AutismKB 2.0

Annotation Detail for GABBR2


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Basic Information Top
Gene Symbol:GABBR2 ( FLJ36928,GABABR2,GPR51,GPRC3B,HG20,HRIHFB2099 )
Gene Full Name: gamma-aminobutyric acid (GABA) B receptor, 2
Band: 9q22.33
Quick LinksEntrez ID:9568; OMIM: 607340; Uniprot ID:GABR2_HUMAN; ENSEMBL ID: ENSG00000136928; HGNC ID: 4507
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 
fetus20 / 56401235
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult30 / 193912115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma5 / 10688346
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal86 / 336030725
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain87 / 110098979
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye9 / 21105442
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217077_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts18.85
Adipocyte16.9
AdrenalCortex21.6
Adrenalgland41.4
Amygdala508.7
Appendix16.6
AtrioventricularNode18.6
BDCA4+_DentriticCells12.35
Bonemarrow20.4
BronchialEpithelialCells18.75
CD105+_Endothelial13.7
CD14+_Monocytes15.95
CD19+_BCells(neg._sel.)12.05
CD33+_Myeloid16.1
CD34+17.55
CD4+_Tcells18.85
CD56+_NKCells12.5
CD71+_EarlyErythroid13.85
CD8+_Tcells13.8
CardiacMyocytes48.85
Caudatenucleus73.7
Cerebellum331.75
CerebellumPeduncles272.05
CiliaryGanglion14.75
CingulateCortex348.5
Colorectaladenocarcinoma19.95
DorsalRootGanglion16.25
FetalThyroid20.7
Fetalbrain277.7
Fetalliver24.85
Fetallung17.05
GlobusPallidus181.2
Heart94.9
Hypothalamus138.95
Kidney35.85
Leukemia_chronicMyelogenousK-56214.5
Leukemia_promyelocytic-HL-6013.7
Leukemialymphoblastic(MOLT-4)17.15
Liver42.25
Lung15.65
Lymphnode12.6
Lymphoma_burkitts(Daudi)44.55
Lymphoma_burkitts(Raji)30.35
MedullaOblongata225.05
OccipitalLobe297.4
OlfactoryBulb22.15
Ovary22.15
Pancreas14.5
PancreaticIslet20.15
ParietalLobe323.55
Pituitary24
Placenta17.6
Pons105.3
PrefrontalCortex531
Prostate17.1
Salivarygland14.15
SkeletalMuscle38.8
Skin17.85
SmoothMuscle28.5
Spinalcord23.85
SubthalamicNucleus326.85
SuperiorCervicalGanglion30.15
TemporalLobe432.15
Testis14.75
TestisGermCell14.45
TestisIntersitial14.85
TestisLeydigCell19.75
TestisSeminiferousTubule15.5
Thalamus419.05
Thymus11.1
Thyroid32.45
Tongue22.9
Tonsil24.3
Trachea14.05
TrigeminalGanglion19.85
Uterus11.25
UterusCorpus24.85
WholeBlood15.8
Wholebrain858.1
colon14.55
pineal_day99.46
pineal_night112.96
retina38
small_intestine15.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16821_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
Amygdala8.48 ± 0.69
Basal Forebrain6.84 ± 0.36
Basal Part of Pons8.89 ± 0.11
Cerebellar Cortex8.32 ± 0.27
Cerebellar Nuclei6.81 ± 0.35
Claustrum8.38 ± 0.37
Epithalamus6.79 ± 1.22
Frontal Lobe8.13 ± 0.56
Globus Pallidus6.51 ± 0.68
Hypothalamus6.92 ± 0.99
Insula8.25 ± 0.14
Limbic Lobe8.39 ± 0.34
Mesencephalon7.64 ± 0.71
Myelencephalon7.93 ± 0.88
Occipital Lobe8.11 ± 0.52
Parietal Lobe8.19 ± 0.58
Pontine Tegmentum7.71 ± 0.45
Striatum5.88 ± 0.85
Subthalamus7.24 ± 0.26
Temporal Lobe8.37 ± 0.36
Thalamus8.71 ± 0.47
White Matter5.36 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gabbr2CBCerebellum69.63
100
Gabbr2CTXCerebral cortex100
100
Gabbr2HIPHippocampal region100
100
Gabbr2HPFHippocampal formation100
100
Gabbr2HYHypothalamus100
100
Gabbr2LSXLateral septal complex100
100
Gabbr2MBMidbrain100
100
Gabbr2MYMedulla98.38
100
Gabbr2OLFOlfactory bulb100
100
Gabbr2PPons96.44
100
Gabbr2PALPallidum94.56
100
Gabbr2RHPRetrohippocampal region100
100
Gabbr2sAMYStriatum-like amygdalar nuclei100
100
Gabbr2STRStriatum77.61
72.02
Gabbr2STRdStriatum dorsal region64.12
56.08
Gabbr2STRvStriatum ventral region74.05
61.51
Gabbr2THThalamus100
100
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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