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 |
|---|---|---|---|
| RS1024226278 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1032236740 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Pleuropulmonary blastoma, Euthyroid goiter |
| RS1045097916 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1047347414 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1060503601 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1060503614 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS1060503616 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1060503631 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1060503632 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1060503647 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1060503649 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related disorder |
| RS1060503652 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
| RS1060503655 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
| RS1060504977 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1060504978 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1060504983 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1060504987 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related disorder |
| RS1167073557 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
| RS117358479 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Breast neoplasm |
| RS1178414622 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1183908844 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1219156713 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1222162167 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1225486613 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1238231746 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1249693564 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1257498722 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1262516728 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1267003109 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
| RS1274642595 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1277796753 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1278843875 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1287752405 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1300692476 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1312425649 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1313430297 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1325355975 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1336108562 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1345404696 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1347754955 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1358609309 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS1368444664 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1369399401 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1376668585 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS1377011929 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS1379402448 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS138308365 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related disorder |
| RS139346443 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
| RS1407338094 | Health Risk | Conflicting classifications of pathogenicity | DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS140969547 | Health Risk | Conflicting classifications of pathogenicity | — |