PEDS1-UBE2V1

Chr 20

PEDS1-UBE2V1 readthrough

Also known as: CROC-1B, CROC1B, KUA-UEV, TMEM189-UBE2V1

The TMEM189-UEV mRNA is an infrequent but naturally occurring read-through transcript of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein produced by this transcript has UEV1 B domains but the protein is localized to the cytoplasm rather than to the nucleus. The significance of this read-through mRNA and the function of its protein product has not yet been determined. [provided by RefSeq, Oct 2010]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
0.67
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.67LOEUF
pLI 0.008
Z-score 2.65
OE 0.36 (0.200.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.43Z-score
OE missense 0.53 (0.450.62)
112 obs / 211.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.36 (0.200.67)
00.351.4
Missense OE?0.53 (0.450.62)
00.61.4
Synonymous OE?1.17
01.21.6
LoF obs/exp: 7 / 19.7Missense obs/exp: 112 / 211.4Syn Z: -1.18

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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