UBE2F-SCLY

Chr 2

UBE2F-SCLY readthrough (NMD candidate)

This locus represents a naturally occurring read-through transcript between the UBE2F and SCLY genes that is unlikely to produce a functional protein product and is a candidate for nonsense-mediated mRNA decay. No disease associations have been established for this read-through transcript based on the available information.

ResearchSummary from RefSeq
Clinical SummaryUBE2F-SCLY
📋
ClinVar Variants
36 unique Pathogenic / Likely Pathogenic· 115 VUS of 169 total submissions
Some data sources returned errors (1)

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Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

169 submitted variants in ClinVar

Classification Summary

Pathogenic36
VUS115
Likely Benign8
Benign6
36
Pathogenic
115
VUS
8
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
36
0
36
Likely Pathogenic
0
0
0
0
0
VUS
0
111
4
0
115
Likely Benign
0
7
0
1
8
Benign
0
3
1
2
6
Total0121413165

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

View in ClinVar →

Protein Context — Lollipop Plot

UBE2F-SCLY · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found