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Detailed information for vg0234310055:

Variant ID: vg0234310055 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 34310055
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.72, A: 0.28, others allele: 0.00, population size: 236. )

Flanking Sequence (100 bp) in Reference Genome:


GGCCGCACGTCCACCAGCAGGTGCGGCCTGCCGCTGTCGAGCACCTTCTTGTAGTCTCTGCAGCTCACCCGGGCGTTCTCCGGGAGAAGATTCAGGCTCC[G/A]
CGTCGTCGACTGCAATCATCATCAGTTCAAACAGAGAGTGATTAGGAGTGATGCCAGGGAAAATACACAGTGCAATTGTGCAAACTTCGTGTGTAGTGCA

Reverse complement sequence

TGCACTACACACGAAGTTTGCACAATTGCACTGTGTATTTTCCCTGGCATCACTCCTAATCACTCTCTGTTTGAACTGATGATGATTGCAGTCGACGACG[C/T]
GGAGCCTGAATCTTCTCCCGGAGAACGCCCGGGTGAGCTGCAGAGACTACAAGAAGGTGCTCGACAGCGGCAGGCCGCACCTGCTGGTGGACGTGCGGCC

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 82.00% 18.00% 0.08% 0.00% NA
All Indica  2759 73.60% 26.20% 0.14% 0.00% NA
All Japonica  1512 97.00% 3.00% 0.00% 0.00% NA
Aus  269 76.20% 23.80% 0.00% 0.00% NA
Indica I  595 56.60% 42.90% 0.50% 0.00% NA
Indica II  465 88.20% 11.80% 0.00% 0.00% NA
Indica III  913 80.60% 19.40% 0.00% 0.00% NA
Indica Intermediate  786 69.70% 30.20% 0.13% 0.00% NA
Temperate Japonica  767 99.70% 0.30% 0.00% 0.00% NA
Tropical Japonica  504 91.70% 8.30% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 92.70% 7.30% 0.00% 0.00% NA
Intermediate  90 90.00% 10.00% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0234310055 G -> A LOC_Os02g56050.1 missense_variant ; p.Arg50Trp; MODERATE nonsynonymous_codon ; R50W Average:79.927; most accessible tissue: Minghui63 flag leaf, score: 88.798 benign 0.061 DELETERIOUS 0.03

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)
vg0234310055 G A -0.02 -0.01 -0.02 -0.02 -0.02 -0.02