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Detailed information for vg0426639685:

Variant ID: vg0426639685 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 26639685
Reference Allele: GAAlternative Allele: GCA,GCAA,G,GAA
Primary Allele: GASecondary Allele: GCA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATGGAAACCTCTGCTTTGACGAAACCTAGAAAAGATCAACGTGTGGTACTACTATGACAATAAAAGATCCTTTATTAGACTGACTGTGCAATAGTAATTC[GA/GCA,GCAA,G,GAA]
AAAAAAAAAGATTAAGAAGGCGATTATAAGTTATACTAGATAAGAAATACTTTTATCTAACTTTTTTTGTTTGAAACTAGGACTTTTATCTAACATGGTG

Reverse complement sequence

CACCATGTTAGATAAAAGTCCTAGTTTCAAACAAAAAAAGTTAGATAAAAGTATTTCTTATCTAGTATAACTTATAATCGCCTTCTTAATCTTTTTTTTT[TC/TGC,TTGC,C,TTC]
GAATTACTATTGCACAGTCAGTCTAATAAAGGATCTTTTATTGTCATAGTAGTACCACACGTTGATCTTTTCTAGGTTTCGTCAAAGCAGAGGTTTCCAT

Allele Frequencies:

Populations Population SizeFrequency of GA(primary allele) Frequency of GCA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 94.80% 4.50% 0.21% 0.00% GAA: 0.21%; G: 0.21%
All Indica  2759 96.60% 2.90% 0.11% 0.00% G: 0.36%; GAA: 0.11%
All Japonica  1512 99.60% 0.10% 0.13% 0.00% GAA: 0.13%
Aus  269 54.30% 45.40% 0.37% 0.00% NA
Indica I  595 99.80% 0.00% 0.00% 0.00% G: 0.17%
Indica II  465 99.10% 0.60% 0.00% 0.00% G: 0.22%
Indica III  913 94.50% 5.10% 0.00% 0.00% G: 0.33%
Indica Intermediate  786 94.90% 3.70% 0.38% 0.00% G: 0.64%; GAA: 0.38%
Temperate Japonica  767 99.70% 0.00% 0.13% 0.00% GAA: 0.13%
Tropical Japonica  504 99.20% 0.40% 0.20% 0.00% GAA: 0.20%
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 85.40% 5.20% 4.17% 0.00% GAA: 5.21%
Intermediate  90 93.30% 6.70% 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
vg0426639685 GA -> GCA LOC_Os04g45040.1 upstream_gene_variant ; 4336.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GCA LOC_Os04g45040.3 upstream_gene_variant ; 4336.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GCA LOC_Os04g45040.2 upstream_gene_variant ; 4389.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GCA LOC_Os04g45030.1 downstream_gene_variant ; 2485.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GCA LOC_Os04g45020.1 intron_variant ; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> G LOC_Os04g45040.1 upstream_gene_variant ; 4336.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> G LOC_Os04g45040.3 upstream_gene_variant ; 4336.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> G LOC_Os04g45040.2 upstream_gene_variant ; 4389.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> G LOC_Os04g45030.1 downstream_gene_variant ; 2485.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> G LOC_Os04g45020.1 intron_variant ; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GCAA LOC_Os04g45040.1 upstream_gene_variant ; 4336.0bp to feature; MODIFIER N Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GCAA LOC_Os04g45040.3 upstream_gene_variant ; 4336.0bp to feature; MODIFIER N Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GCAA LOC_Os04g45040.2 upstream_gene_variant ; 4389.0bp to feature; MODIFIER N Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GCAA LOC_Os04g45030.1 downstream_gene_variant ; 2485.0bp to feature; MODIFIER N Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GCAA LOC_Os04g45020.1 intron_variant ; MODIFIER N Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GAA LOC_Os04g45040.1 upstream_gene_variant ; 4335.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GAA LOC_Os04g45040.3 upstream_gene_variant ; 4335.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GAA LOC_Os04g45040.2 upstream_gene_variant ; 4388.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GAA LOC_Os04g45030.1 downstream_gene_variant ; 2484.0bp to feature; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 N N N N
vg0426639685 GA -> GAA LOC_Os04g45020.1 intron_variant ; MODIFIER silent_mutation Average:76.878; most accessible tissue: Zhenshan97 flower, score: 91.965 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)
vg0426639685 GA G 0.04 0.18 0.21 0.0 0.07 0.06
vg0426639685 GA GAA 0.23 0.25 0.2 0.06 0.12 0.07
vg0426639685 GA GCA 0.21 0.25 0.2 0.06 0.11 0.06
vg0426639685 GA GCAA 0.22 0.49 0.49 0.05 0.31 0.43