| Variant ID | 29102 |
|---|---|
| Entrez Gene ID | 100302290 |
| Gene | MIR1973 (GeneCards) |
| Location | hg19 4:117374794-117374794
hg38 4:116453638-116453638 |
| Disease | Asymptomatic |
| Method | Ultra deep amplicon Sequencing |
| Mutation(HGVS format) | NC_000004.11:g.117374794 C>T (Genome Assembly: hg19) |
| Exon or Intron | Intron |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3365 |
| CADD Raw score (version 1.3) | -0.222555 (Deleterious) |
| FATHMM raw prediction score | 0.06532 (Tolerated) |
| Deleterious probability by DeFine | 0.0723 (Neutral) |
| Entrez Gene ID | 100302290 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MIR1973 (GeneCards) |
| Number of variants in MIR1973 in this database | 9 (view all the variants) |
| Full name | microRNA 1973 |
| Band | 4q26 |
| Other IDs | miRBase: MI0009983 HGNC: HGNC:37061 Ensembl: ENSG00000284253 |
| Other names | mir-1973, hsa-mir-1973 |
| Summary | microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] |
| Individual ID | 29283202.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29283202 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29283202 |
|---|---|
| Title | Identification of somatic mutations in postmortem human brains by whole genome sequencing and their implications for psychiatric disorders. |
| Journal | Psychiatry Clin Neurosci |
| Publication date | 2018.04 |
| Disease | Asymptomatic |
| Population | Caucasian;Japanese |
| Number of cases | cases of unknown sex: 3; |