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Detailed information for vg1223131018:

Variant ID: vg1223131018 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23131018
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 363. )

Flanking Sequence (100 bp) in Reference Genome:


GGACTCAGGCGGCTCGACGACGTCCCCGACAACTCCGACGAGATGGCTTGCGACGTGGCTGGAGCTGGTGACGCCTTGCGGGCACCGAGTAGTGACGCTC[C/T]
GGCCGGCATTCTCCTCGAGCAACTAGCCGATGAGTTCGAAGAAGATGGTAACGTCGACGAGAGCGAGCGGACGTCAGTGATGTAGTGTAGGGGAGGCTGC

Reverse complement sequence

GCAGCCTCCCCTACACTACATCACTGACGTCCGCTCGCTCTCGTCGACGTTACCATCTTCTTCGAACTCATCGGCTAGTTGCTCGAGGAGAATGCCGGCC[G/A]
GAGCGTCACTACTCGGTGCCCGCAAGGCGTCACCAGCTCCAGCCACGTCGCAAGCCATCTCGTCGGAGTTGTCGGGGACGTCGTCGAGCCGCCTGAGTCC

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 90.30% 0.10% 1.59% 8.08% NA
All Indica  2759 83.40% 0.10% 2.72% 13.77% NA
All Japonica  1512 99.90% 0.00% 0.00% 0.07% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 94.80% 0.00% 0.50% 4.71% NA
Indica II  465 86.00% 0.20% 0.43% 13.33% NA
Indica III  913 69.90% 0.20% 6.24% 23.66% NA
Indica Intermediate  786 88.90% 0.00% 1.65% 9.41% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.00% 0.00% 0.41% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 98.90% 0.00% 0.00% 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
vg1223131018 C -> DEL LOC_Os12g37680.1 N frameshift_variant Average:89.864; most accessible tissue: Minghui63 flag leaf, score: 99.673 N N N N
vg1223131018 C -> T LOC_Os12g37680.1 missense_variant ; p.Pro58Leu; MODERATE nonsynonymous_codon ; P58L Average:89.864; most accessible tissue: Minghui63 flag leaf, score: 99.673 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)
vg1223131018 C T 0.01 0.01 0.01 0.01 0.02 0.02