UBE2NL

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

Basic information

Region (hg38): X:143884071-143885255

Links

ENSG00000276380NCBI:389898HGNC:31710Uniprot:Q5JXB2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
1
missense
6
clinvar
1
clinvar
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)3330563
X-143884212-G-A not specified Uncertain significance (Apr 05, 2023)2515445
X-143884236-T-G not specified Uncertain significance (Apr 18, 2023)2537785
X-143884255-C-G Benign (Feb 16, 2018)770314
X-143884335-C-T not specified Uncertain significance (Sep 01, 2021)2248666
X-143884363-G-A not specified Uncertain significance (Feb 27, 2024)3185537
X-143884450-A-G not specified Uncertain significance (Mar 02, 2023)2458570
X-143884453-C-T not specified Uncertain significance (Dec 01, 2022)2330325
X-143884520-A-G Likely benign (Dec 01, 2022)2661582
X-143884530-T-C not specified Uncertain significance (May 24, 2024)3330564
X-143884555-G-T not specified Uncertain significance (Dec 06, 2021)2216670

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
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0358

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

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