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Detailed information for vg0312510640:

Variant ID: vg0312510640 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 12510640
Reference Allele: GAlternative Allele: GGGA
Primary Allele: GGGASecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 130. )

Flanking Sequence (100 bp) in Reference Genome:


GCGGACGCGTCGGAGGGTCGGGCCGTTGACGCGGGGCTCGCCCGCTTGCTCTTCTTCTTCCTCCTCCTCCGCAGCTTCAGCTTGTGCAACCATGACCAGC[G/GGGA]
GGAGGAGGAGGAGGAGGCTGGCATCGCGTGGCGTGCGTGGGCTGGGGGCGCGGGAGACAAGAGACACACCCACCACGCTCTGGTGCGCGGCAGAGACACA

Reverse complement sequence

TGTGTCTCTGCCGCGCACCAGAGCGTGGTGGGTGTGTCTCTTGTCTCCCGCGCCCCCAGCCCACGCACGCCACGCGATGCCAGCCTCCTCCTCCTCCTCC[C/TCCC]
GCTGGTCATGGTTGCACAAGCTGAAGCTGCGGAGGAGGAGGAAGAAGAAGAGCAAGCGGGCGAGCCCCGCGTCAACGGCCCGACCCTCCGACGCGTCCGC

Allele Frequencies:

Populations Population SizeFrequency of GGGA(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 60.70% 38.10% 1.16% 0.00% NA
All Indica  2759 93.20% 5.00% 1.81% 0.00% NA
All Japonica  1512 1.90% 98.10% 0.07% 0.00% NA
Aus  269 82.20% 17.50% 0.37% 0.00% NA
Indica I  595 92.30% 3.50% 4.20% 0.00% NA
Indica II  465 95.70% 3.90% 0.43% 0.00% NA
Indica III  913 94.00% 5.90% 0.11% 0.00% NA
Indica Intermediate  786 91.60% 5.60% 2.80% 0.00% NA
Temperate Japonica  767 0.70% 99.20% 0.13% 0.00% NA
Tropical Japonica  504 3.20% 96.80% 0.00% 0.00% NA
Japonica Intermediate  241 2.90% 97.10% 0.00% 0.00% NA
VI/Aromatic  96 10.40% 89.60% 0.00% 0.00% NA
Intermediate  90 44.40% 52.20% 3.33% 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
vg0312510640 G -> GGGA LOC_Os03g21870.1 inframe_insertion ; p.Ser8dup; MODERATE inframe_variant Average:89.701; most accessible tissue: Zhenshan97 flower, score: 95.531 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)
vg0312510640 G GGGA -0.3 -0.24 -0.26 -0.15 -0.21 -0.28