AutismKB 2.0

Annotation Detail for GABRR2


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Basic Information Top
Gene Symbol:GABRR2 ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) receptor, rho 2
Band: 6q15
Quick LinksEntrez ID:2570; OMIM: 137162; Uniprot ID:GBRR2_HUMAN; ENSEMBL ID: ENSG00000111886; HGNC ID: 4091
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 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult6 / 19391213
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal8 / 33603072
ovarian tumor0 / 766820 
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis0 / 3304420 
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208217_at
Cell line Expression level Expression bar
721_B_lymphoblasts27.75
Adipocyte44.25
AdrenalCortex40
Adrenalgland38.3
Amygdala35.05
Appendix35.9
AtrioventricularNode49.5
BDCA4+_DentriticCells20.55
Bonemarrow46.55
BronchialEpithelialCells32.7
CD105+_Endothelial20.85
CD14+_Monocytes14.05
CD19+_BCells(neg._sel.)29.55
CD33+_Myeloid28.65
CD34+22.05
CD4+_Tcells29.3
CD56+_NKCells18.05
CD71+_EarlyErythroid14.8
CD8+_Tcells17.85
CardiacMyocytes43.05
Caudatenucleus45.4
Cerebellum33.85
CerebellumPeduncles42.65
CiliaryGanglion28.45
CingulateCortex36.35
Colorectaladenocarcinoma33.45
DorsalRootGanglion65.9
FetalThyroid32.35
Fetalbrain38.8
Fetalliver34.65
Fetallung25.15
GlobusPallidus25.3
Heart57.15
Hypothalamus32.15
Kidney35.15
Leukemia_chronicMyelogenousK-56230.5
Leukemia_promyelocytic-HL-6031.05
Leukemialymphoblastic(MOLT-4)26.8
Liver61.8
Lung36.7
Lymphnode36.5
Lymphoma_burkitts(Daudi)45.7
Lymphoma_burkitts(Raji)47.75
MedullaOblongata31.15
OccipitalLobe29.8
OlfactoryBulb27.3
Ovary50.1
Pancreas25.4
PancreaticIslet35.15
ParietalLobe39.8
Pituitary61.35
Placenta33.45
Pons43.75
PrefrontalCortex30.2
Prostate39.85
Salivarygland27.25
SkeletalMuscle40.4
Skin65.85
SmoothMuscle37.95
Spinalcord37.55
SubthalamicNucleus33.95
SuperiorCervicalGanglion55.05
TemporalLobe32.4
Testis32.15
TestisGermCell23.65
TestisIntersitial29.45
TestisLeydigCell37.3
TestisSeminiferousTubule22.9
Thalamus34.55
Thymus26.75
Thyroid41.75
Tongue41.5
Tonsil41.1
Trachea49.15
TrigeminalGanglion48.05
Uterus21.3
UterusCorpus51.55
WholeBlood36.55
Wholebrain27.1
colon33.5
pineal_day30.74
pineal_night27.68
retina35.8
small_intestine32.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9949_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
Amygdala2.19 ± 1.03
Basal Forebrain1.85 ± 0.45
Basal Part of Pons1.44 ± 0.34
Cerebellar Cortex1.75 ± 0.86
Cerebellar Nuclei2.07 ± 0.72
Claustrum2.75 ± 0.95
Epithalamus1.41 ± 0.78
Frontal Lobe1.71 ± 0.78
Globus Pallidus2.48 ± 0.54
Hypothalamus1.81 ± 0.66
Insula1.61 ± 0.45
Limbic Lobe1.75 ± 0.62
Mesencephalon2.03 ± 0.84
Myelencephalon1.85 ± 0.71
Occipital Lobe1.88 ± 0.65
Parietal Lobe1.85 ± 0.71
Pontine Tegmentum1.86 ± 0.63
Striatum1.9 ± 0.69
Subthalamus1.94 ± 0.79
Temporal Lobe1.75 ± 0.7
Thalamus2.04 ± 0.62
White Matter2.04 ± 0.12
Mouse Brain ISH
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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