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Detailed information for vg0233443801:

Variant ID: vg0233443801 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 33443801
Reference Allele: TAlternative Allele: A,TGCA
Primary Allele: ASecondary Allele: T

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.92, T: 0.09, others allele: 0.00, population size: 86. )

Flanking Sequence (100 bp) in Reference Genome:


CACCGCGAGCGACGTGAGGTCCCGCTGCGGCAGCGGCAGCGTGAGATCCGGCCGGCGCCGCGACCTCCCCGGCGTCCCCGGCTGCTGCTGCTGCTGCTGC[T/A,TGCA]
GCAGCCCCGCCCGCAAGCTCGGCGGCCCGCCCGGTCGCATCGCGACGGCGGCGAGGCGCGGCGCGGCGGGTTGATTGGCTCGCGTCGGCGTGTGCGTTTT

Reverse complement sequence

AAAACGCACACGCCGACGCGAGCCAATCAACCCGCCGCGCCGCGCCTCGCCGCCGTCGCGATGCGACCGGGCGGGCCGCCGAGCTTGCGGGCGGGGCTGC[A/T,TGCA]
GCAGCAGCAGCAGCAGCAGCCGGGGACGCCGGGGAGGTCGCGGCGCCGGCCGGATCTCACGCTGCCGCTGCCGCAGCGGGACCTCACGTCGCTCGCGGTG

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 56.70% 38.70% 3.66% 0.87% TGCA: 0.02%
All Indica  2759 85.80% 6.80% 5.94% 1.41% TGCA: 0.04%
All Japonica  1512 0.70% 99.00% 0.20% 0.07% NA
Aus  269 97.80% 2.20% 0.00% 0.00% NA
Indica I  595 86.60% 0.30% 11.26% 1.85% NA
Indica II  465 79.60% 4.90% 11.61% 3.66% TGCA: 0.22%
Indica III  913 87.50% 11.50% 0.66% 0.33% NA
Indica Intermediate  786 87.00% 7.30% 4.71% 1.02% NA
Temperate Japonica  767 0.80% 98.80% 0.26% 0.13% NA
Tropical Japonica  504 0.00% 100.00% 0.00% 0.00% NA
Japonica Intermediate  241 2.10% 97.50% 0.41% 0.00% NA
VI/Aromatic  96 11.50% 86.50% 2.08% 0.00% NA
Intermediate  90 32.20% 62.20% 4.44% 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
vg0233443801 T -> A LOC_Os02g54600.1 missense_variant ; p.Gln14Leu; MODERATE nonsynonymous_codon ; Q14L Average:96.502; most accessible tissue: Minghui63 young leaf, score: 99.257 unknown unknown TOLERATED 0.31
vg0233443801 T -> TGCA LOC_Os02g54600.1 inframe_insertion ; p.Leu13dup; MODERATE inframe_variant Average:96.502; most accessible tissue: Minghui63 young leaf, score: 99.257 N N N N
vg0233443801 T -> DEL LOC_Os02g54600.1 N frameshift_variant Average:96.502; most accessible tissue: Minghui63 young leaf, score: 99.257 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)
vg0233443801 T A -0.01 -0.01 0.0 -0.01 -0.01 0.0
vg0233443801 T TGCA 0.0 0.03 0.06 0.0 0.0 -0.04