Hs01897103_cn

• Gene Symbol: KXD1
• Assay Reference Genome Location: Chr.19:18564874 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 79036
• Gene Name: KxDL motif containing 1
• Gene Aliases: BORCS4, C19orf50, KXDL, MST096, MSTP096
• Location: Chr.19:18557762-18569387 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KXD1	NM_001171948.1			NP_001165419.1
	NM_001171949.1			NP_001165420.1
	NM_024069.3			NP_076974.2
	XM_005260073.4			XP_005260130.1
	XM_006722883.2			XP_006722946.1
	XM_011528272.2			XP_011526574.1
	XM_011528273.2			XP_011526575.1
	XM_017027281.1			XP_016882770.1
	XM_017027282.1			XP_016882771.1
	AF173381.1			AAQ13622.1
	AK091145.1
	AK098346.1
	BC001080.2			AAH01080.1
	BC006479.1			AAH06479.1
	BM781878.1
	BX648739.1
	DA542130.1
	DA616317.1

Target Gene Details

• Entrez Gene ID: 7311
• Gene Name: ubiquitin A-52 residue ribosomal protein fusion product 1
• Gene Aliases: CEP52, HUBCEP52, L40, RPL40
• Location: Chr.19:18563766-18577460 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UBA52

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833776	Chr.19:18527218 - 18671454 on Build GRCh38	Loss	KXD1 CRLF1 KLHL26 FKBP8 C19orf60 TMEM59L UBA52
nsv1061733	Chr.19:18464130 - 18568345 on Build GRCh38	Gain	KXD1 ELL FKBP8 UBA52
nsv1055794	Chr.19:18500735 - 18566123 on Build GRCh38	Gain	KXD1 ELL FKBP8 UBA52

More Information

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

Gene Ontology Categories:

Process(es)

vesicle-mediated transport
lysosome localization

Function(s)

protein binding