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

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