Hs04754752_cn

• Gene Symbol: WDR48
• Assay Reference Genome Location: Chr.3:39070440 on build GRCh38
• Cytoband: 3p22.2

Target Gene Details

• Entrez Gene ID: 57599
• Gene Name: WD repeat domain 48
• Gene Aliases: P80, SPG60, UAF1
• Location: Chr.3:39051986-39096671 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
WDR48	NM_001303402.1			NP_001290331.1
	NM_001303403.1			NP_001290332.1
	NM_020839.3			NP_065890.1
	XM_005265346.3			XP_005265403.1
	XM_011533971.1			XP_011532273.1
	XM_017006960.1			XP_016862449.1
	AB040882.2
	AF468833.1			AAL78650.1
	AK025513.1
	AK297349.1
	AK298810.1
	AK302307.1
	AL832926.1			CAH56300.1
	BC026353.1			AAH26353.1
	BC037168.2			AAH37168.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1007100	Chr.3:39051835 - 39094306 on Build GRCh38	Loss	WDR48 SCN11A

More Information

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

Gene Ontology Categories:

Process(es)

double-strand break repair via homologous recombination
spermatogenesis
single fertilization
viral process
protein deubiquitination
multicellular organism growth
skin development
embryonic organ development
skeletal system morphogenesis
homeostasis of number of cells
positive regulation of epithelial cell proliferation
seminiferous tubule development
regulation of protein monoubiquitination

Function(s)

protein binding