AutismKB 2.0

Annotation Detail for GABRA4


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Basic Information Top
Gene Symbol:GABRA4 ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 4
Band: 4p12
Quick LinksEntrez ID:2557; OMIM: 137141; Uniprot ID:GBRA4_HUMAN; ENSEMBL ID: ENSG00000109158; HGNC ID: 4078
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 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult11 / 19391215
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 tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal24 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
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 
brain32 / 110098929
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
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
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208463_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.25
Adipocyte3.4
AdrenalCortex3.5
Adrenalgland2.85
Amygdala3.65
Appendix3.8
AtrioventricularNode2.6
BDCA4+_DentriticCells3.9
Bonemarrow3.35
BronchialEpithelialCells3.45
CD105+_Endothelial3.5
CD14+_Monocytes3.6
CD19+_BCells(neg._sel.)3.7
CD33+_Myeloid4.35
CD34+4.4
CD4+_Tcells3.8
CD56+_NKCells4.15
CD71+_EarlyErythroid3.15
CD8+_Tcells3.4
CardiacMyocytes4.25
Caudatenucleus4.6
Cerebellum2.8
CerebellumPeduncles3.85
CiliaryGanglion2.35
CingulateCortex3.5
Colorectaladenocarcinoma3.45
DorsalRootGanglion2.8
FetalThyroid3.4
Fetalbrain3.45
Fetalliver2.85
Fetallung2.9
GlobusPallidus2.5
Heart4.4
Hypothalamus3.8
Kidney2.75
Leukemia_chronicMyelogenousK-5623.15
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)2.8
Liver4.45
Lung3.8
Lymphnode3
Lymphoma_burkitts(Daudi)4.35
Lymphoma_burkitts(Raji)4.8
MedullaOblongata3.15
OccipitalLobe3.5
OlfactoryBulb2.7
Ovary2.25
Pancreas2.75
PancreaticIslet3.7
ParietalLobe3.7
Pituitary4
Placenta3.6
Pons3.3
PrefrontalCortex4.35
Prostate4.1
Salivarygland2.7
SkeletalMuscle4.1
Skin2.7
SmoothMuscle3.9
Spinalcord3.65
SubthalamicNucleus3.05
SuperiorCervicalGanglion4.2
TemporalLobe3.15
Testis3
TestisGermCell2.95
TestisIntersitial2.9
TestisLeydigCell3.35
TestisSeminiferousTubule2.95
Thalamus3.45
Thymus2.8
Thyroid4.3
Tongue3.65
Tonsil3.35
Trachea2.9
TrigeminalGanglion3.65
Uterus2.8
UterusCorpus3.2
WholeBlood3.8
Wholebrain3
colon3.45
pineal_day4.28
pineal_night4.22
retina4.175
small_intestine3.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_111_PI417557136
  • 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
Amygdala5.55 ± 0.32
Basal Forebrain5.23 ± 0.62
Basal Part of Pons4.62 ± 0.31
Cerebellar Cortex4.33 ± 0.53
Cerebellar Nuclei3.77 ± 0.42
Claustrum5.3 ± 0.47
Epithalamus4.04 ± 1.39
Frontal Lobe5.18 ± 0.63
Globus Pallidus3.14 ± 1.46
Hypothalamus4.47 ± 0.63
Insula5.36 ± 0.58
Limbic Lobe5.13 ± 0.66
Mesencephalon5.07 ± 1.11
Myelencephalon5.02 ± 0.9
Occipital Lobe5.59 ± 0.61
Parietal Lobe5.17 ± 0.72
Pontine Tegmentum4.91 ± 0.54
Striatum6.07 ± 0.61
Subthalamus4.09 ± 0.89
Temporal Lobe5.14 ± 0.55
Thalamus5.42 ± 0.57
White Matter2.6 ± 1.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gabra4CBCerebellum1.41
1.58
Gabra4CTXCerebral cortex28.43
16.03
Gabra4HIPHippocampal region16.66
26.33
Gabra4HPFHippocampal formation15.48
17.89
Gabra4HYHypothalamus2.23
2.42
Gabra4LSXLateral septal complex6.16
3.46
Gabra4MBMidbrain2.65
2.25
Gabra4MYMedulla4.01
4.97
Gabra4OLFOlfactory bulb15.59
9.7
Gabra4PPons1.62
1.99
Gabra4PALPallidum2.86
1.94
Gabra4RHPRetrohippocampal region14.45
9.56
Gabra4sAMYStriatum-like amygdalar nuclei4.63
3.01
Gabra4STRStriatum52.7
31.85
Gabra4STRdStriatum dorsal region68.8
42.77
Gabra4STRvStriatum ventral region41.1
22.46
Gabra4THThalamus86.84
93.35
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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