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 |
|---|---|---|---|
| RS2542709383 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542709920 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542716203 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542718326 | Health Risk | Pathogenic | — |
| RS2542718911 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542719039 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542750103 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542750613 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542752936 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542753101 | Health Risk | Pathogenic | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS2542755667 | Health Risk | Pathogenic | — |
| RS2542773787 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542774587 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542776151 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542829152 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542830314 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542841424 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542842847 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542853572 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542854146 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542856448 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2542912815 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542913539 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS2542951728 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2542951865 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543059779 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543062387 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543062487 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543177794 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543178404 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543179169 | Health Risk | Pathogenic | — |
| RS2543179941 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543180159 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543182907 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS2543187534 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543187841 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543227368 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543228849 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543228908 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543230737 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543280318 | Health Risk | Pathogenic | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS2543283130 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543283985 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543285034 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543300182 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543303455 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543342690 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS2543343522 | Health Risk | Pathogenic | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS2543366632 | Health Risk | Pathogenic | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS34678453 | Health Risk | Pathogenic | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |