DROSHA
drosha ribonuclease III, the group of Endoribonucleases
Basic information
Region (hg38): 5:31400494-31532196
Previous symbols: [ "RNASEN" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (95 variants)
- DROSHA-related_disorder (69 variants)
- not_provided (23 variants)
- Pineoblastoma (7 variants)
- Hepatoblastoma (2 variants)
- Pyloric_stenosis (1 variants)
- Abnormality_of_neuronal_migration (1 variants)
- Hereditary_breast_ovarian_cancer_syndrome (1 variants)
- DROSHA-related_neurodevelopmental_disorder (1 variants)
- Esophageal_atresia (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DROSHA gene is commonly pathogenic or not. These statistics are base on transcript: NM_001382508.1. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 32 | 38 | ||||
| missense | 113 | 126 | ||||
| nonsense | 4 | |||||
| start loss | 0 | |||||
| frameshift | 5 | |||||
| splice donor/acceptor (+/-2bp) | 3 | |||||
| Total | 10 | 0 | 117 | 39 | 10 |
Highest pathogenic variant AF is 0.00000344142
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DROSHA | protein_coding | protein_coding | ENST00000511367 | 33 | 131700 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0932 | 0.907 | 124604 | 0 | 35 | 124639 | 0.000140 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.98 | 469 | 783 | 0.599 | 0.0000446 | 9080 |
| Missense in Polyphen | 37 | 168.94 | 0.21901 | 1775 | ||
| Synonymous | 0.884 | 253 | 272 | 0.932 | 0.0000153 | 2529 |
| Loss of Function | 6.45 | 20 | 83.7 | 0.239 | 0.00000511 | 922 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000616 | 0.000610 |
| Ashkenazi Jewish | 0.000402 | 0.000398 |
| East Asian | 0.000111 | 0.000111 |
| Finnish | 0.0000929 | 0.0000928 |
| European (Non-Finnish) | 0.000117 | 0.000115 |
| Middle Eastern | 0.000111 | 0.000111 |
| South Asian | 0.000103 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Ribonuclease III double-stranded (ds) RNA-specific endoribonuclease that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DROSHA cleaves the 3' and 5' strands of a stem-loop in pri-miRNAs (processing center 11 bp from the dsRNA- ssRNA junction) to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs. Involved also in pre-rRNA processing. Cleaves double- strand RNA and does not cleave single-strand RNA. Involved in the formation of GW bodies. {ECO:0000269|PubMed:10948199, ECO:0000269|PubMed:14508493, ECO:0000269|PubMed:15531877, ECO:0000269|PubMed:15565168, ECO:0000269|PubMed:15574589, ECO:0000269|PubMed:15589161, ECO:0000269|PubMed:16751099, ECO:0000269|PubMed:16906129, ECO:0000269|PubMed:17159994, ECO:0000269|PubMed:26027739, ECO:0000269|PubMed:26748718}.;
- Pathway
- Ribosome biogenesis in eukaryotes - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);miRNA Biogenesis;RNA interference;DDX1 as a regulatory component of the Drosha microprocessor;Gene expression (Transcription);Direct p53 effectors;MicroRNA (miRNA) biogenesis;Gene Silencing by RNA
(Consensus)
Recessive Scores
- pRec
- 0.255
Intolerance Scores
- loftool
- rvis_EVS
- -0.46
- rvis_percentile_EVS
- 23.66
Haploinsufficiency Scores
- pHI
- 0.609
- hipred
- Y
- hipred_score
- 0.652
- ghis
- 0.612
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Drosha
- Phenotype
- integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); cellular phenotype; muscle phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype; immune system phenotype; digestive/alimentary phenotype;
Zebrafish Information Network
- Gene name
- drosha
- Affected structure
- vasculature
- Phenotype tag
- abnormal
- Phenotype quality
- increased permeability
Gene ontology
- Biological process
- RNA processing;miRNA metabolic process;positive regulation of gene expression;rRNA catabolic process;production of siRNA involved in RNA interference;primary miRNA processing;pre-miRNA processing;ribosome biogenesis;regulation of regulatory T cell differentiation;regulation of inflammatory response;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;RNA phosphodiester bond hydrolysis, endonucleolytic;regulation of miRNA metabolic process
- Cellular component
- nucleus;nucleoplasm;nucleolus;postsynaptic density;microprocessor complex
- Molecular function
- lipopolysaccharide binding;RNA binding;double-stranded RNA binding;ribonuclease III activity;protein binding;DEAD/H-box RNA helicase binding;protein homodimerization activity;SMAD binding;metal ion binding;R-SMAD binding;primary miRNA binding