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Detailed information for vg1223000364:

Variant ID: vg1223000364 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 23000364
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCTGGAGCGGAGGCCGGCGGCGACGGCGATGGCGATGCAGTTGCTGGCGAGCTTGGCGAGCTCGGCGTCCTGCTTGGACATGAGCGGCGGGATGTCGCCG[T/C]
CGCGTTCCTCGAAGCCCTGGTCGCAGGTGTCGACGTCGGTGCGGGCCGTGTCGAGCATGGTGCCCGTCGTGTCCTTGTCGCCGGCGGCCATGGCCTTGTC

Reverse complement sequence

GACAAGGCCATGGCCGCCGGCGACAAGGACACGACGGGCACCATGCTCGACACGGCCCGCACCGACGTCGACACCTGCGACCAGGGCTTCGAGGAACGCG[A/G]
CGGCGACATCCCGCCGCTCATGTCCAAGCAGGACGCCGAGCTCGCCAAGCTCGCCAGCAACTGCATCGCCATCGCCGTCGCCGCCGGCCTCCGCTCCAGC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 73.70% 0.10% 4.42% 21.71% NA
All Indica  2759 86.40% 0.30% 3.52% 9.86% NA
All Japonica  1512 50.20% 0.00% 6.28% 43.52% NA
Aus  269 85.50% 0.00% 1.86% 12.64% NA
Indica I  595 64.50% 0.00% 6.22% 29.24% NA
Indica II  465 91.20% 0.00% 3.66% 5.16% NA
Indica III  913 95.70% 0.80% 0.99% 2.52% NA
Indica Intermediate  786 89.20% 0.00% 4.33% 6.49% NA
Temperate Japonica  767 42.40% 0.00% 8.21% 49.41% NA
Tropical Japonica  504 60.90% 0.00% 3.77% 35.32% NA
Japonica Intermediate  241 52.70% 0.00% 5.39% 41.91% NA
VI/Aromatic  96 51.00% 0.00% 8.33% 40.62% NA
Intermediate  90 70.00% 0.00% 4.44% 25.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1223000364 T -> C LOC_Os12g37480.1 missense_variant ; p.Asp197Gly; MODERATE nonsynonymous_codon ; D197G Average:80.161; most accessible tissue: Minghui63 panicle, score: 92.231 unknown unknown DELETERIOUS 0.02
vg1223000364 T -> DEL LOC_Os12g37480.1 N frameshift_variant Average:80.161; most accessible tissue: Minghui63 panicle, score: 92.231 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)
vg1223000364 T C -0.04 -0.04 0.0 0.02 0.0 0.0