AutismKB 2.0

Annotation Detail for GATA1


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Basic Information Top
Gene Symbol:GATA1 ( ERYF1,GATA-1,GF-1,GF1,NFE1,XLTT )
Gene Full Name: GATA binding protein 1 (globin transcription factor 1)
Band: Xp11.23
Quick LinksEntrez ID:2623; OMIM: 305371; Uniprot ID:GATA1_HUMAN; ENSEMBL ID: ENSG00000102145; HGNC ID: 4170
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 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult4 / 19391212
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 
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal17 / 33603075
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow7 / 48801143
brain0 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland1 / 2015549
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
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: 210446_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.15
Adipocyte3.25
AdrenalCortex3.4
Adrenalgland2.75
Amygdala3.45
Appendix3.3
AtrioventricularNode2.5
BDCA4+_DentriticCells3.7
Bonemarrow3.55
BronchialEpithelialCells3.25
CD105+_Endothelial268.1
CD14+_Monocytes3.5
CD19+_BCells(neg._sel.)3.5
CD33+_Myeloid4.25
CD34+97.7
CD4+_Tcells3.65
CD56+_NKCells3.95
CD71+_EarlyErythroid378.45
CD8+_Tcells3.25
CardiacMyocytes4.15
Caudatenucleus2.95
Cerebellum2.65
CerebellumPeduncles3.7
CiliaryGanglion2.35
CingulateCortex3.4
Colorectaladenocarcinoma3.3
DorsalRootGanglion2.5
FetalThyroid3.2
Fetalbrain3.3
Fetalliver2.85
Fetallung2.75
GlobusPallidus2.4
Heart4.15
Hypothalamus3.6
Kidney2.65
Leukemia_chronicMyelogenousK-56230.9
Leukemia_promyelocytic-HL-602.9
Leukemialymphoblastic(MOLT-4)2.65
Liver4.35
Lung3.6
Lymphnode2.85
Lymphoma_burkitts(Daudi)4.2
Lymphoma_burkitts(Raji)4.6
MedullaOblongata3.05
OccipitalLobe2.95
OlfactoryBulb2.6
Ovary2.2
Pancreas2.65
PancreaticIslet3.5
ParietalLobe3.45
Pituitary3.8
Placenta3.4
Pons3.1
PrefrontalCortex4.15
Prostate3.9
Salivarygland2.6
SkeletalMuscle3.75
Skin2.5
SmoothMuscle3.7
Spinalcord3.5
SubthalamicNucleus3
SuperiorCervicalGanglion3.8
TemporalLobe3
Testis2.8
TestisGermCell2.75
TestisIntersitial2.75
TestisLeydigCell3.25
TestisSeminiferousTubule2.8
Thalamus3.35
Thymus2.6
Thyroid4.15
Tongue3.2
Tonsil3.2
Trachea2.7
TrigeminalGanglion3.35
Uterus2.7
UterusCorpus2.95
WholeBlood3.65
Wholebrain2.8
colon3.3
pineal_day4.14
pineal_night4.04
retina4
small_intestine3.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16015_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
Amygdala2.11 ± 0.99
Basal Forebrain1.72 ± 0.42
Basal Part of Pons1.7 ± 0.62
Cerebellar Cortex1.66 ± 0.85
Cerebellar Nuclei2.12 ± 1.02
Claustrum2.51 ± 0.69
Epithalamus1.07 ± 0.93
Frontal Lobe1.65 ± 0.73
Globus Pallidus2.47 ± 0.99
Hypothalamus1.72 ± 0.87
Insula1.66 ± 0.53
Limbic Lobe1.86 ± 0.76
Mesencephalon1.79 ± 0.68
Myelencephalon1.86 ± 0.82
Occipital Lobe1.82 ± 0.82
Parietal Lobe1.83 ± 0.83
Pontine Tegmentum1.74 ± 0.85
Striatum1.79 ± 0.65
Subthalamus1.35 ± 0.83
Temporal Lobe1.74 ± 0.77
Thalamus1.76 ± 0.67
White Matter2.18 ± 0.19
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


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