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Detailed information for vg1219911343:

Variant ID: vg1219911343 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 19911343
Reference Allele: CAlternative Allele: G
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.99, G: 0.01, others allele: 0.00, population size: 108. )

Flanking Sequence (100 bp) in Reference Genome:


TTCATGTCCGTGAACCTGGCCTTCTTCTCCAGCGAGAAGAAGGTCCTCGTCTGGCTTCCCGTGCCCACCAGCGCCGCCGCCAGCGCCGCCAGGGCGCACA[C/G]
CGCGCACCGCAGCGCCACCTCCGCCACCTTCGCCTTCCTCTCCAACCCCATCGCCGCCGCCATGGCTAACCTCAGCTTAGCTTTAGCTGCTCACCGGCGA

Reverse complement sequence

TCGCCGGTGAGCAGCTAAAGCTAAGCTGAGGTTAGCCATGGCGGCGGCGATGGGGTTGGAGAGGAAGGCGAAGGTGGCGGAGGTGGCGCTGCGGTGCGCG[G/C]
TGTGCGCCCTGGCGGCGCTGGCGGCGGCGCTGGTGGGCACGGGAAGCCAGACGAGGACCTTCTTCTCGCTGGAGAAGAAGGCCAGGTTCACGGACATGAA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 71.60% 28.20% 0.17% 0.00% NA
All Indica  2759 52.70% 47.00% 0.29% 0.00% NA
All Japonica  1512 98.70% 1.30% 0.00% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 74.60% 25.00% 0.34% 0.00% NA
Indica II  465 13.30% 86.00% 0.65% 0.00% NA
Indica III  913 62.30% 37.50% 0.22% 0.00% NA
Indica Intermediate  786 48.10% 51.80% 0.13% 0.00% NA
Temperate Japonica  767 99.30% 0.70% 0.00% 0.00% NA
Tropical Japonica  504 97.20% 2.80% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 83.30% 16.70% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1219911343 C -> G LOC_Os12g32970.1 missense_variant ; p.Val22Leu; MODERATE nonsynonymous_codon ; V22L Average:87.253; most accessible tissue: Minghui63 root, score: 93.695 unknown unknown TOLERATED 0.32

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)
vg1219911343 C G -0.02 -0.02 -0.03 -0.01 -0.02 -0.02