Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0205347059:

Variant ID: vg0205347059 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 5347059
Reference Allele: GAAAlternative Allele: GAAA,GA,G
Primary Allele: GAASecondary Allele: GAAA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCCCACGGTTCTACAACAAATCAACCCCAAAAAAAGATCAGGAAACTCACGCGAATCTAATCATTTCAACCTGAAAGATCACATAGCCTAATACACAACC[GAA/GAAA,GA,G]
AAAAAAAATCAAACATAAACGCTTTCCCCTCGAGCCCAATAACCAATAACCAACCACATCAAATACCAAATCAAACAACGACCCCCCACATCAGATCCCC

Reverse complement sequence

GGGGATCTGATGTGGGGGGTCGTTGTTTGATTTGGTATTTGATGTGGTTGGTTATTGGTTATTGGGCTCGAGGGGAAAGCGTTTATGTTTGATTTTTTTT[TTC/TTTC,TC,C]
GGTTGTGTATTAGGCTATGTGATCTTTCAGGTTGAAATGATTAGATTCGCGTGAGTTTCCTGATCTTTTTTTGGGGTTGATTTGTTGTAGAACCGTGGGC

Allele Frequencies:

Populations Population SizeFrequency of GAA(primary allele) Frequency of GAAA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 37.80% 36.90% 1.25% 0.00% GA: 23.97%; G: 0.06%
All Indica  2759 8.20% 61.90% 1.81% 0.00% GA: 28.05%
All Japonica  1512 97.50% 0.70% 0.40% 0.00% GA: 1.39%
Aus  269 14.50% 0.00% 0.00% 0.00% GA: 84.39%; G: 1.12%
Indica I  595 10.60% 86.10% 2.02% 0.00% GA: 1.34%
Indica II  465 1.50% 50.50% 1.29% 0.00% GA: 46.67%
Indica III  913 9.20% 55.40% 0.88% 0.00% GA: 34.50%
Indica Intermediate  786 9.30% 57.90% 3.05% 0.00% GA: 29.77%
Temperate Japonica  767 98.80% 0.80% 0.13% 0.00% GA: 0.26%
Tropical Japonica  504 97.00% 0.20% 0.40% 0.00% GA: 2.38%
Japonica Intermediate  241 94.20% 1.70% 1.24% 0.00% GA: 2.90%
VI/Aromatic  96 11.50% 0.00% 0.00% 0.00% GA: 88.54%
Intermediate  90 38.90% 28.90% 3.33% 0.00% GA: 28.89%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0205347059 GAA -> G LOC_Os02g10210.1 upstream_gene_variant ; 1660.0bp to feature; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> G LOC_Os02g10220.1 upstream_gene_variant ; 4407.0bp to feature; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> G LOC_Os02g10190.1 downstream_gene_variant ; 2542.0bp to feature; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> G LOC_Os02g10200.1 intron_variant ; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> G LOC_Os02g10200.2 intron_variant ; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> GA LOC_Os02g10210.1 upstream_gene_variant ; 1659.0bp to feature; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> GA LOC_Os02g10220.1 upstream_gene_variant ; 4406.0bp to feature; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> GA LOC_Os02g10190.1 downstream_gene_variant ; 2543.0bp to feature; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> GA LOC_Os02g10200.1 intron_variant ; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> GA LOC_Os02g10200.2 intron_variant ; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> GAAA LOC_Os02g10210.1 upstream_gene_variant ; 1658.0bp to feature; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> GAAA LOC_Os02g10220.1 upstream_gene_variant ; 4405.0bp to feature; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> GAAA LOC_Os02g10190.1 downstream_gene_variant ; 2544.0bp to feature; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> GAAA LOC_Os02g10200.1 intron_variant ; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 N N N N
vg0205347059 GAA -> GAAA LOC_Os02g10200.2 intron_variant ; MODIFIER silent_mutation Average:88.029; most accessible tissue: Zhenshan97 flower, score: 94.175 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)
vg0205347059 GAA G 0.04 0.06 -0.01 0.04 -0.02 -0.04
vg0205347059 GAA GA 0.01 0.04 -0.03 0.03 -0.03 -0.04
vg0205347059 GAA GAAA 0.04 0.06 0.04 0.02 0.03 0.02