Hs03010902_cn

• Gene Symbol: C4orf47
• Assay Reference Genome Location: Chr.4:185422565 on build GRCh38
• Cytoband: 4q35.1

Target Gene Details

• Entrez Gene ID: 441054
• Gene Name: chromosome 4 open reading frame 47
• Gene Aliases: -
• Location: Chr.4:185405227-185449828 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C4orf47	XM_017008236.1			XP_016863725.1
	XM_017008237.1			XP_016863726.1
	XM_017008238.1			XP_016863727.1
	XM_017008239.1			XP_016863728.1
	XM_017008241.1			XP_016863730.1
	XM_017008242.1			XP_016863731.1

Target Gene Details

• Entrez Gene ID: 55325
• Gene Name: UFM1 specific peptidase 2
• Gene Aliases: BHD, C4orf20
• Location: Chr.4:185399540-185425985 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UFSP2	NM_018359.3			NP_060829.2
	NR_028085.1
	AK002062.1			BAA92064.1
	AK091635.1
	BC010493.1			AAH10493.1
	BP264462.1
	CR457278.1			CAG33559.1
	DA537391.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1033523	Chr.4:185394656 - 185473803 on Build GRCh38	Gain	LOC105377590 C4orf47 CCDC110 ANKRD37 UFSP2 LRP2BP
esv3603492	Chr.4:185370615 - 185448567 on Build GRCh38	Gain	C4orf47 CCDC110 ANKRD37 UFSP2 LRP2BP
nsv527026	Chr.4:185404275 - 185632326 on Build GRCh38	Gain	LOC105377590 SORBS2 C4orf47 CCDC110 PDLIM3 UFSP2
esv2759309	Chr.4:185391971 - 185553542 on Build GRCh38	Loss	LOC105377590 C4orf47 CCDC110 PDLIM3 ANKRD37 UFSP2 LRP2BP
nsv428456	Chr.4:185328666 - 185492417 on Build GRCh38	Gain+Loss	LOC105377590 C4orf47 CCDC110 SNX25 ANKRD37 UFSP2 LRP2BP

More Information

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

Gene Ontology Categories:

Process(es)

proteolysis
regulation of intracellular estrogen receptor signaling pathway

Function(s)

protein binding
thiolester hydrolase activity
UFM1 hydrolase activity