AutismKB 2.0

Annotation Detail for GABRB3


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Basic Information Top
Gene Symbol:GABRB3 ( ECA5,MGC9051 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, beta 3
Band: 15q12
Quick LinksEntrez ID:2562; OMIM: 137192; Uniprot ID:GBRB3_HUMAN; ENSEMBL ID: ENSG00000166206; HGNC ID: 4083
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 
blastocyst7 / 62319112
fetus27 / 56401247
neonate0 / 310970 
infant3 / 23620127
juvenile1 / 5555617
adult36 / 193912118
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 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor29 / 263845109
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal139 / 336030741
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma7 / 46356151
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
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 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow0 / 488010 
brain76 / 110098969
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye18 / 21105485
heart0 / 896260 
intestine0 / 2344720 
kidney9 / 21177742
larynx4 / 24145165
liver1 / 2077434
lung31 / 33697491
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary0 / 1020510 
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis11 / 33044233
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205850_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.9
Adipocyte6.05
AdrenalCortex7.25
Adrenalgland5.45
Amygdala8.6
Appendix6.75
AtrioventricularNode5.55
BDCA4+_DentriticCells6.55
Bonemarrow6.55
BronchialEpithelialCells5.85
CD105+_Endothelial6.1
CD14+_Monocytes6.5
CD19+_BCells(neg._sel.)6.3
CD33+_Myeloid7.85
CD34+7.5
CD4+_Tcells6.35
CD56+_NKCells7.2
CD71+_EarlyErythroid5.85
CD8+_Tcells5.5
CardiacMyocytes9.45
Caudatenucleus5.6
Cerebellum5.05
CerebellumPeduncles8.7
CiliaryGanglion5.05
CingulateCortex6.65
Colorectaladenocarcinoma6.1
DorsalRootGanglion10.15
FetalThyroid6.05
Fetalbrain6.3
Fetalliver5.45
Fetallung4.7
GlobusPallidus5.05
Heart9.2
Hypothalamus6.5
Kidney5.45
Leukemia_chronicMyelogenousK-5625.6
Leukemia_promyelocytic-HL-605.4
Leukemialymphoblastic(MOLT-4)4.9
Liver8.7
Lung6.65
Lymphnode5.05
Lymphoma_burkitts(Daudi)8.1
Lymphoma_burkitts(Raji)9.2
MedullaOblongata5.6
OccipitalLobe7.75
OlfactoryBulb4.75
Ovary4.4
Pancreas5.05
PancreaticIslet7.25
ParietalLobe6.85
Pituitary10.7
Placenta6.1
Pons6.9
PrefrontalCortex7.65
Prostate7.05
Salivarygland5.15
SkeletalMuscle9.1
Skin5.45
SmoothMuscle6.85
Spinalcord6.5
SubthalamicNucleus14.95
SuperiorCervicalGanglion8.2
TemporalLobe5.8
Testis5.25
TestisGermCell5.3
TestisIntersitial5.4
TestisLeydigCell6.5
TestisSeminiferousTubule5.3
Thalamus6.4
Thymus4.6
Thyroid7.4
Tongue6.75
Tonsil6.1
Trachea5.15
TrigeminalGanglion7.05
Uterus4.85
UterusCorpus5.9
WholeBlood6.65
Wholebrain5.4
colon6.2
pineal_day9.12
pineal_night24.34
retina7.45
small_intestine5.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P14821
  • 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
Amygdala7.52 ± 0.34
Basal Forebrain6.78 ± 0.47
Basal Part of Pons6.65 ± 0.39
Cerebellar Cortex6.57 ± 0.16
Cerebellar Nuclei6.01 ± 0.45
Claustrum7.5 ± 0.28
Epithalamus6.14 ± 0.64
Frontal Lobe7.21 ± 0.54
Globus Pallidus5.65 ± 0.96
Hypothalamus6.69 ± 0.37
Insula7.37 ± 0.45
Limbic Lobe7.63 ± 0.56
Mesencephalon6.78 ± 0.64
Myelencephalon6.94 ± 0.63
Occipital Lobe6.93 ± 0.57
Parietal Lobe7.01 ± 0.54
Pontine Tegmentum7.14 ± 0.58
Striatum7.26 ± 0.78
Subthalamus6.65 ± 0.07
Temporal Lobe7.32 ± 0.4
Thalamus6.86 ± 0.46
White Matter4.36 ± 0.75
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gabrb3CBCerebellum6.49
5.51
Gabrb3CTXCerebral cortex100
86.51
Gabrb3HIPHippocampal region100
100
Gabrb3HPFHippocampal formation100
100
Gabrb3HYHypothalamus31.82
13.76
Gabrb3LSXLateral septal complex100
85.45
Gabrb3MBMidbrain25.92
11.58
Gabrb3MYMedulla37.07
21.88
Gabrb3OLFOlfactory bulb100
100
Gabrb3PPons29.4
14.77
Gabrb3PALPallidum45.88
24.17
Gabrb3RHPRetrohippocampal region100
100
Gabrb3sAMYStriatum-like amygdalar nuclei85.79
41.27
Gabrb3STRStriatum100
61.85
Gabrb3STRdStriatum dorsal region100
59.1
Gabrb3STRvStriatum ventral region100
71.64
Gabrb3THThalamus10.34
5.25
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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