======= TBX1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: TBX1
  * **<color #00a2e8>Official Name</color>**: T-box transcription factor 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6899|6899]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O43435|O43435]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=TBX1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TBX1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/602054|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity). {ECO:0000250}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|T-box|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of tongue muscle cell differentiation|
|regulation of tongue muscle cell differentiation|
|mesenchymal cell apoptotic process|
|vagus nerve morphogenesis|
|positive regulation of skeletal muscle fiber differentiation|
|vagus nerve development|
|regulation of skeletal muscle fiber differentiation|
|soft palate development|
|positive regulation of skeletal muscle cell differentiation|
|parathyroid gland development|
|semicircular canal morphogenesis|
|tongue morphogenesis|
|coronary artery morphogenesis|
|outer ear morphogenesis|
|semicircular canal development|
|embryonic viscerocranium morphogenesis|
|negative regulation of mesenchymal cell apoptotic process|
|enamel mineralization|
|regulation of mesenchymal cell apoptotic process|
|muscle cell fate commitment|
|tooth mineralization|
|retinoic acid receptor signaling pathway|
|coronary vasculature morphogenesis|
|preganglionic parasympathetic fiber development|
|regulation of skeletal muscle cell differentiation|
|parasympathetic nervous system development|
|middle ear morphogenesis|
|tongue development|
|amelogenesis|
|thyroid gland development|
|lymph vessel development|
|cochlea morphogenesis|
|secondary palate development|
|positive regulation of skeletal muscle tissue development|
|positive regulation of mesenchymal cell proliferation|
|pharyngeal system development|
|aorta morphogenesis|
|outflow tract septum morphogenesis|
|cranial nerve morphogenesis|
|positive regulation of myotube differentiation|
|face morphogenesis|
|regulation of mesenchymal cell proliferation|
|head morphogenesis|
|thymus development|
|autonomic nervous system development|
|embryonic cranial skeleton morphogenesis|
|body morphogenesis|
|coronary vasculature development|
|face development|
|regulation of skeletal muscle tissue development|
|cranial nerve development|
|aorta development|
|cochlea development|
|social behavior|
|intraspecies interaction between organisms|
|RNA polymerase II activating transcription factor binding|
|neural crest cell migration|
|regulation of myotube differentiation|
|positive regulation of striated muscle cell differentiation|
|heart looping|
|artery morphogenesis|
|embryonic heart tube morphogenesis|
|cranial skeletal system development|
|determination of heart left/right asymmetry|
|multi-organism behavior|
|positive regulation of muscle organ development|
|cellular response to retinoic acid|
|positive regulation of striated muscle tissue development|
|positive regulation of muscle tissue development|
|outflow tract morphogenesis|
|cardiac septum morphogenesis|
|embryonic heart tube development|
|neural crest cell development|
|nerve development|
|muscle tissue morphogenesis|
|odontogenesis of dentin-containing tooth|
|stem cell development|
|mesenchymal cell development|
|artery development|
|muscle organ morphogenesis|
|positive regulation of muscle cell differentiation|
|cell fate specification|
|neural crest cell differentiation|
|roof of mouth development|
|biomineralization|
|biomineral tissue development|
|embryonic skeletal system morphogenesis|
|inner ear morphogenesis|
|regulation of striated muscle cell differentiation|
|cellular response to fibroblast growth factor stimulus|
|response to retinoic acid|
|cardiac septum development|
|response to fibroblast growth factor|
|determination of left/right symmetry|
|ear morphogenesis|
|odontogenesis|
|endocrine system development|
|determination of bilateral symmetry|
|specification of symmetry|
|mesoderm development|
|embryonic skeletal system development|
|cardiac chamber morphogenesis|
|regulation of striated muscle tissue development|
|regulation of muscle tissue development|
|regulation of muscle organ development|
|sensory perception of sound|
|regulation of muscle cell differentiation|
|mesenchymal cell differentiation|
|stem cell differentiation|
|intracellular receptor signaling pathway|
|sensory perception of mechanical stimulus|
|cardiac chamber development|
|ameboidal-type cell migration|
|positive regulation of epithelial cell proliferation|
|inner ear development|
|cellular response to acid chemical|
|anterior/posterior pattern specification|
|ear development|
|mesenchyme development|
|skeletal system morphogenesis|
|muscle cell differentiation|
|cell fate commitment|
|heart morphogenesis|
|sensory organ morphogenesis|
|regulation of animal organ morphogenesis|
|embryonic organ morphogenesis|
|muscle organ development|
|epithelial tube morphogenesis|
|RNA polymerase II regulatory region sequence-specific DNA binding|
|angiogenesis|
|regionalization|
|regulation of epithelial cell proliferation|
|response to acid chemical|
|blood vessel morphogenesis|
|gland development|
|sequence-specific DNA binding|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|DNA-binding transcription activator activity, RNA polymerase II-specific|
|muscle structure development|
|blood vessel development|
|skeletal system development|
|cellular response to growth factor stimulus|
|vasculature development|
|cardiovascular system development|
|cellular response to lipid|
|heart development|
|response to growth factor|
|positive regulation of MAPK cascade|
|sensory organ development|
|cell population proliferation|
|tissue morphogenesis|
|embryonic morphogenesis|
|behavior|
|hematopoietic or lymphoid organ development|
|chordate embryonic development|
|immune system development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|DNA-binding transcription factor activity|
|epithelial cell differentiation|
|negative regulation of cell differentiation|
|regulation of MAPK cascade|
|head development|
|tube development|
|response to lipid|
|negative regulation of transcription by RNA polymerase II|
|circulatory system development|
|protein homodimerization activity|
|negative regulation of apoptotic process|
|anatomical structure formation involved in morphogenesis|
|negative regulation of programmed cell death|
|positive regulation of cell population proliferation|
|apoptotic process|
|negative regulation of developmental process|
|animal organ morphogenesis|
|cell migration|
|positive regulation of cell differentiation|
|sensory perception|
|embryo development|
|central nervous system development|
|negative regulation of cell death|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|programmed cell death|
|cellular response to oxygen-containing compound|
|positive regulation of phosphorylation|
|regulation of anatomical structure morphogenesis|
|localization of cell|
|cell motility|
|cell death|
|epithelium development|
|positive regulation of phosphorus metabolic process|
|positive regulation of phosphate metabolic process|
|negative regulation of transcription, DNA-templated|
|positive regulation of transcription by RNA polymerase II|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|locomotion|
|negative regulation of RNA metabolic process|
|positive regulation of developmental process|
|nervous system process|
|negative regulation of cellular macromolecule biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|regulation of protein phosphorylation|
|negative regulation of macromolecule biosynthetic process|
|response to endogenous stimulus|
|negative regulation of cellular biosynthetic process|
|positive regulation of transcription, DNA-templated|
|regulation of apoptotic process|
|negative regulation of biosynthetic process|
|movement of cell or subcellular component|
|response to oxygen-containing compound|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|regulation of programmed cell death|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|regulation of cell population proliferation|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|cell development|
|positive regulation of signal transduction|
|regulation of cell death|
|positive regulation of protein metabolic process|
|negative regulation of gene expression|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|tissue development|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|system process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp449|Arsenic trioxide 60μM R08 exp449]]|1.76|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 15143
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.1 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='TBX1 Expression in NALM6 Cells: -0.1'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>