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Detailed information for vg1223000286:

Variant ID: vg1223000286 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23000286
Reference Allele: AAlternative Allele: T
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.86, T: 0.15, others allele: 0.00, population size: 86. )

Flanking Sequence (100 bp) in Reference Genome:


TATATATATATGTACGTAGTAGTATACTATATATAGGATCATATCGATCGGTCGCCGGCCGGCGGCGTGCGTCTAGCTGCTGGAGCGGAGGCCGGCGGCG[A/T]
CGGCGATGGCGATGCAGTTGCTGGCGAGCTTGGCGAGCTCGGCGTCCTGCTTGGACATGAGCGGCGGGATGTCGCCGTCGCGTTCCTCGAAGCCCTGGTC

Reverse complement sequence

GACCAGGGCTTCGAGGAACGCGACGGCGACATCCCGCCGCTCATGTCCAAGCAGGACGCCGAGCTCGCCAAGCTCGCCAGCAACTGCATCGCCATCGCCG[T/A]
CGCCGCCGGCCTCCGCTCCAGCAGCTAGACGCACGCCGCCGGCCGGCGACCGATCGATATGATCCTATATATAGTATACTACTACGTACATATATATATA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 55.60% 16.70% 11.68% 16.04% NA
All Indica  2759 56.90% 27.90% 8.59% 6.60% NA
All Japonica  1512 48.90% 0.50% 17.46% 33.20% NA
Aus  269 80.70% 0.70% 8.92% 9.67% NA
Indica I  595 46.70% 13.40% 14.62% 25.21% NA
Indica II  465 83.40% 8.00% 6.24% 2.37% NA
Indica III  913 44.70% 51.50% 3.29% 0.55% NA
Indica Intermediate  786 63.20% 23.20% 11.58% 2.04% NA
Temperate Japonica  767 38.50% 0.00% 17.21% 44.33% NA
Tropical Japonica  504 63.30% 1.40% 16.07% 19.25% NA
Japonica Intermediate  241 51.90% 0.00% 21.16% 26.97% NA
VI/Aromatic  96 49.00% 1.00% 13.54% 36.46% NA
Intermediate  90 61.10% 8.90% 15.56% 14.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223000286 A -> DEL LOC_Os12g37480.1 N frameshift_variant Average:79.252; most accessible tissue: Zhenshan97 flower, score: 90.197 N N N N
vg1223000286 A -> T LOC_Os12g37480.1 missense_variant ; p.Val223Asp; MODERATE nonsynonymous_codon ; V223D Average:79.252; most accessible tissue: Zhenshan97 flower, score: 90.197 unknown unknown TOLERATED 0.58

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)
vg1223000286 A T -0.1 -0.08 -0.02 0.02 -0.02 -0.02