Hs01868825_cn

• Gene Symbol: TMEM189-UBE2V1
• Assay Reference Genome Location: Chr.20:50115925 on build GRCh38
• Cytoband: 20q13.13

Target Gene Details

• Entrez Gene ID: 387522
• Gene Name: TMEM189-UBE2V1 readthrough
• Gene Aliases: CROC-1B, CROC1B, KUA-UEV
• Location: Chr.20:50081124-50153798 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM189-UBE2V1	NM_199203.2			NP_954673.1
	U39361.1			AAB72016.1

Target Gene Details

• Entrez Gene ID: 7335
• Gene Name: ubiquitin conjugating enzyme E2 V1
• Gene Aliases: CIR1, CROC-1, CROC1, UBE2V, UEV-1, UEV1, UEV1A
• Location: Chr.20:50081124-50115959 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UBE2V1	NM_001257393.1	1	35	NP_001244322.1
	NM_001257394.1	1	35	NP_001244323.1
	NM_001282575.2	1	35	NP_001269504.1
	NM_021988.5	1	35	NP_068823.2
	NM_022442.5	1	35	NP_071887.1
	NM_199144.2	1	35	NP_954595.1
	AK314754.1
	BU540046.1	1	36
	CD103154.1
	CN346855.1
	DA409547.1	1	35
	U97280.1			AAC02755.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1061982	Chr.20:50111064 - 50483508 on Build GRCh38	Loss	CEBPB LINC01271 TMEM189-UBE2V1 LINC01273 TMEM189 CEBPB-AS1 UBE2V1 LINC01270 LINC01272
esv3646041	Chr.20:50114564 - 50116213 on Build GRCh38	Loss	TMEM189-UBE2V1 UBE2V1
nsv833999	Chr.20:50037107 - 50118431 on Build GRCh38	Loss	TMEM189-UBE2V1 TRERNA1 UBE2V1

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

protein polyubiquitination
stimulatory C-type lectin receptor signaling pathway
regulation of DNA repair
postreplication repair
regulation of transcription, DNA-templated
cell differentiation
Fc-epsilon receptor signaling pathway
positive regulation of I-kappaB kinase/NF-kappaB signaling
positive regulation of transcription, DNA-templated
T cell receptor signaling pathway
positive regulation of NF-kappaB transcription factor activity
nucleotide-binding oligomerization domain containing signaling pathway
protein K63-linked ubiquitination

Function(s)

protein binding
ubiquitin protein ligase binding
ubiquitin protein ligase activity