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Detailed information for vg0205347456:

Variant ID: vg0205347456 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 5347456
Reference Allele: TCTCTCTCAAlternative Allele: T
Primary Allele: TCTCTCTCASecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCGGCGGCGGAGGCCGAGGCGGCGGTGGCGGAGGAGGCGTGCGGGGATTGGAATCGCGAGCTCGGTGCGCGTGGTGGCGTCTCCTCTCTCTCTCTCTCTC[TCTCTCTCA/T]
CTCTCTCTCTTCAGGGGAAGGTGGGGGTGGGGGGAGAGAGAGACACTGATAAAAAAGAAAGCCCCCGATGGCGACGGGGAAATTACCGGTTTGCCCCTCG

Reverse complement sequence

CGAGGGGCAAACCGGTAATTTCCCCGTCGCCATCGGGGGCTTTCTTTTTTATCAGTGTCTCTCTCTCCCCCCACCCCCACCTTCCCCTGAAGAGAGAGAG[TGAGAGAGA/A]
GAGAGAGAGAGAGAGAGGAGACGCCACCACGCGCACCGAGCTCGCGATTCCAATCCCCGCACGCCTCCTCCGCCACCGCCGCCTCGGCCTCCGCCGCCGC

Allele Frequencies:

Populations Population SizeFrequency of TCTCTCTCA(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 90.00% 4.20% 3.41% 2.41% NA
All Indica  2759 84.90% 6.90% 4.53% 3.73% NA
All Japonica  1512 99.70% 0.20% 0.07% 0.00% NA
Aus  269 84.40% 1.50% 10.78% 3.35% NA
Indica I  595 91.10% 8.60% 0.34% 0.00% NA
Indica II  465 82.80% 1.50% 10.32% 5.38% NA
Indica III  913 83.50% 7.80% 4.27% 4.49% NA
Indica Intermediate  786 83.10% 7.60% 4.58% 4.71% NA
Temperate Japonica  767 99.60% 0.30% 0.13% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 94.80% 2.10% 2.08% 1.04% NA
Intermediate  90 94.40% 0.00% 4.44% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0205347456 TCTCTCTCA -> T LOC_Os02g10200.1 5_prime_UTR_variant ; 899.0bp to feature; MODIFIER silent_mutation Average:99.529; most accessible tissue: Minghui63 root, score: 99.783 N N N N
vg0205347456 TCTCTCTCA -> T LOC_Os02g10200.2 5_prime_UTR_variant ; 899.0bp to feature; MODIFIER silent_mutation Average:99.529; most accessible tissue: Minghui63 root, score: 99.783 N N N N
vg0205347456 TCTCTCTCA -> T LOC_Os02g10210.1 upstream_gene_variant ; 1263.0bp to feature; MODIFIER silent_mutation Average:99.529; most accessible tissue: Minghui63 root, score: 99.783 N N N N
vg0205347456 TCTCTCTCA -> T LOC_Os02g10220.1 upstream_gene_variant ; 4010.0bp to feature; MODIFIER silent_mutation Average:99.529; most accessible tissue: Minghui63 root, score: 99.783 N N N N
vg0205347456 TCTCTCTCA -> T LOC_Os02g10190.1 downstream_gene_variant ; 2939.0bp to feature; MODIFIER silent_mutation Average:99.529; most accessible tissue: Minghui63 root, score: 99.783 N N N N
vg0205347456 TCTCTCTCA -> DEL N N silent_mutation Average:99.529; most accessible tissue: Minghui63 root, score: 99.783 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)
vg0205347456 TCTCT* T 0.02 0.02 -0.03 0.06 0.02 0.03