UBE2F-SCLY

ncRNA

UBE2F-SCLY readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring UBE2F (ubiquitin-conjugating enzyme E2F) and SCLY (selenocysteine lyase) genes on chromosome 2. The read-through transcript is a candidate for non-sense mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:2B:1

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr2:237,967,014-238,099,412

External References & Databases

Ensembl (ENSG00000258984)

NCBI Gene (100533179)

Transcript & Mutation Effects

hg38 • Region Span ~132.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to UBE2F-SCLY variants in ClinVar

2 Conditions Cataloged

Inborn genetic diseasesTotal: 36

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar		1 clinvar	3
Total	0	0	2	0	1	3

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000449191.1	Ensembl	ENSP00000456827.1	6	Standard
ENST00000449891.5	Ensembl	ENSP00000457658.1	4	Standard

dbNSFP Gene Annotations

Source: dbNSFP