REXO2

Chr 11

RNA exonuclease 2

Also known as: CGI-114, REX2, RFN, SFN

NCBI Gene: 25996 ENSG00000076043 UniProt: Q9Y3B8 OMIM: 607149

This gene encodes a 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.77

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.77LOEUF

pLI 0.023

Z-score 2.17

OE 0.37 (0.19–0.77)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.01Z-score

OE missense 0.75 (0.63–0.89)

93 obs / 124.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.37 (0.19–0.77)

0≤0.351.4

Missense OE?0.75 (0.63–0.89)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 5 / 13.6Missense obs/exp: 93 / 124.6Syn Z: 0.17

Background carrier burden — how many people carry a rare variant somewhere in REXO2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 310

273 rare PASS variants

Rare truncating (LoF)

1 in 6,100

37 rare PASS variants

Rare synonymous (reference)

1 in 230

108 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for REXO2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 340	1 in 6,900
South Asian	~43k	1 in 330	1 in 3,900
Remaining (unassigned)	~30k	1 in 200	≈ 1 in 10,000
European (Finnish)	~27k	1 in 360	≈ 1 in 5,900
Admixed American	~22k	1 in 360	none seen
African / African American	~21k	1 in 160	1 in 2,100
East Asian	~20k	1 in 450	≈ 1 in 6,600
Ashkenazi Jewish	~13k	≈ 1 in 4,300	none seen
Middle Eastern	~2,884	1 in 550	≈ 1 in 1,300

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 6 of 7 coding exons well covered in gnomAD exomes; exon 5 marginal. Genomes: all 7.? see exons ↓