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Detailed information for vg1223000349:

Variant ID: vg1223000349 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23000349
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGCGTGCGTCTAGCTGCTGGAGCGGAGGCCGGCGGCGACGGCGATGGCGATGCAGTTGCTGGCGAGCTTGGCGAGCTCGGCGTCCTGCTTGGACATGAGC[G/A]
GCGGGATGTCGCCGTCGCGTTCCTCGAAGCCCTGGTCGCAGGTGTCGACGTCGGTGCGGGCCGTGTCGAGCATGGTGCCCGTCGTGTCCTTGTCGCCGGC

Reverse complement sequence

GCCGGCGACAAGGACACGACGGGCACCATGCTCGACACGGCCCGCACCGACGTCGACACCTGCGACCAGGGCTTCGAGGAACGCGACGGCGACATCCCGC[C/T]
GCTCATGTCCAAGCAGGACGCCGAGCTCGCCAAGCTCGCCAGCAACTGCATCGCCATCGCCGTCGCCGCCGGCCTCCGCTCCAGCAGCTAGACGCACGCC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 68.60% 3.50% 8.21% 19.68% NA
All Indica  2759 84.10% 0.60% 6.52% 8.77% NA
All Japonica  1512 48.70% 0.00% 12.17% 39.09% NA
Aus  269 32.00% 52.00% 2.60% 13.38% NA
Indica I  595 62.50% 0.00% 12.94% 24.54% NA
Indica II  465 91.40% 0.20% 3.87% 4.52% NA
Indica III  913 94.40% 0.30% 2.19% 3.07% NA
Indica Intermediate  786 84.20% 1.50% 8.27% 5.98% NA
Temperate Japonica  767 41.10% 0.00% 14.86% 44.07% NA
Tropical Japonica  504 58.70% 0.00% 9.52% 31.75% NA
Japonica Intermediate  241 52.30% 0.00% 9.13% 38.59% NA
VI/Aromatic  96 43.80% 6.20% 7.29% 42.71% NA
Intermediate  90 64.40% 2.20% 11.11% 22.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223000349 G -> DEL LOC_Os12g37480.1 N frameshift_variant Average:80.134; most accessible tissue: Minghui63 panicle, score: 92.078 N N N N
vg1223000349 G -> A LOC_Os12g37480.1 missense_variant ; p.Pro202Leu; MODERATE nonsynonymous_codon ; P202L Average:80.134; most accessible tissue: Minghui63 panicle, score: 92.078 unknown unknown TOLERATED 0.08

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)
vg1223000349 G A 0.05 0.02 0.02 0.01 0.03 0.02