Hs01182209_cn

• Gene Symbol: CYP1B1
• Assay Reference Genome Location: Chr.2:38071120 on build GRCh38
• Cytoband: 2p22.2

Target Gene Details

• Entrez Gene ID: 1545
• Gene Name: cytochrome P450 family 1 subfamily B member 1
• Gene Aliases: CP1B, CYPIB1, GLC3A, P4501B1
• Location: Chr.2:38067603-38076181 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYP1B1	NM_000104.3	3	1637	NP_000095.2
	AK297039.1	3	1220
	AK303862.1	3	631
	AK312686.1	3	1639
	BC012049.1	3	1590	AAH12049.1
	BT019979.1	2	1234	AAV38782.1
	BT020001.1	2	1234	AAV38804.1
	U03688.1	3	1580	AAA19567.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2659660	Chr.2:38005484 - 38133194 on Build GRCh38	Deletion	CYP1B1 RMDN2-AS1 RMDN2 CYP1B1-AS1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

angiogenesis
trabecular meshwork development
cellular aromatic compound metabolic process
xenobiotic metabolic process
nitric oxide biosynthetic process
cell adhesion
visual perception
steroid metabolic process
estrogen metabolic process
negative regulation of cell proliferation
intrinsic apoptotic signaling pathway in response to oxidative stress
toxin metabolic process
response to toxic substance
positive regulation of vascular endothelial growth factor production
sterol metabolic process
arachidonic acid metabolic process
epoxygenase P450 pathway
collagen fibril organization
negative regulation of cell migration
negative regulation of NF-kappaB transcription factor activity
negative regulation of cell adhesion mediated by integrin
retinol metabolic process
retinal metabolic process
positive regulation of apoptotic process
endothelial cell migration
positive regulation of angiogenesis
positive regulation of JAK-STAT cascade
membrane lipid catabolic process
blood vessel morphogenesis
oxidation-reduction process
retinal blood vessel morphogenesis
cellular response to hydrogen peroxide
cellular response to organic cyclic compound
endothelial cell-cell adhesion
omega-hydroxylase P450 pathway
regulation of reactive oxygen species metabolic process

Function(s)

monooxygenase activity
iron ion binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
oxygen binding
heme binding
aromatase activity