| Variant ID | 1261 |
|---|---|
| Entrez Gene ID | 29102 |
| Gene | DROSHA (GeneCards) |
| Location | hg19 5:31406995-31406995
hg38 5:31406888-31406888 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000005.9:g.31406995_31406995 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_013235.4 |
| mRNA length | 5424 |
| Reference length | 180915260 |
| Deleterious probability by DeFine | 0.9188 (Deleterious) |
|---|
| Entrez Gene ID | 29102 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DROSHA (GeneCards) |
| Number of variants in DROSHA in this database | 6 (view all the variants) |
| Full name | drosha ribonuclease III |
| Band | 5p13.3 |
| Other IDs | Vega: OTTHUMG00000161976 OMIM: 608828 HGNC: HGNC:17904 Ensembl: ENSG00000113360 |
| Other names | RN3, ETOHI2, RNASEN, RANSE3L, RNASE3L, HSA242976 |
| Summary | This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016] |
| Individual ID | 28867142.39 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |