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Detailed information for vg0312510496:

Variant ID: vg0312510496 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 12510496
Reference Allele: GAlternative Allele: GCGC
Primary Allele: GSecondary Allele: GCGC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATGTCCTGCCTGTCCTCCTGGCGCGCGCGGTCGGCGCTGTTGAGGTAGTACGACTCCCTGTTGGGGCAGTAGCAGCAGCACGGGCTCAGGCCGCCGGCCG[G/GCGC]
CGCCGCCGCCGCCGGTGGCTGGCGTGGCGCCGCCGGGGGGACGGCGGACGCGTCGGAGGGTCGGGCCGTTGACGCGGGGCTCGCCCGCTTGCTCTTCTTC

Reverse complement sequence

GAAGAAGAGCAAGCGGGCGAGCCCCGCGTCAACGGCCCGACCCTCCGACGCGTCCGCCGTCCCCCCGGCGGCGCCACGCCAGCCACCGGCGGCGGCGGCG[C/GCGC]
CGGCCGGCGGCCTGAGCCCGTGCTGCTGCTACTGCCCCAACAGGGAGTCGTACTACCTCAACAGCGCCGACCGCGCGCGCCAGGAGGACAGGCAGGACAT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of GCGC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 79.90% 0.80% 13.50% 5.82% NA
All Indica  2759 81.60% 0.00% 11.74% 6.67% NA
All Japonica  1512 72.00% 2.50% 20.11% 5.42% NA
Aus  269 99.30% 0.00% 0.00% 0.74% NA
Indica I  595 72.90% 0.00% 22.52% 4.54% NA
Indica II  465 66.90% 0.20% 16.56% 16.34% NA
Indica III  913 95.70% 0.00% 1.20% 3.07% NA
Indica Intermediate  786 80.30% 0.00% 12.98% 6.74% NA
Temperate Japonica  767 52.90% 2.30% 34.68% 10.04% NA
Tropical Japonica  504 97.60% 0.40% 1.59% 0.40% NA
Japonica Intermediate  241 78.80% 7.50% 12.45% 1.24% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 81.10% 0.00% 11.11% 7.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0312510496 G -> DEL LOC_Os03g21870.1 N frameshift_variant Average:91.002; most accessible tissue: Zhenshan97 flower, score: 94.869 N N N N
vg0312510496 G -> GCGC LOC_Os03g21870.1 inframe_insertion ; p.Ala56dup; MODERATE inframe_variant Average:91.002; most accessible tissue: Zhenshan97 flower, score: 94.869 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)
vg0312510496 G GCGC -0.19 -0.21 -0.27 -0.08 -0.17 -0.29