PATL1

Chr 11

PAT1 homolog 1, processing body mRNA decay factor

Also known as: Pat1b, hPat1b

NCBI Gene: 219988 ENSG00000166889 UniProt: Q86TB9 OMIM: 614660

Enables poly(G) binding activity and poly(U) RNA binding activity. Involved in P-body assembly and deadenylation-dependent decapping of nuclear-transcribed mRNA. Located in CCR4-NOT complex and P-body. [provided by Alliance of Genome Resources, Jun 2026]

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

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.32LOEUF

pLI 0.964

Z-score 5.16

OE 0.18 (0.10–0.32)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.44Z-score

OE missense 0.66 (0.60–0.73)

278 obs / 418.3 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.18 (0.10–0.32)

0≤0.351.4

Missense OE?0.66 (0.60–0.73)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 8 / 45.6Missense obs/exp: 278 / 418.3Syn Z: 0.34

Background carrier burden — how many people carry a rare variant somewhere in PATL1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 79

810 rare PASS variants

Rare truncating (LoF)

1 in 2,200

69 rare PASS variants

Rare synonymous (reference)

1 in 120

354 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PATL1. 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 110	1 in 2,300
South Asian	~43k	1 in 75	1 in 1,300
Remaining (unassigned)	~30k	1 in 68	1 in 1,800
European (Finnish)	~27k	1 in 200	≈ 1 in 6,500
Admixed American	~22k	1 in 64	1 in 1,000
African / African American	~21k	1 in 85	≈ 1 in 5,300
East Asian	~20k	1 in 120	1 in 2,200
Ashkenazi Jewish	~13k	1 in 520	1 in 1,400
Middle Eastern	~2,884	1 in 64	≈ 1 in 2,900

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): 16 of 19 coding exons well covered in gnomAD exomes; exon 1 poorly covered; exons 7, 13 marginal. Genomes: 18 of 19 (exon 7 below).? see exons ↓