Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923).

Detailed information for vg0825217312:

Variant ID: vg0825217312 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 25217312
Reference Allele: TAlternative Allele: G
Primary Allele: TSecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.95, T: 0.05, others allele: 0.00, population size: 82. )

Flanking Sequence (100 bp) in Reference Genome:


GTCCAACTTCGGCCACCACGGGGCGTCCTTCTTGTCGCCGTGCCCCTTGGTGCGCACCTCGGTCCAGAACGCCTGGAGCTCCTCGTCGCCGGCGACGCTG[T/G]
CGGCGTCGGGGTAGAACCGCGCGACGTACGCCTGGACCCAGGTCTTGATGGCGTCCCAGATGAGGAGGCCGTCGTTGGCGAACGGGTAGTCCTCGATGGC

Reverse complement sequence

GCCATCGAGGACTACCCGTTCGCCAACGACGGCCTCCTCATCTGGGACGCCATCAAGACCTGGGTCCAGGCGTACGTCGCGCGGTTCTACCCCGACGCCG[A/C]
CAGCGTCGCCGGCGACGAGGAGCTCCAGGCGTTCTGGACCGAGGTGCGCACCAAGGGGCACGGCGACAAGAAGGACGCCCCGTGGTGGCCGAAGTTGGAC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 68.60% 31.10% 0.04% 0.25% NA
All Indica  2759 56.60% 43.00% 0.00% 0.40% NA
All Japonica  1512 99.50% 0.50% 0.07% 0.00% NA
Aus  269 6.70% 93.30% 0.00% 0.00% NA
Indica I  595 65.40% 34.10% 0.00% 0.50% NA
Indica II  465 75.70% 24.10% 0.00% 0.22% NA
Indica III  913 39.20% 60.70% 0.00% 0.11% NA
Indica Intermediate  786 58.80% 40.50% 0.00% 0.76% NA
Temperate Japonica  767 99.50% 0.50% 0.00% 0.00% NA
Tropical Japonica  504 99.60% 0.40% 0.00% 0.00% NA
Japonica Intermediate  241 99.20% 0.40% 0.41% 0.00% NA
VI/Aromatic  96 93.80% 6.20% 0.00% 0.00% NA
Intermediate  90 76.70% 21.10% 1.11% 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
vg0825217312 T -> G LOC_Os08g39840.1 missense_variant ; p.Asp720Ala; MODERATE nonsynonymous_codon ; D720A Average:64.91; most accessible tissue: Minghui63 young leaf, score: 95.091 unknown unknown TOLERATED 0.37
vg0825217312 T -> DEL LOC_Os08g39840.1 N frameshift_variant Average:64.91; most accessible tissue: Minghui63 young leaf, score: 95.091 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)
vg0825217312 T G 0.0 0.01 -0.01 0.0 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0825217312 NA 6.56E-07 mr1545 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0825217312 NA 1.74E-06 mr1574 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0825217312 9.41E-06 NA mr1699 All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0825217312 NA 2.87E-07 mr1699 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0825217312 1.06E-21 3.29E-45 mr1874 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0825217312 4.41E-20 3.20E-26 mr1874 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0825217312 NA 6.98E-18 mr1587_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0825217312 1.35E-06 NA mr1699_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0825217312 3.00E-06 5.52E-09 mr1699_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0825217312 1.05E-19 7.82E-61 mr1874_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0825217312 2.50E-17 1.71E-30 mr1874_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251