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Detailed information for vg0620020799:

Variant ID: vg0620020799 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 20020799
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.98, A: 0.02, others allele: 0.00, population size: 85. )

Flanking Sequence (100 bp) in Reference Genome:


GCGGGCGCCGTCGCCGTCGCGGTCGCGCTCCTCCTGCTGGCGCTCGCCGGCAGGCTGGCGCAGACGACGGGAGGAGGCTCCGCCGCGGCGGCGGCGTCGG[G/A]
GCGGCGGCGGCGGCTGCTGAGCTGCCCGTGCGCGTGCGGGCTGATGGCGCCCGGCGCGGGGGGGATCGGCGTGCTGCCGGCGTTCGCGTACGAGCCCGGC

Reverse complement sequence

GCCGGGCTCGTACGCGAACGCCGGCAGCACGCCGATCCCCCCCGCGCCGGGCGCCATCAGCCCGCACGCGCACGGGCAGCTCAGCAGCCGCCGCCGCCGC[C/T]
CCGACGCCGCCGCCGCGGCGGAGCCTCCTCCCGTCGTCTGCGCCAGCCTGCCGGCGAGCGCCAGCAGGAGGAGCGCGACCGCGACGGCGACGGCGCCCGC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 41.30% 28.40% 15.76% 14.52% NA
All Indica  2759 32.00% 46.50% 10.33% 11.20% NA
All Japonica  1512 47.40% 1.90% 26.79% 23.94% NA
Aus  269 99.60% 0.00% 0.00% 0.37% NA
Indica I  595 15.80% 47.60% 22.02% 14.62% NA
Indica II  465 22.40% 41.90% 13.12% 22.58% NA
Indica III  913 50.70% 45.50% 2.30% 1.53% NA
Indica Intermediate  786 28.20% 49.50% 9.16% 13.10% NA
Temperate Japonica  767 28.00% 0.80% 37.81% 33.38% NA
Tropical Japonica  504 66.50% 3.00% 16.67% 13.89% NA
Japonica Intermediate  241 69.30% 2.90% 12.86% 14.94% NA
VI/Aromatic  96 55.20% 10.40% 33.33% 1.04% NA
Intermediate  90 36.70% 23.30% 25.56% 14.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0620020799 G -> A LOC_Os06g34400.1 missense_variant ; p.Gly317Glu; MODERATE nonsynonymous_codon ; G317E Average:90.222; most accessible tissue: Minghui63 panicle, score: 98.004 unknown unknown TOLERATED 0.17
vg0620020799 G -> DEL LOC_Os06g34400.1 N frameshift_variant Average:90.222; most accessible tissue: Minghui63 panicle, score: 98.004 N N N N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0620020799 G A -0.03 -0.03 -0.04 -0.02 -0.02 -0.01