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Detailed information for vg0208019252:

Variant ID: vg0208019252 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 8019252
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GACGGCGGCGTCGTCATGGAGCTCCACGACGCTGCGCACGACGGAGATGAAGCTGATGCTGGTCGGGAAGAACACGTACCCGGGCACGCCGAGCTCGGCG[A/G]
CGAGCGCCAGGGCCGGCGTGCCGAAGAAGTCGCACACGATCGCCGCGGTGGTGGAGCCGATGCCGACGACGAGCGCGCGGAGCTGCGGGACGAAGCGGCG

Reverse complement sequence

CGCCGCTTCGTCCCGCAGCTCCGCGCGCTCGTCGTCGGCATCGGCTCCACCACCGCGGCGATCGTGTGCGACTTCTTCGGCACGCCGGCCCTGGCGCTCG[T/C]
CGCCGAGCTCGGCGTGCCCGGGTACGTGTTCTTCCCGACCAGCATCAGCTTCATCTCCGTCGTGCGCAGCGTCGTGGAGCTCCATGACGACGCCGCCGTC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 76.80% 0.30% 15.38% 7.55% NA
All Indica  2759 65.00% 0.30% 22.58% 12.07% NA
All Japonica  1512 99.30% 0.10% 0.46% 0.20% NA
Aus  269 68.80% 0.00% 25.28% 5.95% NA
Indica I  595 58.00% 0.50% 28.74% 12.77% NA
Indica II  465 65.20% 0.20% 23.44% 11.18% NA
Indica III  913 70.80% 0.20% 17.63% 11.39% NA
Indica Intermediate  786 63.60% 0.40% 23.16% 12.85% NA
Temperate Japonica  767 99.30% 0.10% 0.52% 0.00% NA
Tropical Japonica  504 99.20% 0.00% 0.60% 0.20% NA
Japonica Intermediate  241 99.20% 0.00% 0.00% 0.83% NA
VI/Aromatic  96 77.10% 2.10% 19.79% 1.04% NA
Intermediate  90 82.20% 2.20% 11.11% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0208019252 A -> G LOC_Os02g14540.1 missense_variant ; p.Val35Ala; MODERATE nonsynonymous_codon ; V35A Average:84.729; most accessible tissue: Minghui63 flag leaf, score: 91.489 benign -0.148 TOLERATED 1.00
vg0208019252 A -> DEL LOC_Os02g14540.1 N frameshift_variant Average:84.729; most accessible tissue: Minghui63 flag leaf, score: 91.489 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)
vg0208019252 A G 0.01 0.01 0.01 0.01 0.01 0.01