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Detailed information for vg1227474732:

Variant ID: vg1227474732 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 27474732
Reference Allele: GAlternative Allele: T,A
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.63, T: 0.38, others allele: 0.00, population size: 90. )

Flanking Sequence (100 bp) in Reference Genome:


CCTCTCCCGCAACGCCACCTTCTCCGCCGCCGTCTACAACGCCGGCGTCGACCCTTCCTCCGACGACAACCAGTCCCGCTTCTTCTTCTCCGTCCTCCAC[G/T,A]
CCGCCTCCCGCACCCCCGTCTGGACAGCCACCGCCGGCACCACCATCCTCCAGTCCATCGTCCTCTCCCTCACCGCCCAGGGCCTCGCCCTCTCCGACCC

Reverse complement sequence

GGGTCGGAGAGGGCGAGGCCCTGGGCGGTGAGGGAGAGGACGATGGACTGGAGGATGGTGGTGCCGGCGGTGGCTGTCCAGACGGGGGTGCGGGAGGCGG[C/A,T]
GTGGAGGACGGAGAAGAAGAAGCGGGACTGGTTGTCGTCGGAGGAAGGGTCGACGCCGGCGTTGTAGACGGCGGCGGAGAAGGTGGCGTTGCGGGAGAGG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 81.30% 18.60% 0.15% 0.00% NA
All Indica  2759 68.50% 31.40% 0.18% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 31.80% 68.20% 0.00% 0.00% NA
Indica II  465 85.60% 14.40% 0.00% 0.00% NA
Indica III  913 75.00% 24.80% 0.22% 0.00% NA
Indica Intermediate  786 78.50% 21.10% 0.38% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 84.40% 13.30% 2.22% 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
vg1227474732 G -> A LOC_Os12g44320.1 missense_variant ; p.Ala89Thr; MODERATE N Average:94.495; most accessible tissue: Minghui63 root, score: 98.18 N N N N
vg1227474732 G -> A LOC_Os12g44310.1 downstream_gene_variant ; 2696.0bp to feature; MODIFIER N Average:94.495; most accessible tissue: Minghui63 root, score: 98.18 N N N N
vg1227474732 G -> A LOC_Os12g44310.2 downstream_gene_variant ; 2696.0bp to feature; MODIFIER N Average:94.495; most accessible tissue: Minghui63 root, score: 98.18 N N N N
vg1227474732 G -> T LOC_Os12g44320.1 missense_variant ; p.Ala89Ser; MODERATE nonsynonymous_codon ; A89S Average:94.495; most accessible tissue: Minghui63 root, score: 98.18 benign 0.155 TOLERATED 0.17

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)
vg1227474732 G A 0.0 0.01 0.0 0.0 0.0 0.0
vg1227474732 G T -0.01 0.0 -0.01 -0.01 -0.01 -0.01