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Detailed information for vg0226053379:

Variant ID: vg0226053379 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 26053379
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCGACGGGTGCGCGAACGCGGCGCCTGGGACCGCGCCGGACACCGCATTGCCCGTGAGGTCGAGCACCCGCATCGCGGGCAGGGCGGCCAGCGCCGCGGC[C/A]
TGCAGCGGCCCCGCGAAGCCGTTGCCGCGCGCCACGACGGAGACGAGCGAGCCCGGCAGCCGCCCGGGCGCGTCGAGGAGCGAGCCGGACAGCGCGTTGC

Reverse complement sequence

GCAACGCGCTGTCCGGCTCGCTCCTCGACGCGCCCGGGCGGCTGCCGGGCTCGCTCGTCTCCGTCGTGGCGCGCGGCAACGGCTTCGCGGGGCCGCTGCA[G/T]
GCCGCGGCGCTGGCCGCCCTGCCCGCGATGCGGGTGCTCGACCTCACGGGCAATGCGGTGTCCGGCGCGGTCCCAGGCGCCGCGTTCGCGCACCCGTCGC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 93.40% 0.70% 5.12% 0.80% NA
All Indica  2759 99.70% 0.00% 0.25% 0.04% NA
All Japonica  1512 81.50% 2.20% 14.09% 2.18% 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 99.60% 0.00% 0.43% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 99.20% 0.00% 0.64% 0.13% NA
Temperate Japonica  767 73.90% 0.00% 22.82% 3.26% NA
Tropical Japonica  504 88.50% 6.70% 3.37% 1.39% NA
Japonica Intermediate  241 90.90% 0.00% 8.71% 0.41% NA
VI/Aromatic  96 76.00% 0.00% 20.83% 3.12% NA
Intermediate  90 96.70% 0.00% 2.22% 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
vg0226053379 C -> A LOC_Os02g43250.1 missense_variant ; p.Gln262His; MODERATE nonsynonymous_codon ; Q262H Average:92.713; most accessible tissue: Zhenshan97 panicle, score: 98.901 unknown unknown TOLERATED 0.12
vg0226053379 C -> DEL LOC_Os02g43250.1 N frameshift_variant Average:92.713; 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)
vg0226053379 C A -0.02 -0.03 -0.02 -0.03 -0.02 -0.02