AutismKB 2.0

Annotation Detail for GABPB1


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Basic Information Top
Gene Symbol:GABPB1 ( BABPB2,E4TF1,E4TF1-47,E4TF1-53,E4TF1B,GABPB,GABPB2,NRF2B1,NRF2B2 )
Gene Full Name: GA binding protein transcription factor, beta subunit 1
Band: 15q21.2
Quick LinksEntrez ID:2553; OMIM: 600610; Uniprot ID:GABP1_HUMAN; ENSEMBL ID: ENSG00000104064; HGNC ID: 4074
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 
blastocyst2 / 6231932
fetus13 / 56401223
neonate1 / 3109732
infant2 / 2362084
juvenile2 / 5555635
adult75 / 193912138
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) tumor4 / 9417842
cervical tumor3 / 3436687
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor17 / 26384564
glioma0 / 1068830 
head and neck tumor5 / 13630236
kidney tumor4 / 6895958
leukemia10 / 95842104
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal108 / 336030732
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor4 / 9025744
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 
blood5 / 12347840
bone4 / 7165555
bone marrow4 / 4880181
brain22 / 110098919
cervix3 / 4817162
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye6 / 21105428
heart2 / 8962622
intestine6 / 23447225
kidney5 / 21177723
larynx1 / 2414541
liver8 / 20774338
lung5 / 33697414
lymph0 / 442700 
lymph node14 / 91610152
mammary gland8 / 15327152
mouth3 / 6705244
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta12 / 28082542
prostate8 / 18934542
salivary gland0 / 201550 
skin6 / 21057428
spleen1 / 5395218
stomach3 / 9661931
testis11 / 33044233
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus13 / 23287855
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204618_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts91.05
Adipocyte10.8
AdrenalCortex13.75
Adrenalgland9.05
Amygdala10.65
Appendix24.3
AtrioventricularNode18
BDCA4+_DentriticCells26.05
Bonemarrow12.5
BronchialEpithelialCells10.95
CD105+_Endothelial65.2
CD14+_Monocytes21.25
CD19+_BCells(neg._sel.)86.35
CD33+_Myeloid22.35
CD34+75.05
CD4+_Tcells33.95
CD56+_NKCells43.35
CD71+_EarlyErythroid19.85
CD8+_Tcells28.45
CardiacMyocytes14.5
Caudatenucleus9.55
Cerebellum8.7
CerebellumPeduncles10.6
CiliaryGanglion10.45
CingulateCortex11.3
Colorectaladenocarcinoma11.15
DorsalRootGanglion11.9
FetalThyroid14.35
Fetalbrain13.2
Fetalliver19.45
Fetallung13.55
GlobusPallidus7.7
Heart13.85
Hypothalamus10.9
Kidney9
Leukemia_chronicMyelogenousK-56214.2
Leukemia_promyelocytic-HL-6011
Leukemialymphoblastic(MOLT-4)17.25
Liver15.8
Lung11.9
Lymphnode17
Lymphoma_burkitts(Daudi)31.9
Lymphoma_burkitts(Raji)18.05
MedullaOblongata8.55
OccipitalLobe8.1
OlfactoryBulb7.2
Ovary11.05
Pancreas9.05
PancreaticIslet10.85
ParietalLobe11.3
Pituitary12.25
Placenta11.55
Pons9.7
PrefrontalCortex12.05
Prostate18.5
Salivarygland9.05
SkeletalMuscle16.35
Skin12.25
SmoothMuscle12.55
Spinalcord10.15
SubthalamicNucleus10.15
SuperiorCervicalGanglion29.85
TemporalLobe9.9
Testis6.9
TestisGermCell7.9
TestisIntersitial9
TestisLeydigCell10.9
TestisSeminiferousTubule8.45
Thalamus9.7
Thymus13
Thyroid13.35
Tongue11.05
Tonsil13.9
Trachea10.35
TrigeminalGanglion11
Uterus9.35
UterusCorpus12.9
WholeBlood22.9
Wholebrain8.2
colon10.15
pineal_day15
pineal_night12.74
retina13.125
small_intestine11.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P205789
  • 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
Amygdala5.28 ± 0.46
Basal Forebrain5 ± 0.46
Basal Part of Pons4.82 ± 0.36
Cerebellar Cortex5.38 ± 0.25
Cerebellar Nuclei4.97 ± 0.49
Claustrum5.18 ± 0.48
Epithalamus5.15 ± 0.36
Frontal Lobe4.85 ± 0.41
Globus Pallidus5.51 ± 0.39
Hypothalamus4.77 ± 0.49
Insula5.07 ± 0.33
Limbic Lobe5.21 ± 0.54
Mesencephalon5.15 ± 0.43
Myelencephalon5.09 ± 0.44
Occipital Lobe5.47 ± 0.49
Parietal Lobe5.06 ± 0.45
Pontine Tegmentum5.07 ± 0.57
Striatum5.24 ± 0.49
Subthalamus5.36 ± 0.56
Temporal Lobe4.96 ± 0.4
Thalamus5.04 ± 0.35
White Matter6.46 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gabpb1CBCerebellum13.14
15.3
Gabpb1CTXCerebral cortex45.8
32.67
Gabpb1HIPHippocampal region26.63
28.13
Gabpb1HPFHippocampal formation30.48
27.9
Gabpb1HYHypothalamus34.56
26.33
Gabpb1LSXLateral septal complex37.48
24.89
Gabpb1MBMidbrain21.39
17.66
Gabpb1MYMedulla24.83
25.77
Gabpb1OLFOlfactory bulb39.78
28.72
Gabpb1PPons20.99
19.49
Gabpb1PALPallidum26.37
20.7
Gabpb1RHPRetrohippocampal region37.15
27.84
Gabpb1sAMYStriatum-like amygdalar nuclei39.81
27.59
Gabpb1STRStriatum31.53
21.16
Gabpb1STRdStriatum dorsal region29.1
19.76
Gabpb1STRvStriatum ventral region33.31
20.98
Gabpb1THThalamus33.46
26.75
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GABP1_HUMAN_2 14 2 15 SLVDLGKKLLEAAR PRIDE
GABP1_HUMAN_366 14 366 379 QQLLKKEQEAEAYR 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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