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Detailed information for vg1223130894:

Variant ID: vg1223130894 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23130894
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 404. )

Flanking Sequence (100 bp) in Reference Genome:


TAGCGCCCTGGCGGCTGCCTCGACTCCCTTTGGCGTGCTCCGGTGAGGCAAAATGACAAAAAAAACCTTCTCCGGCAAGCAGCGGATGATGGCGAGCATC[G/A]
CTTGGCAGCGTTGCGTCGTCTACGGACTCAGGCGGCTCGACGACGTCCCCGACAACTCCGACGAGATGGCTTGCGACGTGGCTGGAGCTGGTGACGCCTT

Reverse complement sequence

AAGGCGTCACCAGCTCCAGCCACGTCGCAAGCCATCTCGTCGGAGTTGTCGGGGACGTCGTCGAGCCGCCTGAGTCCGTAGACGACGCAACGCTGCCAAG[C/T]
GATGCTCGCCATCATCCGCTGCTTGCCGGAGAAGGTTTTTTTTGTCATTTTGCCTCACCGGAGCACGCCAAAGGGAGTCGAGGCAGCCGCCAGGGCGCTA

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 95.00% 0.10% 1.82% 3.05% NA
All Indica  2759 99.00% 0.00% 0.98% 0.04% NA
All Japonica  1512 88.60% 0.30% 3.31% 7.80% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 96.80% 0.00% 3.23% 0.00% NA
Indica III  913 98.90% 0.00% 0.99% 0.11% NA
Indica Intermediate  786 99.60% 0.00% 0.38% 0.00% NA
Temperate Japonica  767 94.70% 0.70% 2.48% 2.22% NA
Tropical Japonica  504 83.10% 0.00% 3.97% 12.90% NA
Japonica Intermediate  241 80.50% 0.00% 4.56% 14.94% NA
VI/Aromatic  96 66.70% 0.00% 8.33% 25.00% NA
Intermediate  90 97.80% 0.00% 1.11% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223130894 G -> DEL LOC_Os12g37680.1 N frameshift_variant Average:87.215; most accessible tissue: Minghui63 flag leaf, score: 99.596 N N N N
vg1223130894 G -> A LOC_Os12g37680.1 missense_variant ; p.Ala17Thr; MODERATE nonsynonymous_codon ; A17T Average:87.215; most accessible tissue: Minghui63 flag leaf, score: 99.596 unknown unknown TOLERATED 0.09

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)
vg1223130894 G A -0.03 -0.02 -0.01 -0.01 -0.02 -0.02