UBE2NL

ubiquitin conjugating enzyme E2 N like (gene/pseudogene), the group of Ubiquitin conjugating enzymes E2

Basic information

Region (hg38): X:143884071-143885255

Links

ENSG00000276380 ∙ NCBI:389898 ∙ ∙ HGNC:31710 ∙ Uniprot:Q5JXB2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UBE2NL gene.

• Inborn genetic diseases (6 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2NL gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			6		1	7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	1	1

Variants in UBE2NL

This is a list of pathogenic ClinVar variants found in the UBE2NL region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-143884135-C-T		not specified	Uncertain significance (Apr 25, 2024)
X-143884212-G-A		not specified	Uncertain significance (Apr 05, 2023)
X-143884236-T-G		not specified	Uncertain significance (Apr 18, 2023)
X-143884255-C-G			Benign (Feb 16, 2018)
X-143884335-C-T		not specified	Uncertain significance (Sep 01, 2021)
X-143884363-G-A		not specified	Uncertain significance (Feb 27, 2024)
X-143884450-A-G		not specified	Uncertain significance (Mar 02, 2023)
X-143884453-C-T		not specified	Uncertain significance (Dec 01, 2022)
X-143884520-A-G			Likely benign (Dec 01, 2022)
X-143884530-T-C		not specified	Uncertain significance (May 24, 2024)
X-143884555-G-T		not specified	Uncertain significance (Dec 06, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Ubiquitin mediated proteolysis - Homo sapiens (human);protein ubiquitylation (Consensus)

Recessive Scores

• pRec: 0.0707

Intolerance Scores

• loftool: 0.592
• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.06

Haploinsufficiency Scores

• pHI: 0.113
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0358

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: postreplication repair;protein K63-linked ubiquitination
• Cellular component: nucleus;extracellular exosome
• Molecular function: ubiquitin conjugating enzyme activity