DIS3L

Chr 15

DIS3 like exosome 3'-5' exoribonuclease

Also known as: DIS3L1

NCBI Gene: 115752 ENSG00000166938 UniProt: Q8TF46 OMIM: 614183

The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in DIS3L?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 58

1,298 rare PASS variants

Rare truncating (LoF)

1 in 520

235 rare PASS variants

Rare synonymous (reference)

1 in 120

457 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DIS3L. 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 66	1 in 640
South Asian	~43k	1 in 44	1 in 450
Remaining (unassigned)	~30k	1 in 36	1 in 400
European (Finnish)	~27k	1 in 98	1 in 860
Admixed American	~22k	1 in 47	1 in 450
African / African American	~21k	1 in 35	1 in 520
East Asian	~20k	1 in 52	1 in 430
Ashkenazi Jewish	~13k	1 in 210	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 53	≈ 1 in 630

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.