AutismKB 2.0

Annotation Detail for GABRA5


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Basic Information Top
Gene Symbol:GABRA5 ( MGC138184 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 5
Band: 15q12
Quick LinksEntrez ID:2558; OMIM: 137142; Uniprot ID:GBRA5_HUMAN; ENSEMBL ID: ENSG00000186297; HGNC ID: 4079
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 
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult5 / 19391212
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 tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal86 / 336030725
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
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 
brain101 / 110098991
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine0 / 2344720 
kidney4 / 21177718
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 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus3 / 8113136
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: 217280_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.3
Adipocyte6.35
AdrenalCortex7.35
Adrenalgland5.85
Amygdala14.55
Appendix8.7
AtrioventricularNode6.45
BDCA4+_DentriticCells6.85
Bonemarrow7.55
BronchialEpithelialCells6.2
CD105+_Endothelial6.8
CD14+_Monocytes7.05
CD19+_BCells(neg._sel.)7.1
CD33+_Myeloid8.5
CD34+8.05
CD4+_Tcells6.8
CD56+_NKCells7.85
CD71+_EarlyErythroid6.4
CD8+_Tcells6.15
CardiacMyocytes9.25
Caudatenucleus6.15
Cerebellum5.8
CerebellumPeduncles7.9
CiliaryGanglion5.25
CingulateCortex7.05
Colorectaladenocarcinoma6.8
DorsalRootGanglion6.4
FetalThyroid6.6
Fetalbrain6.8
Fetalliver11
Fetallung5.4
GlobusPallidus5.1
Heart11.35
Hypothalamus7.35
Kidney5.65
Leukemia_chronicMyelogenousK-5625.9
Leukemia_promyelocytic-HL-605.95
Leukemialymphoblastic(MOLT-4)5.35
Liver13.1
Lung7.45
Lymphnode5.55
Lymphoma_burkitts(Daudi)8.7
Lymphoma_burkitts(Raji)9.85
MedullaOblongata6.15
OccipitalLobe6.45
OlfactoryBulb5.3
Ovary4.6
Pancreas5.45
PancreaticIslet7.25
ParietalLobe7.45
Pituitary8
Placenta6.8
Pons7.9
PrefrontalCortex8.6
Prostate7.8
Salivarygland5.55
SkeletalMuscle9.55
Skin6.1
SmoothMuscle7.6
Spinalcord7.3
SubthalamicNucleus6.25
SuperiorCervicalGanglion10.55
TemporalLobe6.25
Testis5.9
TestisGermCell5.45
TestisIntersitial5.75
TestisLeydigCell7
TestisSeminiferousTubule5.8
Thalamus6.9
Thymus4.9
Thyroid8.25
Tongue7
Tonsil6.1
Trachea5.7
TrigeminalGanglion9.2
Uterus5.55
UterusCorpus6.85
WholeBlood7.35
Wholebrain11.6
colon6.9
pineal_day11.54
pineal_night13.9
retina8.2
small_intestine6.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14341_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
Amygdala7.92 ± 1.13
Basal Forebrain7.51 ± 1.09
Basal Part of Pons7 ± 0.52
Cerebellar Cortex6.22 ± 0.76
Cerebellar Nuclei5.22 ± 1.07
Claustrum8.59 ± 0.56
Epithalamus6.14 ± 1.14
Frontal Lobe7.89 ± 0.88
Globus Pallidus5.15 ± 2.5
Hypothalamus7.22 ± 0.92
Insula8.47 ± 0.37
Limbic Lobe8.76 ± 1.03
Mesencephalon6.94 ± 0.82
Myelencephalon7.3 ± 0.91
Occipital Lobe6.28 ± 1.17
Parietal Lobe7.2 ± 1.07
Pontine Tegmentum7.73 ± 1
Striatum7.85 ± 1.45
Subthalamus5.57 ± 0.62
Temporal Lobe8.16 ± 0.78
Thalamus7.51 ± 0.73
White Matter5.34 ± 1.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gabra5sAMYStriatum-like amygdalar nuclei21.57
18.76
Gabra5STRdStriatum dorsal region9.87
9.63
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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