SELENOO

Chr 22

selenoprotein O

Also known as: SELO

NCBI Gene: 83642 ENSG00000073169 UniProt: Q9BVL4 OMIM: 607917

This gene encodes a large mitochondrial selenoprotein that catalyzes AMPylation of serine, threonine, and tyrosine residues in target proteins and may have redox activity. The gene is highly tolerant to loss-of-function variants (LOEUF 1.69), and no definitive human disease associations have been established for SELENOO mutations. Clinical significance of variants in this gene remains uncertain.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [provided by RefSeq, Dec 2016]

OMIM ResearchGenerating clinical summary…

LOEUF 1.69

Clinical Summary— SELENOO

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

194 VUS of 226 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.69LOEUF

pLI 0.000

Z-score -0.88

OE 1.21 (0.88–1.69)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.40Z-score

OE missense 1.21 (1.11–1.31)

436 obs / 361.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.21 (0.88–1.69)

0≤0.351.4

Missense OE?1.21 (1.11–1.31)

0≤0.61.4

Synonymous OE?1.35

0≤1.21.6

LoF obs/exp: 24 / 19.8Missense obs/exp: 436 / 361.3Syn Z: -3.60

ClinVar Variant Classifications

226 submitted variants in ClinVar

ClinVar

Classification Summary

VUS194

Likely Benign11

Benign2

Conflicting1

194

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	0	190	4	0	194
Likely Benign	0	8	1	2	11
Benign	0	0	1	1	2
Conflicting	—				1
Total	0	198	6	3	208

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

View in ClinVar →

143 pathogenic / likely-pathogenic (of 156) ClinVar copy-number / structural variants overlap SELENOO — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →