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Detailed information for vg0233405315:

Variant ID: vg0233405315 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 33405315
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.97, T: 0.03, others allele: 0.00, population size: 94. )

Flanking Sequence (100 bp) in Reference Genome:


CCAGGTCGGGGTGCCGCCGCTGCGGTGGGACGAGAGGCTGGCGTCGTACGCGGCGCGGTACGCGGCGGCGCGGAGCGGCGCCGGCGGCGGCTGCGCGCTG[G/T]
TGCACTCGCACGGGCCGTACGGGGAGAACCTGTTCCACGGCAGCGGCGTCGGGTGGGCGCCCGCGGACGTGGTGGCGGCGTGGGTGTCGCGGGAGCGCGC

Reverse complement sequence

GCGCGCTCCCGCGACACCCACGCCGCCACCACGTCCGCGGGCGCCCACCCGACGCCGCTGCCGTGGAACAGGTTCTCCCCGTACGGCCCGTGCGAGTGCA[C/A]
CAGCGCGCAGCCGCCGCCGGCGCCGCTCCGCGCCGCCGCGTACCGCGCCGCGTACGACGCCAGCCTCTCGTCCCACCGCAGCGGCGGCACCCCGACCTGG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 26.70% 20.40% 36.08% 16.80% NA
All Indica  2759 16.60% 34.50% 33.96% 14.93% NA
All Japonica  1512 32.50% 0.10% 45.17% 22.16% NA
Aus  269 98.10% 0.40% 0.74% 0.74% NA
Indica I  595 2.40% 23.70% 58.99% 14.96% NA
Indica II  465 5.80% 24.70% 41.94% 27.53% NA
Indica III  913 28.10% 50.80% 13.25% 7.78% NA
Indica Intermediate  786 20.20% 29.60% 34.35% 15.78% NA
Temperate Japonica  767 16.80% 0.30% 57.63% 25.29% NA
Tropical Japonica  504 53.80% 0.00% 27.98% 18.25% NA
Japonica Intermediate  241 38.20% 0.00% 41.49% 20.33% NA
VI/Aromatic  96 30.20% 0.00% 39.58% 30.21% NA
Intermediate  90 23.30% 8.90% 50.00% 17.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0233405315 G -> T LOC_Os02g54530.1 missense_variant ; p.Val83Leu; MODERATE nonsynonymous_codon ; V83L Average:89.213; most accessible tissue: Zhenshan97 panicle, score: 98.901 benign 0.181 TOLERATED 0.35
vg0233405315 G -> DEL LOC_Os02g54530.1 N frameshift_variant Average:89.213; most accessible tissue: Zhenshan97 panicle, score: 98.901 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)
vg0233405315 G T -0.01 -0.02 -0.02 -0.01 -0.01 -0.02