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Detailed information for vg0209506482:

Variant ID: vg0209506482 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 9506482
Reference Allele: GAlternative Allele: GAACC
Primary Allele: GSecondary Allele: GAACC

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 124. )

Flanking Sequence (100 bp) in Reference Genome:


GTTGGGGATGGGGGCCCCTGGGGCTCCAGATGTTGGAGGTGGTAGTGTCGGAGGCCTTGGGAGAGGTGCCATCTGCATAGGCATAGAACCAGGTGGCATA[G/GAACC]
AGCCAGGCGGCATGGAACCAGGTGGGGCGCCTGTTTGTGGCATGGTTGGAACATTTGGAGCACCAGGATAACCTGAGGAGCGTACAGAGAAGTCACATAA

Reverse complement sequence

TTATGTGACTTCTCTGTACGCTCCTCAGGTTATCCTGGTGCTCCAAATGTTCCAACCATGCCACAAACAGGCGCCCCACCTGGTTCCATGCCGCCTGGCT[C/GGTTC]
TATGCCACCTGGTTCTATGCCTATGCAGATGGCACCTCTCCCAAGGCCTCCGACACTACCACCTCCAACATCTGGAGCCCCAGGGGCCCCCATCCCCAAC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of GAACC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 85.00% 15.00% 0.06% 0.00% NA
All Indica  2759 75.20% 24.70% 0.11% 0.00% NA
All Japonica  1512 99.30% 0.70% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 66.60% 33.40% 0.00% 0.00% NA
Indica II  465 64.30% 35.50% 0.22% 0.00% NA
Indica III  913 91.30% 8.70% 0.00% 0.00% NA
Indica Intermediate  786 69.30% 30.40% 0.25% 0.00% NA
Temperate Japonica  767 99.00% 1.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 83.30% 16.70% 0.00% 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
vg0209506482 G -> GAACC LOC_Os02g16640.1 frameshift_variant ; p.Ser146fs; HIGH frameshift_variant Average:91.226; most accessible tissue: Minghui63 panicle, score: 95.701 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)
vg0209506482 G GAACC 0.02 -0.03 -0.01 0.11 0.06 0.06