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Detailed information for vg0205477778:

Variant ID: vg0205477778 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 5477778
Reference Allele: TAAlternative Allele: T,TAA
Primary Allele: TASecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GAGATGGACTTTTGAAACAGATACTGCTCATTCCGTTTTATATTATAAAGCGTTTTGATTTTTTTTAAAATTTAAACTTTTTTAAGTTTGATTAAATTCG[TA/T,TAA]
AAAAAAATATAGTAACAAACCTAAAGAATTTTGATTTAAAAAATCAAAACAAATTGTAATATGAGATGGATGGAGAGCATATGACATTTCTTCGCCGATC

Reverse complement sequence

GATCGGCGAAGAAATGTCATATGCTCTCCATCCATCTCATATTACAATTTGTTTTGATTTTTTAAATCAAAATTCTTTAGGTTTGTTACTATATTTTTTT[TA/A,TTA]
CGAATTTAATCAAACTTAAAAAAGTTTAAATTTTAAAAAAAATCAAAACGCTTTATAATATAAAACGGAATGAGCAGTATCTGTTTCAAAAGTCCATCTC

Allele Frequencies:

Populations Population SizeFrequency of TA(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 57.70% 39.20% 0.47% 0.00% TAA: 2.64%
All Indica  2759 29.50% 65.70% 0.72% 0.00% TAA: 4.10%
All Japonica  1512 98.90% 1.00% 0.00% 0.00% TAA: 0.07%
Aus  269 95.50% 0.70% 0.37% 0.00% TAA: 3.35%
Indica I  595 2.00% 90.90% 2.02% 0.00% TAA: 5.04%
Indica II  465 47.30% 50.80% 0.22% 0.00% TAA: 1.72%
Indica III  913 35.20% 59.10% 0.11% 0.00% TAA: 5.59%
Indica Intermediate  786 33.20% 63.00% 0.76% 0.00% TAA: 3.05%
Temperate Japonica  767 98.60% 1.40% 0.00% 0.00% NA
Tropical Japonica  504 99.60% 0.20% 0.00% 0.00% TAA: 0.20%
Japonica Intermediate  241 98.80% 1.20% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 0.00% 1.04% 0.00% NA
Intermediate  90 70.00% 27.80% 0.00% 0.00% TAA: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0205477778 TA -> TAA LOC_Os02g10400.1 upstream_gene_variant ; 2646.0bp to feature; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 N N N N
vg0205477778 TA -> TAA LOC_Os02g10410.1 upstream_gene_variant ; 1822.0bp to feature; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 N N N N
vg0205477778 TA -> TAA LOC_Os02g10440.1 upstream_gene_variant ; 4948.0bp to feature; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 N N N N
vg0205477778 TA -> TAA LOC_Os02g10430.1 downstream_gene_variant ; 918.0bp to feature; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 N N N N
vg0205477778 TA -> TAA LOC_Os02g10430.2 downstream_gene_variant ; 918.0bp to feature; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 N N N N
vg0205477778 TA -> TAA LOC_Os02g10420.1 intron_variant ; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 N N N N
vg0205477778 TA -> T LOC_Os02g10400.1 upstream_gene_variant ; 2645.0bp to feature; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 N N N N
vg0205477778 TA -> T LOC_Os02g10410.1 upstream_gene_variant ; 1821.0bp to feature; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 N N N N
vg0205477778 TA -> T LOC_Os02g10440.1 upstream_gene_variant ; 4949.0bp to feature; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 N N N N
vg0205477778 TA -> T LOC_Os02g10430.1 downstream_gene_variant ; 919.0bp to feature; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 N N N N
vg0205477778 TA -> T LOC_Os02g10430.2 downstream_gene_variant ; 919.0bp to feature; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 N N N N
vg0205477778 TA -> T LOC_Os02g10420.1 intron_variant ; MODIFIER silent_mutation Average:57.552; most accessible tissue: Minghui63 flower, score: 88.359 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)
vg0205477778 TA T -0.09 -0.05 -0.03 -0.02 -0.03 -0.04
vg0205477778 TA TAA -0.05 -0.02 -0.02 -0.02 0.02 0.06