Hs01068400_cn

• Gene Symbol: CYP11A1
• Assay Reference Genome Location: Chr.15:74337802 on build GRCh38
• Cytoband: 15q24.1

Target Gene Details

• Entrez Gene ID: 1583
• Gene Name: cytochrome P450 family 11 subfamily A member 1
• Gene Aliases: CYP11A, CYPXIA1, P450SCC
• Location: Chr.15:74337762-74367740 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYP11A1	NM_000781.2			NP_000772.2
	NM_001099773.1			NP_001093243.1
	AI149078.1
	AK056794.1
	AK225715.1
	AK292300.1
	AK292301.1
	AK293211.1
	AK300178.1
	BC032329.1			AAH32329.1
	M14565.1			AAA52162.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3636903	Chr.15:74336145 - 74342188 on Build GRCh38	Loss	CCDC33 CYP11A1
nsv1121512	Chr.15:72670085 - 75273877 on Build GRCh38	Deletion	BBS4 REC114 LMAN1L NPTN CYP11A1 C15orf59-AS1 LOC283731 HCN4 CYP1A1 RPP25 SCAMP2 C15orf39 MIR6881 LOC105376731 SCAMP5 CLK3 UBL7 MIR4513 ULK3 ARID3B CSK EDC3 CD276 PPCDC UBL7-AS1 STRA6 MIR6882 CCDC33 LOC101929333 LOC102723750 ISLR2 LOC732265 FAM219B TBC1D21 LOC729739 GOLGA6C ISLR CYP1A2 GOLGA6A COX5A SEMA7A LOC107984728 ADPGK-AS1 LOXL1-AS1 HIGD2B ADPGK PML LOXL1 NEO1 MPI C15orf59 STOML1 CPLX3 NPTN-IT1

More Information

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

Gene Ontology Categories:

Process(es)

C21-steroid hormone biosynthetic process
glucocorticoid biosynthetic process
cholesterol metabolic process
sterol metabolic process
cortisol metabolic process
vitamin D metabolic process
secondary metabolite biosynthetic process
oxidation-reduction process
cellular response to peptide hormone stimulus

Function(s)

iron ion binding
cholesterol monooxygenase (side-chain-cleaving) activity
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
heme binding