MMAA基因非编码区变异叠加单亲二体所致甲基丙二酸血症的多组学分析
Multi-omics analysis of methylmalonic acidemia caused by a non-coding region variant in MMAA gene combined with uniparental disomy
Note： Prediction of base pair resolution strand-specific transcription initiation signal at chr4:146540561. The x-axis indicates the position relative to the annotated transcription start site and the y-axis is shown on a Log10 scale. Motif activation: motif activation stands for base pair motif contribution scores to motif activation, and motif contribution score represents the amount of contribution from a motif type to any position or window in the sequence. Motif effects: effects of the U1 small nuclear ribonucleoprotein (U1 snRNP) motif. Prediction: TSS prediction. Solid arrow: this site was located within the binding domain for the U1 small nuclear RNA (U1 snRNA). Hollow arrow: Puffin software predicted this site to be the transcription initiation site of the MMAA gene.
