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Detailed information for vg0419401336:

Variant ID: vg0419401336 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 19401336
Reference Allele: GAAlternative Allele: G,GAA
Primary Allele: GSecondary Allele: GA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AATATGGAGCGAATCACATACGTTTTCGGGACGATCTTTGGAGCTTTCTTAGGACGAACCTTGGGTGCAAATTTAAGCCCTCCCTTGCGTAGCACAAAAG[GA/G,GAA]
AAAAAAATATATTAAAGATTACGGTAAGAACCAATTAGGCCACACCAATCAGGAAATATAAGGGAGGATTTTTAACAACCTTGCGAGGAGGGAGGCCATC

Reverse complement sequence

GATGGCCTCCCTCCTCGCAAGGTTGTTAAAAATCCTCCCTTATATTTCCTGATTGGTGTGGCCTAATTGGTTCTTACCGTAATCTTTAATATATTTTTTT[TC/C,TTC]
CTTTTGTGCTACGCAAGGGAGGGCTTAAATTTGCACCCAAGGTTCGTCCTAAGAAAGCTCCAAAGATCGTCCCGAAAACGTATGTGATTCGCTCCATATT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of GA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 69.20% 10.20% 1.33% 19.23% NA
All Indica  2759 99.30% 0.20% 0.11% 0.36% NA
All Japonica  1512 9.70% 31.00% 3.64% 55.75% NA
Aus  269 99.60% 0.00% 0.37% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 98.10% 0.60% 0.43% 0.86% NA
Indica III  913 99.70% 0.00% 0.00% 0.33% NA
Indica Intermediate  786 99.10% 0.40% 0.13% 0.38% NA
Temperate Japonica  767 7.30% 39.40% 5.08% 48.24% NA
Tropical Japonica  504 10.10% 24.80% 2.58% 62.50% NA
Japonica Intermediate  241 16.20% 17.00% 1.24% 65.56% NA
VI/Aromatic  96 60.40% 2.10% 2.08% 35.42% NA
Intermediate  90 64.40% 8.90% 2.22% 24.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0419401336 GA -> DEL N N silent_mutation Average:94.487; most accessible tissue: Minghui63 flag leaf, score: 99.928 N N N N
vg0419401336 GA -> GAA LOC_Os04g32350.1 intron_variant ; MODIFIER N Average:94.487; most accessible tissue: Minghui63 flag leaf, score: 99.928 N N N N
vg0419401336 GA -> G LOC_Os04g32350.1 intron_variant ; MODIFIER silent_mutation Average:94.487; most accessible tissue: Minghui63 flag leaf, score: 99.928 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)
vg0419401336 GA G -0.17 -0.07 -0.11 -0.12 -0.15 -0.12
vg0419401336 GA GAA -0.05 -0.07 0.04 -0.08 -0.03 0.01