DICER1

Chr 14AD

dicer 1, ribonuclease III

Also known as: DCR1, Dicer, Dicer1e, GLOW, HERNA, K12H4.8-LIKE, MNG1, RMSE2

This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. This protein also acts as a strong antiviral agent with activity against RNA viruses, including the Zika and SARS-CoV-2 viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2021]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

GLOW syndrome, somatic mosaicMIM #618272
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumorsMIM #138800
AD
Pleuropulmonary blastomaMIM #601200
AD
Rhabdomyosarcoma, embryonal, 2MIM #180295
UniProtGoiter multinodular 1, with or without Sertoli-Leydig cell tumors
UniProtGlobal developmental delay, lung cysts, overgrowth, and Wilms tumor

Clinical highlights

Gene-disease validity (ClinGen)
DICER1-related tumor predisposition · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
6
Active trials
282
Pubs (1 yr)
P/LP submissions
P/LP missense
0.17
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — DICER1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint?
0.17LOEUF
pLI 1.000
Z-score 7.85
OE 0.09 (0.050.17)
Highly constrained

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

Missense Constraint?
4.23Z-score
OE missense 0.62 (0.580.67)
626 obs / 1002.6 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.09 (0.050.17)
00.351.4
Missense OE?0.62 (0.580.67)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 8 / 87.0Missense obs/exp: 626 / 1002.6Syn Z: -0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DICER1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.