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. 2019 Oct 31;20:798. doi: 10.1186/s12864-019-6139-6

Table 4.

Summary of the allelic variation observed in the putative Rdm locus region

Region Modification SNPs InDels
Non-Coding Intergenic region 143 14
Upstream 5 k 2537 683
Downstream 5 k 695 204
Coding UTR 5′ UTR 88 23
5′ UTR premature start gained 8
3′ UTR 151 46
Intron Intron 399 96
Splice region 19 2
Splice acceptor site 2
Splice donor site 1
Exon Disruptive + In-frame Deletion 3
Disruptive + In-frame Insertion 2
Frameshift 23
In-frame Deletion 5
In-frame Insertion 4
Nonsynonymous modification 248
Start lost 1
Stop retained 1
Stop gained 5
Synonymous modification 142
Total 4440 1105

Intergenic region: the variant is in an intergenic region; Upstream 5 k: SNPs detected up to 5 kb upstream of the coding region; Downstream 5 k: SNPs detected up to 5 kb downstream of the coding region; 5′ UTR: hits in the 5’UTR; 5′ UTR premature start gained: a variant in the 5’UTR produces a three-base sequence that can be a START codon; 3′ UTR: variant hits in the 3’UTR; Intron: SNPs detected within an intron; Splice region: a sequence variant in which a change has occurred within the region of the splice site, either within 1–3 bases of the exon or 3–8 bases of the intron; Splice acceptor site: the variant hits a splice acceptor site; Disruptive + In-frame Deletion: one codon is changed, and one or more codons are deleted; Disruptive + In-frame Insertion: one codon is changed, and one or many codons are inserted; Frameshift: insertion or deletion causes a frameshift; In-frame Deletion: one or many codons are deleted; In-frame Insertion: one or many codons are inserted; Start lost: variant causes start codon to be mutated into a nonstart codon; Stop G: variant causes a STOP codon; Nonsynonymous modification: SNP variants cause a codon that produces a different amino acid; within the coding region; Synonymous modification: variant causes a codon that produces the same amino acid