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Detailed information for vg0821466997:

Variant ID: vg0821466997 (JBrowse)Variation Type: INDEL
Chromosome: chr08Position: 21466997
Reference Allele: TAlternative Allele: TGAG,TGAGGAG
Primary Allele: TGAGSecondary Allele: T

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 1.00, others allele: 0.00, population size: 109. )

Flanking Sequence (100 bp) in Reference Genome:


CAGCGCAAGCTGCGCGGCGGCCGCACCTGCCACCGGAAGCACGTCGAGGACGGGTAGATCCATCTCTTGGTAGTAGATTAGTAGTAGTTAGGTAGATTCT[T/TGAG,TGAGGAG]
GAGGAGGAGGAGGAGGATGATGGCGGCGGCGGCGGAGGAGGGGGAGGGGAAGAAGGGCGGCGGCACGGTGCTGCAGGGGAGGTACGAGATGGGGCGGGTG

Reverse complement sequence

CACCCGCCCCATCTCGTACCTCCCCTGCAGCACCGTGCCGCCGCCCTTCTTCCCCTCCCCCTCCTCCGCCGCCGCCGCCATCATCCTCCTCCTCCTCCTC[A/CTCA,CTCCTCA]
AGAATCTACCTAACTACTACTAATCTACTACCAAGAGATGGATCTACCCGTCCTCGACGTGCTTCCGGTGGCAGGTGCGGCCGCCGCGCAGCTTGCGCTG

Allele Frequencies:

Populations Population SizeFrequency of TGAG(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 75.20% 24.20% 0.57% 0.00% TGAGGAG: 0.06%
All Indica  2759 96.00% 3.20% 0.72% 0.00% TGAGGAG: 0.11%
All Japonica  1512 34.60% 65.20% 0.20% 0.00% NA
Aus  269 92.90% 5.90% 1.12% 0.00% NA
Indica I  595 95.80% 2.50% 1.68% 0.00% NA
Indica II  465 95.50% 3.70% 0.86% 0.00% NA
Indica III  913 98.00% 1.50% 0.11% 0.00% TGAGGAG: 0.33%
Indica Intermediate  786 94.10% 5.20% 0.64% 0.00% NA
Temperate Japonica  767 3.90% 96.10% 0.00% 0.00% NA
Tropical Japonica  504 76.60% 23.40% 0.00% 0.00% NA
Japonica Intermediate  241 44.40% 54.40% 1.24% 0.00% NA
VI/Aromatic  96 77.10% 22.90% 0.00% 0.00% NA
Intermediate  90 64.40% 34.40% 1.11% 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
vg0821466997 T -> TGAGGAG N N silent_mutation Average:95.862; most accessible tissue: Minghui63 flag leaf, score: 98.748 N N N N
vg0821466997 T -> TGAG LOC_Os08g34240.1 start_lost&disruptive_inframe_insertion ; HIGH silent_mutation Average:95.862; most accessible tissue: Minghui63 flag leaf, score: 98.748 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)
vg0821466997 T TGAG 0.0 0.0 -0.08 0.02 -0.01 0.01
vg0821466997 T TGAGG* -0.04 -0.02 -0.11 0.02 0.0 0.06