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Detailed information for vg0502312147:

Variant ID: vg0502312147 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 2312147
Reference Allele: TAlternative Allele: TGAA
Primary Allele: TSecondary Allele: TGAA

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 1.00, others allele: 0.00, population size: 354. )

Flanking Sequence (100 bp) in Reference Genome:


CCGATCGGTGTTCCCATTGACGGCAGAGACAGTCAGCAGACAAATCATTATTCCTGTACCTGCGCAATTATCTGTGCAATTATGGGGAAGCTCACCGTTC[T/TGAA]
GAAGAACTGATCACCACAGACACGCTCAACGTGCTTCATCTCGGATTGGAGAAGCAGATACGGATTTCCGAATGAAAATTGCTAGGGTATCTAGCTGCAT

Reverse complement sequence

ATGCAGCTAGATACCCTAGCAATTTTCATTCGGAAATCCGTATCTGCTTCTCCAATCCGAGATGAAGCACGTTGAGCGTGTCTGTGGTGATCAGTTCTTC[A/TTCA]
GAACGGTGAGCTTCCCCATAATTGCACAGATAATTGCGCAGGTACAGGAATAATGATTTGTCTGCTGACTGTCTCTGCCGTCAATGGGAACACCGATCGG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of TGAA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 77.70% 17.40% 2.92% 1.97% NA
All Indica  2759 67.10% 24.70% 4.93% 3.33% NA
All Japonica  1512 97.20% 2.80% 0.07% 0.00% NA
Aus  269 64.70% 35.30% 0.00% 0.00% NA
Indica I  595 82.00% 18.00% 0.00% 0.00% NA
Indica II  465 77.40% 20.90% 0.86% 0.86% NA
Indica III  913 55.00% 25.50% 10.73% 8.76% NA
Indica Intermediate  786 63.60% 31.00% 4.33% 1.02% NA
Temperate Japonica  767 99.70% 0.10% 0.13% 0.00% NA
Tropical Japonica  504 97.00% 3.00% 0.00% 0.00% NA
Japonica Intermediate  241 89.20% 10.80% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 93.30% 4.40% 1.11% 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
vg0502312147 T -> DEL N N silent_mutation Average:80.487; most accessible tissue: Zhenshan97 panicle, score: 91.03 N N N N
vg0502312147 T -> TGAA LOC_Os05g04820.1 5_prime_UTR_variant ; 1249.0bp to feature; MODIFIER silent_mutation Average:80.487; most accessible tissue: Zhenshan97 panicle, score: 91.03 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)
vg0502312147 T TGAA -0.2 0.05 -0.07 0.12 0.03 -0.05