Hs03037749_cn

• Gene Symbol: FOXC1
• Assay Reference Genome Location: Chr.6:1611115 on build GRCh38
• Cytoband: 6p25.3

Target Gene Details

• Entrez Gene ID: 2296
• Gene Name: forkhead box C1
• Gene Aliases: ARA, FKHL7, FREAC-3, FREAC3, IGDA, IHG1, IRID1, RIEG3
• Location: Chr.6:1610446-1613897 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FOXC1	NM_001453.2	1	670	NP_001444.2
	BC134421.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1073531	Chr.6:1610764 - 1611765 on Build GRCh38	Deletion	FOXC1
dgv992n67	Chr.6:1589856 - 1629286 on Build GRCh38	Gain	GMDS FOXCUT FOXC1
nsv1016859	Chr.6:1459785 - 1645585 on Build GRCh38	Gain	GMDS FOXCUT FOXC1
nsv823397	Chr.6:1603632 - 1622029 on Build GRCh38	Gain	FOXCUT FOXC1
nsv1119068	Chr.6:1610865 - 1612165 on Build GRCh38	Deletion	FOXC1
nsv600807	Chr.6:1610649 - 1623755 on Build GRCh38	Loss	FOXC1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

winged helix/forkhead transcription factor

Gene Ontology Categories:

Process(es)

skeletal system development
ossification
ovarian follicle development
eye development
ureteric bud development
in utero embryonic development
somitogenesis
lymph vessel development
blood vessel remodeling
regulation of transcription, DNA-templated
transcription from RNA polymerase II promoter
Notch signaling pathway
brain development
heart development
cell proliferation
germ cell migration
mesenchymal cell development
neural crest cell development
cell migration
negative regulation of angiogenesis
collagen fibril organization
glycosaminoglycan metabolic process
lacrimal gland development
embryonic heart tube development
maintenance of lens transparency
vascular endothelial growth factor signaling pathway
odontogenesis of dentin-containing tooth
camera-type eye development
positive regulation of transcription, DNA-templated
negative regulation of mitotic cell cycle
positive regulation of transcription from RNA polymerase II promoter
regulation of organ growth
vascular endothelial growth factor receptor signaling pathway
paraxial mesoderm formation
artery morphogenesis
regulation of blood vessel size
ventricular cardiac muscle tissue morphogenesis
cardiac muscle cell proliferation
negative regulation of lymphangiogenesis
positive regulation of hematopoietic progenitor cell differentiation
positive regulation of hematopoietic stem cell differentiation
negative regulation of apoptotic process involved in outflow tract morphogenesis

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
RNA polymerase II transcription factor activity, sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
DNA binding
transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
protein binding
transcription factor binding
DNA binding, bending
sequence-specific DNA binding
transcription regulatory region DNA binding