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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]
MIR4721 (MicroRNA 4721) is an RNA Gene, and is affiliated with the miRNA class. Diseases associated with MIR4721 include Retinitis Pigmentosa 41 and Retinitis Pigmentosa 27. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH16J028844 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 0.7 | -2.3 | -2254 | 3.1 | SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 TFE3 SIX5 | TUFM SH2B1 ATXN2L NFATC2IP ENSG00000260853 SPNS1 SMG1P2 NPIPB12 ENSG00000260367 ENSG00000198106 | |
GH16J028839 | Enhancer | 0.6 | Ensembl | 0.7 | +3.8 | 3807 | 1.2 | POLR2A RBFOX2 NR2C1 ZNF600 NFE2 ZBTB17 MAFG ZNF395 SPI1 ZNF584 | TUFM ENSG00000260570 MIR4721 ATXN2L | |
GH16J028837 | Enhancer | 0.5 | Ensembl | 0.4 | +6.2 | 6206 | 0.4 | IKZF1 POLR2A RBM22 SUPT5H SSRP1 PAF1 ZBTB12 POLR2B | ENSG00000260570 MIR4721 TUFM ATXN2L |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mitochondrial translation | ||
2 | Organelle biogenesis and maintenance |
RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
---|---|---|---|---|
URS000075EF66_9606 | precursor_RNA | 89 | 4 |
HGNC: 41609, RefSeq: NR_039872, Ensembl: ENST00000577590 (view in UCSC) , miRBase: MI0017356, |
URS000036D67C_9606 | miRNA | 22 | 3 |
RefSeq: NR_039872, miRBase: MIMAT0019835, ENA: FR773000.1:1..22:ncRNA, |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
741249 | Likely Benign: not provided | 28,843,941(-) | A/C | NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2830n100 | CNV | gain | 25217958 |
dgv2831n100 | CNV | gain | 25217958 |
dgv4987n54 | CNV | gain | 21841781 |
dgv502e214 | CNV | loss | 21293372 |
esv2758640 | CNV | gain+loss | 17122850 |
esv3570454 | CNV | gain | 25503493 |
esv3638348 | CNV | gain | 21293372 |
esv3892826 | CNV | gain+loss | 25118596 |
nsv1059555 | CNV | gain | 25217958 |
nsv1064483 | CNV | loss | 25217958 |
nsv518648 | CNV | loss | 19592680 |
nsv519100 | CNV | gain | 19592680 |
nsv571805 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 41 |
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retinitis pigmentosa 27 |
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usher syndrome, type ig |
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