Hs05908683_cn

• Gene Symbol: UVSSA
• Assay Reference Genome Location: Chr.4:1356487 on build GRCh38
• Cytoband: 4p16.3

Target Gene Details

• Entrez Gene ID: 57654
• Gene Name: UV stimulated scaffold protein A
• Gene Aliases: KIAA1530, UVSS3
• Location: Chr.4:1345662-1388049 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UVSSA	NM_001317934.1			NP_001304863.1
	NM_001317935.1			NP_001304864.1
	NM_020894.3			NP_065945.2
	XM_017008490.1			XP_016863979.1
	XM_017008491.1			XP_016863980.1
	XM_017008492.1			XP_016863981.1
	XM_017008493.1			XP_016863982.1
	XM_017008494.1			XP_016863983.1
	XM_017008495.1			XP_016863984.1
	XM_017008496.1	9	2216	XP_016863985.1
	XM_017008498.1			XP_016863987.1
	AB040963.1
	AL512751.1	1	917
	BC110331.1			AAI10332.1
	BC140901.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	CPLX1 FGFRL1 CRIPAK TMED11P DGKQ MYL5 RNF212 LOC100130872 LOC105374344 LOC107986211 CTBP1-AS2 SLC26A1 NKX1-1 MFSD7 SPON2 LOC101928521 LOC101928548 IDUA CTBP1 PDE6B MAEA UVSSA TMEM175 GAK CTBP1-AS LOC100129917 ATP5I PCGF3
nsv593278	Chr.4:1165892 - 1421910 on Build GRCh38	Loss	SPON2 UVSSA LOC101928548 CRIPAK CTBP1 CTBP1-AS CTBP1-AS2 LOC100130872 MAEA NKX1-1
nsv461157	Chr.4:1306289 - 1358897 on Build GRCh38	Loss	UVSSA MAEA
nsv593302	Chr.4:1344830 - 1420896 on Build GRCh38	Loss	UVSSA CRIPAK NKX1-1
nsv508988	Chr.4:1190955 - 1358870 on Build GRCh38	Insertion	SPON2 UVSSA LOC101928548 CTBP1 CTBP1-AS CTBP1-AS2 LOC100130872 MAEA
nsv593281	Chr.4:1209477 - 1358897 on Build GRCh38	Loss	UVSSA CTBP1 CTBP1-AS CTBP1-AS2 MAEA

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

transcription-coupled nucleotide-excision repair
response to UV
protein ubiquitination

Function(s)

RNA polymerase II core binding
protein binding