Hs01714502_cn

• Gene Symbol: C2orf47
• Assay Reference Genome Location: Chr.2:199955713 on build GRCh38
• Cytoband: 2q33.1

Target Gene Details

• Entrez Gene ID: 79568
• Gene Name: chromosome 2 open reading frame 47
• Gene Aliases: -
• Location: Chr.2:199955317-199964125 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C2orf47	NM_024520.2	2	237	NP_078796.2
	XM_005246852.2	1	148	XP_005246909.1
	AK026208.1	2	237	BAB15393.1

Target Gene Details

• Entrez Gene ID: 129450
• Gene Name: tRNA-yW synthesizing protein 5
• Gene Aliases: C2orf60, hTYW5
• Location: Chr.2:199928911-199955736 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TYW5	NM_001039693.2			NP_001034782.1
	NR_004862.1
	NR_109905.1
	NR_109906.1
	NR_109907.1
	BX647677.1
	CB131724.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834510	Chr.2:199852719 - 200052794 on Build GRCh38	Loss	C2orf69 C2orf47 TYW5

More Information

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

Gene Ontology Categories:

Process(es)

tRNA modification
wybutosine biosynthetic process
oxidation-reduction process

Function(s)

tRNA binding
iron ion binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
protein homodimerization activity