MIR548BB (microRNA 548bb) - Rat Genome Database

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Gene: MIR548BB (microRNA 548bb) Homo sapiens
Analyze
Symbol: MIR548BB
Name: microRNA 548bb
RGD ID: 9685103
HGNC Page HGNC:50834
Description: 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]
Type: ncrna (Ensembl: miRNA)
RefSeq Status: PROVISIONAL
Previously known as: hsa-mir-548bb; MI0029321
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38360,617,805 - 60,617,870 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl360,617,805 - 60,617,870 (-)EnsemblGRCh38hg38GRCh38
GRCh37360,603,538 - 60,603,603 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3p14.2NCBI
CHM1_1360,554,006 - 60,554,071 (-)NCBICHM1_1
T2T-CHM13v2.0360,660,419 - 60,660,484 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
schizophrenia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:16381832   PMID:24556720  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1 copy number loss See cases [RCV000139570] Chr3:57430538..64884522 [GRCh38]
Chr3:57416265..64870197 [GRCh37]
Chr3:57391305..64845237 [NCBI36]
Chr3:3p14.3-14.1		 pathogenic
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1		 pathogenic
GRCh38/hg38 3p14.2(chr3:59743673-60984329)x3 copy number gain See cases [RCV000051471] Chr3:59743673..60984329 [GRCh38]
Chr3:59729399..60970001 [GRCh37]
Chr3:59704439..60945041 [NCBI36]
Chr3:3p14.2		 uncertain significance
GRCh38/hg38 3p14.2(chr3:60611688-61007410)x1 copy number loss See cases [RCV000136701] Chr3:60611688..61007410 [GRCh38]
Chr3:60572461..60968122 [NCBI36]
Chr3:3p14.2		 uncertain significance
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1		 pathogenic
GRCh38/hg38 3p14.2(chr3:60102627-60855742)x1 copy number loss See cases [RCV000051042] Chr3:60102627..60855742 [GRCh38]
Chr3:60088353..60830769 [GRCh37]
Chr3:60063393..60816454 [NCBI36]
Chr3:3p14.2		 uncertain significance
NC_000003.12:g.(?_60408194)_(60672864_?)del deletion Schizophrenia [RCV000754285] Chr3:60408194..60672864 [GRCh38]
Chr3:3p14.2		 likely pathogenic
NC_000003.12:g.(?_60438915)_(60817364_?)del deletion Schizophrenia [RCV000754286] Chr3:60438915..60817364 [GRCh38]
Chr3:3p14.2		 likely pathogenic

Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system entire extraembryonic component
High
Medium
Low 3 2 5 2 27 2 4 3 5 3 1 2
Below cutoff 3 1 16 6 1 7 3 6 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000626714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl360,617,805 - 60,617,870 (-)Ensembl
RefSeq Acc Id: NR_128708
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38360,617,805 - 60,617,870 (-)NCBI
CHM1_1360,554,006 - 60,554,071 (-)NCBI
T2T-CHM13v2.0360,660,419 - 60,660,484 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC MIR548BB COSMIC
Ensembl Genes ENSG00000281426 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000626714 ENTREZGENE
GTEx ENSG00000281426 GTEx
HGNC ID HGNC:50834 ENTREZGENE
Human Proteome Map MIR548BB Human Proteome Map
miRBase MI0029321 ENTREZGENE
NCBI Gene MIR548BB ENTREZGENE
RNAcentral URS00007E3B9B RNACentral
  URS00007E408D RNACentral
  URS00007E4A05 RNACentral