Hs04080052_cn

• Gene Symbol: UBE2L3
• Assay Reference Genome Location: Chr.22:21564654 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 7332
• Gene Name: ubiquitin conjugating enzyme E2 L3
• Gene Aliases: E2-F1, L-UBC, UBCH7, UbcM4
• Location: Chr.22:21549447-21624034 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UBE2L3	NM_001256355.1			NP_001243284.1
	AK299985.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428386	Chr.22:21328921 - 21595800 on Build GRCh38	Loss	RIMBP3B UBE2L3 RIMBP3C TMEM191C HIC2 PI4KAP2
nsv834145	Chr.22:21420780 - 21595800 on Build GRCh38	Loss	UBE2L3 RIMBP3C TMEM191C HIC2 PI4KAP2
nsv1160730	Chr.22:21373849 - 21633730 on Build GRCh38	Deletion	RIMBP3B UBE2L3 RIMBP3C TMEM191C HIC2 YDJC PI4KAP2 CCDC116
dgv4491n100	Chr.22:21454896 - 21597273 on Build GRCh38	Gain	UBE2L3 RIMBP3C TMEM191C PI4KAP2
dgv4486n100	Chr.22:21107318 - 21575360 on Build GRCh38	Gain	FAM230B RIMBP3B BCRP2 POM121L8P UBE2L3 RIMBP3C TMEM191C GGT2 LOC100996335 HIC2 PI4KAP2
dgv4488n100	Chr.22:21212930 - 21597273 on Build GRCh38	Gain	RIMBP3B POM121L8P UBE2L3 RIMBP3C TMEM191C GGT2 LOC100996335 HIC2 PI4KAP2
esv25508	Chr.22:21458461 - 21565455 on Build GRCh38	Gain+Loss	UBE2L3 RIMBP3C TMEM191C PI4KAP2

More Information

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

Panther Classification:

Molecular Function -

ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

protein polyubiquitination
transcription, DNA-templated
regulation of transcription, DNA-templated
cellular protein modification process
ubiquitin-dependent protein catabolic process
cell proliferation
protein ubiquitination
positive regulation of protein ubiquitination
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
cell cycle phase transition
positive regulation of ubiquitin-protein transferase activity
protein K11-linked ubiquitination
cellular response to steroid hormone stimulus
cellular response to glucocorticoid stimulus
positive regulation of protein targeting to mitochondrion

Function(s)

transcription coactivator activity
ubiquitin-protein transferase activity
protein binding
ATP binding
enzyme binding
ubiquitin protein ligase binding
poly(A) RNA binding
ubiquitin conjugating enzyme activity
ubiquitin-protein transferase activator activity