DICER1 Chromosome 14
Dicer 1, ribonuclease III
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What This Gene Does
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]
Gene Info
Gene Group
"Endoribonucleases|MicroRNA protein coding host genes|RISC loading complex subunits"
Locus Type
gene with protein product
Location
14q32.13
Ensembl
ENSG00000100697
Associated Conditions (37)
DICER1-related tumor predisposition
Hereditary cancer-predisposing syndrome
Pleuropulmonary blastoma
Euthyroid goiter
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
Rhabdomyosarcoma
embryonal
2
Ovarian cancer
DICER1-related disorder
Breast neoplasm
Primary intracranial sarcoma
DICER1-mutant
Sertoli-Leydig cell tumor
Follicular thyroid carcinoma
Papillary thyroid carcinoma
Cancer or benign tumor
Sarcoma
Pediatric high-grade glioma
Ovarian serous cystadenocarcinoma
+17 more conditions
Key Variants
RS1024226278
Conflicting classifications of pathogenicity
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
Health Risk
RS1032236740
Conflicting classifications of pathogenicity
DICER1-related tumor predisposition, Pleuropulmonary blastoma, Euthyroid goiter
Health Risk
RS1045097916
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
Health Risk
RS1047347414
Conflicting classifications of pathogenicity
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
Health Risk
RS1060503601
Conflicting classifications of pathogenicity
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
Health Risk
RS1060503614
Conflicting classifications of pathogenicity
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, Ovarian cancer
Health Risk
RS1060503616
Conflicting classifications of pathogenicity
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
Health Risk
RS1060503631
Conflicting classifications of pathogenicity
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
Health Risk
RS1060503632
Conflicting classifications of pathogenicity
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
Health Risk
RS1060503647
Conflicting classifications of pathogenicity
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
Health Risk
RS1060503649
Conflicting classifications of pathogenicity
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related disorder
Health Risk
RS1060503652
Conflicting classifications of pathogenicity
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
Health Risk
All Variants (929)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1595372950 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1595379448 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1595382041 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS1595391320 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1595406359 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS184830847 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS1890722878 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1891064547 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, DICER1-related tumor predisposition |
| RS1891173247 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1891190597 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1894040158 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2139972425 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140020024 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140124358 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542507892 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, DICER1-related tumor predisposition |
| RS2542719254 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS2542723228 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542840500 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related disorder, DICER1-related tumor predisposition, DICER1-related disorder |
| RS2542841694 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543033749 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543368785 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, DICER1-related disorder, Hereditary cancer-predisposing syndrome |
| RS2543388582 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, DICER1-related tumor predisposition |
| RS773822569 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS875989781 | Health Risk | Pathogenic/Likely pathogenic | Pineoblastoma, DICER1-related tumor predisposition, Pineoblastoma |
| RS886037670 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS886037691 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
| RS886037724 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS886037731 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS886037732 | Health Risk | Pathogenic/Likely pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |