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Detailed information for vg0227215342:

Variant ID: vg0227215342 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 27215342
Reference Allele: CCCGTAlternative Allele: C,CGCCGT
Primary Allele: CCCGTSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TATCTCACTCTCGGAGACGGGTGGCCAGCGGCCGGGCCAGCCCAGTCCGACCCCGGCCGCGGCGACTGGCCGTAACCGTGCGCGCCGCCGCCGCCGCCGC[CCCGT/C,CGCCGT]
GCCGCGGGACGCGGGGACGCCGAGCCGGGGGCGCCACCGCCGCTGCCGCCCCTGGACATGGACTCGATCTCCTCGAGGACGGCGACGACCTCCCTCATGG

Reverse complement sequence

CCATGAGGGAGGTCGTCGCCGTCCTCGAGGAGATCGAGTCCATGTCCAGGGGCGGCAGCGGCGGTGGCGCCCCCGGCTCGGCGTCCCCGCGTCCCGCGGC[ACGGG/G,ACGGCG]
GCGGCGGCGGCGGCGGCGCGCACGGTTACGGCCAGTCGCCGCGGCCGGGGTCGGACTGGGCTGGCCCGGCCGCTGGCCACCCGTCTCCGAGAGTGAGATA

Allele Frequencies:

Populations Population SizeFrequency of CCCGT(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 91.70% 0.00% 6.62% 1.61% NA
All Indica  2759 99.50% 0.10% 0.33% 0.14% NA
All Japonica  1512 77.10% 0.00% 18.72% 4.23% NA
Aus  269 99.60% 0.00% 0.37% 0.00% NA
Indica I  595 99.50% 0.00% 0.34% 0.17% NA
Indica II  465 99.80% 0.00% 0.00% 0.22% NA
Indica III  913 99.80% 0.20% 0.00% 0.00% NA
Indica Intermediate  786 98.90% 0.00% 0.89% 0.25% NA
Temperate Japonica  767 64.00% 0.00% 30.25% 5.74% NA
Tropical Japonica  504 90.90% 0.00% 6.15% 2.98% NA
Japonica Intermediate  241 89.60% 0.00% 8.30% 2.07% NA
VI/Aromatic  96 81.20% 0.00% 13.54% 5.21% NA
Intermediate  90 88.90% 0.00% 7.78% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0227215342 CCCGT -> DEL LOC_Os02g44920.1 N frameshift_variant Average:91.279; most accessible tissue: Minghui63 flag leaf, score: 98.029 N N N N
vg0227215342 CCCGT -> CGCCGT LOC_Os02g44920.1 frameshift_variant ; p.Gly426fs; HIGH N Average:91.279; most accessible tissue: Minghui63 flag leaf, score: 98.029 N N N N
vg0227215342 CCCGT -> CGCCGT LOC_Os02g44910.1 upstream_gene_variant ; 2696.0bp to feature; MODIFIER N Average:91.279; most accessible tissue: Minghui63 flag leaf, score: 98.029 N N N N
vg0227215342 CCCGT -> C LOC_Os02g44920.1 frameshift_variant ; p.Arg425fs; HIGH frameshift_variant Average:91.279; most accessible tissue: Minghui63 flag leaf, score: 98.029 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)
vg0227215342 CCCGT C -0.04 -0.07 -0.04 0.04 -0.02 0.05
vg0227215342 CCCGT CGCCG* -0.1 0.0 0.08 0.1 0.06 0.15