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Detailed information for vg0424742142:

Variant ID: vg0424742142 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 24742142
Reference Allele: TAlternative Allele: G
Primary Allele: TSecondary Allele: G

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.99, G: 0.02, others allele: 0.00, population size: 200. )

Flanking Sequence (100 bp) in Reference Genome:


TTGTGCCGCCCATGGACGAGGACGACTACTCGCCGCTGTCCCCGTGGACGATCCTGTCGACCACCAAGTCCGTCAAGTACATCGACGCGGCGCACTACGC[T/G]
GTGCCGGGCGGCGCCCGCGCGGTTGAGCTGGTGTCCGGCATGGAGACGGCGATGCTGCAGGAGGTGAGCACCGTGCCCGGGCGGTCGTACAGGCTGGAGT

Reverse complement sequence

ACTCCAGCCTGTACGACCGCCCGGGCACGGTGCTCACCTCCTGCAGCATCGCCGTCTCCATGCCGGACACCAGCTCAACCGCGCGGGCGCCGCCCGGCAC[A/C]
GCGTAGTGCGCCGCGTCGATGTACTTGACGGACTTGGTGGTCGACAGGATCGTCCACGGGGACAGCGGCGAGTAGTCGTCCTCGTCCATGGGCGGCACAA

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 55.50% 0.10% 11.32% 33.01% NA
All Indica  2759 26.20% 0.20% 18.19% 55.45% NA
All Japonica  1512 99.10% 0.00% 0.40% 0.46% NA
Aus  269 85.90% 0.40% 8.55% 5.20% NA
Indica I  595 27.60% 0.50% 28.07% 43.87% NA
Indica II  465 26.20% 0.40% 15.48% 57.85% NA
Indica III  913 19.30% 0.00% 14.57% 66.16% NA
Indica Intermediate  786 33.10% 0.00% 16.54% 50.38% NA
Temperate Japonica  767 99.30% 0.00% 0.13% 0.52% NA
Tropical Japonica  504 99.60% 0.00% 0.20% 0.20% NA
Japonica Intermediate  241 97.50% 0.00% 1.66% 0.83% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 85.60% 1.10% 4.44% 8.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0424742142 T -> DEL LOC_Os04g41740.1 N frameshift_variant Average:88.121; most accessible tissue: Zhenshan97 panicle, score: 99.146 N N N N
vg0424742142 T -> G LOC_Os04g41740.1 synonymous_variant ; p.Ala257Ala; LOW synonymous_codon Average:88.121; most accessible tissue: Zhenshan97 panicle, score: 99.146 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)
vg0424742142 T G 0.05 0.02 0.03 -0.02 0.01 0.0