Hs06714172_cn

• Gene Symbol: UVSSA
• Assay Reference Genome Location: Chr.4:1357504 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	3233	XP_016863985.1
	XM_017008498.1			XP_016863987.1
	AB040963.1
	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	LOC101928521 CPLX1 TMED11P ATP5I LOC101928548 PCGF3 LOC107986211 CTBP1-AS2 LOC100130872 PDE6B NKX1-1 SLC26A1 LOC100129917 LOC105374344 FGFRL1 CRIPAK CTBP1 TMEM175 GAK SPON2 MYL5 MAEA IDUA CTBP1-AS MFSD7 RNF212 DGKQ UVSSA
nsv593278	Chr.4:1165892 - 1421910 on Build GRCh38	Loss	CTBP1-AS2 CTBP1-AS CRIPAK CTBP1 LOC100130872 UVSSA NKX1-1 SPON2 LOC101928548 MAEA
nsv593301	Chr.4:1306289 - 1358897 on Build GRCh38	Loss	UVSSA MAEA
nsv593302	Chr.4:1344830 - 1420896 on Build GRCh38	Loss	CRIPAK UVSSA NKX1-1
nsv508988	Chr.4:1190955 - 1358870 on Build GRCh38	Insertion	CTBP1-AS2 CTBP1-AS CTBP1 LOC100130872 UVSSA SPON2 LOC101928548 MAEA
nsv593281	Chr.4:1209477 - 1358897 on Build GRCh38	Loss	CTBP1-AS2 CTBP1-AS CTBP1 UVSSA 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