Hs01451998_cn

• Gene Symbol: C9orf3
• Assay Reference Genome Location: Chr.9:94760010 on build GRCh38
• Cytoband: 9q22.32

Target Gene Details

• Entrez Gene ID: 84909
• Gene Name: chromosome 9 open reading frame 3
• Gene Aliases: AOPEP, AP-O, APO, C90RF3, ONPEP
• Location: Chr.9:94726604-95148264 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C9orf3	NM_001193329.1	1	362	NP_001180258.1
	NM_001193331.2	2	445	NP_001180260.1
	NM_032823.5	2	445	NP_116212.3
	XM_005252284.2	2	510	XP_005252341.1
	XM_006717306.1	2	510	XP_006717369.1
	XM_011519119.1	2	510	XP_011517421.1
	XM_011519120.2	2	510	XP_011517422.1
	XM_011519121.2	2	510	XP_011517423.1
	XM_011519122.2	2	510	XP_011517424.1
	XM_011519123.2	2	510	XP_011517425.1
	XM_011519127.1	2	510	XP_011517429.1
	XM_011519129.1	2	510	XP_011517431.1
	XM_011519130.1	2	510	XP_011517432.1
	XM_011519134.2	2	510	XP_011517436.1
	XM_017015229.1	2	553	XP_016870718.1
	XM_017015230.1	2	510	XP_016870719.1
	XM_017015231.1	2	510	XP_016870720.1
	XM_017015232.1	2	510	XP_016870721.1
	XM_017015233.1	2	387	XP_016870722.1
	XM_017015234.1	2	510	XP_016870723.1
	XM_017015235.1	2	510	XP_016870724.1
	XM_017015236.1	2	510	XP_016870725.1
	XM_017015237.1	2	510	XP_016870726.1
	AJ560639.1	1	227	CAD90259.1
	AK057450.1	2	413	BAB71491.1
	AK296782.1	2	415
	BC029616.1	2	402	AAH29616.1
	DA222106.1	2	510
	DA521148.1	2	445

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3621113	Chr.9:94207958 - 94890837 on Build GRCh38	Gain	FBP2 LOC728026 PCAT7 C9orf3 NUTM2F LOC100132077 MIR2278 ZNF169 FBP1 MFSD14B
nsv1041922	Chr.9:94682694 - 94774471 on Build GRCh38	Gain	C9orf3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

protease, protein modifying enzyme

Gene Ontology Categories:

Process(es)

proteolysis
peptide catabolic process

Function(s)

aminopeptidase activity
metallopeptidase activity
zinc ion binding
peptide binding
metalloaminopeptidase activity