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Detailed information for vg0224879890:

Variant ID: vg0224879890 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 24879890
Reference Allele: GGTAlternative Allele: G,GGTGT
Primary Allele: GGTSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCAGCACGGCGCCCTCCCCATTGCCGACCTTTCCTCCTCTCGTTCGAGCTCTCGCGCCCTGTGCGTTTGTTTGTGTTTGTGTGTGATGGATTGATTGCTC[GGT/G,GGTGT]
GTGTGTGTGTGTTGCTGATGCTGCGTCGTCTGTGTGATGCTGCGGAATGGGAGGGGGGAAGCGGCGGGGTATTTATGCGCGGGGCGCGGCTACAGCGAAC

Reverse complement sequence

GTTCGCTGTAGCCGCGCCCCGCGCATAAATACCCCGCCGCTTCCCCCCTCCCATTCCGCAGCATCACACAGACGACGCAGCATCAGCAACACACACACAC[ACC/C,ACACC]
GAGCAATCAATCCATCACACACAAACACAAACAAACGCACAGGGCGCGAGAGCTCGAACGAGAGGAGGAAAGGTCGGCAATGGGGAGGGCGCCGTGCTGC

Allele Frequencies:

Populations Population SizeFrequency of GGT(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 79.40% 6.80% 0.44% 11.55% GGTGT: 1.80%
All Indica  2759 75.90% 10.90% 0.40% 12.43% GGTGT: 0.36%
All Japonica  1512 98.90% 0.00% 0.00% 1.06% GGTGT: 0.07%
Aus  269 26.40% 4.80% 2.60% 42.75% GGTGT: 23.42%
Indica I  595 99.20% 0.20% 0.00% 0.50% GGTGT: 0.17%
Indica II  465 61.10% 15.30% 0.86% 22.80% NA
Indica III  913 67.30% 18.40% 0.33% 13.80% GGTGT: 0.22%
Indica Intermediate  786 77.00% 7.90% 0.51% 13.74% GGTGT: 0.89%
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 98.00% 0.00% 0.00% 1.79% GGTGT: 0.20%
Japonica Intermediate  241 97.10% 0.00% 0.00% 2.90% NA
VI/Aromatic  96 32.30% 0.00% 3.12% 59.38% GGTGT: 5.21%
Intermediate  90 68.90% 7.80% 0.00% 16.67% GGTGT: 6.67%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0224879890 GGT -> G LOC_Os02g41510.1 5_prime_UTR_variant ; 81.0bp to feature; MODIFIER silent_mutation Average:95.041; most accessible tissue: Zhenshan97 root, score: 99.602 N N N N
vg0224879890 GGT -> GGTGT LOC_Os02g41510.1 5_prime_UTR_variant ; 83.0bp to feature; MODIFIER silent_mutation Average:95.041; most accessible tissue: Zhenshan97 root, score: 99.602 N N N N
vg0224879890 GGT -> DEL N N silent_mutation Average:95.041; most accessible tissue: Zhenshan97 root, score: 99.602 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)
vg0224879890 GGT G 0.01 0.26 0.33 0.18 0.23 0.33
vg0224879890 GGT GGTGT 0.06 0.29 0.31 0.13 0.17 0.19