AutismKB 2.0

Annotation Detail for GABRE


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Basic Information Top
Gene Symbol:GABRE ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, epsilon
Band: Xq28
Quick LinksEntrez ID:2564; OMIM: 300093; Uniprot ID:GBRE_HUMAN; ENSEMBL ID: ENSG00000102287; HGNC ID: 4085
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 
fetus25 / 56401244
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult126 / 193912164
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor8 / 11424670
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor7 / 10312767
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal127 / 336030737
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor22 / 90257243
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder3 / 29757100
blood0 / 1234780 
bone0 / 716550 
bone marrow3 / 4880161
brain13 / 110098911
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye5 / 21105423
heart4 / 8962644
intestine10 / 23447242
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung18 / 33697453
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth1 / 6705214
muscle5 / 10771546
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta48 / 280825170
prostate3 / 18934515
salivary gland0 / 201550 
skin17 / 21057480
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus25 / 232878107
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204537_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.65
Adipocyte3.85
AdrenalCortex4.1
Adrenalgland3.2
Amygdala3.95
Appendix3.95
AtrioventricularNode3.15
BDCA4+_DentriticCells4.15
Bonemarrow3.8
BronchialEpithelialCells3.75
CD105+_Endothelial3.85
CD14+_Monocytes4
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid4.85
CD34+4.75
CD4+_Tcells4.1
CD56+_NKCells4.55
CD71+_EarlyErythroid3.55
CD8+_Tcells3.6
CardiacMyocytes5
Caudatenucleus3.4
Cerebellum3.1
CerebellumPeduncles4.3
CiliaryGanglion2.75
CingulateCortex3.9
Colorectaladenocarcinoma3.8
DorsalRootGanglion3
FetalThyroid3.7
Fetalbrain3.75
Fetalliver3.35
Fetallung3.2
GlobusPallidus2.85
Heart5.25
Hypothalamus4.55
Kidney3.15
Leukemia_chronicMyelogenousK-5623.5
Leukemia_promyelocytic-HL-603.3
Leukemialymphoblastic(MOLT-4)3
Liver5
Lung4.1
Lymphnode3.25
Lymphoma_burkitts(Daudi)4.85
Lymphoma_burkitts(Raji)5.35
MedullaOblongata3.45
OccipitalLobe3.45
OlfactoryBulb3.25
Ovary2.55
Pancreas3.05
PancreaticIslet4.05
ParietalLobe4.05
Pituitary4.45
Placenta179.45
Pons3.6
PrefrontalCortex4.7
Prostate4.5
Salivarygland3.15
SkeletalMuscle4.45
Skin3
SmoothMuscle4.35
Spinalcord4.05
SubthalamicNucleus3.5
SuperiorCervicalGanglion4.7
TemporalLobe3.45
Testis3.2
TestisGermCell3.15
TestisIntersitial3.2
TestisLeydigCell3.85
TestisSeminiferousTubule3.25
Thalamus3.85
Thymus3
Thyroid4.75
Tongue4.8
Tonsil3.85
Trachea3.2
TrigeminalGanglion4.05
Uterus3.1
UterusCorpus8.2
WholeBlood4.1
Wholebrain3.15
colon3.8
pineal_day4.72
pineal_night4.62
retina4.575
small_intestine3.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_274_PI416408490
  • 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
Amygdala2.09 ± 1.03
Basal Forebrain2.12 ± 0.59
Basal Part of Pons1.15 ± 0.32
Cerebellar Cortex1.95 ± 0.8
Cerebellar Nuclei1.97 ± 0.82
Claustrum2.37 ± 0.82
Epithalamus1.37 ± 0.69
Frontal Lobe1.44 ± 0.67
Globus Pallidus2.13 ± 0.85
Hypothalamus1.94 ± 0.82
Insula1.79 ± 1.22
Limbic Lobe1.66 ± 0.74
Mesencephalon1.71 ± 0.8
Myelencephalon1.74 ± 0.79
Occipital Lobe1.79 ± 0.82
Parietal Lobe1.71 ± 0.87
Pontine Tegmentum1.87 ± 0.77
Striatum1.6 ± 0.69
Subthalamus2.4 ± 1.62
Temporal Lobe1.61 ± 0.7
Thalamus1.56 ± 0.67
White Matter1.97 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GabreCBCerebellum2.42
4.07
GabreCTXCerebral cortex0.89
1.02
GabreHIPHippocampal region0.17
0.23
GabreHPFHippocampal formation0.21
0.19
GabreHYHypothalamus18.15
11.23
GabreLSXLateral septal complex2.69
1.33
GabreMBMidbrain2.69
3.15
GabreMYMedulla3.36
3.41
GabreOLFOlfactory bulb0.72
0.91
GabrePPons5.79
6.18
GabrePALPallidum3.63
2.35
GabreRHPRetrohippocampal region0.25
0.15
GabresAMYStriatum-like amygdalar nuclei7.59
4.62
GabreSTRStriatum1.17
0.72
GabreSTRdStriatum dorsal region0.21
0.19
GabreSTRvStriatum ventral region0.26
0.12
GabreTHThalamus2
2.94
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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