Hs02567312_cn

• Gene Symbol: UACA
• Assay Reference Genome Location: Chr.15:70668102 on build GRCh38
• Cytoband: 15q23

Target Gene Details

• Entrez Gene ID: 55075
• Gene Name: uveal autoantigen with coiled-coil domains and ankyrin repeats
• Gene Aliases: NUCLING
• Location: Chr.15:70654554-70778823 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UACA	NM_001008224.1	16	2909	NP_001008225.1
	NM_018003.2	16	2686	NP_060473.2
	XM_005254529.4	15	2903	XP_005254586.1
	XM_011521752.2	16	3015	XP_011520054.2
	XM_011521753.2	15	2983	XP_011520055.2
	XM_011521754.2	15	2464	XP_011520056.1
	XM_017022394.1	15	2735	XP_016877883.1
	XM_017022395.1	16	2546	XP_016877884.1
	AB046781.2	16	2582	BAB13387.2
	AF322916.1	16	2631	AAG49577.1
	AK000990.1	1	647	BAA91457.1
	BC113407.1	16	2605
	BC113409.1	16	2605
	BC143266.1	16	2605
	BC143267.1	13	2278

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1594	Chr.15:70645257 - 70677701 on Build GRCh38	Insertion	UACA
nsv833049	Chr.15:70582449 - 70687237 on Build GRCh38	Loss	LOC101929151 UACA SALRNA2 SALRNA3
nsv1035437	Chr.15:70644099 - 70746740 on Build GRCh38	Loss	UACA

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

biological_process
apoptotic signaling pathway
regulation of NIK/NF-kappaB signaling

Function(s)

molecular_function
protein binding