AutismKB 2.0

Annotation Detail for GABRG2


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Basic Information Top
Gene Symbol:GABRG2 ( CAE2,ECA2,GEFSP3 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, gamma 2
Band: 5q34
Quick LinksEntrez ID:2566; OMIM: 137164; Uniprot ID:GBRG2_HUMAN; ENSEMBL ID: ENSG00000113327; HGNC ID: 4087
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 
fetus20 / 56401235
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult29 / 193912114
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor8 / 68959116
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal294 / 336030787
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 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 gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain298 / 1100989270
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye11 / 21105452
heart0 / 896260 
intestine0 / 2344720 
kidney8 / 21177737
larynx2 / 2414582
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve2 / 15768126
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
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: 206849_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.45
Adipocyte4.65
AdrenalCortex5.05
Adrenalgland4.05
Amygdala12.65
Appendix5.65
AtrioventricularNode3.7
BDCA4+_DentriticCells4.95
Bonemarrow4.75
BronchialEpithelialCells4.6
CD105+_Endothelial4.4
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)4.8
CD33+_Myeloid5.7
CD34+5.45
CD4+_Tcells4.85
CD56+_NKCells5.3
CD71+_EarlyErythroid4.35
CD8+_Tcells4.2
CardiacMyocytes6.3
Caudatenucleus4.3
Cerebellum8.15
CerebellumPeduncles12.25
CiliaryGanglion3.8
CingulateCortex10
Colorectaladenocarcinoma4.75
DorsalRootGanglion3.7
FetalThyroid5.05
Fetalbrain4.8
Fetalliver4.2
Fetallung3.8
GlobusPallidus7.85
Heart6.5
Hypothalamus9.25
Kidney3.95
Leukemia_chronicMyelogenousK-5624.25
Leukemia_promyelocytic-HL-604.15
Leukemialymphoblastic(MOLT-4)3.7
Liver7.6
Lung5.2
Lymphnode4
Lymphoma_burkitts(Daudi)6.1
Lymphoma_burkitts(Raji)6.8
MedullaOblongata17.45
OccipitalLobe68.25
OlfactoryBulb3.7
Ovary4.95
Pancreas3.85
PancreaticIslet5.1
ParietalLobe17.65
Pituitary6.55
Placenta4.55
Pons10.2
PrefrontalCortex24.5
Prostate5.35
Salivarygland3.8
SkeletalMuscle5.65
Skin3.8
SmoothMuscle5.2
Spinalcord4.95
SubthalamicNucleus15.6
SuperiorCervicalGanglion11.35
TemporalLobe12.25
Testis4.75
TestisGermCell3.9
TestisIntersitial4
TestisLeydigCell4.8
TestisSeminiferousTubule4.1
Thalamus8.45
Thymus3.65
Thyroid5.85
Tongue4.8
Tonsil4.6
Trachea3.95
TrigeminalGanglion7.85
Uterus3.85
UterusCorpus4.25
WholeBlood5.1
Wholebrain13.65
colon4.8
pineal_day366.54
pineal_night296.62
retina6.5
small_intestine4.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P25514
  • 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
Amygdala10.68 ± 0.43
Basal Forebrain10.5 ± 0.33
Basal Part of Pons10.92 ± 0.36
Cerebellar Cortex11.06 ± 0.14
Cerebellar Nuclei11.28 ± 0.56
Claustrum10.5 ± 0.38
Epithalamus9.72 ± 0.95
Frontal Lobe11.02 ± 0.44
Globus Pallidus9.63 ± 0.71
Hypothalamus11.4 ± 0.29
Insula11 ± 0.19
Limbic Lobe10.68 ± 0.73
Mesencephalon10.69 ± 0.67
Myelencephalon10.67 ± 0.75
Occipital Lobe10.59 ± 0.68
Parietal Lobe11.09 ± 0.63
Pontine Tegmentum10.95 ± 0.68
Striatum9.67 ± 0.77
Subthalamus11.38 ± 0.44
Temporal Lobe10.88 ± 0.37
Thalamus10.58 ± 0.46
White Matter7.93 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gabrg2CBCerebellum65.71
82.89
Gabrg2CTXCerebral cortex92.15
88.17
Gabrg2HIPHippocampal region80.18
88.46
Gabrg2HPFHippocampal formation82.96
85.77
Gabrg2HYHypothalamus85.84
85.74
Gabrg2LSXLateral septal complex57.1
54.4
Gabrg2MBMidbrain81.67
84.91
Gabrg2MYMedulla65.58
68.66
Gabrg2OLFOlfactory bulb95.75
98.96
Gabrg2PPons71.46
74.91
Gabrg2PALPallidum75.77
86.91
Gabrg2RHPRetrohippocampal region86.6
82.07
Gabrg2sAMYStriatum-like amygdalar nuclei74.41
75.41
Gabrg2STRStriatum57.47
53.99
Gabrg2STRdStriatum dorsal region53.39
43.26
Gabrg2STRvStriatum ventral region63.52
60.75
Gabrg2THThalamus57.29
56.4
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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