Quick LinksEntrez ID:987; OMIM: 606453; Uniprot ID:LRBA_HUMAN; ENSEMBL ID: ENSG00000198589; HGNC ID: 1742
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 body7 / 7076198
blastocyst3 / 6231948
fetus35 / 56401262
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult95 / 193912148
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) tumor8 / 9417884
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor10 / 11424687
esophageal tumor2 / 17290115
gastrointestinal tumor17 / 119369142
germ cell tumor10 / 26384537
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal139 / 336030741
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer4 / 10268038
retinoblastoma2 / 4635643
skin tumor6 / 12494948
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder3 / 29757100
blood4 / 12347832
bone4 / 7165555
bone marrow3 / 4880161
brain19 / 110098917
cervix1 / 4817120
connective tissue9 / 14925560
ear3 / 16212185
embryonic tissue14 / 21572264
esophagus2 / 2020998
eye6 / 21105428
heart4 / 8962644
intestine14 / 23447259
kidney8 / 21177737
larynx1 / 2414541
liver3 / 20774314
lung11 / 33697432
lymph0 / 442700 
lymph node9 / 9161098
mammary gland16 / 153271104
mouth0 / 670520 
muscle8 / 10771574
nerve1 / 1576863
ovary4 / 10205139
pancreas5 / 21481223
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta9 / 28082532
prostate7 / 18934536
salivary gland1 / 2015549
skin11 / 21057452
spleen2 / 5395237
stomach15 / 96619155
testis18 / 33044254
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214109_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.45
Adipocyte4
AdrenalCortex4.45
Adrenalgland3.6
Amygdala4.35
Appendix5.5
AtrioventricularNode4.85
BDCA4+_DentriticCells4.8
Bonemarrow4.6
BronchialEpithelialCells4.2
CD105+_Endothelial15.2
CD14+_Monocytes4.5
CD19+_BCells(neg._sel.)6.05
CD33+_Myeloid4.95
CD34+14.25
CD4+_Tcells5.65
CD56+_NKCells7.4
CD71+_EarlyErythroid4
CD8+_Tcells6.15
CardiacMyocytes5.35
Caudatenucleus3.65
Cerebellum3.45
CerebellumPeduncles4.8
CiliaryGanglion3.15
CingulateCortex4.3
Colorectaladenocarcinoma5.05
DorsalRootGanglion4.95
FetalThyroid4.55
Fetalbrain4.15
Fetalliver4.65
Fetallung3.5
GlobusPallidus3.1
Heart5.35
Hypothalamus4.15
Kidney3.35
Leukemia_chronicMyelogenousK-5623.85
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.45
Liver5.55
Lung4.65
Lymphnode3.65
Lymphoma_burkitts(Daudi)5.6
Lymphoma_burkitts(Raji)6.1
MedullaOblongata3.9
OccipitalLobe3.5
OlfactoryBulb3.4
Ovary4.35
Pancreas3.25
PancreaticIslet4.55
ParietalLobe4.1
Pituitary5.8
Placenta4.3
Pons4
PrefrontalCortex5.15
Prostate6
Salivarygland4.2
SkeletalMuscle4.75
Skin6.05
SmoothMuscle4.75
Spinalcord4.2
SubthalamicNucleus3.9
SuperiorCervicalGanglion7.4
TemporalLobe3.7
Testis3.7
TestisGermCell3.85
TestisIntersitial3.6
TestisLeydigCell6
TestisSeminiferousTubule3.65
Thalamus4
Thymus3.3
Thyroid5.4
Tongue4.25
Tonsil4.1
Trachea3.45
TrigeminalGanglion4.95
Uterus3.75
UterusCorpus4.35
WholeBlood4.5
Wholebrain3.25
colon6.35
pineal_day12.34
pineal_night15.22
retina5.2
small_intestine5.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9081_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
Amygdala3 ± 0.78
Basal Forebrain2.61 ± 0.45
Basal Part of Pons3.12 ± 0.57
Cerebellar Cortex3.01 ± 0.38
Cerebellar Nuclei2.8 ± 0.6
Claustrum3.27 ± 0.88
Epithalamus3.23 ± 0.35
Frontal Lobe2.68 ± 0.67
Globus Pallidus2.77 ± 1.17
Hypothalamus2.83 ± 0.67
Insula2.09 ± 0.59
Limbic Lobe2.84 ± 0.63
Mesencephalon2.87 ± 0.74
Myelencephalon2.81 ± 0.6
Occipital Lobe2.86 ± 0.65
Parietal Lobe2.78 ± 0.66
Pontine Tegmentum2.81 ± 0.72
Striatum3.27 ± 0.54
Subthalamus3.06 ± 0.25
Temporal Lobe2.84 ± 0.65
Thalamus2.75 ± 0.72
White Matter3.03 ± 0.86
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
LrbaCBCerebellum1.65
1.8
LrbaCTXCerebral cortex0.55
0.59
LrbaHIPHippocampal region0.54
0.55
LrbaHPFHippocampal formation0.56
0.52
LrbaHYHypothalamus0.17
0.15
LrbaLSXLateral septal complex0
0
LrbaMBMidbrain0.68
0.66
LrbaMYMedulla3.06
3.06
LrbaOLFOlfactory bulb4.42
3.38
LrbaPPons1.97
1.92
LrbaPALPallidum0.23
0.21
LrbaRHPRetrohippocampal region0.6
0.49
LrbasAMYStriatum-like amygdalar nuclei1.64
1.24
LrbaSTRStriatum0.46
0.35
LrbaSTRdStriatum dorsal region0.15
0.1
LrbaSTRvStriatum ventral region1
0.72
LrbaTHThalamus0.6
0.57
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003222 16 1914 1929 HAEFESLCAQYSADKR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved