AutismKB 2.0

Annotation Detail for TBX1


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Basic Information Top
Gene Symbol:TBX1 ( CAFS,CTHM,DGCR,DGS,DORV,TBX1C,TGA,VCFS )
Gene Full Name: T-box 1
Band: 22q11.21
Quick LinksEntrez ID:6899; OMIM: 602054; Uniprot ID:TBX1_HUMAN; ENSEMBL ID: ENSG00000184058; HGNC ID: 11592
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 
fetus3 / 5640125
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 tumor1 / 2638453
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal6 / 33603071
ovarian tumor1 / 7668213
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 marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung8 / 33697423
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
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: 211273_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.1
Adipocyte6.05
AdrenalCortex7.25
Adrenalgland5.4
Amygdala6.15
Appendix7.25
AtrioventricularNode5.6
BDCA4+_DentriticCells6.3
Bonemarrow6.45
BronchialEpithelialCells5.95
CD105+_Endothelial6.05
CD14+_Monocytes6.5
CD19+_BCells(neg._sel.)6.3
CD33+_Myeloid7.5
CD34+7.4
CD4+_Tcells6.45
CD56+_NKCells6.95
CD71+_EarlyErythroid5.85
CD8+_Tcells5.7
CardiacMyocytes9.5
Caudatenucleus5.5
Cerebellum5
CerebellumPeduncles7.3
CiliaryGanglion5
CingulateCortex6.45
Colorectaladenocarcinoma6.05
DorsalRootGanglion5.25
FetalThyroid5.95
Fetalbrain5.9
Fetalliver5.4
Fetallung4.75
GlobusPallidus4.8
Heart9.2
Hypothalamus6.5
Kidney5.35
Leukemia_chronicMyelogenousK-56233.8
Leukemia_promyelocytic-HL-605.4
Leukemialymphoblastic(MOLT-4)4.75
Liver9.15
Lung6.65
Lymphnode5.05
Lymphoma_burkitts(Daudi)8.1
Lymphoma_burkitts(Raji)9.25
MedullaOblongata5.5
OccipitalLobe5.4
OlfactoryBulb4.85
Ovary4.35
Pancreas5.1
PancreaticIslet6.6
ParietalLobe6.75
Pituitary7.05
Placenta6.15
Pons6
PrefrontalCortex7.5
Prostate7.1
Salivarygland5.1
SkeletalMuscle8.6
Skin5.3
SmoothMuscle6.95
Spinalcord6.55
SubthalamicNucleus5.8
SuperiorCervicalGanglion8.75
TemporalLobe5.7
Testis5.25
TestisGermCell5
TestisIntersitial5.15
TestisLeydigCell6.2
TestisSeminiferousTubule5.25
Thalamus6.4
Thymus4.6
Thyroid7.5
Tongue6.55
Tonsil6.05
Trachea5.1
TrigeminalGanglion7.05
Uterus4.95
UterusCorpus5.9
WholeBlood6.65
Wholebrain4.95
colon6.15
pineal_day7.52
pineal_night7.4
retina7.425
small_intestine5.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15104_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
Amygdala2.92 ± 1.1
Basal Forebrain2.22 ± 0.22
Basal Part of Pons2.16 ± 0.56
Cerebellar Cortex2.17 ± 0.87
Cerebellar Nuclei2.61 ± 0.89
Claustrum3.23 ± 0.96
Epithalamus1.94 ± 0.74
Frontal Lobe2.11 ± 0.56
Globus Pallidus2.78 ± 0.25
Hypothalamus2.33 ± 0.69
Insula2.02 ± 0.45
Limbic Lobe2.35 ± 0.87
Mesencephalon2.45 ± 0.77
Myelencephalon2.33 ± 0.69
Occipital Lobe2.43 ± 0.93
Parietal Lobe2.3 ± 0.87
Pontine Tegmentum2.37 ± 0.75
Striatum2.44 ± 0.59
Subthalamus2.39 ± 0.66
Temporal Lobe2.19 ± 0.62
Thalamus2.25 ± 0.62
White Matter2.98 ± 0.63
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