AutismKB 2.0

Annotation Detail for GABRA1


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Basic Information Top
Gene Symbol:GABRA1 ( ECA4,EJM,EJM5 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 1
Band: 5q34
Quick LinksEntrez ID:2554; OMIM: 137160; Uniprot ID:GBRA1_HUMAN; ENSEMBL ID: ENSG00000022355; HGNC ID: 4075
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 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult15 / 19391217
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 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal234 / 336030769
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 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 gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain263 / 1100989238
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
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 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
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: 206678_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.1
Adipocyte5.05
AdrenalCortex5.35
Adrenalgland4.35
Amygdala82.75
Appendix5.4
AtrioventricularNode4
BDCA4+_DentriticCells5.25
Bonemarrow4.95
BronchialEpithelialCells4.95
CD105+_Endothelial4.95
CD14+_Monocytes5.2
CD19+_BCells(neg._sel.)5.15
CD33+_Myeloid6.35
CD34+6.35
CD4+_Tcells5.4
CD56+_NKCells5.85
CD71+_EarlyErythroid4.65
CD8+_Tcells4.6
CardiacMyocytes6.65
Caudatenucleus4.55
Cerebellum13.45
CerebellumPeduncles58.15
CiliaryGanglion3.6
CingulateCortex77.2
Colorectaladenocarcinoma5.05
DorsalRootGanglion3.95
FetalThyroid4.9
Fetalbrain5.1
Fetalliver4.35
Fetallung4.25
GlobusPallidus61.4
Heart6.65
Hypothalamus42.1
Kidney4.25
Leukemia_chronicMyelogenousK-5624.8
Leukemia_promyelocytic-HL-604.45
Leukemialymphoblastic(MOLT-4)4.1
Liver6.75
Lung5.55
Lymphnode4.4
Lymphoma_burkitts(Daudi)6.55
Lymphoma_burkitts(Raji)7.3
MedullaOblongata81.9
OccipitalLobe161.4
OlfactoryBulb3.95
Ovary3.4
Pancreas4.1
PancreaticIslet5.65
ParietalLobe137.2
Pituitary5.9
Placenta5.1
Pons25.4
PrefrontalCortex113.7
Prostate5.95
Salivarygland4.15
SkeletalMuscle9.6
Skin4
SmoothMuscle5.7
Spinalcord5.4
SubthalamicNucleus44.25
SuperiorCervicalGanglion6.3
TemporalLobe29.95
Testis5
TestisGermCell4.1
TestisIntersitial4.25
TestisLeydigCell5.1
TestisSeminiferousTubule4.25
Thalamus5.5
Thymus3.95
Thyroid6.25
Tongue5.05
Tonsil4.95
Trachea4.2
TrigeminalGanglion5.1
Uterus4
UterusCorpus5.1
WholeBlood5.5
Wholebrain132.6
colon5.05
pineal_day47.84
pineal_night58.18
retina6.075
small_intestine4.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_371_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
Amygdala2.59 ± 1.05
Basal Forebrain2.04 ± 0.21
Basal Part of Pons2.08 ± 0.7
Cerebellar Cortex2.7 ± 0.6
Cerebellar Nuclei2.48 ± 0.73
Claustrum3.02 ± 0.97
Epithalamus1.95 ± 0.71
Frontal Lobe2.05 ± 0.68
Globus Pallidus2.36 ± 0.56
Hypothalamus2.13 ± 0.69
Insula2.64 ± 1.48
Limbic Lobe2.37 ± 0.7
Mesencephalon2.42 ± 0.83
Myelencephalon2.26 ± 0.74
Occipital Lobe2.86 ± 0.78
Parietal Lobe2.26 ± 0.79
Pontine Tegmentum2.25 ± 0.7
Striatum1.97 ± 0.67
Subthalamus2.57 ± 0.27
Temporal Lobe2.07 ± 0.7
Thalamus2.19 ± 0.68
White Matter2.39 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gabra1CBCerebellum81.18
100
Gabra1CTXCerebral cortex100
100
Gabra1HIPHippocampal region68.55
100
Gabra1HPFHippocampal formation89.82
100
Gabra1HYHypothalamus74.29
78.77
Gabra1LSXLateral septal complex73.67
80.68
Gabra1MBMidbrain97.42
100
Gabra1MYMedulla35.81
57.25
Gabra1OLFOlfactory bulb84.65
100
Gabra1PPons55.81
81.11
Gabra1PALPallidum73.59
100
Gabra1RHPRetrohippocampal region100
100
Gabra1sAMYStriatum-like amygdalar nuclei63.68
81.84
Gabra1STRStriatum38.52
41.89
Gabra1STRdStriatum dorsal region29.75
29.43
Gabra1STRvStriatum ventral region36.83
38.34
Gabra1THThalamus89
99.99
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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