Hs01499775_cn

• Gene Symbol: TMEM189
• Assay Reference Genome Location: Chr.20:50125049 on build GRCh38
• Cytoband: 20q13.13

Target Gene Details

• Entrez Gene ID: 387521
• Gene Name: transmembrane protein 189
• Gene Aliases: KUA
• Location: Chr.20:50123737-50153798 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM189	NM_001162505.1	6	974	NP_001155977.1
	NM_199129.2	6	983	NP_954580.1
	NR_027889.1	7	1087
	AB044550.1	6	896	BAB18652.1
	AF155120.1	6	910	AAF08702.1
	AK023028.1	6	908	BAB14364.1
	AK304595.1	5	698
	BC142966.1	6	898

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
	BF982644.1	5	630
	U39361.1			AAB72016.1

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 CEBPB-AS1 TMEM189 UBE2V1 TMEM189-UBE2V1 LINC01272 LINC01270 LINC01271 LINC01273
nsv834000	Chr.20:50037107 - 50163145 on Build GRCh38	Gain+Loss	TRERNA1 TMEM189 UBE2V1 TMEM189-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 ubiquitination

Function(s)

ubiquitin protein ligase binding
ubiquitin protein ligase activity