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Detailed information for vg0223610511:

Variant ID: vg0223610511 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 23610511
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.97, T: 0.03, others allele: 0.00, population size: 97. )

Flanking Sequence (100 bp) in Reference Genome:


CCGCCGGCGACCTCCGCGCACTTGTGCCTCGCCGCGGCGCGGGAGATGGCCTTGAGCGCCATGGGATCCTCGTCCGCCGTCGCCGACACCGCCGCGGCGG[C/T]
GCCGCCGGCGGGCACGACGTGGAAGACGACGCCCCTGGCGCCGCGGCCGAGCACGGAGAGGGCCTTGAGGTCGGCGAGGCTCAGCTGCGGCGGCAGCGGC

Reverse complement sequence

GCCGCTGCCGCCGCAGCTGAGCCTCGCCGACCTCAAGGCCCTCTCCGTGCTCGGCCGCGGCGCCAGGGGCGTCGTCTTCCACGTCGTGCCCGCCGGCGGC[G/A]
CCGCCGCGGCGGTGTCGGCGACGGCGGACGAGGATCCCATGGCGCTCAAGGCCATCTCCCGCGCCGCGGCGAGGCACAAGTGCGCGGAGGTCGCCGGCGG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 88.60% 8.80% 1.88% 0.72% NA
All Indica  2759 89.80% 9.50% 0.43% 0.29% NA
All Japonica  1512 92.60% 0.90% 4.96% 1.59% NA
Aus  269 63.20% 36.40% 0.37% 0.00% NA
Indica I  595 99.50% 0.00% 0.50% 0.00% NA
Indica II  465 73.10% 24.70% 0.65% 1.51% NA
Indica III  913 93.30% 6.50% 0.22% 0.00% NA
Indica Intermediate  786 88.30% 11.10% 0.51% 0.13% NA
Temperate Japonica  767 87.90% 0.00% 9.39% 2.74% NA
Tropical Japonica  504 97.40% 2.00% 0.20% 0.40% NA
Japonica Intermediate  241 97.50% 1.20% 0.83% 0.41% NA
VI/Aromatic  96 58.30% 41.70% 0.00% 0.00% NA
Intermediate  90 90.00% 6.70% 1.11% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0223610511 C -> T LOC_Os02g39090.1 missense_variant ; p.Ala45Thr; MODERATE nonsynonymous_codon ; A45T Average:88.046; most accessible tissue: Minghui63 panicle, score: 95.282 unknown unknown TOLERATED 0.32
vg0223610511 C -> DEL LOC_Os02g39090.1 N frameshift_variant Average:88.046; most accessible tissue: Minghui63 panicle, score: 95.282 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)
vg0223610511 C T -0.01 -0.01 -0.02 -0.01 0.0 0.0