Hs01175290_cn

• Gene Symbol: C7orf50
• Assay Reference Genome Location: Chr.7:984433 on build GRCh38
• Cytoband: 7p22.3

Target Gene Details

• Entrez Gene ID: 84310
• Gene Name: chromosome 7 open reading frame 50
• Gene Aliases: YCR016W
• Location: Chr.7:978485-1138291 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C7orf50	XM_011515580.2			XP_011513882.1
	XM_011515581.2			XP_011513883.1
	XM_011515582.2			XP_011513884.1
	XM_011515583.2			XP_011513885.1
	XM_011515584.2			XP_011513886.1
	XM_017012720.1			XP_016868209.1
	XM_017012721.1			XP_016868210.1

Target Gene Details

• Entrez Gene ID: 54905
• Gene Name: cytochrome P450 family 2 subfamily W member 1
• Gene Aliases: -
• Location: Chr.7:983157-989640 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYP2W1	NM_017781.2			NP_060251.2
	XM_011515440.2			XP_011513742.1
	XM_011515441.2			XP_011513743.1
	AK000366.1			BAA91114.1
	BC025761.1			AAH25761.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv605720	Chr.7:977312 - 1121522 on Build GRCh38	Loss	MIR339 C7orf50 LOC107986755 GPR146 CYP2W1 GPER1
nsv605700	Chr.7:886440 - 1065790 on Build GRCh38	Gain	GET4 MIR339 ADAP1 C7orf50 LOC107986755 COX19 GPR146 CYP2W1
nsv482099	Chr.7:983199 - 989640 on Build GRCh38	Gain	C7orf50 CYP2W1
esv3571559	Chr.7:981839 - 1000115 on Build GRCh38	Loss	C7orf50 CYP2W1
nsv605699	Chr.7:886312 - 1073232 on Build GRCh38	Loss	GET4 MIR339 ADAP1 C7orf50 LOC107986755 COX19 GPR146 CYP2W1
nsv1028282	Chr.7:964887 - 1000659 on Build GRCh38	Gain	C7orf50 COX19 CYP2W1
nsv509182	Chr.7:881218 - 1018010 on Build GRCh38	Insertion	GET4 ADAP1 C7orf50 COX19 CYP2W1
nsv950784	Chr.7:855964 - 1074664 on Build GRCh38	Deletion	GET4 MIR339 ADAP1 C7orf50 LOC107986755 COX19 GPR146 CYP2W1 SUN1
esv3571557	Chr.7:823644 - 994725 on Build GRCh38	Loss	LOC107986754 GET4 ADAP1 C7orf50 COX19 CYP2W1 SUN1
nsv605705	Chr.7:947983 - 1211575 on Build GRCh38	Loss	ZFAND2A MIR339 ADAP1 C7orf50 LOC107986755 COX19 GPR146 CYP2W1 GPER1 LOC101927021
nsv1161477	Chr.7:928825 - 1077800 on Build GRCh38	Deletion	MIR339 ADAP1 C7orf50 LOC107986755 COX19 GPR146 CYP2W1

More Information

Additional Information:

For this assay, SNP(s) [rs73259906] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

oxidoreductase, oxygenase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

xenobiotic metabolic process
aflatoxin B1 metabolic process
oxidation-reduction process

Function(s)

protein binding
poly(A) RNA binding
monooxygenase activity
iron ion binding
steroid hydroxylase activity
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
heme binding