PEDS1-UBE2V1
Chr 20PEDS1-UBE2V1 readthrough
Also known as: CROC-1B, CROC1B, KUA-UEV, TMEM189-UBE2V1
The protein encoded by this read-through transcript contains UEV1 B domains and localizes to the cytoplasm, but its biological function remains undetermined. This gene shows low constraint against loss-of-function variants (pLI = 0.008, LOEUF = 0.67), and no established disease associations have been reported in the literature.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
23 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 1 | 6 | 2 | 0 | 9 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 1 | 7 | 12 | 1 | 21 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PEDS1-UBE2V1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools