Hs03660221_cn

• Gene Symbol: SOX17
• Assay Reference Genome Location: Chr.8:54459517 on build GRCh38
• Cytoband: 8q11.23

Target Gene Details

• Entrez Gene ID: 64321
• Gene Name: SRY-box 17
• Gene Aliases: VUR3
• Location: Chr.8:54457935-54460896 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SOX17	NM_022454.3	2	971	NP_071899.1
	AB073988.1	2	770	BAB83867.1
	AK025905.1	2	971	BAB15277.1
	BC111770.1			AAI11771.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv438055	Chr.8:54452024 - 54461327 on Build GRCh38	Loss	SOX17

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

HMG box transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
angiogenesis
vasculogenesis
endoderm formation
inner cell mass cellular morphogenesis
heart looping
cardiogenic plate morphogenesis
embryonic heart tube morphogenesis
outflow tract morphogenesis
negative regulation of Wnt signaling pathway involved in heart development
regulation of transcription, DNA-templated
spermatogenesis
endodermal cell fate determination
rostrocaudal neural tube patterning
signal transduction involved in regulation of gene expression
negative regulation of cell growth
protein destabilization
embryonic heart tube development
cell migration involved in gastrulation
negative regulation of mesodermal cell fate specification
mRNA transcription from RNA polymerase II promoter
positive regulation of cell differentiation
positive regulation of protein catabolic process
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
regulation of embryonic development
embryonic foregut morphogenesis
positive regulation of skeletal muscle tissue development
stem cell fate specification
protein stabilization
canonical Wnt signaling pathway
endocardium formation
regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification
cardiac cell fate determination
heart formation
endocardial cell differentiation
common bile duct development
gall bladder development
endodermal digestive tract morphogenesis
renal system development
regulation of stem cell proliferation
negative regulation of canonical Wnt signaling pathway
regulation of stem cell division
regulation of cardiac cell fate specification

Function(s)

transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
transcription coactivator activity
protein binding
beta-catenin binding
transcription factor binding
sequence-specific DNA binding
transcription regulatory region DNA binding
protein heterodimerization activity