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Detailed information for vg0205477420:

Variant ID: vg0205477420 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 5477420
Reference Allele: TAlternative Allele: A
Primary Allele: TSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGTGTGCTTCAGCCTCACCGTCCACGACCTCCCCCGCATCCGCAGCACCACCTTCTCCCGCGCCGCGTACCCGTGCGCCTCCTGGAACTCTACCGGCACG[T/A]
TCTTTGAGATTGATCGAGAGGTTTAGCAACAACAATAAGACAGTGGAAGGCAACTCGATCAAAATGGTGGCATAGGGTGGGTGTGCTGAACAAAGCGCCT

Reverse complement sequence

AGGCGCTTTGTTCAGCACACCCACCCTATGCCACCATTTTGATCGAGTTGCCTTCCACTGTCTTATTGTTGTTGCTAAACCTCTCGATCAATCTCAAAGA[A/T]
CGTGCCGGTAGAGTTCCAGGAGGCGCACGGGTACGCGGCGCGGGAGAAGGTGGTGCTGCGGATGCGGGGGAGGTCGTGGACGGTGAGGCTGAAGCACACC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 75.50% 0.20% 14.52% 9.84% NA
All Indica  2759 58.90% 0.30% 24.18% 16.67% NA
All Japonica  1512 99.40% 0.00% 0.33% 0.26% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 40.20% 0.20% 36.64% 23.03% NA
Indica II  465 53.10% 0.00% 28.17% 18.71% NA
Indica III  913 74.00% 0.40% 13.14% 12.38% NA
Indica Intermediate  786 58.80% 0.40% 25.19% 15.65% NA
Temperate Japonica  767 99.30% 0.00% 0.26% 0.39% NA
Tropical Japonica  504 99.80% 0.00% 0.00% 0.20% NA
Japonica Intermediate  241 98.80% 0.00% 1.24% 0.00% NA
VI/Aromatic  96 99.00% 0.00% 1.04% 0.00% NA
Intermediate  90 84.40% 0.00% 14.44% 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
vg0205477420 T -> A LOC_Os02g10420.1 missense_variant&splice_region_variant ; p.Asn8Ile; MODERATE nonsynonymous_codon Average:85.758; most accessible tissue: Minghui63 flower, score: 92.813 unknown unknown DELETERIOUS 0.00
vg0205477420 T -> DEL LOC_Os02g10420.1 N frameshift_variant Average:85.758; most accessible tissue: Minghui63 flower, score: 92.813 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)
vg0205477420 T A -0.01 -0.01 -0.01 0.0 -0.01 -0.01