AutismKB 2.0

Annotation Detail for GABRD


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GABRD ( EIG10,EJM7,GEFSP5,MGC45284 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, delta
Band: 1p36.33
Quick LinksEntrez ID:2563; OMIM: 137163; Uniprot ID:GBRD_HUMAN; ENSEMBL ID: ENSG00000187730; HGNC ID: 4084
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 
adult22 / 193912111
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 tumor2 / 2638457
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal87 / 336030725
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain87 / 110098979
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart2 / 8962622
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas1 / 2148124
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: 208457_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.2
Adipocyte3.3
AdrenalCortex3.45
Adrenalgland2.8
Amygdala26.15
Appendix3.3
AtrioventricularNode2.6
BDCA4+_DentriticCells3.7
Bonemarrow3.25
BronchialEpithelialCells3.3
CD105+_Endothelial3.4
CD14+_Monocytes3.55
CD19+_BCells(neg._sel.)3.6
CD33+_Myeloid4.3
CD34+4.25
CD4+_Tcells3.7
CD56+_NKCells4.6
CD71+_EarlyErythroid3.2
CD8+_Tcells3.3
CardiacMyocytes4.2
Caudatenucleus19.95
Cerebellum508.25
CerebellumPeduncles649.7
CiliaryGanglion2.35
CingulateCortex7
Colorectaladenocarcinoma3.3
DorsalRootGanglion2.5
FetalThyroid3.25
Fetalbrain3.35
Fetalliver2.85
Fetallung2.75
GlobusPallidus11.75
Heart8.9
Hypothalamus3.8
Kidney2.7
Leukemia_chronicMyelogenousK-5623
Leukemia_promyelocytic-HL-602.95
Leukemialymphoblastic(MOLT-4)2.7
Liver4.35
Lung3.7
Lymphnode2.85
Lymphoma_burkitts(Daudi)4.7
Lymphoma_burkitts(Raji)4.6
MedullaOblongata23.85
OccipitalLobe26.8
OlfactoryBulb2.65
Ovary2.2
Pancreas2.65
PancreaticIslet3.5
ParietalLobe10.1
Pituitary4.2
Placenta3.4
Pons10.45
PrefrontalCortex29.05
Prostate3.9
Salivarygland2.6
SkeletalMuscle3.75
Skin2.55
SmoothMuscle3.8
Spinalcord3.55
SubthalamicNucleus14.55
SuperiorCervicalGanglion3.7
TemporalLobe37.6
Testis2.85
TestisGermCell2.8
TestisIntersitial2.75
TestisLeydigCell3.45
TestisSeminiferousTubule2.9
Thalamus7.4
Thymus2.65
Thyroid4.15
Tongue3.3
Tonsil3.25
Trachea2.8
TrigeminalGanglion3.45
Uterus2.75
UterusCorpus2.95
WholeBlood3.65
Wholebrain227.25
colon3.4
pineal_day4.2
pineal_night4.1
retina4.05
small_intestine3.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P309720
  • 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
Amygdala5.56 ± 0.63
Basal Forebrain5.3 ± 0.99
Basal Part of Pons7.44 ± 0.53
Cerebellar Cortex6.55 ± 0.5
Cerebellar Nuclei4.59 ± 0.54
Claustrum4.52 ± 1.29
Epithalamus4.43 ± 0.86
Frontal Lobe5.97 ± 0.93
Globus Pallidus2.64 ± 0.66
Hypothalamus4.28 ± 0.96
Insula5.78 ± 0.53
Limbic Lobe5.08 ± 1.1
Mesencephalon4.87 ± 0.8
Myelencephalon5.37 ± 1.24
Occipital Lobe4.68 ± 1.25
Parietal Lobe5.67 ± 1
Pontine Tegmentum5.12 ± 0.66
Striatum4.46 ± 1.01
Subthalamus4.31 ± 0.98
Temporal Lobe5.74 ± 0.8
Thalamus6.13 ± 0.79
White Matter2.29 ± 0.69
Mouse Brain ISH
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved