BORCS8-MEF2B
BORCS8-MEF2B readthrough
Summary
This gene represents numerous read-through transcripts that span GeneID:729991 and 100271849. Many read-through transcripts are predicted to be nonsense-mediated decay (NMD) candidates, and are thought to be non-coding. Some transcripts are predicted to be capable of translation reinitiation at a downstream AUG, resulting in expression of at least one isoform of myocyte enhancer factor 2B (MEF2B) from this read-through locus. At least one additional MEF2B variant and isoform can be expressed from a downstream promoter, and is annotated on GeneID:100271849. [provided by RefSeq, Oct 2010]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs765904264 | 19:19,256,514 | T/A | — | uncertain significance |
| rs2514175088 | 19:19,256,537 | G/A | — | uncertain significance |
| rs759093437 | 19:19,256,547 | C/T | — | uncertain significance |
| rs2060019224 | 19:19,256,558 | C/G | — | uncertain significance |
| rs999239254 | 19:19,256,567 | C/G | — | uncertain significance |
| rs778357332 | 19:19,256,573 | G/A | — | uncertain significance |
| rs1178747030 | 19:19,256,582 | G/A | — | uncertain significance |
| rs369408621 | 19:19,256,609 | C/T | — | uncertain significance |
| rs762531898 | 19:19,256,678 | C/A | — | uncertain significance |
| rs570770864 | 19:19,256,720 | G/A | — | uncertain significance |
| rs764313266 | 19:19,257,606 | C/T | — | uncertain significance |
| rs1386180499 | 19:19,257,890 | G/A | — | uncertain significance |
| rs372543417 | 19:19,258,560 | G/A | — | uncertain significance |
| rs371035718 | 19:19,260,102 | C/T | — | uncertain significance |
| rs1331035530 | 19:19,261,517 | G/A | — | uncertain significance |
| rs11879715 | 19:19,261,851 | T/A | — | — |
| rs7249142 | 19:19,276,359 | A/G | intron variant | — |
| rs12975290 | 19:19,279,793 | A/T | — | — |
| rs12980955 | 19:19,283,646 | T/A | — | — |
| rs10854009 | 19:19,284,705 | A/T | — | — |
| rs10417796 | 19:19,287,072 | A/T | — | — |
| rs12972894 | 19:19,292,047 | A/G | intron variant | — |
| rs79508475 | 19:19,298,104 | G/C | upstream gene variant | — |
| rs8100480 | 19:19,299,079 | C/A | — | — |
| rs183164268 | 19:19,299,574 | C/T | upstream gene variant | — |
| rs78678276 | 19:19,300,294 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.