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Detailed information for vg0424747105:

Variant ID: vg0424747105 (JBrowse)Variation Type: SNP
Chromosome: chr04Position: 24747105
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGTCGGGAGCAGCCGAGAGCTCGCGACTCGCGAGAAGGGAGCCACGGTATGACTGGGAGCGCGCGTAGCGTCGTGGCGCTGCTCTTCTTGCTCGTCGGCT[C/A]
GGCTGCTCGGGCCGATTCAGCCGTCACCGATGGTGAGATCTCGCAGACTGCTACAGCGCTCCTCTGTTAAATATTTTTTGAGCCTTTTGCATGATTTGCA

Reverse complement sequence

TGCAAATCATGCAAAAGGCTCAAAAAATATTTAACAGAGGAGCGCTGTAGCAGTCTGCGAGATCTCACCATCGGTGACGGCTGAATCGGCCCGAGCAGCC[G/T]
AGCCGACGAGCAAGAAGAGCAGCGCCACGACGCTACGCGCGCTCCCAGTCATACCGTGGCTCCCTTCTCGCGAGTCGCGAGCTCTCGGCTGCTCCCGACG

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 90.10% 7.90% 2.01% 0.00% NA
All Indica  2759 99.30% 0.60% 0.07% 0.00% NA
All Japonica  1512 73.10% 21.30% 5.62% 0.00% NA
Aus  269 99.60% 0.00% 0.37% 0.00% NA
Indica I  595 99.70% 0.30% 0.00% 0.00% NA
Indica II  465 99.80% 0.00% 0.22% 0.00% NA
Indica III  913 99.30% 0.70% 0.00% 0.00% NA
Indica Intermediate  786 98.90% 1.00% 0.13% 0.00% NA
Temperate Japonica  767 79.90% 12.90% 7.17% 0.00% NA
Tropical Japonica  504 70.60% 26.60% 2.78% 0.00% NA
Japonica Intermediate  241 56.40% 36.90% 6.64% 0.00% NA
VI/Aromatic  96 75.00% 24.00% 1.04% 0.00% NA
Intermediate  90 78.90% 14.40% 6.67% 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
vg0424747105 C -> A LOC_Os04g41759.1 stop_gained ; p.Ser18*; HIGH stop_gained Average:81.953; most accessible tissue: Minghui63 panicle, score: 90.408 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)
vg0424747105 C A -0.06 -0.08 -0.09 -0.04 -0.06 -0.04