AutismKB 2.0

Annotation Detail for GABRP


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Basic Information Top
Gene Symbol:GABRP ( MGC126386,MGC126387 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, pi
Band: 5q35.1
Quick LinksEntrez ID:2568; OMIM: 602729; Uniprot ID:GBRP_HUMAN; ENSEMBL ID: ENSG00000094755; HGNC ID: 4089
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 body17 / 70761240
blastocyst2 / 6231932
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult72 / 193912137
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) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor44 / 136302322
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor8 / 10312777
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal75 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor13 / 90257144
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 
brain1 / 11009890 
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine2 / 2344728
kidney1 / 2117774
larynx1 / 2414541
liver0 / 2077430 
lung16 / 33697447
lymph0 / 442700 
lymph node0 / 916100 
mammary gland27 / 153271176
mouth43 / 67052641
muscle6 / 10771555
nerve0 / 157680 
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta5 / 28082517
prostate5 / 18934526
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach11 / 96619113
testis4 / 33044212
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea24 / 52413457
umbilical cord0 / 136800 
uterus15 / 23287864
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205044_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.25
Adipocyte7.65
AdrenalCortex8.25
Adrenalgland6.7
Amygdala8.25
Appendix16.75
AtrioventricularNode6.5
BDCA4+_DentriticCells8.15
Bonemarrow8.35
BronchialEpithelialCells7.25
CD105+_Endothelial7.75
CD14+_Monocytes8.1
CD19+_BCells(neg._sel.)8.4
CD33+_Myeloid9.3
CD34+10
CD4+_Tcells8.6
CD56+_NKCells9.1
CD71+_EarlyErythroid7.35
CD8+_Tcells7.6
CardiacMyocytes9.95
Caudatenucleus7.05
Cerebellum6.35
CerebellumPeduncles9.35
CiliaryGanglion5.6
CingulateCortex8.05
Colorectaladenocarcinoma7.8
DorsalRootGanglion7.25
FetalThyroid7.6
Fetalbrain7.9
Fetalliver6.85
Fetallung6.35
GlobusPallidus6.15
Heart15.4
Hypothalamus8.6
Kidney6.7
Leukemia_chronicMyelogenousK-5627.1
Leukemia_promyelocytic-HL-606.95
Leukemialymphoblastic(MOLT-4)6.2
Liver10.4
Lung8.7
Lymphnode6.8
Lymphoma_burkitts(Daudi)10.05
Lymphoma_burkitts(Raji)11.55
MedullaOblongata9.65
OccipitalLobe7
OlfactoryBulb6.25
Ovary6.5
Pancreas6.3
PancreaticIslet8.4
ParietalLobe8.75
Pituitary9.15
Placenta7.5
Pons7.85
PrefrontalCortex9.85
Prostate9.3
Salivarygland6.45
SkeletalMuscle9.65
Skin14.95
SmoothMuscle8.85
Spinalcord7.9
SubthalamicNucleus7.15
SuperiorCervicalGanglion10.3
TemporalLobe7.3
Testis6.75
TestisGermCell6.6
TestisIntersitial6.55
TestisLeydigCell8
TestisSeminiferousTubule6.8
Thalamus8.1
Thymus6.25
Thyroid9.9
Tongue8
Tonsil29.15
Trachea21.55
TrigeminalGanglion17.7
Uterus24.05
UterusCorpus7.6
WholeBlood8.6
Wholebrain6.8
colon7.95
pineal_day9.66
pineal_night9.44
retina9.5
small_intestine7.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9812_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
Amygdala2.06 ± 1.29
Basal Forebrain1.32 ± 0.19
Basal Part of Pons1.1 ± 0.38
Cerebellar Cortex1.37 ± 0.77
Cerebellar Nuclei1.65 ± 0.73
Claustrum2.31 ± 0.87
Epithalamus1.18 ± 0.64
Frontal Lobe1.22 ± 0.56
Globus Pallidus1.97 ± 0.37
Hypothalamus1.73 ± 0.88
Insula1.37 ± 0.56
Limbic Lobe1.43 ± 0.64
Mesencephalon1.57 ± 0.71
Myelencephalon1.45 ± 0.66
Occipital Lobe1.53 ± 0.71
Parietal Lobe1.43 ± 0.7
Pontine Tegmentum1.44 ± 0.65
Striatum1.55 ± 0.53
Subthalamus1.47 ± 0.54
Temporal Lobe1.31 ± 0.58
Thalamus1.33 ± 0.55
White Matter1.88 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GabrpCBCerebellum1.42
2.14
GabrpCTXCerebral cortex1.24
0.77
GabrpHIPHippocampal region0.37
0.39
GabrpHPFHippocampal formation2.37
1.24
GabrpHYHypothalamus0.24
0.18
GabrpLSXLateral septal complex0.05
0.11
GabrpMBMidbrain0.8
0.74
GabrpMYMedulla1.42
1.63
GabrpOLFOlfactory bulb1.97
1.49
GabrpPPons1.11
1.32
GabrpPALPallidum1.81
0.86
GabrpRHPRetrohippocampal region4.46
1.89
GabrpsAMYStriatum-like amygdalar nuclei1.28
1.29
GabrpSTRStriatum1.48
0.8
GabrpSTRdStriatum dorsal region0.3
0.21
GabrpSTRvStriatum ventral region6.36
2.69
GabrpTHThalamus0.23
0.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GBRP_HUMAN_12 7 12 18 LSLFTER 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


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