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Detailed information for vg1126921433:

Variant ID: vg1126921433 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 26921433
Reference Allele: CAlternative Allele: CGG
Primary Allele: CSecondary Allele: CGG

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.01, others allele: 0.00, population size: 113. )

Flanking Sequence (100 bp) in Reference Genome:


TTCTTCCCTTCTACTAGCTAGCAAGTAGCATCCACGCAGTTCTTCCGAGTTCTTTGAGATTGCCACGGCGAGATGTGGAGCGGGATGGGGCAGGCGGCGA[C/CGG]
TGTGGCGCAGCTGGTCGGCGCAGACGTCGGCAGGCTCATCTCCATGATCATGCAGGCGGCGTTGCCGGCTCAGCGGAACAAGAAGGAGTGCGAGCAGCTC

Reverse complement sequence

GAGCTGCTCGCACTCCTTCTTGTTCCGCTGAGCCGGCAACGCCGCCTGCATGATCATGGAGATGAGCCTGCCGACGTCTGCGCCGACCAGCTGCGCCACA[G/CCG]
TCGCCGCCTGCCCCATCCCGCTCCACATCTCGCCGTGGCAATCTCAAAGAACTCGGAAGAACTGCGTGGATGCTACTTGCTAGCTAGTAGAAGGGAAGAA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CGG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 78.70% 6.80% 0.34% 14.18% NA
All Indica  2759 69.90% 10.30% 0.43% 19.39% NA
All Japonica  1512 91.70% 1.30% 0.26% 6.75% NA
Aus  269 85.50% 5.90% 0.00% 8.55% NA
Indica I  595 64.00% 2.40% 1.01% 32.61% NA
Indica II  465 90.10% 6.70% 0.00% 3.23% NA
Indica III  913 59.50% 16.00% 0.22% 24.32% NA
Indica Intermediate  786 74.60% 11.70% 0.51% 13.23% NA
Temperate Japonica  767 90.10% 2.30% 0.39% 7.17% NA
Tropical Japonica  504 94.60% 0.20% 0.00% 5.16% NA
Japonica Intermediate  241 90.90% 0.00% 0.41% 8.71% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 86.70% 3.30% 0.00% 10.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1126921433 C -> DEL LOC_Os11g44510.1 N frameshift_variant Average:69.136; most accessible tissue: Minghui63 root, score: 93.227 N N N N
vg1126921433 C -> CGG LOC_Os11g44510.1 frameshift_variant ; p.Ala8fs; HIGH frameshift_variant Average:69.136; most accessible tissue: Minghui63 root, score: 93.227 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)
vg1126921433 C CGG -0.37 -0.09 -0.1 -0.09 -0.13 -0.06