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Detailed information for vg1223131002:

Variant ID: vg1223131002 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23131002
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.91, T: 0.09, others allele: 0.00, population size: 245. )

Flanking Sequence (100 bp) in Reference Genome:


GCGTTGCGTCGTCTACGGACTCAGGCGGCTCGACGACGTCCCCGACAACTCCGACGAGATGGCTTGCGACGTGGCTGGAGCTGGTGACGCCTTGCGGGCA[C/T]
CGAGTAGTGACGCTCCGGCCGGCATTCTCCTCGAGCAACTAGCCGATGAGTTCGAAGAAGATGGTAACGTCGACGAGAGCGAGCGGACGTCAGTGATGTA

Reverse complement sequence

TACATCACTGACGTCCGCTCGCTCTCGTCGACGTTACCATCTTCTTCGAACTCATCGGCTAGTTGCTCGAGGAGAATGCCGGCCGGAGCGTCACTACTCG[G/A]
TGCCCGCAAGGCGTCACCAGCTCCAGCCACGTCGCAAGCCATCTCGTCGGAGTTGTCGGGGACGTCGTCGAGCCGCCTGAGTCCGTAGACGACGCAACGC

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 52.50% 2.40% 8.82% 36.27% NA
All Indica  2759 24.70% 2.30% 13.88% 59.08% NA
All Japonica  1512 97.40% 0.00% 0.20% 2.45% NA
Aus  269 69.90% 18.20% 8.55% 3.35% NA
Indica I  595 45.40% 1.20% 12.27% 41.18% NA
Indica II  465 20.90% 3.00% 21.72% 54.41% NA
Indica III  913 10.60% 1.50% 9.09% 78.75% NA
Indica Intermediate  786 27.70% 3.70% 16.03% 52.54% NA
Temperate Japonica  767 99.20% 0.00% 0.39% 0.39% NA
Tropical Japonica  504 94.80% 0.00% 0.00% 5.16% NA
Japonica Intermediate  241 96.70% 0.00% 0.00% 3.32% NA
VI/Aromatic  96 84.40% 0.00% 2.08% 13.54% NA
Intermediate  90 65.60% 0.00% 6.67% 27.78% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223131002 C -> DEL LOC_Os12g37680.1 N frameshift_variant Average:89.721; most accessible tissue: Minghui63 flag leaf, score: 99.66 N N N N
vg1223131002 C -> T LOC_Os12g37680.1 missense_variant ; p.Pro53Ser; MODERATE nonsynonymous_codon ; P53S Average:89.721; most accessible tissue: Minghui63 flag leaf, score: 99.66 unknown unknown DELETERIOUS 0.00

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)
vg1223131002 C T -0.03 -0.03 -0.03 -0.03 -0.03 -0.04