AAR2

Chr 20

AAR2 splicing factor

Also known as: C20orf4, CGI-23

NCBI Gene: 25980 ENSG00000131043 UniProt: Q9Y312 OMIM: 617365

This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.35

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.35LOEUF

pLI 0.000

Z-score 0.71

OE 0.77 (0.47–1.35)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.86Z-score

OE missense 0.84 (0.74–0.95)

190 obs / 226.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.77 (0.47–1.35)

0≤0.351.4

Missense OE?0.84 (0.74–0.95)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 9 / 11.6Missense obs/exp: 190 / 226.2Syn Z: 0.79

Background carrier burden — how many people carry a rare variant somewhere in AAR2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 65

563 rare PASS variants

Rare truncating (LoF)

1 in 290

94 rare PASS variants

Rare synonymous (reference)

1 in 85

237 rare PASS variants

Rare missense and truncating variants are carried at similar rates in AAR2; this gene does not show strong loss-of-function constraint by this measure. 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 100	1 in 250
South Asian	~43k	1 in 63	1 in 280
Remaining (unassigned)	~30k	1 in 57	1 in 220
European (Finnish)	~27k	1 in 460	1 in 760
Admixed American	~22k	1 in 69	1 in 230
African / African American	~21k	1 in 78	1 in 400
East Asian	~20k	1 in 140	1 in 510
Ashkenazi Jewish	~13k	1 in 270	1 in 570
Middle Eastern	~2,884	1 in 78	1 in 270

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.