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Detailed information for vg0332987681:

Variant ID: vg0332987681 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 32987681
Reference Allele: AAlternative Allele: AGAG
Primary Allele: AGAGSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGACGCGCCACCTGGTTTTGTCGTCGGGCCTCGCGAAGGCGCAGAAGCCGCCGTACTCGCGCTTGGCCGTCGCCTTCCCCGCGGCGGCGGCGGATGCAGA[A/AGAG]
GAGGAGGGCGCGACGCCGGCGACGGTCAGCTTGGCCATCGCCTTCTCCGCGGCGGCGGATGCAGAAGAGGAGGAGGACGCGACGGCGACGCTCAGCCTGG

Reverse complement sequence

CCAGGCTGAGCGTCGCCGTCGCGTCCTCCTCCTCTTCTGCATCCGCCGCCGCGGAGAAGGCGATGGCCAAGCTGACCGTCGCCGGCGTCGCGCCCTCCTC[T/CTCT]
TCTGCATCCGCCGCCGCCGCGGGGAAGGCGACGGCCAAGCGCGAGTACGGCGGCTTCTGCGCCTTCGCGAGGCCCGACGACAAAACCAGGTGGCGCGTCG

Allele Frequencies:

Populations Population SizeFrequency of AGAG(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 61.60% 38.10% 0.32% 0.02% NA
All Indica  2759 93.70% 5.80% 0.47% 0.04% NA
All Japonica  1512 0.90% 99.10% 0.00% 0.00% NA
Aus  269 98.50% 1.10% 0.37% 0.00% NA
Indica I  595 95.50% 4.00% 0.34% 0.17% NA
Indica II  465 95.70% 3.00% 1.29% 0.00% NA
Indica III  913 93.50% 6.20% 0.22% 0.00% NA
Indica Intermediate  786 91.20% 8.40% 0.38% 0.00% NA
Temperate Japonica  767 0.70% 99.30% 0.00% 0.00% NA
Tropical Japonica  504 1.40% 98.60% 0.00% 0.00% NA
Japonica Intermediate  241 0.40% 99.60% 0.00% 0.00% NA
VI/Aromatic  96 2.10% 97.90% 0.00% 0.00% NA
Intermediate  90 51.10% 47.80% 1.11% 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
vg0332987681 A -> DEL LOC_Os03g57920.1 N frameshift_variant Average:85.104; most accessible tissue: Minghui63 panicle, score: 93.63 N N N N
vg0332987681 A -> AGAG LOC_Os03g57920.1 disruptive_inframe_insertion ; p.Ser114dup; MODERATE inframe_variant Average:85.104; most accessible tissue: Minghui63 panicle, score: 93.63 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)
vg0332987681 A AGAG 0.15 0.12 0.14 0.03 0.13 0.13