ARPP19

Chr 15

cAMP regulated phosphoprotein 19

Also known as: ARPP-16, ARPP-19, ARPP16, ENSAL

NCBI Gene: 10776 ENSG00000128989 UniProt: P56211 OMIM: 605487

The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[supplied by OMIM, Feb 2011]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.61

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.61LOEUF

pLI 0.774

Z-score 2.06

OE 0.00 (0.00–0.61)

Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?

1.20Z-score

OE missense 0.57 (0.43–0.76)

35 obs / 61.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.61)

0≤0.351.4

Missense OE?0.57 (0.43–0.76)

0≤0.61.4

Synonymous OE?1.34

0≤1.21.6

LoF obs/exp: 0 / 4.9Missense obs/exp: 35 / 61.5Syn Z: -1.30

Background carrier burden — how many people carry a rare variant somewhere in ARPP19?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 930

137 rare PASS variants

Rare truncating (LoF)

1 in 5,600

32 rare PASS variants

Rare synonymous (reference)

1 in 540

61 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ARPP19. 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 1,000	1 in 6,000
South Asian	~43k	1 in 500	≈ 1 in 20,000
Remaining (unassigned)	~30k	1 in 920	≈ 1 in 9,700
European (Finnish)	~27k	1 in 1,300	1 in 3,200
Admixed American	~22k	1 in 1,300	≈ 1 in 19,000
African / African American	~21k	1 in 860	1 in 900
East Asian	~20k	1 in 910	1 in 1,800
Ashkenazi Jewish	~13k	1 in 1,400	none seen
Middle Eastern	~2,884	≈ 1 in 1,400	none seen

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): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓