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Detailed information for vg0101944297:

Variant ID: vg0101944297 (JBrowse)Variation Type: INDEL
Chromosome: chr01Position: 1944297
Reference Allele: TCAAlternative Allele: T
Primary Allele: TCASecondary Allele: T

Inferred Ancestral Allele : TCA (evidence from allele frequency in Oryza rufipogon: TCA: 0.98, T: 0.02, others allele: 0.00, population size: 97. )

Flanking Sequence (100 bp) in Reference Genome:


AAGTGAACAGGCCTTAAATAAAACATGCACGTCTCAGCGAAGGGAACGGAAGTGAATGACACTTGTGCAAATCGGCCGGACACTTTATTTACTCATTCAT[TCA/T]
GACGCCATGGGACAATTCCAAGGACCGAACCAATGTTGTGCTCCGGTCTAACCAGAATACATTACATTGGCGGAGGCCACGACACAACTGCCACACAGAC

Reverse complement sequence

GTCTGTGTGGCAGTTGTGTCGTGGCCTCCGCCAATGTAATGTATTCTGGTTAGACCGGAGCACAACATTGGTTCGGTCCTTGGAATTGTCCCATGGCGTC[TGA/A]
ATGAATGAGTAAATAAAGTGTCCGGCCGATTTGCACAAGTGTCATTCACTTCCGTTCCCTTCGCTGAGACGTGCATGTTTTATTTAAGGCCTGTTCACTT

Allele Frequencies:

Populations Population SizeFrequency of TCA(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 89.80% 9.90% 0.04% 0.21% NA
All Indica  2759 89.10% 10.50% 0.07% 0.36% NA
All Japonica  1512 99.70% 0.30% 0.00% 0.00% NA
Aus  269 36.40% 63.60% 0.00% 0.00% NA
Indica I  595 97.60% 2.20% 0.00% 0.17% NA
Indica II  465 96.30% 3.70% 0.00% 0.00% NA
Indica III  913 83.20% 16.30% 0.11% 0.33% NA
Indica Intermediate  786 85.10% 14.00% 0.13% 0.76% NA
Temperate Japonica  767 99.70% 0.30% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 96.70% 3.30% 0.00% 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
vg0101944297 TCA -> T LOC_Os01g04360.1 3_prime_UTR_variant ; 174.0bp to feature; MODIFIER silent_mutation Average:86.926; most accessible tissue: Minghui63 panicle, score: 97.877 N N N N
vg0101944297 TCA -> T LOC_Os01g04350.1 downstream_gene_variant ; 2345.0bp to feature; MODIFIER silent_mutation Average:86.926; most accessible tissue: Minghui63 panicle, score: 97.877 N N N N
vg0101944297 TCA -> T LOC_Os01g04370.1 downstream_gene_variant ; 4439.0bp to feature; MODIFIER silent_mutation Average:86.926; most accessible tissue: Minghui63 panicle, score: 97.877 N N N N
vg0101944297 TCA -> DEL N N silent_mutation Average:86.926; most accessible tissue: Minghui63 panicle, score: 97.877 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)
vg0101944297 TCA T -0.26 -0.2 -0.23 -0.18 -0.31 -0.28