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Detailed information for vg0527223548:

Variant ID: vg0527223548 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 27223548
Reference Allele: GTCGTCAAlternative Allele: G
Primary Allele: GTCGTCASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGTGCGAGAGGGCTGGCGGGGTGGCGGCGCGCAAGGTCACCGAGATGGTGAGGCCGGTGCTCGTCGTGGAAGTGGCGGTGGTGGCGTCGGGCCGGTGGTC[GTCGTCA/G]
TCGTCGTCGTCGTCGGCGACGTGGCCCCAGAGCTCGAGCAGGACGACGCTTGGGATATCGCCCTTGCCCTCGCCGCTTCCGCTTGCCATGGAGGCAGCAG

Reverse complement sequence

CTGCTGCCTCCATGGCAAGCGGAAGCGGCGAGGGCAAGGGCGATATCCCAAGCGTCGTCCTGCTCGAGCTCTGGGGCCACGTCGCCGACGACGACGACGA[TGACGAC/C]
GACCACCGGCCCGACGCCACCACCGCCACTTCCACGACGAGCACCGGCCTCACCATCTCGGTGACCTTGCGCGCCGCCACCCCGCCAGCCCTCTCGCACC

Allele Frequencies:

Populations Population SizeFrequency of GTCGTCA(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 89.10% 10.70% 0.13% 0.06% NA
All Indica  2759 92.90% 6.90% 0.14% 0.11% NA
All Japonica  1512 80.70% 19.30% 0.00% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 99.00% 0.80% 0.00% 0.17% NA
Indica II  465 69.50% 29.70% 0.43% 0.43% NA
Indica III  913 99.80% 0.20% 0.00% 0.00% NA
Indica Intermediate  786 94.00% 5.70% 0.25% 0.00% NA
Temperate Japonica  767 99.10% 0.90% 0.00% 0.00% NA
Tropical Japonica  504 57.50% 42.50% 0.00% 0.00% NA
Japonica Intermediate  241 70.50% 29.50% 0.00% 0.00% NA
VI/Aromatic  96 93.80% 6.20% 0.00% 0.00% NA
Intermediate  90 81.10% 16.70% 2.22% 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
vg0527223548 GTCGTCA -> DEL LOC_Os05g47520.1 N frameshift_variant Average:94.432; most accessible tissue: Zhenshan97 flower, score: 97.933 N N N N
vg0527223548 GTCGTCA -> G LOC_Os05g47520.1 disruptive_inframe_deletion ; p.Asp31_Asp32del; MODERATE inframe_variant Average:94.432; most accessible tissue: Zhenshan97 flower, score: 97.933 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)
vg0527223548 GTCGT* G -0.08 -0.09 -0.09 0.0 -0.03 -0.02