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Detailed information for vg1223130859:

Variant ID: vg1223130859 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23130859
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 395. )

Flanking Sequence (100 bp) in Reference Genome:


AGTCAGCATCCGCGACATAGGACGGCTCTGCGGCGTAGCGCCCTGGCGGCTGCCTCGACTCCCTTTGGCGTGCTCCGGTGAGGCAAAATGACAAAAAAAA[C/A]
CTTCTCCGGCAAGCAGCGGATGATGGCGAGCATCGCTTGGCAGCGTTGCGTCGTCTACGGACTCAGGCGGCTCGACGACGTCCCCGACAACTCCGACGAG

Reverse complement sequence

CTCGTCGGAGTTGTCGGGGACGTCGTCGAGCCGCCTGAGTCCGTAGACGACGCAACGCTGCCAAGCGATGCTCGCCATCATCCGCTGCTTGCCGGAGAAG[G/T]
TTTTTTTTGTCATTTTGCCTCACCGGAGCACGCCAAAGGGAGTCGAGGCAGCCGCCAGGGCGCTACGCCGCAGAGCCGTCCTATGTCGCGGATGCTGACT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 84.80% 0.20% 1.50% 13.56% NA
All Indica  2759 78.00% 0.30% 2.10% 19.61% NA
All Japonica  1512 93.60% 0.00% 0.66% 5.75% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 91.80% 0.30% 0.34% 7.56% NA
Indica II  465 74.00% 0.00% 3.66% 22.37% NA
Indica III  913 65.70% 0.40% 2.85% 31.00% NA
Indica Intermediate  786 84.20% 0.30% 1.65% 13.87% NA
Temperate Japonica  767 87.60% 0.00% 1.17% 11.21% NA
Tropical Japonica  504 99.80% 0.00% 0.20% 0.00% NA
Japonica Intermediate  241 99.60% 0.00% 0.00% 0.41% NA
VI/Aromatic  96 88.50% 0.00% 1.04% 10.42% NA
Intermediate  90 94.40% 0.00% 2.22% 3.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223130859 C -> DEL LOC_Os12g37680.1 N frameshift_variant Average:86.959; most accessible tissue: Minghui63 flag leaf, score: 99.554 N N N N
vg1223130859 C -> A LOC_Os12g37680.1 missense_variant ; p.Thr5Asn; MODERATE nonsynonymous_codon ; T5N Average:86.959; most accessible tissue: Minghui63 flag leaf, score: 99.554 unknown unknown DELETERIOUS 0.01

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)
vg1223130859 C A 0.03 0.0 0.0 0.0 0.01 0.02