Specific Information of Variant: 1-203627190-A-G
Related Small Proteins
| SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
|---|
| SPROHSA73982 | 37 | AGG | + | 203627076-203627190 | Stop Loss p.*38W |
| SPROHSA179558 | 9 | ATG | + | 203627160-203627190 | Stop Loss p.*10W |
| SPROHSA257642 | 86 | CTG | + | 203627008-203627219,203682741-203682791 | Non-Synonymous p.E61G |
| SPROHSA303150 | 23 | CTG | + | 203627118-203627190 | Stop Loss p.*24W |
| SPROHSA388937 | 27 | TTG | + | 203627106-203627190 | Stop Loss p.*28W |
Data sources
| Source | Allele Count | Allele Frequency |
|---|
| gnomAD3 | 112950 | 0.78829 |
| 1KGP3 | 3518 | 0.70248 |
| TOPMed | 97060 | 0.77297 |
| GAsP | 2394 | 0.688 |
| NyuWa | 3650 | 0.60854 |
| Ribosome profiling | SRR3208885; SRR3208921; SRR4045276; SRR5047770; SRR5047771; SRR5047772; SRR5239056; SRR5239058; SRR5350745; SRR5382423; SRR6053333; SRR7207252; SRR8907185; SRR8907187; SRR8310196; SRR8310197; SRR8310201; SRR8310198; SRR8310199; SRR8310200; SRR8310205; SRR627622; SRR627623; SRR627625; SRR627626; SRR627627; SRR810100; SRR810101; SRR810102; SRR810103; SRR810104; SRR1795425; SRR964946 |
5'UTR Effect
| Variant Type | uSTOP_lost |
| Gene | ATP2B4 |
| Context | CTGAAGA |
| Kozak Sequence | . |
| Kozak Strength | Moderate |
| Effect | uORF_elongated |
| Distance to CDS | . |
| Distance to Alt Stop | 21 |