AutismKB 2.0

Annotation Detail for GABRA6


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Basic Information Top
Gene Symbol:GABRA6 ( MGC116903,MGC116904 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 6
Band: 5q34
Quick LinksEntrez ID:2559; OMIM: 137143; Uniprot ID:GBRA6_HUMAN; ENSEMBL ID: ENSG00000145863; HGNC ID: 4080
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult9 / 19391214
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-neoplasia0 / 972500 
normal122 / 336030736
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain115 / 1100989104
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
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 
testis1 / 3304423
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: 207182_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.9
Adipocyte5.85
AdrenalCortex6.9
Adrenalgland5.25
Amygdala6.15
Appendix8
AtrioventricularNode5.3
BDCA4+_DentriticCells6.3
Bonemarrow6.45
BronchialEpithelialCells5.8
CD105+_Endothelial6.05
CD14+_Monocytes6.4
CD19+_BCells(neg._sel.)6.15
CD33+_Myeloid7.6
CD34+7.55
CD4+_Tcells6.4
CD56+_NKCells7
CD71+_EarlyErythroid5.75
CD8+_Tcells5.8
CardiacMyocytes8.65
Caudatenucleus5.45
Cerebellum49
CerebellumPeduncles263.65
CiliaryGanglion4.85
CingulateCortex6.25
Colorectaladenocarcinoma6.05
DorsalRootGanglion5
FetalThyroid5.9
Fetalbrain6
Fetalliver5.35
Fetallung4.85
GlobusPallidus4.6
Heart8.95
Hypothalamus6.4
Kidney5.2
Leukemia_chronicMyelogenousK-5625.5
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)4.9
Liver8.7
Lung6.65
Lymphnode5.1
Lymphoma_burkitts(Daudi)7.85
Lymphoma_burkitts(Raji)8.85
MedullaOblongata5.5
OccipitalLobe5.4
OlfactoryBulb4.75
Ovary4.25
Pancreas4.95
PancreaticIslet6.45
ParietalLobe7.05
Pituitary7.05
Placenta6
Pons5.95
PrefrontalCortex7.5
Prostate7
Salivarygland4.95
SkeletalMuscle8.15
Skin5
SmoothMuscle6.8
Spinalcord6.45
SubthalamicNucleus5.7
SuperiorCervicalGanglion8.1
TemporalLobe5.7
Testis5.2
TestisGermCell4.8
TestisIntersitial5.05
TestisLeydigCell6
TestisSeminiferousTubule5.2
Thalamus6.2
Thymus4.65
Thyroid7.3
Tongue6.25
Tonsil5.9
Trachea5.05
TrigeminalGanglion6.95
Uterus4.9
UterusCorpus5.7
WholeBlood6.55
Wholebrain4.95
colon6.1
pineal_day7.34
pineal_night7.3
retina7.3
small_intestine5.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9900_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
Amygdala2.31 ± 1.49
Basal Forebrain2.16 ± 0.84
Basal Part of Pons1.44 ± 0.51
Cerebellar Cortex3.63 ± 0.95
Cerebellar Nuclei2.17 ± 0.97
Claustrum2.99 ± 0.96
Epithalamus1.56 ± 1.43
Frontal Lobe1.63 ± 1.21
Globus Pallidus1.26 ± 0.68
Hypothalamus1.96 ± 0.96
Insula1.54 ± 0.93
Limbic Lobe2.07 ± 1.09
Mesencephalon2.24 ± 1.11
Myelencephalon2.09 ± 1.02
Occipital Lobe2.37 ± 1.32
Parietal Lobe2.26 ± 1.21
Pontine Tegmentum2.09 ± 1.13
Striatum1.47 ± 1.17
Subthalamus2.16 ± 1.01
Temporal Lobe1.96 ± 1.28
Thalamus1.83 ± 0.93
White Matter1.47 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gabra6CBCerebellum62.35
65.94
Gabra6CTXCerebral cortex2.75
2.99
Gabra6HIPHippocampal region2.1
1.93
Gabra6HPFHippocampal formation2.2
1.91
Gabra6HYHypothalamus0.78
0.88
Gabra6LSXLateral septal complex0.65
0.76
Gabra6MBMidbrain0.84
1.14
Gabra6MYMedulla3.9
4.25
Gabra6OLFOlfactory bulb4.3
3.49
Gabra6PPons1.41
1.65
Gabra6PALPallidum0.66
0.67
Gabra6RHPRetrohippocampal region2.11
1.66
Gabra6sAMYStriatum-like amygdalar nuclei0.95
0.71
Gabra6STRStriatum0.96
1.12
Gabra6STRdStriatum dorsal region1.06
1.32
Gabra6STRvStriatum ventral region0.64
0.61
Gabra6THThalamus1.5
1.55
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GBRA6_HUMAN_25 10 25 34 GNFYSENVSR PRIDE

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