Hs00280223_cn

• Gene Symbol: UVSSA
• Assay Reference Genome Location: Chr.4:1349586 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UVSSA	NM_001317934.1	3	507	NP_001304863.1
	NM_001317935.1	3	495	NP_001304864.1
	NM_020894.3	3	608	NP_065945.2
	XM_017008490.1	3	329	XP_016863979.1
	XM_017008491.1	3	421	XP_016863980.1
	XM_017008492.1	3	419	XP_016863981.1
	XM_017008493.1	3	295	XP_016863982.1
	XM_017008494.1	3	180	XP_016863983.1
	XM_017008496.1	3	932	XP_016863985.1
	XM_017008497.1	3	931	XP_016863986.1
	XM_017008498.1	2	163	XP_016863987.1
	XM_017008499.1	3	436	XP_016863988.1
	AB040963.1	3	608
	BC110331.1	3	507	AAI10332.1
	BC140901.1	3	345
	HY104489.1

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	IDUA LOC100129917 TMED11P LOC101928548 LOC105374344 CPLX1 TMEM175 NKX1-1 DGKQ RNF212 MFSD7 MYL5 UVSSA CTBP1 LOC100130872 ATP5I CTBP1-AS MAEA PDE6B LOC101928521 CRIPAK SPON2 SLC26A1 FGFRL1 CTBP1-AS2 LOC107986211 GAK PCGF3
esv3569247	Chr.4:1340902 - 1353008 on Build GRCh38	Loss	UVSSA
nsv593278	Chr.4:1165892 - 1421910 on Build GRCh38	Loss	CTBP1-AS MAEA NKX1-1 CRIPAK UVSSA SPON2 LOC101928548 CTBP1 LOC100130872 CTBP1-AS2
nsv593301	Chr.4:1306289 - 1358897 on Build GRCh38	Loss	MAEA UVSSA
nsv593302	Chr.4:1344830 - 1420896 on Build GRCh38	Loss	NKX1-1 CRIPAK UVSSA
nsv508988	Chr.4:1190955 - 1358870 on Build GRCh38	Insertion	CTBP1-AS MAEA UVSSA SPON2 LOC101928548 CTBP1 LOC100130872 CTBP1-AS2
nsv593281	Chr.4:1209477 - 1358897 on Build GRCh38	Loss	CTBP1-AS MAEA UVSSA CTBP1 CTBP1-AS2

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