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Detailed information for vg0227215323:

Variant ID: vg0227215323 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 27215323
Reference Allele: GCGCCGCAlternative Allele: GCGCCGCCGCCGC,G
Primary Allele: GCGCCGCSecondary Allele: GCGCCGCCGCCGC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCGCCGGTCGCTCTTACGCTATCTCACTCTCGGAGACGGGTGGCCAGCGGCCGGGCCAGCCCAGTCCGACCCCGGCCGCGGCGACTGGCCGTAACCGTGC[GCGCCGC/GCGCCGCCGCCGC,G]
CGCCGCCGCCGCCCCGTGCCGCGGGACGCGGGGACGCCGAGCCGGGGGCGCCACCGCCGCTGCCGCCCCTGGACATGGACTCGATCTCCTCGAGGACGGC

Reverse complement sequence

GCCGTCCTCGAGGAGATCGAGTCCATGTCCAGGGGCGGCAGCGGCGGTGGCGCCCCCGGCTCGGCGTCCCCGCGTCCCGCGGCACGGGGCGGCGGCGGCG[GCGGCGC/GCGGCGGCGGCGC,C]
GCACGGTTACGGCCAGTCGCCGCGGCCGGGGTCGGACTGGGCTGGCCCGGCCGCTGGCCACCCGTCTCCGAGAGTGAGATAGCGTAAGAGCGACCGGCGC

Allele Frequencies:

Populations Population SizeFrequency of GCGCCGC(primary allele) Frequency of GCGCCGCCGCCGC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 58.50% 9.50% 29.79% 2.22% G: 0.04%
All Indica  2759 43.70% 16.00% 40.01% 0.25% G: 0.04%
All Japonica  1512 75.40% 0.10% 18.32% 6.15% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 29.10% 11.90% 58.66% 0.34% NA
Indica II  465 49.00% 8.60% 42.15% 0.22% NA
Indica III  913 48.20% 25.70% 26.07% 0.00% NA
Indica Intermediate  786 46.40% 12.10% 40.84% 0.51% G: 0.13%
Temperate Japonica  767 61.10% 0.10% 29.86% 8.87% NA
Tropical Japonica  504 91.10% 0.20% 4.56% 4.17% NA
Japonica Intermediate  241 88.00% 0.00% 10.37% 1.66% NA
VI/Aromatic  96 88.50% 0.00% 7.29% 4.17% NA
Intermediate  90 70.00% 5.60% 22.22% 1.11% G: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0227215323 GCGCCGC -> GCGCCGCCGCCGC LOC_Os02g44920.1 inframe_insertion ; p.Gly429_Gly430dup; MODERATE inframe_variant Average:94.279; most accessible tissue: Minghui63 flag leaf, score: 97.965 N N N N
vg0227215323 GCGCCGC -> G LOC_Os02g44920.1 disruptive_inframe_deletion ; p.Gly430_Gly431del; MODERATE inframe_variant Average:94.279; most accessible tissue: Minghui63 flag leaf, score: 97.965 N N N N
vg0227215323 GCGCCGC -> DEL LOC_Os02g44920.1 N frameshift_variant Average:94.279; most accessible tissue: Minghui63 flag leaf, score: 97.965 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)
vg0227215323 GCGCC* G 0.2 0.29 0.27 0.09 0.19 0.2
vg0227215323 GCGCC* GCGCC* 0.13 0.03 0.0 -0.12 -0.08 -0.12