Specific Information of Variant: 21-43658154-C-T
Related Small Proteins
| SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
|---|
| SPROHSA77998 | 57 | AGG | - | 43658073-43658247 | Non-Synonymous p.V32M |
| SPROHSA234589 | 57 | ATT | - | 43656679-43656737,43658060-43658176 | Non-Synonymous p.R8H |
| SPROHSA235490 | 74 | ATT | - | 43656679-43656737,43658060-43658227 | Non-Synonymous p.R25H |
| SPROHSA273594 | 53 | CTG | - | 43658073-43658235 | Non-Synonymous p.V28M |
Data sources
| Source | Allele Count | Allele Frequency |
|---|
| gnomAD3 | 83008 | 0.57966 |
| 1KGP3 | 3178 | 0.63458 |
| TOPMed | 72433 | 0.57684 |
| GAsP | 2542 | 0.731 |
| NyuWa | 4474 | 0.74592 |
| Ribosome profiling | SRR5382423; SRR6053333; SRR3680966; SRR3680967; SRR618771; SRR618773 |
5'UTR Effect
| Variant Type | uAUG_gained |
| Gene | HSF2BP |
| Context | TCACGCC |
| Kozak Sequence | GGCATGA |
| Kozak Strength | Moderate |
| Effect | out-of-frame_oORF |
| Distance to CDS | 58 |
| Distance to Alt Stop | . |