Hs00814299_cn

• Gene Symbol: TWIST1
• Assay Reference Genome Location: Chr.7:19115689 on build GRCh38
• Cytoband: 7p21.1

Target Gene Details

• Entrez Gene ID: 7291
• Gene Name: twist family bHLH transcription factor 1
• Gene Aliases: ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, TWIST, bHLHa38
• Location: Chr.7:19113047-19117672 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TWIST1	NM_000474.3	2	1445	NP_000465.1
	XM_011515496.1			XP_011513798.1
	AW173505.1	1	238
	BC036704.2	2	1445	AAH36704.1
	X99268.1	2	1215	CAA67664.1
	Y11177.1	1	462

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3612462	Chr.7:19111202 - 19116559 on Build GRCh38	Loss	TWIST1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
ossification
osteoblast differentiation
in utero embryonic development
neuron migration
neural tube closure
aortic valve morphogenesis
mitral valve morphogenesis
endocardial cushion morphogenesis
cardiac neural crest cell migration involved in outflow tract morphogenesis
transcription, DNA-templated
muscle organ development
positive regulation of gene expression
positive regulation of epithelial to mesenchymal transition
negative regulation of phosphatidylinositol 3-kinase signaling
regulation of bone mineralization
positive regulation of fatty acid beta-oxidation
negative regulation of tumor necrosis factor production
positive regulation of tumor necrosis factor production
negative regulation of histone phosphorylation
negative regulation of histone acetylation
embryonic forelimb morphogenesis
embryonic hindlimb morphogenesis
negative regulation of peroxisome proliferator activated receptor signaling pathway
outer ear morphogenesis
odontogenesis
embryonic digit morphogenesis
negative regulation of apoptotic process
negative regulation of sequence-specific DNA binding transcription factor activity
negative regulation of DNA damage response, signal transduction by p53 class mediator
negative regulation of osteoblast differentiation
positive regulation of angiogenesis
negative regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
rhythmic process
negative regulation of skeletal muscle tissue development
embryonic cranial skeleton morphogenesis
positive regulation of epithelial cell proliferation
palate development
cranial suture morphogenesis
embryonic camera-type eye formation
eyelid development in camera-type eye
cellular response to growth factor stimulus
cellular response to hypoxia
positive regulation of monocyte chemotactic protein-1 production
positive regulation of DNA-templated transcription, initiation
positive regulation of cell motility
negative regulation of oxidative phosphorylation uncoupler activity
positive regulation of transcription regulatory region DNA binding
negative regulation of cellular senescence
positive regulation of interleukin-6 secretion
negative regulation of double-strand break repair
cell proliferation involved in heart valve development
positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation

Function(s)

RNA polymerase II transcription factor activity, sequence-specific DNA binding
protein binding
transcription factor binding
protein domain specific binding
protein homodimerization activity
bHLH transcription factor binding
protein heterodimerization activity
E-box binding