This section will explain the all parameters in SBSA tool and how to operate and interpret results.
Input
Other Input
Options
Output
Fields in all output CSV files:
Header | Meaning |
Bind_seq | Oligo nucleotide sequence bound by a molecular regulator (TF/RBP). |
Chromosome | Chromosome where a variant is located. |
eQTL_gene (FineMapping) | Fine-Mapping-endorsed Ensembl gene ID of the regulated gene involved in the eQTL relation. |
eQTL_gene (GTEx) | GTEx-endorsed Ensembl gene ID of the regulated gene involved in the eQTL relation. |
eQTL_pos.prob (CAVIAR) | Posterial probability of eQTL association inferred by a "Fine Mapping" method (see more information on GTEx page). |
Family_Conservation | TargetScan-defined miRNA conservation category (broadly conserved, conserved, poorly conserved, or “other”). |
GTEx_variant | Variant ID as identified in GTEx datasets. |
Host_gene | Symbol of the host gene whose body encloses or approximates the variant. |
Location | Chromosome coordinate position of a variant. |
MiRBase_ID | miRNA ID identified in miRBase. |
miRNA_family | miRNA conservation family. |
miRNAtarget.alt | miRNA target sequence in mRNA 3'-UTR carrying the variant. |
miRNAtarget.ref | miRNA target sequence in mRNA 3'-UTR in the reference genome. |
miRNAtarget_gene | Gene Symbol of the associated mRNA target of the miRNA. |
miRNAtarget_geneID | Ensembl gene ID of the associated mRNA target of the miRNA. |
Motif | ID of the plausible motif originating from the PWM file. |
Motif_effect | Gain or Loss of the plausible motif resulting from the variant. |
p.alt (FIMO) | P-value for the approximity between altered sequence (Seq.alt) and the PWM motif. |
p.ref (FIMO) | P-value for the approximity between reference sequence (Seq.ref) and the PWM motif. |
Region | Gene-relative classification of the genomic region enclosing the variant. Typical values include exonic, intronic, upstream, etc. |
Regulator_context_expression | Contextual expression of plausible molecular regulator (TF/RBP), expressed as rank of the regulator in the GTEx transcriptomes. |
Regulator_gene | Symbol of the molecular regulator that binds with the plausible motif. |
Regulator_geneID | Ensembl gene ID of the molecular regulator that binds with the plausible motif. |
Seed.alt | miRNA seed sequence carrying the variant. |
Seed.ref | miRNA seed sequence in the reference genome. |
Seq.alt | Altered sequence in parallel to Reference Sequence reflecting the variant in question. |
Seq.ref | Reference sequence surrounding the variant location reflecting the reference genome. |
Species_ID | Taxonomy ID of the species of the concerned miRNA. |
Strand | Strandedness of the plausible motif or miRNA-related segments. |
Tissue | The tissue concerned in Contextual expression or eQTL information. |
Variant | Nucleotide change at a chromosome location as relative to the reference genome. |
Variant_impact (CADD_phred) | Functional impact of the variant predicted by a sequence or conservation based algorithm. |