Hs05769245_cn

• Gene Symbol: PROX1
• Assay Reference Genome Location: Chr.1:213987956 on build GRCh38
• Cytoband: 1q32.3

Target Gene Details

• Entrez Gene ID: 5629
• Gene Name: prospero homeobox 1
• Gene Aliases: -
• Location: Chr.1:213983239-214041510 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PROX1	NM_001270616.1			NP_001257545.1
	XM_005273194.1			XP_005273251.1
	XM_011509771.1			XP_011508073.1
	XM_011509773.2			XP_011508075.1
	AK298182.1
	DA802102.1
	DB086260.1
	U44060.1			AAC50656.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952088	Chr.1:213980058 - 213991157 on Build GRCh38	Deletion	PROX1 PROX1-AS1
nsv4498	Chr.1:213981463 - 214016219 on Build GRCh38	Insertion	PROX1 PROX1-AS1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

homeodomain transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
cell fate determination
kidney development
liver development
positive regulation of endothelial cell proliferation
lymphangiogenesis
lens development in camera-type eye
hepatocyte cell migration
transcription, DNA-templated
brain development
circadian rhythm
positive regulation of cell proliferation
negative regulation of cell proliferation
regulation of gene expression
positive regulation of endothelial cell migration
dorsal spinal cord development
dentate gyrus development
cerebellar granule cell differentiation
neural tube development
neuron differentiation
skeletal muscle thin filament assembly
lung development
olfactory placode formation
pancreas development
response to nutrient levels
regulation of circadian rhythm
otic placode formation
negative regulation of sequence-specific DNA binding transcription factor activity
negative regulation of viral genome replication
positive regulation of cyclin-dependent protein serine/threonine kinase activity
positive regulation of cell cycle
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
optic placode formation involved in camera-type eye formation
venous blood vessel morphogenesis
ventricular cardiac myofibril assembly
cardiac muscle cell differentiation
atrial cardiac muscle tissue morphogenesis
ventricular cardiac muscle tissue morphogenesis
retina morphogenesis in camera-type eye
embryonic retina morphogenesis in camera-type eye
endocardium formation
positive regulation of sarcomere organization
ventricular septum morphogenesis
aorta smooth muscle tissue morphogenesis
positive regulation of heart growth
lymphatic endothelial cell differentiation
regulation of transcription involved in lymphatic endothelial cell fate commitment
branching involved in pancreas morphogenesis
lens fiber cell morphogenesis
hepatocyte differentiation
negative regulation of bile acid biosynthetic process
hepatocyte proliferation
acinar cell differentiation
neuronal stem cell population maintenance
positive regulation of cell cycle checkpoint
positive regulation of neural precursor cell proliferation
positive regulation of forebrain neuron differentiation

Function(s)

core promoter sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
DNA binding
transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
transcription corepressor activity
protein binding
ligand-dependent nuclear receptor binding
transcription regulatory region DNA binding
DBD domain binding
LBD domain binding