Hs04547569_cn

• Gene Symbol: CD53
• Assay Reference Genome Location: Chr.1:110880310 on build GRCh38
• Cytoband: 1p13.3

Target Gene Details

• Entrez Gene ID: 963
• Gene Name: CD53 molecule
• Gene Aliases: MOX44, TSPAN25
• Location: Chr.1:110871199-110899936 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CD53	NM_000560.3			NP_000551.1
	NM_001040033.1			NP_001035122.1
	NM_001320638.1			NP_001307567.1
	AK298723.1
	AK313582.1
	BC040693.1			AAH40693.1
	BG536920.1
	M37033.1			AAA35663.1
	M60871.1			AAA51951.1

Target Gene Details

• Entrez Gene ID: 55791
• Gene Name: ligand dependent nuclear receptor interacting factor 1
• Gene Aliases: C1orf103, RIF1
• Location: Chr.1:110877252-110964203 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LRIF1	XM_017001769.1			XP_016857258.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831037	Chr.1:110770456 - 110911256 on Build GRCh38	Gain	LRIF1 CD53
nsv522939	Chr.1:110878805 - 110883427 on Build GRCh38	Loss	LRIF1 CD53

More Information

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

Gene Ontology Categories:

Process(es)

signal transduction
cell surface receptor signaling pathway
positive regulation of myoblast fusion
transcription, DNA-templated
regulation of transcription, DNA-templated

Function(s)

protein binding
retinoic acid receptor binding