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Detailed information for vg1223000255:

Variant ID: vg1223000255 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23000255
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.96, T: 0.04, others allele: 0.00, population size: 115. )

Flanking Sequence (100 bp) in Reference Genome:


TGCCAAAGTCTAGGTTTTCTTTCTATCGCTATATATATATATGTACGTAGTAGTATACTATATATAGGATCATATCGATCGGTCGCCGGCCGGCGGCGTG[C/T]
GTCTAGCTGCTGGAGCGGAGGCCGGCGGCGACGGCGATGGCGATGCAGTTGCTGGCGAGCTTGGCGAGCTCGGCGTCCTGCTTGGACATGAGCGGCGGGA

Reverse complement sequence

TCCCGCCGCTCATGTCCAAGCAGGACGCCGAGCTCGCCAAGCTCGCCAGCAACTGCATCGCCATCGCCGTCGCCGCCGGCCTCCGCTCCAGCAGCTAGAC[G/A]
CACGCCGCCGGCCGGCGACCGATCGATATGATCCTATATATAGTATACTACTACGTACATATATATATATAGCGATAGAAAGAAAACCTAGACTTTGGCA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 78.80% 6.20% 6.26% 8.72% NA
All Indica  2759 82.70% 10.10% 3.26% 3.91% NA
All Japonica  1512 70.80% 0.70% 11.97% 16.53% NA
Aus  269 89.20% 0.00% 4.09% 6.69% NA
Indica I  595 72.60% 0.00% 12.44% 14.96% NA
Indica II  465 59.40% 38.70% 0.86% 1.08% NA
Indica III  913 98.10% 1.00% 0.44% 0.44% NA
Indica Intermediate  786 86.10% 11.60% 1.02% 1.27% NA
Temperate Japonica  767 55.90% 1.40% 18.12% 24.51% NA
Tropical Japonica  504 89.90% 0.00% 4.56% 5.56% NA
Japonica Intermediate  241 78.00% 0.00% 7.88% 14.11% NA
VI/Aromatic  96 59.40% 0.00% 8.33% 32.29% NA
Intermediate  90 85.60% 2.20% 6.67% 5.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223000255 C -> DEL N N silent_mutation Average:78.186; most accessible tissue: Minghui63 panicle, score: 90.624 N N N N
vg1223000255 C -> T LOC_Os12g37480.1 3_prime_UTR_variant ; 3.0bp to feature; MODIFIER silent_mutation Average:78.186; most accessible tissue: Minghui63 panicle, score: 90.624 N N N N
vg1223000255 C -> T LOC_Os12g37470.1 upstream_gene_variant ; 1731.0bp to feature; MODIFIER silent_mutation Average:78.186; most accessible tissue: Minghui63 panicle, score: 90.624 N N N N
vg1223000255 C -> T LOC_Os12g37490.1 downstream_gene_variant ; 1956.0bp to feature; MODIFIER silent_mutation Average:78.186; most accessible tissue: Minghui63 panicle, score: 90.624 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)
vg1223000255 C T 0.05 0.02 0.0 -0.01 0.02 0.03