UBE3D

Chr 6

ubiquitin protein ligase E3D

Also known as: C6orf157, H10BH, UBE2CBP, YJR141W

NCBI Gene: 90025ENSG00000118420UniProt: Q7Z6J8

Enables cyclin binding activity; ubiquitin protein ligase activity; and ubiquitin-like protein conjugating enzyme binding activity. Involved in protein autoubiquitination; protein monoubiquitination; and protein polyubiquitination. Part of ubiquitin ligase complex. Is active in cytosol. [provided by Alliance of Genome Resources, Apr 2025]

0
Active trials
14
Pathogenic / LP
86
ClinVar variants
2
Pubs (1 yr)
0.3
Missense Z
0.99
LOEUF
Clinical Summary— UBE3D
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 64 VUS of 86 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.99LOEUF
pLI 0.000
Z-score 1.60
OE 0.62 (0.40–0.99)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.28Z-score
OE missense 0.94 (0.84–1.06)
196 obs / 207.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.62 (0.40–0.99)
0≤0.351.4
Missense OE0.94 (0.84–1.06)
0≤0.61.4
Synonymous OE1.06
0≤1.21.6
LoF obs/exp: 13 / 20.9Missense obs/exp: 196 / 207.5Syn Z: -0.46

ClinVar Variant Classifications

86 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
VUS64
Likely Benign8
14
Pathogenic
64
VUS
8
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
0
0
0
VUS
0
57
7
0
64
Likely Benign
0
8
0
0
8
Benign
0
0
0
0
0
Total06521086

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

UBE3D · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients