Gene: SON

Alternate names for this Gene: BASS1|C21orf50|DBP-5|NREBP|SON3|TOKIMS

Gene Summary: This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.11

Description of this Gene: SON DNA and RNA binding protein

Type of Gene: protein-coding

Gene: MIR6501

Alternate names for this Gene: hsa-mir-6501|mir-6501

Gene 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.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.11

Description of this Gene: microRNA 6501

Type of Gene: ncRNA

rs886039777 in SON;MIR6501 gene and Global developmental delay PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

rs886039777 in SON;MIR6501 gene and Pediatric failure to thrive PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.