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Detailed information for vg0124857381:

Variant ID: vg0124857381 (JBrowse)Variation Type: INDEL
Chromosome: chr01Position: 24857381
Reference Allele: AAlternative Allele: G,ACCG
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGGCGCGTTCACCAGCGCCGCCGACGACGACGAGTCCGGCACCACCACCGTGAACTCCCCCCTGCACACCGCAACCAGCACCGCCACGACGGCCACCACC[A/G,ACCG]
CCGTCGCCGCCGCCGTCGCGGAGAGCGCAGAGGCCACCATATCACCTTGCACGCTCGTGCGACGCGATGCGCTCGGAAGGGTCACGACCGTTGGGAATTT

Reverse complement sequence

AAATTCCCAACGGTCGTGACCCTTCCGAGCGCATCGCGTCGCACGAGCGTGCAAGGTGATATGGTGGCCTCTGCGCTCTCCGCGACGGCGGCGGCGACGG[T/C,CGGT]
GGTGGTGGCCGTCGTGGCGGTGCTGGTTGCGGTGTGCAGGGGGGAGTTCACGGTGGTGGTGCCGGACTCGTCGTCGTCGGCGGCGCTGGTGAACGCGCCG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 43.20% 31.00% 0.68% 0.47% ACCG: 24.63%
All Indica  2759 7.20% 51.00% 1.05% 0.80% ACCG: 39.94%
All Japonica  1512 95.50% 2.30% 0.00% 0.00% ACCG: 2.18%
Aus  269 94.10% 1.90% 0.37% 0.00% ACCG: 3.72%
Indica I  595 0.80% 34.50% 0.84% 0.67% ACCG: 63.19%
Indica II  465 5.60% 42.20% 1.51% 1.51% ACCG: 49.25%
Indica III  913 10.40% 60.60% 0.77% 0.55% ACCG: 27.71%
Indica Intermediate  786 9.20% 57.80% 1.27% 0.76% ACCG: 31.04%
Temperate Japonica  767 99.30% 0.10% 0.00% 0.00% ACCG: 0.52%
Tropical Japonica  504 89.70% 5.60% 0.00% 0.00% ACCG: 4.76%
Japonica Intermediate  241 95.40% 2.50% 0.00% 0.00% ACCG: 2.07%
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 58.90% 17.80% 2.22% 0.00% ACCG: 21.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0124857381 A -> G LOC_Os01g43440.1 missense_variant ; p.Val14Ala; MODERATE nonsynonymous_codon ; V14A Average:89.735; most accessible tissue: Minghui63 panicle, score: 96.207 unknown unknown DELETERIOUS 0.02
vg0124857381 A -> ACCG LOC_Os01g43440.1 inframe_insertion ; p.Thr13_Val14insAla; MODERATE inframe_variant Average:89.735; most accessible tissue: Minghui63 panicle, score: 96.207 N N N N
vg0124857381 A -> DEL LOC_Os01g43440.1 N frameshift_variant Average:89.735; most accessible tissue: Minghui63 panicle, score: 96.207 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)
vg0124857381 A ACCG -0.14 0.01 0.05 0.06 -0.02 -0.08
vg0124857381 A G 0.02 0.02 0.01 0.02 0.01 0.01